1. Analytes
  2. PC

PC

Analyte Export to PDF
Name:
pyruvate carboxylase
Symbol:
PC
Version of Orphanet:
2022-05-01 04:55:23
Synonyms:
PCB
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
01 May 2022 - 06:55
  • Intellectual disability (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 97.92 0 No comment
    AAAS 98.73 0 No comment
    AARS1 98.82 0 No comment
    AASS 98.51 0 No comment
    ABAT 99.40 0 No comment
    ABCB11 98.30 0 No comment
    ABCB7 94.65 0 No comment
    ABCC6 99.58 0 No comment
    ABCC8 99.33 0 No comment
    ABCC9 99.05 0 No comment
    ABCD1 97.12 0 No comment
    ABCD4 98.90 0 No comment
    ABCG5 99.05 0 No comment
    ABHD12 89.63 0 No comment
    ABHD5 97.97 0 No comment
    ACAD9 99.34 0 No comment
    ACADM 97.15 0 No comment
    ACADS 99.06 0 No comment
    ACADSB 96.29 0 No comment
    ACADVL 98.55 0 No comment
    ACAN 98.12 0 No comment
    ACAT1 97.08 0 No comment
    ACBD6 99.00 0 No comment
    ACE2 97.24 0 No comment
    ACIN1 99.19 0 No comment
    ACO2 98.76 0 No comment
    ACOT9 97.29 0 No comment
    ACOX1 98.24 0 No comment
    ACP5 98.80 0 No comment
    ACSF3 99.18 0 No comment
    ACSL4 91.66 0 No comment
    ACTA2 99.56 0 No comment
    ACTB 99.87 0 No comment
    ACTG1 99.91 0 No comment
    ACTL6A 99.12 0 No comment
    ACTL6B 98.82 0 No comment
    ACVR1 99.30 0 No comment
    ACY1 99.53 0 No comment
    ADA 98.79 0 No comment
    ADAM22 97.86 0 No comment
    ADAMTS10 99.11 0 No comment
    ADAR 99.42 0 No comment
    ADARB1 93.73 0 No comment
    ADAT3 98.92 0 No comment
    COQ8A 99.33 0 No comment
    ADCY5 95.67 0 No comment
    ADD3 99.21 0 No comment
    ADK 98.15 0 No comment
    ADNP 99.77 0 No comment
    ADPRS 96.99 0 No comment
    ADRA2B 99.24 0 No comment
    ADSL 99.02 0 No comment
    AFF2 96.88 0 No comment
    AFF3 99.12 0 No comment
    AFF4 99.25 0 No comment
    AFG3L2 96.83 0 No comment
    AFP 98.35 0 No comment
    AGA 99.31 0 No comment
    AGK 99.23 0 No comment
    AGL 98.86 0 No comment
    AGMO 98.98 0 No comment
    AGO1 99.33 0 No comment
    AGPAT2 95.70 0 No comment
    AGPS 96.48 0 No comment
    AGT 99.43 0 No comment
    AGTR2 99.44 0 No comment
    AGXT 99.20 0 No comment
    AHCY 99.37 0 No comment
    AHDC1 99.43 0 No comment
    AHI1 98.72 0 No comment
    AIFM1 96.67 0 No comment
    AIMP1 96.59 0 No comment
    AIMP2 99.14 0 No comment
    AIPL1 99.50 0 No comment
    AIRE 97.18 0 No comment
    AK1 99.47 0 No comment
    AK2 98.26 0 No comment
    AKAP17A 96.52 0 No comment
    AKAP4 99.11 0 No comment
    AKAP6 99.28 0 No comment
    AKR1C2 99.87 0 No comment
    AKR1D1 99.35 0 No comment
    AKT1 99.32 0 No comment
    AKT3 97.83 0 No comment
    ALAD 99.59 0 No comment
    ALDH18A1 99.49 0 No comment
    ALDH1A3 96.21 0 No comment
    ALDH3A2 98.54 0 No comment
    ALDH4A1 98.01 0 No comment
    ALDH5A1 96.17 0 No comment
    ALDH7A1 98.33 0 No comment
    ALDOA 99.58 0 No comment
    ALDOB 99.46 0 No comment
    ALG1 99.07 0 No comment
    ALG11 99.81 0 No comment
    ALG12 99.70 0 No comment
    ALG13 91.46 0 No comment
    ALG14 98.86 0 No comment
    ALG2 99.56 0 No comment
    ALG3 98.85 0 No comment
    ALG6 98.37 0 No comment
    ALG8 99.11 0 No comment
    ALG9 98.84 0 No comment
    ALKBH8 98.86 0 No comment
    ALMS1 99.15 0 No comment
    ALPL 99.07 0 No comment
    ALS2 98.98 0 No comment
    ALX1 99.69 0 No comment
    ALX3 96.22 0 No comment
    ALX4 99.35 0 No comment
    AMER1 99.70 0 No comment
    AMPD2 99.08 0 No comment
    AMT 99.79 0 No comment
    ANK3 99.57 0 No comment
    ANKH 99.15 0 No comment
    ANKRD11 97.84 0 No comment
    ANO10 98.75 0 No comment
    ANO3 99.47 0 No comment
    ANO5 99.01 0 No comment
    ANTXR1 94.84 0 No comment
    AP1B1 99.25 0 No comment
    AP1S1 95.66 0 No comment
    AP1S2 85.55 0 No comment
    AP2M1 98.28 0 No comment
    AP3B1 98.71 0 No comment
    AP3B2 98.28 0 No comment
    AP4B1 99.39 0 No comment
    AP4E1 98.53 0 No comment
    AP4M1 99.53 0 No comment
    AP4S1 99.30 0 No comment
    AP5Z1 98.97 0 No comment
    APC2 94.47 0 No comment
    COA8 95.39 0 No comment
    APTX 98.38 0 No comment
    AQP7 99.87 0 No comment
    AR 95.56 0 No comment
    ARCN1 96.22 0 No comment
    ARFGEF2 98.65 0 No comment
    ARG1 99.07 0 No comment
    ARHGAP31 99.50 0 No comment
    ARHGAP36 98.64 0 No comment
    ARHGAP6 95.05 0 No comment
    ARHGEF2 98.52 0 No comment
    ARHGEF4 99.40 0 No comment
    ARHGEF6 94.23 0 No comment
    ARHGEF9 96.24 0 No comment
    ARID1A 97.52 0 No comment
    ARID1B 95.00 0 No comment
    ARID2 99.53 0 No comment
    ARIH1 98.86 0 No comment
    ARL13B 97.87 0 No comment
    ARL14EP 97.37 0 No comment
    ARL6 98.82 0 No comment
    ODAD2 98.89 0 No comment
    ARMC9 98.71 0 No comment
    ARSA 99.35 0 No comment
    ARSB 96.85 0 No comment
    ARSL 94.37 0 No comment
    ARSF 93.30 0 No comment
    ARV1 99.17 0 No comment
    ARX 75.98 0 No comment
    ASAH1 98.03 0 No comment
    ASB12 96.10 0 No comment
    ASCC3 98.81 0 No comment
    ASCL1 98.32 0 No comment
    ASH1L 99.56 0 No comment
    ASL 98.41 0 No comment
    ASMT 92.35 0 No comment
    ASMTL 99.94 0 No comment
    ASNS 99.40 0 No comment
    ASPA 98.77 0 No comment
    ASPH 98.90 0 No comment
    ASPM 99.12 0 No comment
    ASS1 99.61 0 No comment
    ASTN1 99.12 0 No comment
    ASXL1 99.32 0 No comment
    ASXL2 94.54 0 No comment
    ASXL3 98.97 0 No comment
    ATAD1 95.52 0 No comment
    ATAD3A 98.34 0 No comment
    ATCAY 99.48 0 No comment
    ATIC 98.97 0 No comment
    ATL1 96.64 0 No comment
    ATM 98.13 0 No comment
    ATN1 98.73 0 No comment
    ATP13A2 99.25 0 No comment
    ATP1A1 98.42 0 No comment
    ATP1A2 98.77 0 No comment
    ATP1A3 99.51 0 No comment
    ATP2A2 98.83 0 No comment
    ATP2B3 97.71 0 No comment
    ATP6AP1 96.58 0 No comment
    ATP6AP2 93.72 0 No comment
    ATP6V0A2 99.30 0 No comment
    ATP6V1A 97.97 0 No comment
    ATP6V1B1 98.05 0 No comment
    ATP6V1B2 98.55 0 No comment
    ATP7A 96.22 0 No comment
    ATP7B 99.52 0 No comment
    ATP8A2 99.53 0 No comment
    ATP8B1 98.96 0 No comment
    ATR 98.89 0 No comment
    ATRX 95.60 0 No comment
    ATXN1 99.33 0 No comment
    ATXN10 98.33 0 No comment
    ATXN2 91.35 0 No comment
    ATXN3 98.93 0 No comment
    ATXN3L 99.08 0 No comment
    ATXN7 95.21 0 No comment
    AUH 99.00 0 No comment
    AUTS2 98.29 0 No comment
    AVP 86.48 0 No comment
    AVPR2 99.55 0 No comment
    AWAT2 98.86 0 No comment
    B3GALNT2 96.88 0 No comment
    B3GALT6 74.99 0 No comment
    B3GLCT 95.44 0 No comment
    B4GALNT1 98.73 0 No comment
    B4GALT1 97.25 0 No comment
    B4GALT7 93.89 0 No comment
    B9D1 98.92 0 No comment
    BBS1 99.26 0 No comment
    BBS10 99.67 0 No comment
    BBS12 99.69 0 No comment
    BBS2 98.90 0 No comment
    BBS4 98.91 0 No comment
    BBS5 98.35 0 No comment
    BBS7 99.11 0 No comment
    BBS9 98.84 0 No comment
    BCAP31 92.90 0 No comment
    BCKDHA 99.19 0 No comment
    BCKDHB 99.14 0 No comment
    BCKDK 98.03 0 No comment
    BCL11A 99.29 0 No comment
    BCL11B 95.65 0 No comment
    BCOR 98.20 0 No comment
    BCORL1 98.79 0 No comment
    BCS1L 99.07 0 No comment
    BDP1 99.48 0 No comment
    BEAN1 99.42 0 No comment
    BFSP2 99.16 0 No comment
    BGN 97.15 0 No comment
    BHLHA9 83.99 0 No comment
    BICD2 99.34 0 No comment
    BIN1 99.27 0 No comment
    BLM 97.69 0 No comment
    BMP15 94.45 0 No comment
    BMP4 99.03 0 No comment
    BMPER 99.17 0 No comment
    BMPR1B 99.45 0 No comment
    BOLA3 98.55 0 No comment
    BPIFB6 98.75 0 No comment
    BPTF 96.21 0 No comment
    BRAF 97.62 0 No comment
    BRAT1 98.61 0 No comment
    BRCA1 99.65 0 No comment
    BRCA2 98.74 0 No comment
    BRD4 90.53 0 No comment
    BRF1 97.49 0 No comment
    BRIP1 98.87 0 No comment
    BRPF1 99.09 0 No comment
    BRSK2 97.89 0 No comment
    BRWD3 96.19 0 No comment
    BSCL2 99.32 0 No comment
    BSND 99.48 0 No comment
    BTD 99.63 0 No comment
    BTK 96.82 0 No comment
    BUB1B 98.89 0 No comment
    C12ORF4 98.72 0 No comment
    C12ORF57 99.66 0 No comment
    MTRFR 98.21 0 No comment
    CCDC32 98.00 0 No comment
    VPS35L 98.65 0 No comment
    C19ORF12 98.79 0 No comment
    C2CD3 98.92 0 No comment
    PCARE 98.64 0 No comment
    DIPK2A 99.10 0 No comment
    ODAPH 99.74 0 No comment
    CPLANE1 98.94 0 No comment
    CFAP418 98.78 0 No comment
    C9ORF72 98.10 0 No comment
    CA2 99.35 0 No comment
    CA5A 99.23 0 No comment
    CA8 99.30 0 No comment
    CACNA1A 98.14 0 No comment
    CACNA1B 96.02 0 No comment
    CACNA1C 99.14 0 No comment
    CACNA1D 99.31 0 No comment
    CACNA1E 99.29 0 No comment
    CACNA1F 97.17 0 No comment
    CACNA1G 99.06 0 No comment
    CACNA1H 98.12 0 No comment
    CACNA1S 98.76 0 No comment
    CACNA2D2 95.24 0 No comment
    CACNA2D3 98.17 0 No comment
    CACNB4 99.35 0 No comment
    CACNG2 99.57 0 No comment
    CAD 99.05 0 No comment
    CAMK2A 99.63 0 No comment
    CAMK2B 97.56 0 No comment
    CAMK2G 96.97 0 No comment
    CAMTA1 99.08 0 No comment
    CANT1 98.12 0 No comment
    CAP1 99.44 0 No comment
    CAPN10 99.27 0 No comment
    CAPRIN1 99.09 0 No comment
    CAPZA2 96.21 0 No comment
    CARS1 99.79 0 No comment
    CARS2 96.59 0 No comment
    KNL1 96.88 0 No comment
    CASK 95.86 0 No comment
    CASP2 99.05 0 No comment
    CASR 99.36 0 No comment
    CBL 98.79 0 No comment
    CBS 99.88 0 No comment
    CC2D1A 98.90 0 No comment
    CC2D2A 98.66 0 No comment
    CCBE1 98.76 0 No comment
    CCDC103 99.47 0 No comment
    ODAD1 99.10 0 No comment
    CCDC115 99.59 0 No comment
    CCDC22 97.58 0 No comment
    SVBP 99.76 0 No comment
    CCDC39 98.58 0 No comment
    CCDC40 98.68 0 No comment
    CEP83 98.29 0 No comment
    CCDC47 98.08 0 No comment
    CCDC65 99.18 0 No comment
    CCDC78 99.72 0 No comment
    CCDC8 99.54 0 No comment
    CCDC88A 98.66 0 No comment
    CCDC88C 99.06 0 No comment
    CCNA2 99.24 0 No comment
    CCNB3 99.08 0 No comment
    CCND2 98.80 0 No comment
    CCNO 99.50 0 No comment
    CCT5 98.48 0 No comment
    CD96 98.95 0 No comment
    CD99 99.96 0 No comment
    CDC42 98.38 0 No comment
    CDC42BPB 99.25 0 No comment
    CDC45 99.38 0 No comment
    CDC6 98.74 0 No comment
    CDH11 99.46 0 No comment
    CDH15 99.37 0 No comment
    CDH2 99.12 0 No comment
    CDH23 98.80 0 No comment
    CDH3 99.16 0 No comment
    CDK10 99.78 0 No comment
    CDK13 95.98 0 No comment
    CDK16 98.07 0 No comment
    CDK19 99.08 0 No comment
    CDK5R1 99.67 0 No comment
    CDK5RAP2 99.35 0 No comment
    CDK8 96.11 0 No comment
    CDKL5 93.83 0 No comment
    CDKN1C 86.67 0 No comment
    CDON 98.33 0 No comment
    CDT1 91.10 0 No comment
    CENPF 98.91 0 No comment
    CENPJ 99.50 0 No comment
    CEP104 99.17 0 No comment
    CEP135 96.95 0 No comment
    CEP152 98.51 0 No comment
    CEP290 98.38 0 No comment
    CEP41 98.54 0 No comment
    CEP55 99.06 0 No comment
    CEP57 98.39 0 No comment
    CEP63 98.63 0 No comment
    CFP 97.99 0 No comment
    CHAMP1 99.90 0 No comment
    CHD2 98.65 0 No comment
    CHD3 98.02 0 No comment
    CHD4 99.40 0 No comment
    CHD7 99.13 0 No comment
    CHD8 99.13 0 No comment
    CHKB 97.91 0 No comment
    DDX11 98.90 0 No comment
    CHM 89.56 0 No comment
    CHMP1A 98.78 0 No comment
    CHRDL1 97.84 0 No comment
    CHRNA2 99.41 0 No comment
    CHRNA4 98.72 0 No comment
    CHRNB2 99.57 0 No comment
    CHRNG 99.02 0 No comment
    CHST14 98.06 0 No comment
    CHST3 99.63 0 No comment
    CHSY1 93.60 0 No comment
    CHUK 98.09 0 No comment
    CIB2 98.54 0 No comment
    CIC 98.17 0 No comment
    CISD2 97.44 0 No comment
    CIT 99.14 0 No comment
    CKAP2L 99.24 0 No comment
    CLCN2 99.53 0 No comment
    CLCN4 98.32 0 No comment
    CLCN5 98.19 0 No comment
    CLCN7 97.43 0 No comment
    CLCNKA 99.53 0 No comment
    CLCNKB 99.55 0 No comment
    CLDN19 98.68 0 No comment
    CLIC2 95.82 0 No comment
    CLN3 99.63 0 No comment
    CLN5 98.95 0 No comment
    CLN6 94.08 0 No comment
    CLN8 99.98 0 No comment
    CLP1 99.53 0 No comment
    CLPB 98.72 0 No comment
    CLPP 98.67 0 No comment
    CLTC 98.69 0 No comment
    CMC4 96.87 0 No comment
    CNKSR1 99.49 0 No comment
    CNKSR2 95.65 0 No comment
    CNNM2 99.22 0 No comment
    CNOT1 98.98 0 No comment
    CNOT2 99.08 0 No comment
    CNOT3 98.24 0 No comment
    CNTN3 99.26 0 No comment
    CNTN4 99.15 0 No comment
    CNTNAP2 99.12 0 No comment
    COA3 99.34 0 No comment
    COA5 99.73 0 No comment
    COASY 98.90 0 No comment
    COG1 99.22 0 No comment
    COG4 99.26 0 No comment
    COG5 98.95 0 No comment
    COG6 98.53 0 No comment
    COG7 99.10 0 No comment
    COG8 99.58 0 No comment
    COL10A1 98.73 0 No comment
    COL11A1 99.16 0 No comment
    COL11A2 99.40 0 No comment
    COL18A1 98.80 0 No comment
    COL1A1 98.56 0 No comment
    COL1A2 99.53 0 No comment
    COL25A1 99.68 0 No comment
    COL2A1 99.63 0 No comment
    COL4A1 98.90 0 No comment
    COL4A2 98.81 0 No comment
    COL4A3 98.60 0 No comment
    CERT1 98.80 0 No comment
    COL4A4 99.18 0 No comment
    COL4A6 96.60 0 No comment
    COL6A1 99.30 0 No comment
    COL6A3 99.58 0 No comment
    COL9A1 99.37 0 No comment
    COL9A2 99.12 0 No comment
    COL9A3 95.16 0 No comment
    COLEC10 98.66 0 No comment
    COLEC11 99.77 0 No comment
    COMP 99.30 0 No comment
    COQ2 97.65 0 No comment
    COQ4 98.65 0 No comment
    COQ5 98.41 0 No comment
    COQ9 98.96 0 No comment
    COX10 99.59 0 No comment
    COX14 97.55 0 No comment
    COX15 99.27 0 No comment
    COX6B1 99.22 0 No comment
    COX7B 98.33 0 No comment
    CP 98.56 0 No comment
    CPA6 99.18 0 No comment
    HOMER2 98.16 0 No comment
    CPS1 99.26 0 No comment
    CPXCR1 98.61 0 No comment
    CRADD 98.71 0 No comment
    CRB1 99.41 0 No comment
    CRB2 98.33 0 No comment
    CRBN 99.00 0 No comment
    CREBBP 99.20 0 No comment
    CRLF2 96.34 0 No comment
    CRX 99.30 0 No comment
    CRYAA 99.93 0 No comment
    CRYBA1 99.47 0 No comment
    CRYBA4 99.30 0 No comment
    CRYBB1 99.71 0 No comment
    CRYBB2 99.21 0 No comment
    CRYBB3 97.71 0 No comment
    CRYGC 99.70 0 No comment
    CRYGD 99.70 0 No comment
    CSDE1 99.37 0 No comment
    CSF1R 98.97 0 No comment
    CSF2RA 88.66 0 No comment
    CSNK1G1 98.84 0 No comment
    CSNK2A1 99.27 0 No comment
    CSNK2B 99.56 0 No comment
    CSPP1 98.55 0 No comment
    CSTB 99.72 0 No comment
    CSTF2 95.94 0 No comment
    CTBP1 96.89 0 No comment
    CTC1 99.15 0 No comment
    CTCF 98.88 0 No comment
    CTDP1 96.55 0 No comment
    CCN2 97.14 0 No comment
    CTNNA2 98.80 0 No comment
    CTNNB1 99.57 0 No comment
    CTNND2 94.20 0 No comment
    CTNS 99.36 0 No comment
    CTPS2 96.99 0 No comment
    CTSA 99.45 0 No comment
    CTSD 99.18 0 No comment
    CTSF 96.71 0 No comment
    CTSK 99.73 0 No comment
    CTTNBP2 99.25 0 No comment
    CTU2 98.59 0 No comment
    CUL3 98.83 0 No comment
    CUL4B 92.06 0 No comment
    CUL7 99.50 0 No comment
    CUX1 96.61 0 No comment
    CUX2 98.80 0 No comment
    CWC27 97.65 0 No comment
    CWF19L1 98.83 0 No comment
    CFAP47 93.78 0 No comment
    STEEP1 92.87 0 No comment
    CXorf58 94.93 0 No comment
    CYB5R3 97.94 0 No comment
    CYC1 91.11 0 No comment
    CYFIP2 98.67 0 No comment
    CYP1B1 99.46 0 No comment
    CYP27A1 99.02 0 No comment
    CYP2U1 96.42 0 No comment
    CYP7B1 97.88 0 No comment
    D2HGDH 99.43 0 No comment
    DAB1 98.49 0 No comment
    DACT1 97.23 0 No comment
    DAG1 99.84 0 No comment
    DARS1 97.83 0 No comment
    DARS2 98.51 0 No comment
    DBT 98.43 0 No comment
    DCAF17 98.20 0 No comment
    DCC 99.25 0 No comment
    DCHS1 99.42 0 No comment
    DCHS2 96.72 0 No comment
    DCPS 99.51 0 No comment
    DCTN1 99.19 0 No comment
    DCX 97.69 0 No comment
    DDB2 99.44 0 No comment
    DDC 98.92 0 No comment
    DDHD1 98.96 0 No comment
    DDHD2 97.51 0 No comment
    DDOST 99.21 0 No comment
    DDR2 98.02 0 No comment
    INTS6L 94.69 0 No comment
    DDX3X 94.86 0 No comment
    DDX53 99.21 0 No comment
    DDX58 98.54 0 No comment
    DDX59 98.74 0 No comment
    DDX6 99.28 0 No comment
    DEAF1 94.52 0 No comment
    DECR1 98.30 0 No comment
    DEGS1 98.48 0 No comment
    DENND5A 98.76 0 No comment
    DEPDC5 98.88 0 No comment
    DGKH 97.01 0 No comment
    DHCR24 99.02 0 No comment
    DHCR7 99.47 0 No comment
    DHDDS 97.02 0 No comment
    DHFR 96.94 0 No comment
    DHODH 99.05 0 No comment
    DHPS 98.61 0 No comment
    DHRSX 91.20 0 No comment
    DHTKD1 98.94 0 No comment
    DHX30 98.83 0 No comment
    DIAPH1 91.23 0 No comment
    DIAPH2 87.29 0 No comment
    DIP2B 98.90 0 No comment
    DIS3L2 98.91 0 No comment
    DKC1 93.86 0 No comment
    DLAT 98.39 0 No comment
    DLD 98.88 0 No comment
    DLG1 98.14 0 No comment
    DLG2 99.29 0 No comment
    DLG3 97.25 0 No comment
    DLG4 99.13 0 No comment
    DLGAP2 99.74 0 No comment
    DLL3 86.64 0 No comment
    DLL4 99.36 0 No comment
    DMD 96.45 0 No comment
    DMP1 99.65 0 No comment
    DMPK 99.32 0 No comment
    DMXL2 98.36 0 No comment
    DNA2 98.22 0 No comment
    DNAAF3 98.65 0 No comment
    DNAJC12 99.66 0 No comment
    DNAJC19 96.91 0 No comment
    DNAJC3 96.14 0 No comment
    DNM1 97.82 0 No comment
    DNM1L 98.63 0 No comment
    DNM2 98.34 0 No comment
    DNMT1 98.21 0 No comment
    DNMT3A 99.20 0 No comment
    DNMT3B 99.29 0 No comment
    DOCK11 92.03 0 No comment
    DOCK3 98.52 0 No comment
    DOCK6 99.05 0 No comment
    DOCK7 98.51 0 No comment
    DOCK8 99.20 0 No comment
    DOLK 99.80 0 No comment
    DONSON 96.21 0 No comment
    DPAGT1 99.38 0 No comment
    DPF1 98.48 0 No comment
    DPF2 99.34 0 No comment
    DPF3 99.50 0 No comment
    DPH1 99.38 0 No comment
    DPM1 99.42 0 No comment
    DPM2 99.20 0 No comment
    DPM3 99.69 0 No comment
    DPP6 92.06 0 No comment
    DPYD 99.12 0 No comment
    DRD2 99.36 0 No comment
    DSCAM 98.89 0 No comment
    VPS26C 99.43 0 No comment
    DSPP 98.82 0 No comment
    DST 98.99 0 No comment
    DSTYK 99.35 0 No comment
    DVL1 99.68 0 No comment
    DVL3 98.80 0 No comment
    DYM 97.55 0 No comment
    DYNC1H1 99.37 0 No comment
    DYNC1I2 98.87 0 No comment
    DYNC2H1 97.67 0 No comment
    DYRK1A 99.47 0 No comment
    DNAAF4 98.09 0 No comment
    EBF3 99.40 0 No comment
    EBP 98.55 0 No comment
    ECEL1 97.04 0 No comment
    EDA 97.49 0 No comment
    EDNRA 99.24 0 No comment
    EDNRB 98.60 0 No comment
    EED 97.73 0 No comment
    EEF1A2 92.77 0 No comment
    EEF1B2 97.60 0 No comment
    EFHC1 98.17 0 No comment
    EFNB1 98.53 0 No comment
    EFTUD2 98.05 0 No comment
    EGR2 99.61 0 No comment
    EHMT1 98.17 0 No comment
    EIF2A 97.83 0 No comment
    EIF2AK1 98.91 0 No comment
    EIF2AK3 97.90 0 No comment
    EIF2S3 97.86 0 No comment
    EIF3F 99.59 0 No comment
    EIF4A3 99.56 0 No comment
    EIF4G1 99.24 0 No comment
    ELAC2 99.51 0 No comment
    ELK1 98.30 0 No comment
    ELN 99.54 0 No comment
    ELOVL4 99.51 0 No comment
    ELOVL5 98.85 0 No comment
    ELP2 99.00 0 No comment
    EMC1 99.43 0 No comment
    EMG1 99.17 0 No comment
    EML1 98.84 0 No comment
    EMX2 99.75 0 No comment
    EN2 95.92 0 No comment
    ENOX2 95.88 0 No comment
    ENPP1 95.08 0 No comment
    TEPSIN 99.67 0 No comment
    ENTPD1 97.83 0 No comment
    EOGT 90.07 0 No comment
    EOMES 99.11 0 No comment
    EP300 99.21 0 No comment
    EPB41L1 99.19 0 No comment
    EPG5 98.98 0 No comment
    EPM2A 91.75 0 No comment
    EPPK1 99.37 0 No comment
    SELENOI 98.64 0 No comment
    ERCC1 97.35 0 No comment
    ERCC2 98.26 0 No comment
    ERCC3 99.57 0 No comment
    ERCC4 99.08 0 No comment
    ERCC5 99.17 0 No comment
    ERCC6 99.25 0 No comment
    ERCC6L2 98.36 0 No comment
    ERCC8 99.23 0 No comment
    ERF 99.27 0 No comment
    ERLIN2 99.21 0 No comment
    ERMARD 99.76 0 No comment
    ESCO2 97.40 0 No comment
    ESX1 96.03 0 No comment
    ETFA 97.87 0 No comment
    ETFB 99.51 0 No comment
    ETFDH 97.92 0 No comment
    ETHE1 98.75 0 No comment
    EVC 94.14 0 No comment
    EVC2 97.83 0 No comment
    EXOSC3 98.97 0 No comment
    EXOSC8 98.32 0 No comment
    EXT1 99.14 0 No comment
    EXT2 99.43 0 No comment
    EXTL3 99.80 0 No comment
    EYA1 99.11 0 No comment
    EZH2 96.67 0 No comment
    F5 99.15 0 No comment
    FA2H 97.25 0 No comment
    FAAH2 92.70 0 No comment
    FAH 96.88 0 No comment
    OTULIN 89.08 0 No comment
    FAM111A 99.59 0 No comment
    FAM111B 99.76 0 No comment
    FAM120C 96.47 0 No comment
    FAM126A 99.23 0 No comment
    RETREG1 97.37 0 No comment
    FHIP2A 97.70 0 No comment
    FAM161A 99.42 0 No comment
    FAM20A 94.00 0 No comment
    FAM20C 96.33 0 No comment
    FAM47B 99.81 0 No comment
    CCNQ 84.67 0 No comment
    FANCA 98.47 0 No comment
    FANCB 97.15 0 No comment
    FANCC 99.30 0 No comment
    FANCD2 99.02 0 No comment
    FANCE 95.74 0 No comment
    FANCF 99.29 0 No comment
    FANCG 98.43 0 No comment
    FANCI 98.29 0 No comment
    FAR1 97.96 0 No comment
    FARS2 99.13 0 No comment
    FASN 99.66 0 No comment
    FAT4 99.73 0 No comment
    FBLN5 97.72 0 No comment
    FBN1 99.18 0 No comment
    FBN2 99.13 0 No comment
    FBP1 99.54 0 No comment
    FBXL3 98.89 0 No comment
    FBXL4 99.22 0 No comment
    FBXO11 98.18 0 No comment
    FBXO25 98.32 0 No comment
    FBXO7 99.44 0 No comment
    FBXO8 99.00 0 No comment
    FBXW11 98.85 0 No comment
    FBXW4 98.88 0 No comment
    FDFT1 96.29 0 No comment
    FDXR 99.16 0 No comment
    FEM1B 98.39 0 No comment
    FGD1 95.65 0 No comment
    FGD4 97.87 0 No comment
    FGF10 98.79 0 No comment
    FGF12 99.23 0 No comment
    FGF14 99.47 0 No comment
    FGF3 95.52 0 No comment
    FGFR1 99.06 0 No comment
    FGFR2 99.55 0 No comment
    FGFR3 98.01 0 No comment
    FH 98.88 0 No comment
    FHL1 98.74 0 No comment
    FIBP 99.40 0 No comment
    FIG4 98.99 0 No comment
    FKBP14 98.92 0 No comment
    FKBP6 99.52 0 No comment
    FKBPL 99.97 0 No comment
    FKRP 97.44 0 No comment
    FKTN 98.78 0 No comment
    FLAD1 99.48 0 No comment
    FLNA 98.47 0 No comment
    FLNB 98.87 0 No comment
    FLT4 98.94 0 No comment
    FLVCR1 98.36 0 No comment
    FLVCR2 99.65 0 No comment
    FMN2 96.08 0 No comment
    FMR1 96.13 0 No comment
    FOLR1 99.56 0 No comment
    FOXC1 91.49 0 No comment
    FOXC2 93.24 0 No comment
    FOXE1 88.43 0 No comment
    FOXE3 70.11 0 No comment
    FOXF1 98.60 0 No comment
    FOXG1 78.93 0 No comment
    FOXN1 99.64 0 No comment
    FOXP1 98.65 0 No comment
    FOXP2 98.84 0 No comment
    FOXP3 95.40 0 No comment
    FOXRED1 98.46 0 No comment
    FRAS1 98.89 0 No comment
    FREM1 99.07 0 No comment
    FREM2 99.25 0 No comment
    FRMD7 97.20 0 No comment
    FRMPD4 97.55 0 No comment
    FRRS1L 82.94 0 No comment
    FRY 99.11 0 No comment
    FTCD 98.94 0 No comment
    FTL 97.48 0 No comment
    FTO 99.41 0 No comment
    FTSJ1 98.72 0 No comment
    FUCA1 98.66 0 No comment
    FCSK 99.13 0 No comment
    FUT8 98.58 0 No comment
    FXN 96.73 0 No comment
    FYCO1 99.38 0 No comment
    FZD3 99.31 0 No comment
    FZD6 99.22 0 No comment
    G6PC3 99.48 0 No comment
    GAA 99.39 0 No comment
    GAB3 94.68 0 No comment
    GABBR2 96.86 0 No comment
    GABRA1 99.65 0 No comment
    GABRA2 99.34 0 No comment
    GABRA5 99.43 0 No comment
    GABRB2 98.99 0 No comment
    GABRB3 99.65 0 No comment
    GABRG2 91.85 0 No comment
    GABRG3 99.67 0 No comment
    GABRQ 96.87 0 No comment
    GAD1 99.31 0 No comment
    GALC 98.53 0 No comment
    GALE 98.79 0 No comment
    GALK1 99.12 0 No comment
    GALNS 98.20 0 No comment
    GALNT2 99.25 0 No comment
    GALT 99.67 0 No comment
    GAMT 98.08 0 No comment
    GAN 98.97 0 No comment
    GAS8 98.96 0 No comment
    GATA2 99.39 0 No comment
    GATA4 94.57 0 No comment
    GATA6 90.43 0 No comment
    GATAD2B 99.84 0 No comment
    GATM 99.31 0 No comment
    GBA 99.80 0 No comment
    GBA2 99.40 0 No comment
    GBE1 98.14 0 No comment
    GCDH 99.26 0 No comment
    GCH1 98.31 0 No comment
    GCK 99.00 0 No comment
    GCSH 98.69 0 No comment
    GDAP1 99.61 0 No comment
    GDF5 98.79 0 No comment
    GDF6 95.02 0 No comment
    GDI1 96.43 0 No comment
    GEMIN4 99.84 0 No comment
    GFAP 99.47 0 No comment
    GFER 96.28 0 No comment
    GFM1 98.59 0 No comment
    GHR 98.44 0 No comment
    GIGYF2 98.79 0 No comment
    GJA1 99.86 0 No comment
    GJA3 98.78 0 No comment
    GJA8 99.16 0 No comment
    GJB1 99.27 0 No comment
    GJB2 99.76 0 No comment
    GJB3 99.85 0 No comment
    GJC2 86.86 0 No comment
    GK 95.46 0 No comment
    GLB1 99.09 0 No comment
    GLDC 98.46 0 No comment
    GLE1 99.11 0 No comment
    GLI2 98.54 0 No comment
    GLI3 99.24 0 No comment
    GLIS3 99.02 0 No comment
    GLMN 98.58 0 No comment
    GLRA1 98.32 0 No comment
    GLRA2 91.37 0 No comment
    GLUD1 97.56 0 No comment
    GLUL 99.52 0 No comment
    GLYCTK 99.68 0 No comment
    GM2A 99.64 0 No comment
    GMNN 96.21 0 No comment
    GMPPA 99.75 0 No comment
    GMPPB 98.26 0 No comment
    GNAI1 98.99 0 No comment
    GNAI2 98.07 0 No comment
    GNAI3 97.86 0 No comment
    GNAL 97.43 0 No comment
    GNAO1 98.80 0 No comment
    GNAS 99.61 0 No comment
    GNB1 98.37 0 No comment
    GNB5 99.14 0 No comment
    GNE 99.40 0 No comment
    GNPAT 96.78 0 No comment
    GNPTAB 99.40 0 No comment
    GNPTG 97.82 0 No comment
    GNS 99.15 0 No comment
    GON4L 99.53 0 No comment
    GORAB 98.74 0 No comment
    GOSR2 99.40 0 No comment
    GOT2 99.15 0 No comment
    GPAA1 99.20 0 No comment
    GPC3 95.93 0 No comment
    GPC4 97.39 0 No comment
    GPHN 99.23 0 No comment
    ADGRG4 98.24 0 No comment
    ADGRG6 98.33 0 No comment
    GPR179 99.76 0 No comment
    ADGRG1 99.61 0 No comment
    ADGRV1 98.49 0 No comment
    GPRASP1 99.60 0 No comment
    GPSM2 98.63 0 No comment
    GPT2 95.94 0 No comment
    GRB14 97.87 0 No comment
    GRHL3 98.78 0 No comment
    GRIA1 98.02 0 No comment
    GRIA2 98.58 0 No comment
    GRIA3 92.43 0 No comment
    GRIA4 98.61 0 No comment
    GRID2 99.29 0 No comment
    GRIK2 99.11 0 No comment
    GRIN1 99.26 0 No comment
    GRIN2A 99.71 0 No comment
    GRIN2B 99.64 0 No comment
    GRIN2D 78.36 0 No comment
    GRIP1 99.51 0 No comment
    GRM1 98.88 0 No comment
    GRM6 93.42 0 No comment
    GRN 99.81 0 No comment
    GSPT2 99.68 0 No comment
    GSS 99.18 0 No comment
    GSX2 99.55 0 No comment
    GTF2E2 98.84 0 No comment
    GTF2H5 98.97 0 No comment
    GTF3C3 98.70 0 No comment
    GTPBP2 98.27 0 No comment
    GTPBP3 98.65 0 No comment
    GTPBP8 98.83 0 No comment
    GUCY2C 99.16 0 No comment
    GUSB 98.83 0 No comment
    GYS2 99.38 0 No comment
    H3-3A 99.28 0 No comment
    H3-3B 99.69 0 No comment
    HACE1 98.93 0 No comment
    HADH 98.21 0 No comment
    HADHA 99.44 0 No comment
    HADHB 99.06 0 No comment
    HARS2 97.76 0 No comment
    HAUS7 95.60 0 No comment
    HAX1 99.52 0 No comment
    HCCS 97.34 0 No comment
    HCFC1 97.80 0 No comment
    HCN1 98.04 0 No comment
    HDAC4 99.39 0 No comment
    HDAC6 97.59 0 No comment
    HDAC8 97.78 0 No comment
    PUDP 97.74 0 No comment
    HECW2 98.89 0 No comment
    HEPACAM 98.19 0 No comment
    HERC1 99.17 0 No comment
    HERC2 99.81 0 No comment
    HESX1 99.33 0 No comment
    HEXA 99.52 0 No comment
    HEXB 98.68 0 No comment
    HGSNAT 93.69 0 No comment
    HIBCH 99.31 0 No comment
    HINT1 99.52 0 No comment
    H1-4 98.83 0 No comment
    H4C2 99.68 0 No comment
    H4C3 99.67 0 No comment
    H4C11 99.75 0 No comment
    H3-4 99.95 0 No comment
    HIVEP2 99.83 0 No comment
    HK1 99.43 0 No comment
    HLCS 95.35 0 No comment
    HMGB3 95.15 0 No comment
    HMGCL 99.25 0 No comment
    HMGCS2 98.52 0 No comment
    HNF1B 99.68 0 No comment
    HNF4A 99.42 0 No comment
    HNMT 99.40 0 No comment
    HNRNPH2 98.98 0 No comment
    HNRNPK 99.14 0 No comment
    HNRNPR 99.29 0 No comment
    HNRNPU 99.13 0 No comment
    HOXA1 99.10 0 No comment
    HOXA13 75.31 0 No comment
    HOXC13 98.67 0 No comment
    HOXD10 99.56 0 No comment
    HOXD13 96.00 0 No comment
    HPD 99.12 0 No comment
    HPGD 98.68 0 No comment
    HPRT1 91.01 0 No comment
    HPS1 98.99 0 No comment
    HPSE2 99.23 0 No comment
    HR 98.73 0 No comment
    HRAS 99.96 0 No comment
    HS6ST2 98.48 0 No comment
    HSD17B10 99.12 0 No comment
    HSD17B4 98.53 0 No comment
    HSD3B7 93.20 0 No comment
    HSF4 98.76 0 No comment
    HSPD1 99.48 0 No comment
    HSPG2 99.24 0 No comment
    HTRA2 98.32 0 No comment
    HTT 98.29 0 No comment
    HUWE1 96.58 0 No comment
    HYAL1 99.27 0 No comment
    HYDIN 98.89 0 No comment
    HYLS1 99.56 0 No comment
    IARS1 98.84 0 No comment
    IARS2 98.71 0 No comment
    IBA57 96.07 0 No comment
    IDH2 94.56 0 No comment
    IDS 97.02 0 No comment
    IDUA 94.91 0 No comment
    IER3IP1 98.58 0 No comment
    IFIH1 98.73 0 No comment
    IFITM5 99.18 0 No comment
    IFNAR2 99.17 0 No comment
    IFT122 98.98 0 No comment
    IFT140 99.19 0 No comment
    IFT172 99.43 0 No comment
    IFT27 99.45 0 No comment
    IFT43 99.37 0 No comment
    IFT80 98.80 0 No comment
    IGBP1 98.38 0 No comment
    IGF1 98.50 0 No comment
    IGF1R 99.32 0 No comment
    IGF2 98.94 0 No comment
    IGHMBP2 99.36 0 No comment
    IGSF1 95.84 0 No comment
    IHH 98.73 0 No comment
    IKBKG 96.16 0 No comment
    IL11RA 99.17 0 No comment
    IL1RAPL1 97.07 0 No comment
    IL1RAPL2 97.20 0 No comment
    IL3RA 99.85 0 No comment
    ILF2 99.02 0 No comment
    BPNT2 99.21 0 No comment
    INF2 94.80 0 No comment
    INPP4A 99.16 0 No comment
    INPP5E 98.98 0 No comment
    INPP5K 99.11 0 No comment
    INPPL1 98.07 0 No comment
    INSR 96.93 0 No comment
    INTS1 99.07 0 No comment
    INTS6 98.76 0 No comment
    INTS8 97.79 0 No comment
    IQSEC1 96.84 0 No comment
    IQSEC2 88.71 0 No comment
    IQSEC3 99.28 0 No comment
    IRAK1 94.66 0 No comment
    IRF2BPL 97.48 0 No comment
    IRF6 98.80 0 No comment
    IRX5 98.01 0 No comment
    ISCA2 99.85 0 No comment
    CRPPA 86.74 0 No comment
    ITCH 94.90 0 No comment
    ITGA3 99.19 0 No comment
    ITGA4 96.65 0 No comment
    ITGA7 99.02 0 No comment
    ITGB6 99.17 0 No comment
    ITIH6 96.21 0 No comment
    ITPA 99.87 0 No comment
    ITPR1 98.49 0 No comment
    IVD 99.26 0 No comment
    JAG1 99.05 0 No comment
    JAGN1 99.34 0 No comment
    JAK3 98.80 0 No comment
    JAM3 98.99 0 No comment
    KANK1 98.55 0 No comment
    KANSL1 99.38 0 No comment
    KARS1 99.19 0 No comment
    KAT5 99.33 0 No comment
    KAT6A 99.45 0 No comment
    KAT6B 99.14 0 No comment
    KAT8 96.84 0 No comment
    KATNAL2 99.21 0 No comment
    KATNB1 99.24 0 No comment
    KBTBD13 98.92 0 No comment
    KCNA1 99.84 0 No comment
    KCNA2 99.87 0 No comment
    KCNB1 99.55 0 No comment
    KCNC1 99.57 0 No comment
    KCNC3 79.69 0 No comment
    KCND1 97.45 0 No comment
    KCND3 99.47 0 No comment
    KCNE1 99.99 0 No comment
    KCNH1 99.06 0 No comment
    KCNH5 98.52 0 No comment
    KCNJ10 99.06 0 No comment
    KCNJ11 99.50 0 No comment
    KCNJ6 99.58 0 No comment
    KCNK12 94.89 0 No comment
    KCNK4 98.87 0 No comment
    KCNK9 99.78 0 No comment
    KCNMA1 98.89 0 No comment
    KCNN3 99.58 0 No comment
    KCNQ1 94.82 0 No comment
    KCNQ2 98.91 0 No comment
    KCNQ3 97.63 0 No comment
    KCNQ5 98.24 0 No comment
    KCNT1 98.83 0 No comment
    KCNT2 98.81 0 No comment
    KCTD1 99.70 0 No comment
    KCTD3 99.34 0 No comment
    KCTD7 98.45 0 No comment
    KDM1A 97.93 0 No comment
    KDM3B 98.22 0 No comment
    KDM5A 99.06 0 No comment
    KDM5B 98.98 0 No comment
    KDM5C 98.12 0 No comment
    KDM6A 95.37 0 No comment
    KDM6B 97.67 0 No comment
    TMEM94 99.37 0 No comment
    WASHC5 98.20 0 No comment
    RUBCN 99.10 0 No comment
    KIAA0586 93.75 0 No comment
    KIAA1109 98.44 0 No comment
    KIFBP 99.27 0 No comment
    RIC1 99.07 0 No comment
    LNPK 99.07 0 No comment
    NEXMIF 99.59 0 No comment
    KIDINS220 99.40 0 No comment
    KIF11 98.60 0 No comment
    KIF14 98.97 0 No comment
    KIF1A 99.09 0 No comment
    KIF1C 99.18 0 No comment
    KIF21A 98.56 0 No comment
    KIF22 98.71 0 No comment
    KIF26B 99.62 0 No comment
    KIF2A 98.32 0 No comment
    KIF4A 96.82 0 No comment
    KIF5A 97.77 0 No comment
    KIF5C 96.11 0 No comment
    KIF7 96.34 0 No comment
    KIRREL3 98.99 0 No comment
    KIT 99.30 0 No comment
    KLF1 99.27 0 No comment
    KLF7 99.57 0 No comment
    KLF8 96.17 0 No comment
    KLHL15 99.48 0 No comment
    KLHL21 97.63 0 No comment
    KLHL34 97.50 0 No comment
    KLHL4 96.56 0 No comment
    KLHL40 99.52 0 No comment
    KLHL7 99.04 0 No comment
    KMT2A 98.08 0 No comment
    KMT2B 96.01 0 No comment
    KMT2C 99.21 0 No comment
    KMT2D 99.70 0 No comment
    KMT2E 98.57 0 No comment
    KPTN 98.80 0 No comment
    KRAS 97.27 0 No comment
    KRIT1 98.55 0 No comment
    L1CAM 97.47 0 No comment
    L2HGDH 98.33 0 No comment
    LAMA1 99.36 0 No comment
    LAMA2 99.11 0 No comment
    LAMB1 99.38 0 No comment
    LAMB2 99.40 0 No comment
    LAMC3 97.47 0 No comment
    LAMP2 95.99 0 No comment
    LARGE1 99.44 0 No comment
    LARP7 97.05 0 No comment
    LARS2 99.25 0 No comment
    LAS1L 98.38 0 No comment
    LBR 99.13 0 No comment
    LDB3 95.69 0 No comment
    LEMD3 98.30 0 No comment
    P3H1 99.32 0 No comment
    LFNG 80.45 0 No comment
    LGI1 99.81 0 No comment
    LGI4 99.14 0 No comment
    LHFPL3 95.05 0 No comment
    LHX3 99.03 0 No comment
    LHX4 99.11 0 No comment
    LIAS 98.84 0 No comment
    LIG4 99.71 0 No comment
    LIMK1 99.08 0 No comment
    LINGO1 99.68 0 No comment
    LINS1 98.96 0 No comment
    LIPT1 98.07 0 No comment
    LIPT2 97.11 0 No comment
    LITAF 99.34 0 No comment
    LMAN2L 99.15 0 No comment
    LMBRD1 96.71 0 No comment
    LMNA 98.89 0 No comment
    LMX1B 99.74 0 No comment
    LONP1 99.06 0 No comment
    LOXHD1 99.14 0 No comment
    LRAT 99.56 0 No comment
    LRP1 98.97 0 No comment
    LRP2 99.08 0 No comment
    LRP4 98.69 0 No comment
    LRP5 97.97 0 No comment
    LRPPRC 98.65 0 No comment
    LRRC32 99.45 0 No comment
    DNAAF11 99.52 0 No comment
    LRRK1 99.22 0 No comment
    LRRK2 98.24 0 No comment
    LSS 99.87 0 No comment
    LTBP2 98.85 0 No comment
    LTBP3 98.16 0 No comment
    LYRM7 95.36 0 No comment
    LYST 98.97 0 No comment
    LZTFL1 98.88 0 No comment
    LZTR1 99.05 0 No comment
    MAB21L1 99.89 0 No comment
    MAB21L2 99.46 0 No comment
    MACC1 99.56 0 No comment
    MACF1 98.64 0 No comment
    MADD 98.87 0 No comment
    MAF 78.51 0 No comment
    MAFB 99.20 0 No comment
    MAGEA11 99.42 0 No comment
    MAGEB1 99.65 0 No comment
    MAGEB10 99.72 0 No comment
    MAGEB2 99.51 0 No comment
    MAGEC1 98.27 0 No comment
    MAGEC3 96.41 0 No comment
    MAGED1 97.72 0 No comment
    MAGEL2 99.77 0 No comment
    MAGI2 92.15 0 No comment
    MAGIX 91.35 0 No comment
    MAGT1 95.72 0 No comment
    MAN1B1 97.68 0 No comment
    MAN2B1 98.69 0 No comment
    MANBA 98.99 0 No comment
    MAOA 92.59 0 No comment
    MAOB 96.46 0 No comment
    MAP1B 99.62 0 No comment
    MAP2K1 98.93 0 No comment
    MAP2K2 99.30 0 No comment
    MAP3K1 93.46 0 No comment
    MAP3K15 81.00 0 No comment
    MAP3K7 98.96 0 No comment
    MAP7D3 93.50 0 No comment
    MAPK10 99.23 0 No comment
    MAPK8IP3 99.17 0 No comment
    MAPRE2 99.34 0 No comment
    MAPT 99.44 0 No comment
    MASP1 99.32 0 No comment
    MAST1 98.94 0 No comment
    MAT1A 99.31 0 No comment
    MATN3 94.73 0 No comment
    MBD5 99.80 0 No comment
    MBNL3 97.64 0 No comment
    MBOAT7 99.23 0 No comment
    MBTPS2 97.35 0 No comment
    MC2R 99.83 0 No comment
    MCCC1 99.36 0 No comment
    MCCC2 99.42 0 No comment
    MCEE 99.73 0 No comment
    MCM3AP 99.17 0 No comment
    MCM9 99.49 0 No comment
    MCOLN1 98.09 0 No comment
    MCPH1 97.71 0 No comment
    MDH2 99.26 0 No comment
    MECP2 89.64 0 No comment
    MECR 98.83 0 No comment
    MED12 97.94 0 No comment
    MED12L 98.99 0 No comment
    MED13 98.50 0 No comment
    MED13L 99.39 0 No comment
    MED17 98.61 0 No comment
    MED23 98.85 0 No comment
    MED25 97.95 0 No comment
    MEF2C 99.19 0 No comment
    MEGF10 98.25 0 No comment
    MEGF8 99.01 0 No comment
    MEIS2 99.60 0 No comment
    MESP2 98.01 0 No comment
    MET 99.32 0 No comment
    METTL23 99.70 0 No comment
    METTL5 94.29 0 No comment
    MFF 98.90 0 No comment
    MFRP 98.32 0 No comment
    MFSD2A 98.61 0 No comment
    MFSD8 99.49 0 No comment
    MGAT2 99.31 0 No comment
    MGAT5B 98.30 0 No comment
    MGP 99.47 0 No comment
    MIB1 98.13 0 No comment
    MICU1 99.39 0 No comment
    MID1 98.26 0 No comment
    MITF 99.17 0 No comment
    MKKS 99.47 0 No comment
    MKS1 98.74 0 No comment
    MLC1 98.91 0 No comment
    MLH1 98.70 0 No comment
    MLYCD 94.43 0 No comment
    MMAA 98.59 0 No comment
    MMAB 99.44 0 No comment
    MMACHC 99.23 0 No comment
    MMADHC 98.97 0 No comment
    MMP13 98.47 0 No comment
    MMP21 97.96 0 No comment
    MN1 99.12 0 No comment
    MNX1 68.62 0 No comment
    MOCS1 99.12 0 No comment
    MOCS2 99.33 0 No comment
    MOGS 98.80 0 No comment
    MORC4 92.98 0 No comment
    MPDU1 97.72 0 No comment
    MPDZ 99.06 0 No comment
    MPI 99.09 0 No comment
    MPLKIP 99.41 0 No comment
    MPV17 99.32 0 No comment
    MPZ 99.26 0 No comment
    MRAP 99.40 0 No comment
    MRE11 98.82 0 No comment
    MRPS22 99.08 0 No comment
    MRPS34 97.34 0 No comment
    MSL3 95.17 0 No comment
    MSMO1 98.59 0 No comment
    MSX1 98.22 0 No comment
    MSX2 99.75 0 No comment
    MTF1 98.69 0 No comment
    MTFMT 98.17 0 No comment
    MTHFR 97.78 0 No comment
    MTM1 96.15 0 No comment
    MTMR1 88.31 0 No comment
    MTMR14 99.36 0 No comment
    MTMR2 98.85 0 No comment
    MTMR8 95.90 0 No comment
    MTO1 93.67 0 No comment
    MTOR 98.53 0 No comment
    MTPAP 98.83 0 No comment
    MTR 99.25 0 No comment
    MTRR 99.33 0 No comment
    MTTP 99.03 0 No comment
    MMUT 98.64 0 No comment
    MVK 99.52 0 No comment
    MXRA5 98.86 0 No comment
    MYBPC1 98.08 0 No comment
    MYCN 90.97 0 No comment
    MYH10 99.14 0 No comment
    MYH3 99.61 0 No comment
    MYH6 99.58 0 No comment
    MYH8 99.84 0 No comment
    MYH9 99.50 0 No comment
    MYO1D 99.24 0 No comment
    MYO1G 98.28 0 No comment
    MYO5A 98.89 0 No comment
    MYO5B 98.83 0 No comment
    MYO7A 99.30 0 No comment
    MYT1L 99.61 0 No comment
    NAA10 97.29 0 No comment
    NAA15 96.88 0 No comment
    NACC1 99.36 0 No comment
    NADK2 90.73 0 No comment
    NAGA 99.05 0 No comment
    NAGLU 92.35 0 No comment
    NAGS 99.13 0 No comment
    NALCN 99.30 0 No comment
    NANS 99.57 0 No comment
    NBAS 99.15 0 No comment
    NBEA 98.46 0 No comment
    NBN 98.71 0 No comment
    NCAPD2 99.26 0 No comment
    NCAPG2 98.85 0 No comment
    NCAPH 96.78 0 No comment
    NCKAP1 98.92 0 No comment
    NDE1 99.73 0 No comment
    NDN 97.93 0 No comment
    NDP 98.16 0 No comment
    NDRG1 99.86 0 No comment
    NDST1 99.02 0 No comment
    NDUFA1 98.51 0 No comment
    NDUFA10 99.01 0 No comment
    NDUFA11 90.58 0 No comment
    NDUFA12 99.80 0 No comment
    NDUFA9 98.99 0 No comment
    NDUFAF1 99.39 0 No comment
    NDUFAF2 98.80 0 No comment
    NDUFAF3 99.67 0 No comment
    NDUFAF5 99.09 0 No comment
    NDUFS1 98.99 0 No comment
    NDUFS2 97.41 0 No comment
    NDUFS3 99.78 0 No comment
    NDUFS4 97.48 0 No comment
    NDUFS7 99.69 0 No comment
    NDUFS8 98.57 0 No comment
    NDUFV1 99.26 0 No comment
    NEB 99.00 0 No comment
    NECAB2 87.19 0 No comment
    NECAP1 99.07 0 No comment
    NEDD4L 98.42 0 No comment
    NEK1 98.94 0 No comment
    NEU1 99.97 0 No comment
    NF1 98.44 0 No comment
    NFASC 98.10 0 No comment
    NFIA 97.99 0 No comment
    NFIB 98.14 0 No comment
    NFIX 97.92 0 No comment
    NFU1 99.67 0 No comment
    NGF 98.59 0 No comment
    NGLY1 99.36 0 No comment
    NHEJ1 99.58 0 No comment
    NHLRC1 99.86 0 No comment
    NHP2 99.45 0 No comment
    NHS 96.49 0 No comment
    NIPA1 90.55 0 No comment
    NIPBL 98.60 0 No comment
    NKAP 96.73 0 No comment
    NKX2-1 97.75 0 No comment
    NKX2-5 99.63 0 No comment
    NKX3-2 98.37 0 No comment
    NLGN3 98.40 0 No comment
    NLGN4X 99.13 0 No comment
    NLRP3 98.99 0 No comment
    NMNAT1 97.99 0 No comment
    NODAL 99.40 0 No comment
    NOG 99.12 0 No comment
    NONO 96.77 0 No comment
    NOP56 99.35 0 No comment
    NOTCH2 99.27 0 No comment
    NOVA2 89.97 0 No comment
    NPC1 98.89 0 No comment
    NPC2 99.66 0 No comment
    NPHP1 99.51 0 No comment
    NPHP3 98.74 0 No comment
    NPHP4 99.19 0 No comment
    NPHS1 99.44 0 No comment
    NPHS2 97.80 0 No comment
    NPR2 99.34 0 No comment
    NPR3 90.56 0 No comment
    NR1I3 99.14 0 No comment
    NR2F1 90.07 0 No comment
    NR2F2 98.87 0 No comment
    NR4A2 99.44 0 No comment
    NR5A1 97.66 0 No comment
    NRAS 98.92 0 No comment
    NRK 96.60 0 No comment
    NRROS 99.89 0 No comment
    NRXN1 99.17 0 No comment
    NRXN2 95.11 0 No comment
    NRXN3 99.23 0 No comment
    NSD1 98.92 0 No comment
    NSDHL 98.64 0 No comment
    NSF 98.09 0 No comment
    NSUN2 98.86 0 No comment
    NT5C2 98.94 0 No comment
    NT5C3A 98.92 0 No comment
    NTM 98.61 0 No comment
    NTNG1 99.58 0 No comment
    NTNG2 93.49 0 No comment
    NTRK1 98.79 0 No comment
    NTRK2 99.23 0 No comment
    NUBPL 99.17 0 No comment
    NUDT2 99.10 0 No comment
    NUP107 97.33 0 No comment
    NUP188 98.99 0 No comment
    NUP62 99.65 0 No comment
    NUS1 97.85 0 No comment
    NXF5 99.08 0 No comment
    NYX 92.34 0 No comment
    OBSL1 98.23 0 No comment
    OCLN 99.53 0 No comment
    OCRL 95.55 0 No comment
    ODC1 99.36 0 No comment
    ODF2L 97.74 0 No comment
    OFD1 93.09 0 No comment
    OGT 96.02 0 No comment
    OPA3 99.11 0 No comment
    OPHN1 93.40 0 No comment
    OR5M1 99.56 0 No comment
    ORC1 98.75 0 No comment
    ORC4 98.23 0 No comment
    ORC6 98.12 0 No comment
    OSGEP 99.20 0 No comment
    OTC 94.39 0 No comment
    OTOGL 91.23 0 No comment
    OTUD6B 97.21 0 No comment
    OTUD7A 84.64 0 No comment
    OTX2 99.74 0 No comment
    OXCT1 98.14 0 No comment
    P2RY4 99.46 0 No comment
    P2RY8 99.54 0 No comment
    P4HB 99.48 0 No comment
    P4HTM 95.19 0 No comment
    PABPC5 99.77 0 No comment
    PACS1 97.81 0 No comment
    PACS2 97.16 0 No comment
    PAFAH1B1 99.12 0 No comment
    PAH 99.36 0 No comment
    PAK1 89.41 0 No comment
    PAK3 93.85 0 No comment
    PALB2 99.35 0 No comment
    PANK2 98.65 0 No comment
    PAPSS2 97.09 0 No comment
    PRKN 99.61 0 No comment
    PARK7 98.71 0 No comment
    PARN 99.92 0 No comment
    PARP1 99.23 0 No comment
    PASD1 96.99 0 No comment
    PAX2 98.63 0 No comment
    PAX3 99.47 0 No comment
    PAX6 99.12 0 No comment
    PAX7 98.68 0 No comment
    PAX8 99.37 0 No comment
    PAX9 99.60 0 No comment
    PBRM1 99.04 0 No comment
    PBX1 98.79 0 No comment
    PC 99.26 0 No comment
    PCBD1 98.19 0 No comment
    PCCA 99.09 0 No comment
    PCCB 98.35 0 No comment
    PCDH10 99.56 0 No comment
    PCDH12 99.87 0 No comment
    PCDH19 99.27 0 No comment
    PCGF2 89.24 0 No comment
    PCLO 99.20 0 No comment
    PCNT 98.96 0 No comment
    PCYT1A 99.37 0 No comment
    PCYT2 93.96 0 No comment
    PDCD10 97.57 0 No comment
    PDE10A 99.49 0 No comment
    PDE4D 97.01 0 No comment
    PDE6D 99.57 0 No comment
    PDE6G 99.28 0 No comment
    PDGFB 99.27 0 No comment
    PDGFRB 98.98 0 No comment
    PDHA1 93.13 0 No comment
    PDHX 97.66 0 No comment
    PDSS1 88.79 0 No comment
    PDSS2 98.91 0 No comment
    PDYN 97.60 0 No comment
    PECR 98.78 0 No comment
    PEPD 99.16 0 No comment
    PET100 99.52 0 No comment
    PEX1 98.65 0 No comment
    PEX10 94.24 0 No comment
    PEX11B 98.16 0 No comment
    PEX12 98.98 0 No comment
    PEX13 99.29 0 No comment
    PEX14 99.37 0 No comment
    PEX16 99.69 0 No comment
    PEX19 98.79 0 No comment
    PEX2 99.69 0 No comment
    PEX26 98.07 0 No comment
    PEX3 98.18 0 No comment
    PEX5 98.49 0 No comment
    PEX6 98.82 0 No comment
    PEX7 98.38 0 No comment
    PGAP1 97.38 0 No comment
    PGAP2 99.62 0 No comment
    PGAP3 97.87 0 No comment
    PGK1 98.42 0 No comment
    PGM1 98.11 0 No comment
    PGM3 99.56 0 No comment
    PGRMC1 98.26 0 No comment
    PHACTR1 89.43 0 No comment
    PHC1 99.13 0 No comment
    PHF10 95.41 0 No comment
    PHF21A 98.68 0 No comment
    PHF6 87.29 0 No comment
    PHF8 98.16 0 No comment
    PHGDH 99.24 0 No comment
    PHIP 98.39 0 No comment
    PHKA1 96.26 0 No comment
    PHKA2 95.35 0 No comment
    PHKG2 99.76 0 No comment
    PHOX2B 94.35 0 No comment
    PIEZO2 98.61 0 No comment
    PIGA 96.21 0 No comment
    PIGB 99.29 0 No comment
    PIGC 99.49 0 No comment
    PIGG 99.35 0 No comment
    PIGH 99.72 0 No comment
    PIGK 97.34 0 No comment
    PIGL 99.60 0 No comment
    PIGN 97.35 0 No comment
    PIGO 99.30 0 No comment
    PIGP 97.65 0 No comment
    PIGQ 99.47 0 No comment
    PIGS 99.30 0 No comment
    PIGT 99.18 0 No comment
    PIGU 96.64 0 No comment
    PIGV 99.64 0 No comment
    PIGW 99.86 0 No comment
    PIGY 98.77 0 No comment
    PIK3C2A 98.95 0 No comment
    PIK3C3 98.08 0 No comment
    PIK3CA 98.58 0 No comment
    PIK3R1 98.70 0 No comment
    PIK3R2 92.16 0 No comment
    PIN4 94.34 0 No comment
    PINK1 96.58 0 No comment
    PITRM1 99.18 0 No comment
    PITX2 98.79 0 No comment
    PITX3 99.21 0 No comment
    PJA1 99.79 0 No comment
    PKD1L1 99.32 0 No comment
    PKHD1 99.32 0 No comment
    PLA2G6 99.38 0 No comment
    PLAA 99.25 0 No comment
    PLCB1 98.83 0 No comment
    PLCE1 98.80 0 No comment
    PLCXD1 96.54 0 No comment
    PLEC 99.59 0 No comment
    PLEKHG2 99.01 0 No comment
    PLK4 98.64 0 No comment
    PLOD1 98.15 0 No comment
    PLOD2 98.29 0 No comment
    PLOD3 98.92 0 No comment
    PLP1 98.91 0 No comment
    PLXNB3 98.08 0 No comment
    PMM2 97.92 0 No comment
    PMP22 99.70 0 No comment
    PMPCA 99.22 0 No comment
    PMPCB 98.76 0 No comment
    PMS2 98.73 0 No comment
    PNKD 99.01 0 No comment
    PNKP 99.38 0 No comment
    PNP 99.48 0 No comment
    PNPLA6 99.18 0 No comment
    PNPO 98.09 0 No comment
    PNPT1 98.94 0 No comment
    POC1A 98.69 0 No comment
    POC1B 98.91 0 No comment
    POGLUT1 99.01 0 No comment
    POGZ 99.08 0 No comment
    POLA1 93.70 0 No comment
    POLD1 99.32 0 No comment
    POLG 98.98 0 No comment
    POLR1C 99.42 0 No comment
    POLR1D 94.97 0 No comment
    POLR2A 93.09 0 No comment
    POLR3A 99.17 0 No comment
    POLR3B 98.52 0 No comment
    POMGNT1 98.91 0 No comment
    POMGNT2 99.93 0 No comment
    POMT1 99.40 0 No comment
    POMT2 98.43 0 No comment
    PORCN 98.49 0 No comment
    POU1F1 99.20 0 No comment
    POU3F3 72.47 0 No comment
    PPA2 98.38 0 No comment
    PPM1D 98.90 0 No comment
    PPOX 99.10 0 No comment
    PPP1CB 99.15 0 No comment
    PPP1R15B 99.76 0 No comment
    PPP1R1B 97.58 0 No comment
    PPP1R21 97.12 0 No comment
    PPP2CA 99.22 0 No comment
    PPP2R1A 99.53 0 No comment
    PPP2R2B 99.49 0 No comment
    PPP2R5D 99.23 0 No comment
    PPP3CA 97.94 0 No comment
    PPT1 99.42 0 No comment
    PQBP1 98.03 0 No comment
    PRDM12 87.59 0 No comment
    PRDX4 76.26 0 No comment
    PREPL 99.18 0 No comment
    PRICKLE1 99.56 0 No comment
    PRICKLE2 99.38 0 No comment
    PRICKLE3 96.71 0 No comment
    PRKAR1A 99.58 0 No comment
    PRKCG 99.43 0 No comment
    PRKD1 98.77 0 No comment
    PRKRA 99.26 0 No comment
    PRMT9 98.98 0 No comment
    PRMT7 98.06 0 No comment
    PRODH 98.11 0 No comment
    PROP1 99.63 0 No comment
    PLPBP 95.56 0 No comment
    PROX2 99.44 0 No comment
    PRPS1 95.38 0 No comment
    PRR12 98.27 0 No comment
    PRRG1 94.01 0 No comment
    PRRG3 97.85 0 No comment
    PRRT2 99.50 0 No comment
    PRSS12 99.22 0 No comment
    PRSS56 98.31 0 No comment
    PRUNE1 99.16 0 No comment
    PRX 99.79 0 No comment
    PSAP 99.57 0 No comment
    PSAT1 99.42 0 No comment
    PSEN1 99.47 0 No comment
    PSMA7 92.67 0 No comment
    PSMB8 99.96 0 No comment
    PSMD10 98.66 0 No comment
    PSMD12 99.46 0 No comment
    PSPH 99.39 0 No comment
    PTCH1 98.24 0 No comment
    PTCHD1 99.55 0 No comment
    PTDSS1 99.53 0 No comment
    PTEN 97.06 0 No comment
    PTF1A 84.73 0 No comment
    PTH1R 99.36 0 No comment
    PTHLH 99.63 0 No comment
    PTPN11 98.87 0 No comment
    PTPN21 99.21 0 No comment
    PTPN23 99.40 0 No comment
    PTRH2 99.69 0 No comment
    PTRHD1 99.61 0 No comment
    PTS 97.89 0 No comment
    PUF60 99.63 0 No comment
    PUM1 98.63 0 No comment
    PURA 95.31 0 No comment
    PUS1 93.61 0 No comment
    PUS3 99.35 0 No comment
    PUS7 99.26 0 No comment
    NECTIN1 99.41 0 No comment
    PYCR1 99.44 0 No comment
    PYCR2 98.91 0 No comment
    PYGL 99.15 0 No comment
    QARS1 99.24 0 No comment
    QDPR 99.29 0 No comment
    QKI 99.00 0 No comment
    QRICH1 99.47 0 No comment
    RAB11A 99.26 0 No comment
    RAB11B 99.79 0 No comment
    RAB18 98.52 0 No comment
    RAB23 98.94 0 No comment
    RAB27A 96.61 0 No comment
    RAB39B 99.40 0 No comment
    RAB3GAP1 98.90 0 No comment
    RAB3GAP2 99.12 0 No comment
    RAB40AL 99.76 0 No comment
    RABL6 99.51 0 No comment
    RAC1 98.23 0 No comment
    NCOA3 95.06 0 No comment
    RAD21 98.41 0 No comment
    RAD50 97.32 0 No comment
    RAD51 86.56 0 No comment
    RAD51C 98.85 0 No comment
    RAF1 99.16 0 No comment
    RAI1 99.61 0 No comment
    RALA 96.03 0 No comment
    RALGAPA1 98.41 0 No comment
    RALGDS 95.93 0 No comment
    RANBP17 98.36 0 No comment
    RANBP2 99.68 0 No comment
    RAPGEF1 99.41 0 No comment
    RAPSN 99.04 0 No comment
    RARB 99.38 0 No comment
    RARS1 97.45 0 No comment
    RARS2 99.01 0 No comment
    RASA1 97.27 0 No comment
    RAX 93.04 0 No comment
    RBBP8 97.45 0 No comment
    RBFOX1 97.68 0 No comment
    RBL2 98.08 0 No comment
    RBM10 97.07 0 No comment
    RBM28 99.52 0 No comment
    RBM8A 99.76 0 No comment
    RBPJ 99.63 0 No comment
    RECQL4 98.44 0 No comment
    REEP1 98.11 0 No comment
    REEP2 98.01 0 No comment
    RELN 99.14 0 No comment
    RENBP 93.79 0 No comment
    RERE 97.47 0 No comment
    RET 98.30 0 No comment
    RFT1 97.40 0 No comment
    RFX6 98.63 0 No comment
    RTL9 99.02 0 No comment
    RGN 96.72 0 No comment
    RGS7 99.42 0 No comment
    RHEB 99.03 0 No comment
    RHOBTB2 98.98 0 No comment
    RIMS1 98.15 0 No comment
    RIPK4 99.54 0 No comment
    RIT1 99.28 0 No comment
    RLIM 99.09 0 No comment
    RMND1 99.20 0 No comment
    RNASEH2A 99.80 0 No comment
    RNASEH2B 94.50 0 No comment
    RNASEH2C 99.62 0 No comment
    RNASET2 99.20 0 No comment
    RNF113A 99.44 0 No comment
    RNF125 98.59 0 No comment
    RNF13 97.23 0 No comment
    RNF135 98.54 0 No comment
    RNF168 99.46 0 No comment
    RNF216 99.40 0 No comment
    ROBO3 98.40 0 No comment
    ROGDI 96.44 0 No comment
    ROR2 97.79 0 No comment
    RORA 99.37 0 No comment
    RORB 99.16 0 No comment
    RPE65 99.50 0 No comment
    RPGR 91.56 0 No comment
    RPGRIP1 98.66 0 No comment
    RPGRIP1L 95.87 0 No comment
    RPIA 97.45 0 No comment
    RPL10 97.70 0 No comment
    RPS19 98.91 0 No comment
    RPS23 99.81 0 No comment
    RPS6KA3 91.96 0 No comment
    RRAS 94.70 0 No comment
    RRM2B 98.76 0 No comment
    RSPH1 99.58 0 No comment
    RSPH3 99.23 0 No comment
    RSPO4 99.59 0 No comment
    RSPRY1 98.70 0 No comment
    RSRC1 94.18 0 No comment
    RTEL1 99.53 0 No comment
    RTN2 99.37 0 No comment
    RTN4IP1 98.71 0 No comment
    RTTN 98.24 0 No comment
    RUNX2 99.01 0 No comment
    RUSC2 99.39 0 No comment
    RYR1 97.61 0 No comment
    RYR3 99.20 0 No comment
    SACS 99.78 0 No comment
    SALL1 99.82 0 No comment
    SALL4 99.82 0 No comment
    SAMD9 99.90 0 No comment
    SAMHD1 99.51 0 No comment
    SARS2 99.19 0 No comment
    SATB1 99.00 0 No comment
    SATB2 99.38 0 No comment
    SBDS 99.45 0 No comment
    SBF1 99.15 0 No comment
    SBF2 98.85 0 No comment
    SC5D 98.71 0 No comment
    SCAF4 98.85 0 No comment
    SCAMP5 99.20 0 No comment
    SCAPER 98.60 0 No comment
    SCARB2 99.18 0 No comment
    SCARF2 93.83 0 No comment
    SCN11A 98.88 0 No comment
    SCN1A 98.90 0 No comment
    SCN1B 95.08 0 No comment
    SCN2A 99.00 0 No comment
    SCN3A 99.17 0 No comment
    SCN4A 98.53 0 No comment
    SCN8A 96.15 0 No comment
    SCN9A 98.95 0 No comment
    SCO1 99.42 0 No comment
    SCO2 95.41 0 No comment
    SCRIB 99.36 0 No comment
    SCYL1 98.07 0 No comment
    SDCCAG8 99.21 0 No comment
    SDHA 98.78 0 No comment
    SDHAF1 95.67 0 No comment
    SEC23B 98.95 0 No comment
    SEC31A 98.89 0 No comment
    SEPSECS 98.34 0 No comment
    SERAC1 98.92 0 No comment
    SET 99.64 0 No comment
    SETBP1 96.95 0 No comment
    SETD1A 98.37 0 No comment
    SETD1B 95.43 0 No comment
    SETD2 99.04 0 No comment
    SETD5 99.01 0 No comment
    SETDB2 98.15 0 No comment
    SETX 99.48 0 No comment
    SF3B4 98.95 0 No comment
    SGCA 99.28 0 No comment
    SGCE 93.44 0 No comment
    SGPL1 98.02 0 No comment
    SGSH 99.56 0 No comment
    SH3PXD2B 98.34 0 No comment
    SH3TC2 99.47 0 No comment
    SHANK1 95.42 0 No comment
    SHANK2 95.90 0 No comment
    SHANK3 84.05 0 No comment
    SHH 97.41 0 No comment
    SHOC2 98.50 0 No comment
    SHOX 99.66 0 No comment
    SHROOM2 96.54 0 No comment
    SHROOM4 98.99 0 No comment
    SIGMAR1 99.83 0 No comment
    SIK1 99.55 0 No comment
    SIL1 99.44 0 No comment
    SIN3A 99.40 0 No comment
    SIX1 99.50 0 No comment
    SIX3 98.04 0 No comment
    SIX5 96.91 0 No comment
    SKI 94.70 0 No comment
    SKIV2L 99.87 0 No comment
    SLC12A5 98.41 0 No comment
    SLC12A6 98.39 0 No comment
    SLC13A5 98.63 0 No comment
    SLC16A2 99.13 0 No comment
    SLC17A5 98.11 0 No comment
    SLC19A3 98.65 0 No comment
    SLC1A1 99.06 0 No comment
    SLC1A2 98.81 0 No comment
    SLC1A4 99.04 0 No comment
    SLC20A2 98.04 0 No comment
    SLC22A5 99.51 0 No comment
    SLC25A1 93.07 0 No comment
    SLC25A12 98.89 0 No comment
    SLC25A13 99.00 0 No comment
    SLC25A15 99.02 0 No comment
    SLC25A19 98.60 0 No comment
    SLC25A20 96.95 0 No comment
    SLC25A22 98.89 0 No comment
    SLC25A24 99.54 0 No comment
    SLC25A26 99.04 0 No comment
    SLC25A38 99.44 0 No comment
    SLC25A53 99.18 0 No comment
    SLC25A6 93.97 0 No comment
    SLC26A2 99.60 0 No comment
    SLC26A9 98.51 0 No comment
    SLC27A4 99.39 0 No comment
    SLC2A1 99.21 0 No comment
    SLC2A10 99.62 0 No comment
    SLC2A2 98.55 0 No comment
    SLC30A9 98.53 0 No comment
    SLC31A1 98.80 0 No comment
    SLC33A1 98.15 0 No comment
    SLC35A1 98.63 0 No comment
    SLC35A2 98.33 0 No comment
    SLC35A3 98.16 0 No comment
    SLC35C1 99.23 0 No comment
    SLC35D1 97.31 0 No comment
    SLC39A13 99.08 0 No comment
    SLC39A14 99.48 0 No comment
    SLC39A8 99.08 0 No comment
    SLC45A1 99.36 0 No comment
    SLC46A1 99.30 0 No comment
    SLC4A1 95.32 0 No comment
    SLC4A11 99.30 0 No comment
    SLC4A4 98.81 0 No comment
    SLC52A3 99.86 0 No comment
    SLC5A2 99.60 0 No comment
    SLC5A5 98.75 0 No comment
    SLC5A6 99.13 0 No comment
    SLC5A7 99.53 0 No comment
    SLC6A1 98.74 0 No comment
    SLC6A17 98.68 0 No comment
    SLC6A19 99.55 0 No comment
    SLC6A3 99.88 0 No comment
    SLC6A4 99.05 0 No comment
    SLC6A5 99.35 0 No comment
    SLC6A8 91.92 0 No comment
    SLC6A9 99.08 0 No comment
    SLC7A7 99.58 0 No comment
    SLC9A6 89.27 0 No comment
    SLC9A9 98.10 0 No comment
    SLX4 99.16 0 No comment
    SMAD3 98.93 0 No comment
    SMAD4 99.09 0 No comment
    SMARCA1 93.45 0 No comment
    SMARCA2 96.71 0 No comment
    SMARCA4 98.96 0 No comment
    SMARCAL1 99.40 0 No comment
    SMARCB1 99.67 0 No comment
    SMARCC1 98.91 0 No comment
    SMARCC2 98.49 0 No comment
    SMARCD1 98.02 0 No comment
    SMARCD2 89.27 0 No comment
    SMARCD3 95.19 0 No comment
    SMARCE1 99.13 0 No comment
    SMC1A 97.63 0 No comment
    SMC3 98.43 0 No comment
    SMCHD1 96.94 0 No comment
    SMG9 99.03 0 No comment
    SMO 97.34 0 No comment
    SMOC1 99.47 0 No comment
    SMPD1 99.59 0 No comment
    SMPD4 99.16 0 No comment
    SMS 93.00 0 No comment
    SNAP25 99.07 0 No comment
    SNAP29 97.81 0 No comment
    SNCA 99.88 0 No comment
    SNIP1 99.49 0 No comment
    SNRPB 99.04 0 No comment
    SNTG1 99.41 0 No comment
    SNX14 98.24 0 No comment
    SNX27 97.42 0 No comment
    SNX3 97.57 0 No comment
    SOBP 91.72 0 No comment
    SON 99.58 0 No comment
    SOS1 98.49 0 No comment
    SOS2 98.44 0 No comment
    SOX10 99.18 0 No comment
    SOX11 98.67 0 No comment
    SOX17 99.36 0 No comment
    SOX2 99.09 0 No comment
    SOX3 92.70 0 No comment
    SOX4 92.73 0 No comment
    SOX5 99.41 0 No comment
    SOX6 98.79 0 No comment
    SOX9 98.76 0 No comment
    SPAG1 92.96 0 No comment
    SPAST 98.37 0 No comment
    SPATA5 98.79 0 No comment
    SPECC1L 99.39 0 No comment
    SPEG 98.56 0 No comment
    SPG11 98.94 0 No comment
    SPART 99.65 0 No comment
    SPG21 99.56 0 No comment
    SPG7 97.12 0 No comment
    SPR 96.31 0 No comment
    SPRED1 99.02 0 No comment
    SPRTN 98.90 0 No comment
    SPRY3 99.98 0 No comment
    SPTAN1 98.92 0 No comment
    SPTBN2 99.21 0 No comment
    SPTLC1 99.27 0 No comment
    SPTLC2 97.79 0 No comment
    SRCAP 99.48 0 No comment
    SRD5A3 99.57 0 No comment
    SREBF2 98.39 0 No comment
    SRGAP3 99.31 0 No comment
    SRP54 98.17 0 No comment
    SRPX2 97.52 0 No comment
    SRY 49.45 0 No comment
    SSR4 96.62 0 No comment
    ST3GAL3 99.33 0 No comment
    ST3GAL5 95.14 0 No comment
    STAB2 99.01 0 No comment
    STAG1 98.53 0 No comment
    STAG2 88.40 0 No comment
    STAMBP 99.15 0 No comment
    STAR 98.82 0 No comment
    STARD8 98.62 0 No comment
    STAT1 99.43 0 No comment
    STAT5B 99.51 0 No comment
    STIL 99.10 0 No comment
    STRA6 98.39 0 No comment
    STRADA 98.02 0 No comment
    STS 94.96 0 No comment
    STT3A 99.15 0 No comment
    STT3B 97.48 0 No comment
    STUB1 98.49 0 No comment
    STX11 99.96 0 No comment
    STX1B 99.29 0 No comment
    STX3 99.34 0 No comment
    STXBP1 99.41 0 No comment
    SUCLG1 97.18 0 No comment
    SUFU 97.89 0 No comment
    SUMF1 99.40 0 No comment
    SUOX 99.68 0 No comment
    SURF1 97.97 0 No comment
    KMT5B 99.52 0 No comment
    SYN1 90.54 0 No comment
    SYNCRIP 99.53 0 No comment
    SYNE1 99.37 0 No comment
    SYNGAP1 97.57 0 No comment
    SYNJ1 98.62 0 No comment
    SYP 98.38 0 No comment
    SYT1 98.69 0 No comment
    SYT14 92.68 0 No comment
    SYTL4 95.73 0 No comment
    SYTL5 95.65 0 No comment
    SZT2 99.40 0 No comment
    TAB2 99.63 0 No comment
    TACO1 99.03 0 No comment
    TAF1 96.88 0 No comment
    TAF13 99.08 0 No comment
    TAF2 98.77 0 No comment
    TAF6 98.77 0 No comment
    TAF7L 96.34 0 No comment
    TANC2 99.08 0 No comment
    TANGO2 99.49 0 No comment
    TAOK1 98.85 0 No comment
    TARDBP 98.93 0 No comment
    TAT 99.63 0 No comment
    TAFAZZIN 98.45 0 No comment
    TBC1D20 96.79 0 No comment
    TBC1D23 96.93 0 No comment
    TBC1D24 99.04 0 No comment
    TBC1D7 99.38 0 No comment
    TBC1D8B 94.09 0 No comment
    TBCD 99.00 0 No comment
    TBCE 97.65 0 No comment
    TBCK 98.11 0 No comment
    TBL1XR1 99.36 0 No comment
    TBP 94.39 0 No comment
    TBR1 97.83 0 No comment
    TBX1 80.23 0 No comment
    TBX15 99.32 0 No comment
    TBX20 98.62 0 No comment
    TBX22 98.45 0 No comment
    TBX3 99.44 0 No comment
    TBX4 96.92 0 No comment
    TBX5 99.04 0 No comment
    TBXAS1 99.15 0 No comment
    TCEAL3 98.98 0 No comment
    TCF12 99.27 0 No comment
    TCF20 99.92 0 No comment
    TCF4 98.18 0 No comment
    TCN2 99.16 0 No comment
    TCOF1 98.98 0 No comment
    TCP10L2 96.65 0 No comment
    TCTN1 99.23 0 No comment
    TCTN2 98.51 0 No comment
    TCTN3 99.33 0 No comment
    TDP2 98.45 0 No comment
    TECPR2 97.98 0 No comment
    TECR 99.15 0 No comment
    TEK 98.69 0 No comment
    TELO2 98.42 0 No comment
    TENM1 97.40 0 No comment
    TERT 97.99 0 No comment
    TFAP2A 99.10 0 No comment
    TFAP2B 99.67 0 No comment
    TFB2M 97.77 0 No comment
    TFE3 97.18 0 No comment
    TFG 97.71 0 No comment
    TGDS 98.69 0 No comment
    TGFB1 98.69 0 No comment
    TGFB2 99.24 0 No comment
    TGFB3 98.80 0 No comment
    TGFBR1 94.44 0 No comment
    TGFBR2 99.42 0 No comment
    TGIF1 99.54 0 No comment
    TGM6 99.52 0 No comment
    TH 98.92 0 No comment
    THAP1 99.83 0 No comment
    THOC2 95.28 0 No comment
    THOC6 99.31 0 No comment
    THRA 98.88 0 No comment
    THRB 99.50 0 No comment
    THUMPD1 97.86 0 No comment
    TIMM50 99.61 0 No comment
    TIMM8A 98.50 0 No comment
    TINF2 99.50 0 No comment
    TK2 96.78 0 No comment
    TKT 97.27 0 No comment
    TKTL1 96.74 0 No comment
    TLK2 98.47 0 No comment
    TLR8 97.46 0 No comment
    TM4SF20 99.00 0 No comment
    TMCO1 94.77 0 No comment
    TMEM126B 97.26 0 No comment
    TMEM132E 98.50 0 No comment
    TMEM135 98.43 0 No comment
    TMEM165 94.88 0 No comment
    TMEM216 99.71 0 No comment
    TMEM231 99.23 0 No comment
    TMEM237 97.63 0 No comment
    TMEM240 99.05 0 No comment
    TMEM260 98.99 0 No comment
    RXYLT1 98.12 0 No comment
    TMEM67 96.82 0 No comment
    TMEM70 99.03 0 No comment
    TMLHE 95.63 0 No comment
    TMPRSS6 99.18 0 No comment
    TMTC3 98.30 0 No comment
    TMX2 99.71 0 No comment
    TNIK 98.61 0 No comment
    TNKS2 98.85 0 No comment
    TNPO2 99.19 0 No comment
    TNRC6B 99.23 0 No comment
    TOE1 99.29 0 No comment
    TOMM70 98.81 0 No comment
    TOR1A 99.40 0 No comment
    TP63 99.19 0 No comment
    TPH2 99.50 0 No comment
    TPK1 98.78 0 No comment
    TPP1 99.55 0 No comment
    TRAF7 99.15 0 No comment
    TRAIP 99.21 0 No comment
    TRAK1 99.03 0 No comment
    TRAPPC11 99.04 0 No comment
    TRAPPC12 99.42 0 No comment
    TRAPPC2 95.98 0 No comment
    TRAPPC4 99.44 0 No comment
    TRAPPC6A 98.87 0 No comment
    TRAPPC6B 98.72 0 No comment
    TRAPPC9 99.07 0 No comment
    TREX1 99.86 0 No comment
    TREX2 96.69 0 No comment
    TRHR 99.49 0 No comment
    TRIM32 99.91 0 No comment
    TRIM37 99.00 0 No comment
    TRIM8 98.75 0 No comment
    TRIO 96.38 0 No comment
    TRIP11 99.09 0 No comment
    TRIP12 98.93 0 No comment
    TRIP13 96.31 0 No comment
    TRIT1 99.11 0 No comment
    TRMT1 98.51 0 No comment
    TRMT10A 99.25 0 No comment
    TRPM1 99.80 0 No comment
    TRPM3 99.30 0 No comment
    TRPS1 99.67 0 No comment
    TRPV4 98.68 0 No comment
    TRRAP 98.54 0 No comment
    TSC1 99.22 0 No comment
    TSC2 98.76 0 No comment
    TSC22D3 98.85 0 No comment
    TSEN15 99.17 0 No comment
    TSEN2 99.38 0 No comment
    TSEN34 99.39 0 No comment
    TSEN54 96.81 0 No comment
    TSFM 91.27 0 No comment
    TSHB 99.78 0 No comment
    TSHR 99.48 0 No comment
    TSPAN7 97.97 0 No comment
    TSPAN8 98.82 0 No comment
    TTBK2 98.86 0 No comment
    TTC19 96.22 0 No comment
    TTC37 99.15 0 No comment
    TTC5 99.03 0 No comment
    TTC7A 98.98 0 No comment
    TTC8 98.53 0 No comment
    TTI2 99.31 0 No comment
    TTN 99.43 0 No comment
    TTPA 96.73 0 No comment
    TTR 98.18 0 No comment
    TUBA1A 99.98 0 No comment
    TUBA8 99.57 0 No comment
    TUBAL3 99.75 0 No comment
    TUBB 99.92 0 No comment
    TUBB2A 99.92 0 No comment
    TUBB2B 99.64 0 No comment
    TUBB3 99.69 0 No comment
    TUBB4A 99.78 0 No comment
    TUBG1 99.68 0 No comment
    TUBGCP4 98.92 0 No comment
    TUBGCP6 99.55 0 No comment
    TUFM 99.36 0 No comment
    TUSC3 99.50 0 No comment
    TWIST1 87.92 0 No comment
    TWIST2 99.24 0 No comment
    TXNL4A 99.72 0 No comment
    TYR 99.29 0 No comment
    TYRP1 99.39 0 No comment
    UBA5 98.17 0 No comment
    UBE2A 88.22 0 No comment
    UBE3A 99.06 0 No comment
    UBE3B 98.65 0 No comment
    UBR1 99.11 0 No comment
    UBR4 98.90 0 No comment
    UBR7 97.01 0 No comment
    UBTF 99.61 0 No comment
    UFC1 99.37 0 No comment
    UFM1 99.16 0 No comment
    UGP2 98.46 0 No comment
    UGT1A1 99.45 0 No comment
    UMPS 98.48 0 No comment
    UNC13A 99.25 0 No comment
    UNC80 98.86 0 No comment
    UPB1 99.39 0 No comment
    UPF3B 94.60 0 No comment
    UQCRB 99.87 0 No comment
    UQCRQ 99.36 0 No comment
    UROC1 99.06 0 No comment
    UROS 99.56 0 No comment
    USB1 99.41 0 No comment
    USP18 99.79 0 No comment
    USP27X 99.46 0 No comment
    USP7 99.02 0 No comment
    USP9X 95.44 0 No comment
    UTP14A 97.77 0 No comment
    UVSSA 99.24 0 No comment
    VAMP1 96.99 0 No comment
    VAMP2 99.53 0 No comment
    VAMP7 96.50 0 No comment
    VARS1 99.74 0 No comment
    VDR 97.94 0 No comment
    CPAMD8 98.98 0 No comment
    VIPAS39 98.17 0 No comment
    VLDLR 99.08 0 No comment
    VPS11 99.39 0 No comment
    VPS13B 98.28 0 No comment
    VPS33B 99.23 0 No comment
    VPS35 99.22 0 No comment
    VPS51 99.19 0 No comment
    VPS53 97.29 0 No comment
    VRK1 98.70 0 No comment
    VSX2 98.36 0 No comment
    WAC 98.16 0 No comment
    WARS2 99.20 0 No comment
    WASF1 98.47 0 No comment
    WDFY3 99.10 0 No comment
    WDPCP 98.96 0 No comment
    WDR11 99.19 0 No comment
    WDR13 96.77 0 No comment
    WDR19 98.40 0 No comment
    WDR26 98.93 0 No comment
    DYNC2I2 98.79 0 No comment
    WDR35 99.09 0 No comment
    WDR37 99.18 0 No comment
    WDR4 98.27 0 No comment
    WDR45 97.90 0 No comment
    WDR45B 99.15 0 No comment
    DYNC2I1 98.85 0 No comment
    WDR62 99.01 0 No comment
    WDR73 99.05 0 No comment
    WDR81 99.65 0 No comment
    WFS1 99.63 0 No comment
    NSD2 99.05 0 No comment
    WIPI2 98.93 0 No comment
    WNK3 97.70 0 No comment
    WNT1 98.69 0 No comment
    WNT10B 98.91 0 No comment
    WNT3 99.00 0 No comment
    WNT4 93.68 0 No comment
    WNT5A 98.73 0 No comment
    WNT7A 99.49 0 No comment
    WRAP53 98.86 0 No comment
    WRN 98.36 0 No comment
    WT1 98.77 0 No comment
    WWC3 96.63 0 No comment
    WWOX 99.58 0 No comment
    XIAP 97.48 0 No comment
    XK 96.00 0 No comment
    XKRX 98.90 0 No comment
    XPA 99.29 0 No comment
    XPC 98.92 0 No comment
    XPNPEP3 99.18 0 No comment
    XRCC4 98.59 0 No comment
    XYLT1 90.22 0 No comment
    YAP1 98.22 0 No comment
    YARS1 99.78 0 No comment
    YWHAG 99.64 0 No comment
    YY1 98.44 0 No comment
    ZBTB11 99.16 0 No comment
    ZBTB16 99.58 0 No comment
    ZBTB18 98.72 0 No comment
    ZBTB20 99.54 0 No comment
    ZBTB24 99.82 0 No comment
    ZBTB40 99.17 0 No comment
    ZC3H14 98.92 0 No comment
    ZC4H2 96.37 0 No comment
    ZCCHC12 98.81 0 No comment
    ZCCHC8 92.04 0 No comment
    ZDHHC15 90.89 0 No comment
    ZDHHC9 97.43 0 No comment
    ZEB2 98.91 0 No comment
    ZFHX4 99.34 0 No comment
    ZFP57 99.93 0 No comment
    ZFX 98.98 0 No comment
    ZFYVE26 99.08 0 No comment
    ZIC1 99.80 0 No comment
    ZIC2 89.81 0 No comment
    ZIC3 99.00 0 No comment
    ZMIZ1 99.16 0 No comment
    ZMPSTE24 98.12 0 No comment
    ZMYM3 97.06 0 No comment
    ZMYM6 98.59 0 No comment
    ZMYND11 99.29 0 No comment
    ZMYND12 98.18 0 No comment
    ZNF142 99.52 0 No comment
    ZNF148 99.29 0 No comment
    ZNF292 99.59 0 No comment
    ZNF335 98.86 0 No comment
    ZNF41 99.12 0 No comment
    ZNF425 99.39 0 No comment
    ZNF462 99.73 0 No comment
    ZNF526 99.70 0 No comment
    ZNF592 99.65 0 No comment
    ZNF599 99.82 0 No comment
    ZNF674 98.90 0 No comment
    ZNF711 97.16 0 No comment
    ZNF713 99.38 0 No comment
    ZNF81 99.07 0 No comment
    ZSWIM6 88.76 0 No comment
  • Intellectual disability/Epilepsy (1091 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome
    ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia
    ABCD1 99.49 0 Adrenoleukodystrophy
    ABHD5 98.48 0 Chanarin-Dorfman syndrome
    ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency
    ACO2 99.66 0 Infantile cerebellar-retinal degeneration
    ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency
    ACSL4 91.09 0 Mental retardation, X-linked 63
    ACTB 99.34 0 Baraitser-Winter syndrome 1
    ACTG1 99.69 0 Baraitser-Winter syndrome 2
    ACY1 99.67 0 Aminoacylase 1 deficiency
    ADAR 99.45 0 Aicardi-Goutieres syndrome 6
    ADAT3 81.40 0 Mental retardation, autosomal recessive 36
    ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal
    ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency
    ADNP 99.55 0 Helsmoortel-van der Aa syndrome
    ADSL 99.58 0 Adenylosuccinase deficiency
    AFF2 90.80 0 Mental retardation, X-linked, FRAXE type
    AGA 99.60 0 Aspartylglucosaminuria
    AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1
    AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
    AHDC1 99.68 0 Xia-Gibbs syndrome
    AHI1 99.05 0 Joubert syndrome 3
    AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3
    AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
    ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA
    ALDH3A2 99.31 0 Sjogren-Larsson syndrome
    ALDH4A1 96.44 0 Hyperprolinemia, type II
    ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency
    ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent
    ALG1 99.43 0 Congenital disorder of glycosylation, type Ik
    ALG11 99.57 0 Congenital disorder of glycosylation, type Ip
    ALG12 99.69 0 Congenital disorder of glycosylation, type Ig
    ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36
    ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates
    ALG3 99.59 0 Congenital disorder of glycosylation, type Id
    ALG6 98.36 0 Congenital disorder of glycosylation, type Ic
    ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome
    ALMS1 98.27 0 Alstrom syndrome
    ALX1 99.52 0 Frontonasal dysplasia 3
    ALX4 99.07 0 Frontonasal dysplasia 2
    AMER1 99.96 0 Osteopathia striata with cranial sclerosis
    AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9
    AMT 99.69 0 Glycine encephalopathy
    ANK3 99.47 0 Mental retardation, autosomal recessive, 37
    ANKH 99.64 0 Craniometaphyseal dysplasia
    ANKRD11 99.68 0 KBG syndrome
    AP1S1 99.50 0 MEDNIK syndrome
    AP1S2 88.78 0 Mental retardation, X-linked syndromic 5
    AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive
    AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive
    AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive
    APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
    ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly
    ARG1 99.53 0 Argininemia
    ARHGAP31 99.60 0 Adams-Oliver syndrome 1
    ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations
    ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8
    ARID1A 97.02 0 Coffin-Siris syndrome 2
    ARID1B 97.57 0 Coffin-Siris syndrome 1
    ARID2 99.33 0 Coffis-Siris syndrome 6
    ARL13B 98.36 0 Joubert syndrome 8
    ARL6 99.09 0 Bardet-Biedl syndrome 3
    ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive
    ARX 65.25 0 Mental retardation, X-linked 29 and others
    ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome
    ASNS 99.42 0 Asparagine synthetase deficiency
    ASPA 99.17 0 Canavan disease
    ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive
    ASXL1 95.03 0 Bohring-Opitz syndrome
    ASXL3 98.20 0 Bainbridge-Ropers syndrome
    ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency
    ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA
    ATP7A 94.32 0 Menkes disease
    ATR 99.17 0 Seckel syndrome 1
    ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome
    ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked
    AUH 96.75 0 3-methylglutaconic aciduria, type I
    AUTS2 97.55 0 Mental retardation, autosomal dominant 26
    B3GLCT 92.21 0 Peters-plus syndrome
    B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId
    B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies
    BBIP1 99.64 0 Bardet-Biedl syndrome 18
    BBS1 99.66 0 Bardet-Biedl syndrome 1
    BBS10 99.57 0 Bardet-Biedl syndrome 10
    BBS12 99.52 0 Bardet-Biedl syndrome 12
    BBS2 99.32 0 Bardet-Biedl syndrome 2
    BBS4 99.49 0 Bardet-Biedl syndrome 4
    BBS5 98.49 0 Bardet-Biedl syndrome 5
    BBS7 99.00 0 Bardet-Biedl syndrome 7
    BBS9 98.68 0 Bardet-Biedl syndrome 9
    BCKDHB 98.82 0 Maple syrup urine disease, type Ib
    BCL11A 99.16 0 Dias-Logan syndrome
    BCOR 96.85 0 Microphthalmia, syndromic 2
    BCS1L 99.69 0 Leigh syndrome
    BLM 99.07 0 Bloom syndrome
    BRAF 94.78 0 Noonan syndrome 7
    BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis
    BRWD3 93.74 0 Mental retardation, X-linked 93
    BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy
    BTD 99.68 0 Biotinidase deficiency
    BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1
    C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie.
    C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4
    C2CD3 99.44 0 Orofaciodigital syndrome XIV
    CPLANE1 98.89 0 Joubert syndrome 17
    CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
    CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42
    CACNA1C 99.65 0 Timothy syndrome
    CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities
    CAMK2A 99.67 0 Mental retardation, autosomal dominant 53
    CAMK2B 96.34 0 Mental retardation, autosomal dominant 54
    CANT1 99.60 0 Desbuquois dysplasia 1
    CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
    CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4
    CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
    CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types
    CC2D1A 99.64 0 Mental retardation, autosomal recessive 3
    CC2D2A 99.11 0 Joubert syndrome 9
    CCDC22 99.91 0 Ritscher-Schinzel syndrome 2
    CCDC39 98.07 0 Ciliary dyskinesia, primary, 14
    CCDC78 99.69 0 Myopathy, centronuclear, 4
    CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive
    CD96 99.13 0 C syndrome
    CDC45 99.57 0 Meier-Gorlin syndrome 7
    CDC6 99.32 0 Meier-Gorlin syndrome 5
    CDH15 96.19 0 Mental retardation, autosomal dominant 3
    CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
    CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive
    CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2
    CDON 98.90 0 Holoprosencephaly 11
    CDT1 89.72 0 Meier-Gorlin syndrome 4
    CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive
    CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive
    CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive
    CEP290 97.64 0 Joubert syndrome 5
    CEP41 99.07 0 Joubert syndrome 15
    CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2
    CEP63 99.06 0 Seckel syndrome 6
    CHAMP1 99.63 0 Mental retardation, autosomal dominant 40
    CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic
    CHD2 99.18 0 Epileptic encephalopathy, childhood-onset
    CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome
    CHD7 99.53 0 CHARGE syndrome
    CHD8 99.58 0 Autism, susceptibility to, 18
    CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type
    CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8
    CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1
    CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel
    CISD2 98.61 0 Wolfram syndrome 2
    CLCN4 99.27 0 Mental retardation, X-linked 49/15
    CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3
    CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5
    CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6
    CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8
    CLP1 99.68 0 Pontocerebellar hypoplasia, type 10
    CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
    CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID
    CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1
    COASY 99.68 0 Neurodegeneration with brain iron accumulation 6
    COG1 98.34 0 Congenital disorder of glycosylation, type IIg
    COG5 99.11 0 Congenital disorder of glycosylation, type IIi
    COG6 98.39 0 Congenital disorder of glycosylation, type IIl
    COG7 99.66 0 Congenital disorder of glycosylation, type IIe
    COG8 97.38 0 Congenital disorder of glycosylation, type IIh
    COL4A1 97.86 0 Porencephaly 1
    COL4A2 99.62 0 Porencephaly 2
    CERT1 99.15 0 Mental retardation, autosomal dominant 34
    COLEC10 99.16 0 Mental retardation, autosomal dominant 34
    COLEC11 99.67 0 3MC syndrome 2
    COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1
    COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7
    COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6
    COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8
    COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4
    COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5
    COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency
    CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly
    CRBN 98.86 0 Mental retardation, autosomal recessive 2
    CREBBP 99.62 0 Rubinstein-Taybi syndrome 1
    CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome
    CSPP1 98.95 0 Joubert syndrome 21
    CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts
    CTCF 99.65 0 Mental retardation, autosomal dominant 21
    CTNNB1 99.65 0 Mental retardation, autosomal dominant 19
    CTSA 99.59 0 Galactosialidosis
    CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10
    CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type)
    CYB5R3 88.44 0 Methemoglobinemia, type I
    CYP27A1 97.94 0 Cerebrotendinous xanthomatosis
    D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria
    DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
    DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    DCAF17 93.81 0 Woodhouse-Sakati syndrome
    DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum
    DCPS 99.69 0 Al-Raqad syndrome
    DCX 96.94 0 Lissencephaly, X-linked
    DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype
    DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive
    DDX11 99.66 0 Warsaw breakage syndrome
    DDX3X 96.52 0 Mental retardation, X-linked 102
    DEAF1 92.63 0 Mental retardation, autosomal dominant 24
    DHCR24 99.34 0 Desmosterolosis
    DHCR7 99.68 0 Smith-Lemli-Opitz syndrome
    DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency
    DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
    DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome
    DKC1 91.60 0 Dyskeratosis congenita, X-linked
    DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency
    DLG3 98.91 0 Mental retardation, X-linked 90
    DLL4 99.61 0 Adams-Oliver syndrome 6
    DNAJC19 97.60 0 3-methylglutaconic aciduria, type V
    DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31
    DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome
    DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1
    DOCK6 97.92 0 Adams-Oliver syndrome 2
    DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive
    DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij
    DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair
    DPM1 99.27 0 Congenital disorder of glycosylation, type Ie
    DPP6 99.57 0 Mental retardation, autosomal dominant 33
    DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme
    DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13
    DYRK1A 99.53 0 Mental retardation, autosomal dominant 7
    EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12
    EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome
    EBP 99.89 0 MEND syndrome
    ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
    EDC3 99.68 0 Mental retardation, autosomal recessive 50
    EEF1A2 88.74 0 Mental retardation, autosomal dominant 38
    EFNB1 99.39 0 Craniofrontonasal dysplasia
    EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type
    EHMT1 95.40 0 Kleefstra syndrome
    EIF2AK3 94.12 0 Wolcott-Rallison syndrome
    EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type
    ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation
    ELP2 98.99 0 Mental retardation, autosomal recessive 58
    EML1 96.28 0 Band heterotopia
    EMX2 99.48 0 Schizencephaly
    ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive
    EOGT 99.33 0 Adams-Oliver syndrome 4
    EP300 99.56 0 Rubinstein-Taybi syndrome 2
    EPB41L1 99.69 0 Mental retardation, autosomal dominant 11
    EPG5 99.47 0 Vici syndrome
    ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2
    ERCC3 99.68 0 Xeroderma pigmentosum, group B
    ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome
    ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome
    ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1
    ERCC8 99.27 0 Cockayne syndrome, type A
    ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive
    ESCO2 98.50 0 Roberts syndrome
    ETHE1 99.60 0 Ethylmalonic encephalopathy
    EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B
    EZH2 99.41 0 Weaver syndrome
    EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID
    FAM126A 98.81 0 Leukodystrophy, hypomyelinating, 5
    FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14
    FAT4 99.39 0 Van Maldergem syndrome 2
    FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
    FBXO31 93.34 0 Mental retardation, autosomal recessive 45
    FGD1 98.23 0 Mental retardation, X-linked syndromic 16
    FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia
    FGFR2 99.67 0 Saethre-Chotzen syndrome
    FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans
    FH 99.29 0 Fumarase deficiency
    FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
    FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
    FLNA 99.73 0 Heterotopia, periventricular
    FMN2 99.05 0 Mental retardation, autosomal recessive 47
    FMR1 94.48 0 Fragile X tremor/ataxia syndrome
    FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency
    FOXG1 84.20 0 Rett syndrome, congenital variant
    FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features
    FOXP2 99.34 0 Speech-language disorder-1
    FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency
    FRAS1 99.57 0 Fraser syndrome 1
    FREM2 99.23 0 Fraser syndrome 2
    FRMPD4 96.56 0 Mental retardation, X-linked 104
    FTCD 95.82 0 Glutamate formiminotransferase deficiency
    FTL 99.55 0 Neurodegeneration with brain iron accumulation 3
    FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism
    FTSJ1 99.69 0 Mental retardation, X-linked 9/44
    FUCA1 98.18 0 Fucosidosis
    GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
    GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43
    GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3
    GALT 99.68 0 Galactosemia
    GAMT 93.42 0 Cerebral creatine deficiency syndrome 2
    GAN 98.90 0 Giant axonal neuropathy-1
    GATAD2B 99.69 0 Mental retardation, autosomal dominant 18
    GATM 94.01 0 Cerebral creatine deficiency syndrome 3
    GBE1 98.82 0 Glycogen storage disease IV
    GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
    GCSH 86.02 0 Glycine encephalopathy
    GDI1 95.21 0 Mental retardation, X-linked 41
    GFAP 99.69 0 Alexander disease
    GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2
    GLB1 99.56 0 GM1-gangliosidosis, type I
    GLDC 97.83 0 Glycine encephalopathy
    GLI2 98.60 0 Holoprosencephaly 9
    GLI3 99.55 0 Greig cephalopolysyndactyly syndrome
    GLUL 99.68 0 Glutamine deficiency, congenital
    GLYCTK 99.69 0 D-glyceric aciduria
    GM2A 99.68 0 GM2-gangliosidosis, AB variant
    GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome
    GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
    GNAI3 99.08 0 Auriculocondylar syndrome 1
    GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17
    GNAS 97.96 0 Pseudohypoparathyroidism Ia
    GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2
    GNPTAB 99.49 0 Mucolipidosis II alpha/beta
    GNPTG 90.19 0 Mucolipidosis III gamma
    GNS 99.55 0 Mucopolysaccharidosis type IIID
    GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1
    GPHN 99.58 0 Molybdenum cofactor deficiency C
    GPSM2 99.10 0 Chudley-McCullough syndrome
    GPT2 95.20 0 Mental retardation, autosomal recessive 49
    GRIA3 89.99 0 Mental retardation, X-linked 94
    GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18
    GRIK2 99.13 0 Mental retardation, autosomal recessive, 6
    GRIN1 99.54 0 Mental retardation, autosomal dominant 8
    GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation
    GRIN2B 99.66 0 Mental retardation, autosomal dominant 6
    GRIP1 99.65 0 Fraser syndrome 3
    GRM1 99.46 0 Spinocerebellar ataxia 44
    GSS 99.59 0 Glutathione synthetase deficiency
    GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive
    GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive
    GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23
    GUSB 98.73 0 Mucopolysaccharidosis VII
    HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24
    HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID
    HDAC8 99.17 0 Cornelia de Lange syndrome 5
    HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language
    HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
    HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation
    HERC2 99.66 0 Mental retardation, autosomal recessive 38
    HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies
    HEXA 99.67 0 Tay-Sachs disease
    HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms
    HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C)
    HIVEP2 99.60 0 Mental retardation, autosomal dominant 43
    HLCS 99.60 0 Holocarboxylase synthetase deficiency
    HNMT 99.26 0 Mental retardation, autosomal recessive 51
    HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type
    HNRNPK 99.17 0 Au-Kline syndrome
    HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54
    HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome
    HPRT1 75.78 0 Lesch-Nyhan syndrome
    HRAS 99.69 0 Costello syndrome
    HSD17B10 99.97 0 HSD10 mitochondrial disease
    HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type
    HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type
    IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
    IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
    IDS 97.07 0 Mucopolysaccharidosis II
    IDUA 77.72 0 Mucopolysaccharidosis Ih/s
    IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome
    IFIH1 99.07 0 Aicardi-Goutieres syndrome 7
    IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly
    IFT27 99.69 0 Bardet-Biedl syndrome 19
    IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
    IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency
    IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34
    INPP5E 98.14 0 Joubert syndrome 1
    INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome
    IQSEC2 97.05 0 Mental retardation, X-linked 1/78
    IRX5 89.09 0 Hamamy syndrome
    CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
    ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency
    ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive
    JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
    KANSL1 99.63 0 Koolen-De Vries syndrome
    KAT6A 99.60 0 Mental retardation, autosomal dominant 32
    KAT6B 99.21 0 Genitopatellar syndrome
    KCNC1 99.05 0 Epilepsy, progressive myoclonic 7
    KCNC3 76.28 0 Spinocerebellar ataxia 13
    KCNH1 98.56 0 Temple-Baraitser syndrome
    KCNJ10 99.68 0 SESAME syndrome
    KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features
    KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome
    KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
    KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7
    KCNQ5 96.45 0 Mental retardation, autosomal dominant 46
    KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14
    KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
    KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features
    KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type
    KDM6A 94.07 0 Kabuki syndrome 2
    KIAA0586 92.34 0 Joubert syndrome 23
    KIAA0753 99.23 0 Orofaciodigital syndrome XV
    NEXMIF 97.66 0 Mental retardation, X-linked 98
    KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
    KIF1A 99.66 0 Mental retardation, autosomal dominant 9
    KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
    KIF4A 99.41 0 Mental retardation, X-linked 100
    KIF5A 99.35 0 Myoclonus, intractable, neonatal
    KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2
    KIF7 99.42 0 Joubert syndrome 12
    KIRREL3 99.66 0 Mental retardation, autosomal dominant 4
    KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy
    KMT2A 97.93 0 Wiedemann-Steiner syndrome
    KMT2C 99.31 0 Kleefstra syndrome 2
    KMT2D 99.67 0 Kabuki syndrome 1
    KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique
    KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental
    KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive
    KPTN 99.37 0 Mental retardation, autosomal recessive 41
    KRAS 99.32 0 Noonan syndrome 3
    L1CAM 99.66 0 CRASH syndrome
    L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria
    LAMA1 99.13 0 Poretti-Boltshauser syndrome
    LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency
    LAMB1 99.50 0 Lissencephaly 5
    LAMC3 97.99 0 Cortical malformations, occipital
    LAMP2 93.32 0 Danon disease
    LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
    LARP7 97.40 0 Alazami syndrome
    LAS1L 99.76 0 Wilson-Turner syndrome
    LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures
    LIG4 99.55 0 LIG4 syndrome
    LINS1 98.65 0 Mental retardation, autosomal recessive 27
    LIPT1 98.69 0 Lipoyltransferase 1 deficiency
    LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type
    LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR
    LRP2 99.40 0 Donnai-Barrow syndrome
    LZTFL1 98.67 0 Bardet-Biedl syndrome 17
    LZTR1 99.56 0 Noonan syndrome 10
    MAGEL2 98.06 0 Schaaf-Yang syndrome
    MAN1B1 98.88 0 Mental retardation, autosomal recessive 15
    MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II
    MANBA 99.01 0 Mannosidosis, beta
    MAOA 85.51 0 Brunner syndrome
    MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3
    MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4
    MASP1 99.59 0 3MC syndrome 1
    MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
    MBD5 99.52 0 Mental retardation, autosomal dominant 1
    MBOAT7 99.50 0 Mental retardation, autosomal recessive 57
    MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome
    MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency
    MCOLN1 93.43 0 Mucolipidosis IV
    MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive
    MECP2 89.77 0 Rett syndrome
    MED12 99.82 0 Opitz-Kaveggia syndrome
    MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects
    MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy
    MED23 98.87 0 Mental retardation, autosomal recessive 18
    MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
    MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation
    METTL23 99.62 0 Mental retardation, autosomal recessive 44
    MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7
    MID1 97.46 0 Opitz GBBB syndrome, type I
    MKKS 99.58 0 Bardet-Biedl syndrome 6
    MKS1 99.54 0 Bardet-Biedl syndrome 13
    MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency
    MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type
    MOCS1 99.68 0 Molybdenum cofactor deficiency A
    MOCS2 99.48 0 Molybdenum cofactor deficiency B
    MOGS 92.25 0 Congenital disorder of glycosylation, type IIb
    MPDU1 99.69 0 Congenital disorder of glycosylation, type If
    MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2
    MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive
    MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15
    MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency
    MTM1 94.11 0 Myotubular myopathy, X-linked
    MTOR 99.61 0 Smith-Kingsmore syndrome
    MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type
    MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type
    MVK 99.69 0 Mevalonic aciduria
    MYCN 82.91 0 Feingold syndrome 1
    MYO5A 97.60 0 Griscelli syndrome, type 1
    MYT1L 99.59 0 Mental retardation, autosomal dominant 39
    NAA10 87.47 0 Ogden syndrome
    NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
    NAGA 99.67 0 Schindler disease, type I
    NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B)
    NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay
    NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24
    NBN 98.67 0 Nijmegen breakage syndrome
    NDE1 99.69 0 Lissencephaly 4 (with microcephaly)
    NDP 99.56 0 Norrie disease
    NDST1 99.67 0 Mental retardation, autosomal recessive 46
    NDUFA1 97.69 0 Mitochondrial complex I deficiency
    NDUFA11 99.69 0 Mitochondrial complex I deficiency
    NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency
    NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS2 99.25 0 Mitochondrial complex I deficiency
    NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS4 99.05 0 Mitochondrial complex I deficiency
    NDUFS7 99.38 0 Leigh syndrome
    NEDD4L 98.92 0 Periventricular nodular heterotopia 7
    NFIA 99.44 0 Brain malformations and urinary tract defects
    NFIX 99.64 0 Sotos syndrome 2
    NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V
    NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
    NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2
    NHS 88.25 0 Nance-Horan syndrome
    NIN 99.20 0 Seckel syndrome 7
    NIPBL 98.53 0 Cornelia de Lange syndrome 1
    NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
    NONO 98.37 0 Mental retardation, X-linked, syndromic 34
    NOTCH1 96.74 0 Adams-Oliver syndrome 5
    NPC1 98.34 0 Niemann-Pick disease, type C1
    NPC2 99.67 0 Niemann-pick disease, type C2
    NPHP1 99.24 0 Joubert syndrome 4
    NPHP3 98.15 0 Meckel syndrome 7
    NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome
    NR5A1 99.25 0 Adrenocortical insufficiency
    NRAS 99.61 0 Noonan syndrome 6
    NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2
    NSD1 99.26 0 Sotos syndrome 1
    NSDHL 99.39 0 CHILD syndrome
    NSUN2 95.86 0 Mental retardation, autosomal recessive 5
    OCLN 99.47 0 Pseudo-TORCH syndrome 1
    OCRL 92.17 0 Lowe syndrome
    OFD1 92.99 0 Orofaciodigital syndrome I
    OGT 96.41 0 Mental retardation, X-linked 106
    OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
    ORC1 99.49 0 Meier-Gorlin syndrome 1
    ORC4 98.60 0 Meier-Gorlin syndrome 2
    ORC6 98.10 0 Meier-Gorlin syndrome 3
    OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
    OTC 92.10 0 Ornithine transcarbamylase deficiency
    OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
    PACS1 97.17 0 Schuurs-Hoeijmakers syndrome
    PAFAH1B1 98.98 0 Lissencephaly 1
    PAH 99.66 0 Phenylketonuria
    PAK3 87.10 0 Mental retardation, X-linked 30/47
    PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1
    PAX1 82.57 0 Otofaciocervical syndrome 2
    PAX3 99.68 0 Craniofacial-deafness-hand syndrome
    PAX6 99.51 0 Aniridia
    PC 99.69 0 Pyruvate carboxylase deficiency
    PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9
    PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental
    PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II
    PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance
    PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency
    PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency
    PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency
    PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2
    PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3
    PEPD 99.61 0 Prolidase deficiency
    PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger)
    PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger)
    PEX11B 99.63 0 Peroxisome biogenesis disorder 14B
    PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger)
    PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger)
    PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger)
    PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger)
    PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger)
    PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger)
    PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger)
    PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger)
    PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger)
    PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger)
    PEX7 90.36 0 Peroxisome biogenesis disorder 9B
    PGAP1 97.25 0 Mental retardation, autosomal recessive 42
    PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3
    PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4
    PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency
    PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive
    PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome
    PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type
    PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency
    PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies
    PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2
    PIGG 99.54 0 Mental retardation, autosomal recessive 53
    PIGL 99.59 0 CHIME syndrome
    PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1
    PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2
    PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3
    PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1
    PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5
    PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6
    PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
    PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B
    PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12
    PLCB4 99.09 0 Auriculocondylar syndrome 2
    PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI
    PLP1 99.86 0 Pelizaeus-Merzbacher disease
    PMM2 98.47 0 Congenital disorder of glycosylation, type Ia
    PNKP 99.68 0 Microcephaly, seizures, and developmental delay
    PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency
    POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
    POGZ 98.81 0 White-Sutton syndrome
    POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type)
    POLH 99.55 0 Xeroderma pigmentosum, variant type
    POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
    POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
    POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
    POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
    POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
    PORCN 99.91 0 Focal dermal hypoplasia
    PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
    PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2
    PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36
    PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35
    PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1
    PQBP1 99.90 0 Renpenning syndrome
    PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B
    PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures
    PRPS1 98.61 0 Arts syndrome
    PRSS12 98.69 0 Mental retardation, autosomal recessive 1
    PSAP 99.68 0 Krabbe disease, atypical
    PSMD12 99.44 0 Stankiewicz-Isidor syndrome
    PTCH1 97.64 0 Holoprosencephaly 7
    PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4
    PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism
    PTEN 98.68 0 Cowden syndrome 1
    PTPN11 97.30 0 LEOPARD syndrome 1
    PUF60 99.56 0 Verheij syndrome
    PURA 84.89 0 Mental retardation, autosomal dominant 31
    PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1
    PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB
    QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C
    RAB18 98.43 0 Warburg micro syndrome 3
    RAB27A 95.80 0 Griscelli syndrome, type 2
    RAB39B 99.96 0 Mental retardation, X-linked 72
    RAB3GAP1 99.24 0 Warburg micro syndrome 1
    RAB3GAP2 99.14 0 Martsolf syndrome
    RAC1 87.43 0 Mental retardation, autosomal dominant 48
    RAD21 99.34 0 Cornelia de Lange syndrome 4
    RAF1 99.65 0 Noonan syndrome 5
    RAI1 97.85 0 Smith-Magenis syndrome
    RARB 99.52 0 Microphthalmia, syndromic 12
    RARS2 99.20 0 Pontocerebellar hypoplasia, type 6
    RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie
    RAX 78.51 0 Microphthalmia, isolated 3
    RBBP8 96.69 0 Seckel syndrome 2
    RBM10 99.86 0 TARP syndrome
    RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome
    RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome
    RBPJ 99.36 0 Adams-Oliver syndrome 3
    RECQL4 91.13 0 Baller-Gerold syndrome
    RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type)
    RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
    RFT1 97.48 0 Congenital disorder of glycosylation, type In
    RIT1 99.66 0 Noonan syndrome 8
    RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11
    RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4
    RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2
    RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3
    RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly
    RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive
    ROGDI 90.00 0 Kohlschutter-Tonz syndrome
    RPGRIP1L 95.44 0 Joubert syndrome 7
    RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency
    RPS6KA3 85.79 0 Coffin-Lowry syndrome
    RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie
    RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5
    RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures
    SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome
    SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5
    SATB2 99.46 0 Glass syndrome
    SC5D 99.08 0 Lathosterolosis
    SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
    SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11
    SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13
    SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
    SDCCAG8 99.19 0 Bardet-Biedl syndrome 16
    SDHAF1 66.11 0 Mitochondrial complex II deficiency
    SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D
    SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
    SETBP1 98.39 0 Mental retardation, autosomal dominant 29
    SETD2 99.30 0 Luscan-Lumish syndrome
    SETD5 99.55 0 Mental retardation, autosomal dominant 23
    SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A)
    SHANK2 83.77 0 Autism susceptibility 17
    SHANK3 78.63 0 Phelan-McDermid syndrome
    SHH 90.25 0 Holoprosencephaly 3
    SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair
    SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome
    SIL1 99.65 0 Marinesco-Sjogren syndrome
    SIN3A 99.56 0 Witteveen-Kolk syndrome
    SIX3 89.54 0 Holoprosencephaly 2
    SKI 93.23 0 Shprintzen-Goldberg syndrome
    SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy
    SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome
    SLC17A5 98.53 0 Salla disease
    SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
    SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
    SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria
    SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39
    SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
    SLC25A19 99.66 0 Microcephaly, Amish type
    SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3
    SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe
    SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration
    SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm
    SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc
    SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features
    SLC46A1 97.75 0 Folate malabsorption, hereditary
    SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities
    SLC6A1 99.61 0 Myoclonic-atonic epilepsy
    SLC6A17 99.68 0 Mental retardation, autosomal recessive 48
    SLC6A3 99.68 0 Parkinsonism-dystonia, infantile
    SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1
    SLC7A7 99.67 0 Lysinuric protein intolerance
    SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type
    SMARCA2 97.63 0 Nicolaides-Baraitser syndrome
    SMARCA4 99.68 0 Coffin-Siris syndrome 4
    SMARCB1 99.47 0 Coffin-Siris syndrome 3
    SMARCE1 98.87 0 Coffin-Siris syndrome 5
    SMC1A 97.41 0 Cornelia de Lange syndrome 2
    SMC3 98.62 0 Cornelia de Lange syndrome 3
    SMOC1 98.99 0 Microphthalmia with limb anomalies
    SMPD1 99.68 0 Niemann-Pick disease, type A
    SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type
    SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
    SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
    SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20
    SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus
    SON 99.42 0 ZTTK syndrome
    SOS1 98.22 0 Noonan syndrome 4
    SOS2 98.32 0 Noonan syndrome 9
    SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement
    SOX11 84.37 0 Mental retardation, autosomal dominant, 27
    SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system
    SOX5 99.56 0 Lamb-Shaffer syndrome
    SPATA5 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome
    SPECC1L 99.49 0 Opitz GBBB syndrome, type II
    SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
    SPRED1 99.22 0 Legius syndrome
    SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5
    SRCAP 99.65 0 Floating-Harbor syndrome
    SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq
    ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12
    ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome
    STAG1 98.01 0 Mental retardation, autosomal dominant 47
    STAMBP 99.58 0 Microcephaly-capillary malformation syndrome
    STIL 99.24 0 Microcephaly 7, primary, autosomal recessive
    STRA6 99.67 0 Microphthalmia, syndromic 9
    STT3A 99.55 0 Congenital disorder of glycosylation, type Iw
    STT3B 95.54 0 Congenital disorder of glycosylation, type Ix
    STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9
    STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4
    SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
    SUOX 99.68 0 Sulfite oxidase deficiency
    SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency
    SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
    SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID
    SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8
    SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5
    SYP 93.14 0 Mental retardation, X-linked 96
    SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11
    TAF1 97.05 0 Mental retardation, X-linked, syndromic 33
    TAF2 98.57 0 Mental retardation, autosomal recessive 40
    TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11
    TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16
    TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive
    TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome
    TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
    TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41
    TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
    TCF4 99.65 0 Pitt-Hopkins syndrome
    TCOF1 99.61 0 Treacher Collins syndrome 1
    TCTN1 99.08 0 Joubert syndrome 13
    TCTN2 99.05 0 Joubert syndrome 24
    TCTN3 99.61 0 Joubert syndrome 18
    TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive
    TECR 99.69 0 Mental retardation, autosomal recessive 14
    TFAP2A 99.48 0 Branchiooculofacial syndrome
    TGIF1 99.69 0 Holoprosencephaly 4
    TH 98.57 0 Segawa syndrome, recessive
    THOC2 91.08 0 Mental retardation, X-linked 12/35
    THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome
    THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6
    TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome
    TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3
    TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
    TMEM107 99.69 0 Orofaciodigital syndrome XVI
    TMEM138 99.68 0 Joubert syndrome 16
    TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk
    TMEM216 99.69 0 Joubert syndrome 2
    TMEM231 99.62 0 Joubert syndrome 20
    TMEM237 97.88 0 Joubert syndrome 14
    TMEM67 97.57 0 Joubert syndrome 6
    TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
    TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
    TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
    TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7
    TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S
    TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13
    TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive
    TRIM32 99.68 0 Bardet-Biedl syndrome 11
    TRIO 97.17 0 Mental retardation, autosomal dominant 44
    TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
    TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1
    TRMU 94.99 0 Liver failure, transient infantile
    TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type
    TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B
    TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A
    TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3
    TSPAN7 98.69 0 Mental retardation, X-linked 58
    TTC37 99.17 0 Trichohepatoenteric syndrome 1
    TTC8 98.67 0 Bardet-Biedl syndrome 8
    TTI2 99.57 0 Mental retardation, autosomal recessive 39
    TUBA1A 99.69 0 Lissencephaly 3
    TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8
    TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5
    TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7
    TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1
    TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6
    TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4
    TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1
    TUSC3 99.45 0 Mental retardation, autosomal recessive 7
    TWIST1 59.51 0 Saethre-Chotzen syndrome
    UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type
    UBE3A 98.84 0 Angelman syndrome
    UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome
    UBR1 98.99 0 Johanson-Blizzard syndrome
    UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
    UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14
    UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4
    UROC1 99.69 0 Urocanase deficiency
    USP18 99.69 0 Pseudo-TORCH syndrome 2
    USP9X 93.59 0 Mental retardation, X-linked 99
    VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
    VPS13B 98.95 0 Cohen syndrome
    VRK1 99.08 0 Pontocerebellar hypoplasia type 1A
    WAC 97.24 0 Desanto-Shinawi syndrome
    WDPCP 98.77 0 Bardet-Biedl syndrome 15
    WDR26 99.46 0 Skraban-Deardorff syndrome
    WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5
    WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
    WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
    WDR73 99.54 0 Galloway-Mowat syndrome
    WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
    WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28
    XPA 95.49 0 Xeroderma pigmentosum, group A
    XPC 99.66 0 Xeroderma pigmentosum, group C
    XYLT1 91.40 0 Desbuquois dysplasia 2
    YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
    YY1 97.61 0 Gabriele-de Vries syndrome
    ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation
    ZBTB18 99.10 0 Mental retardation, autosomal dominant 22
    ZBTB20 99.63 0 Primrose syndrome
    ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2
    ZC4H2 97.81 0 Wieacker-Wolff syndrome
    ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type
    ZEB2 99.54 0 Mowat-Wilson syndrome
    ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive
    ZIC2 67.20 0 Holoprosencephaly 5
    ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy
    ZMYND11 99.50 0 Mental retardation, autosomal dominant 30
    ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive
    ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
    ZNF711 89.61 0 Mental retardation, X-linked 97