Belgian Genetic Tests database- Analytes
- ERBIN
ERBIN
| Name: |
erbb2 interacting protein
|
| Symbol: |
ERBIN
|
| Synonyms: |
ERBB2IP
|
| XREF(s): | |
| Created: |
11 Mar 2022 - 08:42
|
| Changed: |
11 Mar 2022 - 08:43
|
-
Neurodevelopmental disorders (1300 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 Neurodevelopmental disorders ABCC6 99.95 0 Neurodevelopmental disorders ABCC9 99.93 0 Neurodevelopmental disorders ABCD1 97.56 0 Neurodevelopmental disorders ABCD4 100.00 0 Neurodevelopmental disorders ABCG5 99.99 0 Neurodevelopmental disorders ABHD5 99.85 0 Neurodevelopmental disorders ABI2 100.00 0 Neurodevelopmental disorders ACAD9 100.00 0 Neurodevelopmental disorders ACAT1 93.45 0 Neurodevelopmental disorders ACO2 100.00 0 Neurodevelopmental disorders ACOX1 100.00 0 Neurodevelopmental disorders ACSF3 99.86 0 Neurodevelopmental disorders ACSL4 99.98 0 Neurodevelopmental disorders ACTB 100.00 0 Neurodevelopmental disorders ACTG1 100.00 0 Neurodevelopmental disorders ACVR1 100.00 0 Neurodevelopmental disorders ACY1 100.00 0 Neurodevelopmental disorders ADAR 100.00 0 Neurodevelopmental disorders ADAT3 99.45 0 Neurodevelopmental disorders COQ8A 99.92 0 Neurodevelopmental disorders ADCY5 99.17 0 Neurodevelopmental disorders ADK 100.00 0 Neurodevelopmental disorders ADNP 100.00 0 Neurodevelopmental disorders ADORA1 100.00 0 Neurodevelopmental disorders ADRA2B 100.00 0 Neurodevelopmental disorders ADSL 100.00 0 Neurodevelopmental disorders AFF2 99.91 0 Neurodevelopmental disorders AFF3 100.00 0 Neurodevelopmental disorders AFP 100.00 0 Neurodevelopmental disorders AGA 100.00 0 Neurodevelopmental disorders AGAP2 98.60 0 Neurodevelopmental disorders AGBL4 100.00 0 Neurodevelopmental disorders AGL 100.00 0 Neurodevelopmental disorders AGPAT2 93.10 0 Neurodevelopmental disorders AGXT 100.00 0 Neurodevelopmental disorders AGTR2 100.00 0 Neurodevelopmental disorders AHCY 100.00 0 Neurodevelopmental disorders AHDC1 99.99 0 Neurodevelopmental disorders AHI1 100.00 0 Neurodevelopmental disorders AIFM1 99.98 0 Neurodevelopmental disorders AIMP1 99.97 0 Neurodevelopmental disorders AIMP2 96.68 0 Neurodevelopmental disorders AK1 100.00 0 Neurodevelopmental disorders AKT1 100.00 0 Neurodevelopmental disorders AKT3 100.00 0 Neurodevelopmental disorders ALDH18A1 100.00 0 Neurodevelopmental disorders ALDH3A2 99.94 0 Neurodevelopmental disorders ALDH4A1 96.50 0 Neurodevelopmental disorders ALDH5A1 84.13 0 Neurodevelopmental disorders ALG1 78.28 0 Neurodevelopmental disorders ALG11 100.00 0 Neurodevelopmental disorders ALG12 100.00 0 Neurodevelopmental disorders ALG13 99.53 0 Neurodevelopmental disorders ALG2 99.83 0 Neurodevelopmental disorders ALG3 93.20 0 Neurodevelopmental disorders ALG6 100.00 0 Neurodevelopmental disorders ALG9 98.18 0 Neurodevelopmental disorders ALX1 100.00 0 Neurodevelopmental disorders ALX4 98.04 0 Neurodevelopmental disorders AMER1 99.97 0 Neurodevelopmental disorders AMPD2 99.90 0 Neurodevelopmental disorders AMT 100.00 0 Neurodevelopmental disorders ANK2 99.99 0 Neurodevelopmental disorders ANK3 100.00 0 Neurodevelopmental disorders ANKH 100.00 0 Neurodevelopmental disorders ANKRD11 100.00 0 Neurodevelopmental disorders ANO10 100.00 0 Neurodevelopmental disorders ANO3 100.00 0 Neurodevelopmental disorders ANO5 100.00 0 Neurodevelopmental disorders ANTXR1 99.97 0 Neurodevelopmental disorders AP1S1 100.00 0 Neurodevelopmental disorders AP1S2 100.00 0 Neurodevelopmental disorders AP3B1 100.00 0 Neurodevelopmental disorders AP4B1 100.00 0 Neurodevelopmental disorders AP4E1 99.99 0 Neurodevelopmental disorders AP4M1 100.00 0 Neurodevelopmental disorders AP4S1 100.00 0 Neurodevelopmental disorders APAF1 100.00 0 Neurodevelopmental disorders APC 100.00 0 Neurodevelopmental disorders APOB 98.90 0 Neurodevelopmental disorders APTX 99.96 0 Neurodevelopmental disorders AQP7 99.59 0 Neurodevelopmental disorders AR 100.00 0 Neurodevelopmental disorders ARFGEF2 100.00 0 Neurodevelopmental disorders ARG1 100.00 0 Neurodevelopmental disorders ARHGAP11A 100.00 0 Neurodevelopmental disorders ARHGAP24 99.97 0 Neurodevelopmental disorders ARHGEF2 100.00 0 Neurodevelopmental disorders ARHGEF4 99.85 0 Neurodevelopmental disorders ARHGEF6 100.00 0 Neurodevelopmental disorders ARHGEF9 99.92 0 Neurodevelopmental disorders ARID1A 97.21 0 Neurodevelopmental disorders ARID1B 98.17 0 Neurodevelopmental disorders ARL13B 99.98 0 Neurodevelopmental disorders ARL3 99.80 0 Neurodevelopmental disorders ARL6 100.00 0 Neurodevelopmental disorders ARMC9 100.00 0 Neurodevelopmental disorders ARSL 99.92 0 Neurodevelopmental disorders ARX 88.86 0 Neurodevelopmental disorders ASH1L 100.00 0 Neurodevelopmental disorders ASL 99.96 0 Neurodevelopmental disorders ASNS 97.93 0 Neurodevelopmental disorders ASPA 100.00 0 Neurodevelopmental disorders ASPM 100.00 0 Neurodevelopmental disorders ASS1 98.12 0 Neurodevelopmental disorders ASTN2 98.47 0 Neurodevelopmental disorders ASXL1 99.93 0 Neurodevelopmental disorders ASXL3 100.00 0 Neurodevelopmental disorders ATG5 100.00 0 Neurodevelopmental disorders ATIC 97.39 0 Neurodevelopmental disorders ATL1 99.89 0 Neurodevelopmental disorders ATM 100.00 0 Neurodevelopmental disorders ATP13A2 98.30 0 Neurodevelopmental disorders ATP1A2 99.94 0 Neurodevelopmental disorders ATP2A2 100.00 0 Neurodevelopmental disorders ATP6AP2 98.57 0 Neurodevelopmental disorders ATP6V0A2 99.97 0 Neurodevelopmental disorders ATP7A 100.00 0 Neurodevelopmental disorders ATP8A2 99.91 0 Neurodevelopmental disorders ATRX 99.89 0 Neurodevelopmental disorders ATXN1 100.00 0 Neurodevelopmental disorders ATXN7 98.67 0 Neurodevelopmental disorders AUH 99.24 0 Neurodevelopmental disorders AUTS2 99.82 0 Neurodevelopmental disorders NLRP3 100.00 0 Neurodevelopmental disorders AVPR2 99.37 0 Neurodevelopmental disorders AXIN1 100.00 0 Neurodevelopmental disorders AXL 100.00 0 Neurodevelopmental disorders B3GLCT 94.30 0 Neurodevelopmental disorders B4GAT1 99.99 0 Neurodevelopmental disorders B4GALT1 100.00 0 Neurodevelopmental disorders B4GALT7 90.50 0 Neurodevelopmental disorders BBS1 100.00 0 Neurodevelopmental disorders BBS10 100.00 0 Neurodevelopmental disorders BBS12 100.00 0 Neurodevelopmental disorders BBS2 100.00 0 Neurodevelopmental disorders BBS4 99.97 0 Neurodevelopmental disorders BBS5 100.00 0 Neurodevelopmental disorders BBS7 99.99 0 Neurodevelopmental disorders BBS9 99.93 0 Neurodevelopmental disorders BCKDHA 99.90 0 Neurodevelopmental disorders BCKDHB 100.00 0 Neurodevelopmental disorders BCL11A 100.00 0 Neurodevelopmental disorders BCOR 99.79 0 Neurodevelopmental disorders BCS1L 100.00 0 Neurodevelopmental disorders BIN1 99.94 0 Neurodevelopmental disorders BIRC6 99.99 0 Neurodevelopmental disorders BLM 100.00 0 Neurodevelopmental disorders BRAF 96.83 0 Neurodevelopmental disorders BRCA2 100.00 0 Neurodevelopmental disorders BRD4 99.43 0 Neurodevelopmental disorders BRF1 93.75 0 Neurodevelopmental disorders BRIP1 100.00 0 Neurodevelopmental disorders BRWD3 99.91 0 Neurodevelopmental disorders BSCL2 100.00 0 Neurodevelopmental disorders BTD 100.00 0 Neurodevelopmental disorders BUB1B 100.00 0 Neurodevelopmental disorders TSPOAP1 99.52 0 Neurodevelopmental disorders TWNK 100.00 0 Neurodevelopmental disorders C12ORF57 100.00 0 Neurodevelopmental disorders MTRFR 100.00 0 Neurodevelopmental disorders DIPK2A 98.86 0 Neurodevelopmental disorders CPLANE1 100.00 0 Neurodevelopmental disorders CARNMT1 97.76 0 Neurodevelopmental disorders CA2 99.97 0 Neurodevelopmental disorders CA8 100.00 0 Neurodevelopmental disorders CACNA1A 99.53 0 Neurodevelopmental disorders CACNA1B 99.04 0 Neurodevelopmental disorders CACNA1C 99.97 0 Neurodevelopmental disorders CACNA1D 99.81 0 Neurodevelopmental disorders CACNA1F 99.02 0 Neurodevelopmental disorders CACNA1G 99.97 0 Neurodevelopmental disorders CACNA1H 98.10 0 Neurodevelopmental disorders CACNA2D3 99.31 0 Neurodevelopmental disorders CACNB2 100.00 0 Neurodevelopmental disorders CACNG2 100.00 0 Neurodevelopmental disorders CACNG7 99.94 0 Neurodevelopmental disorders CALM1 100.00 0 Neurodevelopmental disorders CAMTA1 99.98 0 Neurodevelopmental disorders CANT1 100.00 0 Neurodevelopmental disorders CAPN12 100.00 0 Neurodevelopmental disorders CASK 99.99 0 Neurodevelopmental disorders CBL 100.00 0 Neurodevelopmental disorders CBS 99.85 0 Neurodevelopmental disorders CC2D1A 99.45 0 Neurodevelopmental disorders CC2D2A 100.00 0 Neurodevelopmental disorders CCAR2 99.98 0 Neurodevelopmental disorders CCBE1 99.32 0 Neurodevelopmental disorders CFAP53 100.00 0 Neurodevelopmental disorders CCDC174 100.00 0 Neurodevelopmental disorders CCDC22 97.87 0 Neurodevelopmental disorders CCDC39 100.00 0 Neurodevelopmental disorders CCDC78 100.00 0 Neurodevelopmental disorders CCDC88C 99.64 0 Neurodevelopmental disorders CCNT1 100.00 0 Neurodevelopmental disorders CCSER1 100.00 0 Neurodevelopmental disorders CD163L1 99.94 0 Neurodevelopmental disorders CDC42BPB 99.67 0 Neurodevelopmental disorders CDH11 100.00 0 Neurodevelopmental disorders CDH15 94.37 0 Neurodevelopmental disorders CDK5RAP2 100.00 0 Neurodevelopmental disorders CDKL5 99.77 0 Neurodevelopmental disorders CDKN1C 85.53 0 Neurodevelopmental disorders CDON 100.00 0 Neurodevelopmental disorders CELSR1 95.69 0 Neurodevelopmental disorders CENPJ 100.00 0 Neurodevelopmental disorders CEP135 99.96 0 Neurodevelopmental disorders CEP152 100.00 0 Neurodevelopmental disorders CEP290 100.00 0 Neurodevelopmental disorders CEP41 100.00 0 Neurodevelopmental disorders CEP57 100.00 0 Neurodevelopmental disorders CHAMP1 100.00 0 Neurodevelopmental disorders CHAT 99.97 0 Neurodevelopmental disorders CHD1 100.00 0 Neurodevelopmental disorders CHD1L 99.95 0 Neurodevelopmental disorders CHD2 100.00 0 Neurodevelopmental disorders CHD3 97.53 0 Neurodevelopmental disorders CHD4 99.13 0 Neurodevelopmental disorders CHD7 100.00 0 Neurodevelopmental disorders CHD8 100.00 0 Neurodevelopmental disorders CHKB 99.75 0 Neurodevelopmental disorders CHRNA2 99.99 0 Neurodevelopmental disorders CHRNA4 94.66 0 Neurodevelopmental disorders CHRND 100.00 0 Neurodevelopmental disorders CHST11 100.00 0 Neurodevelopmental disorders CIC 99.22 0 Neurodevelopmental disorders CLCN4 100.00 0 Neurodevelopmental disorders CLCN7 95.85 0 Neurodevelopmental disorders CLCNKB 99.96 0 Neurodevelopmental disorders CLIC2 99.96 0 Neurodevelopmental disorders CLIP1 100.00 0 Neurodevelopmental disorders CLN3 100.00 0 Neurodevelopmental disorders CLN5 98.80 0 Neurodevelopmental disorders CLN6 100.00 0 Neurodevelopmental disorders CLN8 100.00 0 Neurodevelopmental disorders CLPB 99.94 0 Neurodevelopmental disorders CMIP 99.43 0 Neurodevelopmental disorders CNKSR2 99.82 0 Neurodevelopmental disorders CNOT1 99.97 0 Neurodevelopmental disorders CNOT3 100.00 0 Neurodevelopmental disorders CNOT4 100.00 0 Neurodevelopmental disorders CNOT6 100.00 0 Neurodevelopmental disorders CNTN3 100.00 0 Neurodevelopmental disorders CNTN4 100.00 0 Neurodevelopmental disorders CNTNAP2 99.10 0 Neurodevelopmental disorders COA3 100.00 0 Neurodevelopmental disorders COG1 99.01 0 Neurodevelopmental disorders COG5 99.95 0 Neurodevelopmental disorders COG6 100.00 0 Neurodevelopmental disorders COG7 100.00 0 Neurodevelopmental disorders COG8 99.96 0 Neurodevelopmental disorders COL11A1 100.00 0 Neurodevelopmental disorders COL1A2 99.33 0 Neurodevelopmental disorders COL25A1 99.96 0 Neurodevelopmental disorders COL27A1 99.65 0 Neurodevelopmental disorders COL4A1 98.48 0 Neurodevelopmental disorders COL4A2 100.00 0 Neurodevelopmental disorders CERT1 99.99 0 Neurodevelopmental disorders COLEC11 100.00 0 Neurodevelopmental disorders COPB2 99.91 0 Neurodevelopmental disorders COQ2 99.66 0 Neurodevelopmental disorders COX10 100.00 0 Neurodevelopmental disorders COX15 99.99 0 Neurodevelopmental disorders CP 100.00 0 Neurodevelopmental disorders CYP2A6 100.00 0 Neurodevelopmental disorders CYP21A2 100.00 0 Neurodevelopmental disorders CRADD 100.00 0 Neurodevelopmental disorders CRBN 100.00 0 Neurodevelopmental disorders CREB1 99.99 0 Neurodevelopmental disorders CREBBP 99.97 0 Neurodevelopmental disorders CSMD1 100.00 0 Neurodevelopmental disorders CSNK2A1 100.00 0 Neurodevelopmental disorders CSTF2T 100.00 0 Neurodevelopmental disorders CTC1 99.70 0 Neurodevelopmental disorders CTCF 100.00 0 Neurodevelopmental disorders CTDP1 92.47 0 Neurodevelopmental disorders CTNNB1 100.00 0 Neurodevelopmental disorders CTSA 99.94 0 Neurodevelopmental disorders CTSD 93.41 0 Neurodevelopmental disorders CTTNBP2 99.83 0 Neurodevelopmental disorders CUBN 100.00 0 Neurodevelopmental disorders CUL3 100.00 0 Neurodevelopmental disorders CUL4B 99.51 0 Neurodevelopmental disorders CUL5 99.99 0 Neurodevelopmental disorders CUX2 99.78 0 Neurodevelopmental disorders CYB5R3 100.00 0 Neurodevelopmental disorders CYFIP1 99.90 0 Neurodevelopmental disorders CYP27A1 99.38 0 Neurodevelopmental disorders D2HGDH 99.95 0 Neurodevelopmental disorders DAG1 100.00 0 Neurodevelopmental disorders DAGLA 99.99 0 Neurodevelopmental disorders DARS2 100.00 0 Neurodevelopmental disorders DBT 100.00 0 Neurodevelopmental disorders DCAF17 96.96 0 Neurodevelopmental disorders DCPS 100.00 0 Neurodevelopmental disorders DCX 99.94 0 Neurodevelopmental disorders DDHD2 100.00 0 Neurodevelopmental disorders DDX11 99.92 0 Neurodevelopmental disorders DDX3X 100.00 0 Neurodevelopmental disorders DEAF1 97.27 0 Neurodevelopmental disorders DHCR24 98.73 0 Neurodevelopmental disorders DHCR7 99.97 0 Neurodevelopmental disorders DHFR 91.86 0 Neurodevelopmental disorders DHTKD1 99.54 0 Neurodevelopmental disorders DHX9 100.00 0 Neurodevelopmental disorders DIAPH1 99.95 0 Neurodevelopmental disorders DIAPH3 100.00 0 Neurodevelopmental disorders DIP2A 99.87 0 Neurodevelopmental disorders DIP2B 99.66 0 Neurodevelopmental disorders DISC1 0.00 0 Neurodevelopmental disorders DKC1 99.88 0 Neurodevelopmental disorders DLD 100.00 0 Neurodevelopmental disorders DLG2 100.00 0 Neurodevelopmental disorders DLG3 99.58 0 Neurodevelopmental disorders DLG4 100.00 0 Neurodevelopmental disorders DLGAP1 99.92 0 Neurodevelopmental disorders DMD 99.96 0 Neurodevelopmental disorders DMPK 99.91 0 Neurodevelopmental disorders DNAH5 100.00 0 Neurodevelopmental disorders DNAJC19 99.65 0 Neurodevelopmental disorders DNM1 93.52 0 Neurodevelopmental disorders DNMT1 99.54 0 Neurodevelopmental disorders DNMT3A 99.73 0 Neurodevelopmental disorders DNMT3B 100.00 0 Neurodevelopmental disorders DOCK6 99.15 0 Neurodevelopmental disorders DOCK8 99.94 0 Neurodevelopmental disorders DPAGT1 100.00 0 Neurodevelopmental disorders DPF2 100.00 0 Neurodevelopmental disorders DPH1 99.97 0 Neurodevelopmental disorders DPM1 100.00 0 Neurodevelopmental disorders DPP6 99.83 0 Neurodevelopmental disorders DPYD 100.00 0 Neurodevelopmental disorders DSCAM 99.93 0 Neurodevelopmental disorders DST 100.00 0 Neurodevelopmental disorders DUSP15 83.59 0 Neurodevelopmental disorders DYM 100.00 0 Neurodevelopmental disorders DYNC1H1 99.92 0 Neurodevelopmental disorders DYRK1A 100.00 0 Neurodevelopmental disorders GLB1 100.00 0 Neurodevelopmental disorders ECM2 100.00 0 Neurodevelopmental disorders EDC3 100.00 0 Neurodevelopmental disorders EFCAB5 99.99 0 Neurodevelopmental disorders EFNB1 100.00 0 Neurodevelopmental disorders EFNB2 100.00 0 Neurodevelopmental disorders EFL1 100.00 0 Neurodevelopmental disorders EFTUD2 99.99 0 Neurodevelopmental disorders EHMT1 97.78 0 Neurodevelopmental disorders EI24 99.67 0 Neurodevelopmental disorders EIF2AK3 96.33 0 Neurodevelopmental disorders EIF2S3 100.00 0 Neurodevelopmental disorders EIF3G 100.00 0 Neurodevelopmental disorders EIF4A1 99.36 0 Neurodevelopmental disorders EIF4G1 100.00 0 Neurodevelopmental disorders ELAVL2 100.00 0 Neurodevelopmental disorders ELK1 99.85 0 Neurodevelopmental disorders ELOVL4 100.00 0 Neurodevelopmental disorders ELP2 100.00 0 Neurodevelopmental disorders EMC1 100.00 0 Neurodevelopmental disorders EML1 98.26 0 Neurodevelopmental disorders EMX2 99.97 0 Neurodevelopmental disorders EN2 99.85 0 Neurodevelopmental disorders EP300 100.00 0 Neurodevelopmental disorders EP400 100.00 0 Neurodevelopmental disorders EPB41L1 100.00 0 Neurodevelopmental disorders EPHA5 99.93 0 Neurodevelopmental disorders EPHB2 96.50 0 Neurodevelopmental disorders ERBIN 100.00 0 Neurodevelopmental disorders ERBB4 100.00 0 Neurodevelopmental disorders ERCC2 99.22 0 Neurodevelopmental disorders ERCC3 100.00 0 Neurodevelopmental disorders ERCC5 100.00 0 Neurodevelopmental disorders ERCC6 100.00 0 Neurodevelopmental disorders ERCC8 100.00 0 Neurodevelopmental disorders ERLIN2 100.00 0 Neurodevelopmental disorders ESCO2 100.00 0 Neurodevelopmental disorders ETFB 100.00 0 Neurodevelopmental disorders ETHE1 97.84 0 Neurodevelopmental disorders EXOC3L2 99.73 0 Neurodevelopmental disorders EXOSC3 100.00 0 Neurodevelopmental disorders EXT1 100.00 0 Neurodevelopmental disorders EZH2 100.00 0 Neurodevelopmental disorders EZR 100.00 0 Neurodevelopmental disorders F5 99.99 0 Neurodevelopmental disorders FAAH2 100.00 0 Neurodevelopmental disorders OTULIN 87.40 0 Neurodevelopmental disorders HYCC1 100.00 0 Neurodevelopmental disorders FAM177A1 100.00 0 Neurodevelopmental disorders FANCB 100.00 0 Neurodevelopmental disorders FANCD2 100.00 0 Neurodevelopmental disorders FANCG 99.98 0 Neurodevelopmental disorders FBLN5 100.00 0 Neurodevelopmental disorders FBN1 100.00 0 Neurodevelopmental disorders FBN2 100.00 0 Neurodevelopmental disorders FBXO31 94.11 0 Neurodevelopmental disorders FBXO33 92.42 0 Neurodevelopmental disorders FEZF2 99.95 0 Neurodevelopmental disorders FGD1 99.24 0 Neurodevelopmental disorders FGF14 100.00 0 Neurodevelopmental disorders FGFR1 99.94 0 Neurodevelopmental disorders FGFR2 100.00 0 Neurodevelopmental disorders FGFR3 99.24 0 Neurodevelopmental disorders FGG 100.00 0 Neurodevelopmental disorders FH 100.00 0 Neurodevelopmental disorders FHIT 100.00 0 Neurodevelopmental disorders FIGN 100.00 0 Neurodevelopmental disorders FKRP 100.00 0 Neurodevelopmental disorders FKTN 100.00 0 Neurodevelopmental disorders FLNA 99.75 0 Neurodevelopmental disorders FLVCR1 100.00 0 Neurodevelopmental disorders FMN2 100.00 0 Neurodevelopmental disorders FMR1 99.99 0 Neurodevelopmental disorders FOLR1 100.00 0 Neurodevelopmental disorders FOXG1 92.10 0 Neurodevelopmental disorders FOXP1 100.00 0 Neurodevelopmental disorders FOXP2 99.61 0 Neurodevelopmental disorders FOXP3 99.44 0 Neurodevelopmental disorders FRAS1 100.00 0 Neurodevelopmental disorders FRMPD4 99.90 0 Neurodevelopmental disorders FRRS1L 82.37 0 Neurodevelopmental disorders FTCD 96.32 0 Neurodevelopmental disorders FTO 100.00 0 Neurodevelopmental disorders FTSJ1 100.00 0 Neurodevelopmental disorders FUCA1 99.91 0 Neurodevelopmental disorders FXR1 99.74 0 Neurodevelopmental disorders G6PC3 100.00 0 Neurodevelopmental disorders GABRA1 100.00 0 Neurodevelopmental disorders GABRA5 100.00 0 Neurodevelopmental disorders GABRB3 100.00 0 Neurodevelopmental disorders GABRG2 91.70 0 Neurodevelopmental disorders GABRG3 99.57 0 Neurodevelopmental disorders GAD1 100.00 0 Neurodevelopmental disorders GALE 100.00 0 Neurodevelopmental disorders GALK1 99.40 0 Neurodevelopmental disorders GALNT18 100.00 0 Neurodevelopmental disorders GALT 100.00 0 Neurodevelopmental disorders GAMT 97.00 0 Neurodevelopmental disorders GAN 98.52 0 Neurodevelopmental disorders GARNL3 100.00 0 Neurodevelopmental disorders GARS1 97.89 0 Neurodevelopmental disorders GAS2 100.00 0 Neurodevelopmental disorders GATAD2B 100.00 0 Neurodevelopmental disorders GATM 98.74 0 Neurodevelopmental disorders GBA1 100.00 0 Neurodevelopmental disorders GBE1 100.00 0 Neurodevelopmental disorders GCH1 99.71 0 Neurodevelopmental disorders GCK 99.13 0 Neurodevelopmental disorders GCOM1 95.06 0 Neurodevelopmental disorders GCSH 73.97 0 Neurodevelopmental disorders GDI1 99.45 0 Neurodevelopmental disorders GFAP 100.00 0 Neurodevelopmental disorders GFM1 100.00 0 Neurodevelopmental disorders GHR 99.41 0 Neurodevelopmental disorders GIGYF1 99.99 0 Neurodevelopmental disorders GIMAP8 100.00 0 Neurodevelopmental disorders GJB1 100.00 0 Neurodevelopmental disorders GJB6 100.00 0 Neurodevelopmental disorders GJC2 96.72 0 Neurodevelopmental disorders GK 98.88 0 Neurodevelopmental disorders GLDC 97.39 0 Neurodevelopmental disorders GLI2 96.28 0 Neurodevelopmental disorders GLI3 100.00 0 Neurodevelopmental disorders GLO1 100.00 0 Neurodevelopmental disorders GLRA1 100.00 0 Neurodevelopmental disorders GLUL 100.00 0 Neurodevelopmental disorders GLYCTK 98.86 0 Neurodevelopmental disorders GM2A 100.00 0 Neurodevelopmental disorders GMPPA 100.00 0 Neurodevelopmental disorders GMPPB 100.00 0 Neurodevelopmental disorders GNAO1 100.00 0 Neurodevelopmental disorders GNAS 100.00 0 Neurodevelopmental disorders GNB1 100.00 0 Neurodevelopmental disorders GNB5 98.67 0 Neurodevelopmental disorders GNPAT 100.00 0 Neurodevelopmental disorders GNPTAB 99.91 0 Neurodevelopmental disorders GNPTG 95.92 0 Neurodevelopmental disorders GNRHR 100.00 0 Neurodevelopmental disorders GNS 100.00 0 Neurodevelopmental disorders GORASP2 99.76 0 Neurodevelopmental disorders GP1BB 44.39 0 Neurodevelopmental disorders GPC3 99.72 0 Neurodevelopmental disorders GPHN 100.00 0 Neurodevelopmental disorders GPKOW 99.98 0 Neurodevelopmental disorders GPR37 100.00 0 Neurodevelopmental disorders ADGRG1 99.99 0 Neurodevelopmental disorders GPT2 97.87 0 Neurodevelopmental disorders GRB2 100.00 0 Neurodevelopmental disorders GRIA3 99.99 0 Neurodevelopmental disorders GRIA4 100.00 0 Neurodevelopmental disorders GRID2 100.00 0 Neurodevelopmental disorders GRIK2 100.00 0 Neurodevelopmental disorders GRIN1 99.80 0 Neurodevelopmental disorders GRIN2A 100.00 0 Neurodevelopmental disorders GRIN2B 100.00 0 Neurodevelopmental disorders GRIN3B 87.60 0 Neurodevelopmental disorders GRM1 99.99 0 Neurodevelopmental disorders GSE1 99.15 0 Neurodevelopmental disorders GSPT2 99.99 0 Neurodevelopmental disorders GSS 100.00 0 Neurodevelopmental disorders GTF2H5 100.00 0 Neurodevelopmental disorders GTF2IRD1 99.04 0 Neurodevelopmental disorders GTF3C1 100.00 0 Neurodevelopmental disorders GTPBP2 99.78 0 Neurodevelopmental disorders GUSB 97.13 0 Neurodevelopmental disorders GYS2 100.00 0 Neurodevelopmental disorders HAL 99.95 0 Neurodevelopmental disorders HAX1 100.00 0 Neurodevelopmental disorders HCCS 100.00 0 Neurodevelopmental disorders HCFC1 99.85 0 Neurodevelopmental disorders HCN1 99.93 0 Neurodevelopmental disorders HDAC4 99.86 0 Neurodevelopmental disorders HDAC6 99.91 0 Neurodevelopmental disorders HDAC8 99.75 0 Neurodevelopmental disorders HDAC9 100.00 0 Neurodevelopmental disorders HECTD1 100.00 0 Neurodevelopmental disorders HECW2 100.00 0 Neurodevelopmental disorders HEPACAM 99.85 0 Neurodevelopmental disorders HERC1 100.00 0 Neurodevelopmental disorders HERC2 97.66 0 Neurodevelopmental disorders HESX1 100.00 0 Neurodevelopmental disorders HEXA 100.00 0 Neurodevelopmental disorders HEXB 99.19 0 Neurodevelopmental disorders H1-4 99.57 0 Neurodevelopmental disorders H4C2 100.00 0 Neurodevelopmental disorders HIVEP2 99.91 0 Neurodevelopmental disorders HIVEP3 100.00 0 Neurodevelopmental disorders HLCS 100.00 0 Neurodevelopmental disorders HMGA2 93.67 0 Neurodevelopmental disorders HNMT 100.00 0 Neurodevelopmental disorders HNRNPH1 100.00 0 Neurodevelopmental disorders HNRNPU 99.82 0 Neurodevelopmental disorders HNRNPUL1 99.31 0 Neurodevelopmental disorders HOXA1 100.00 0 Neurodevelopmental disorders HOXB1 100.00 0 Neurodevelopmental disorders HOXD10 100.00 0 Neurodevelopmental disorders HPD 100.00 0 Neurodevelopmental disorders HPRT1 92.71 0 Neurodevelopmental disorders HRAS 100.00 0 Neurodevelopmental disorders HSD17B10 100.00 0 Neurodevelopmental disorders HSPA4 100.00 0 Neurodevelopmental disorders HSPD1 95.18 0 Neurodevelopmental disorders HTR2A 100.00 0 Neurodevelopmental disorders HUWE1 99.95 0 Neurodevelopmental disorders IARS1 100.00 0 Neurodevelopmental disorders IDH2 93.11 0 Neurodevelopmental disorders IDS 99.88 0 Neurodevelopmental disorders IDUA 91.86 0 Neurodevelopmental disorders IER3IP1 99.44 0 Neurodevelopmental disorders IFT172 100.00 0 Neurodevelopmental disorders IGBP1 99.53 0 Neurodevelopmental disorders IGF1 100.00 0 Neurodevelopmental disorders IGF1R 100.00 0 Neurodevelopmental disorders IKBKG 96.89 0 Neurodevelopmental disorders IL1RAPL1 99.95 0 Neurodevelopmental disorders ILF2 100.00 0 Neurodevelopmental disorders INPP5E 99.14 0 Neurodevelopmental disorders INSR 96.68 0 Neurodevelopmental disorders INTU 100.00 0 Neurodevelopmental disorders IQGAP3 100.00 0 Neurodevelopmental disorders IQSEC2 98.53 0 Neurodevelopmental disorders IRS1 100.00 0 Neurodevelopmental disorders IRX5 98.24 0 Neurodevelopmental disorders CRPPA 95.50 0 Neurodevelopmental disorders ITGA7 100.00 0 Neurodevelopmental disorders ITGB3 99.17 0 Neurodevelopmental disorders ITPR1 99.99 0 Neurodevelopmental disorders ITSN1 99.99 0 Neurodevelopmental disorders JADE2 100.00 0 Neurodevelopmental disorders JAG1 99.87 0 Neurodevelopmental disorders JAM3 99.88 0 Neurodevelopmental disorders JMJD1C 100.00 0 Neurodevelopmental disorders JUP 100.00 0 Neurodevelopmental disorders KANK1 100.00 0 Neurodevelopmental disorders KANSL1 100.00 0 Neurodevelopmental disorders KAT6A 100.00 0 Neurodevelopmental disorders KAT6B 100.00 0 Neurodevelopmental disorders KATNAL2 100.00 0 Neurodevelopmental disorders KATNB1 99.90 0 Neurodevelopmental disorders KCNA1 100.00 0 Neurodevelopmental disorders KCNH1 100.00 0 Neurodevelopmental disorders KCNJ10 100.00 0 Neurodevelopmental disorders KCNJ11 100.00 0 Neurodevelopmental disorders KCNJ6 100.00 0 Neurodevelopmental disorders KCNK9 100.00 0 Neurodevelopmental disorders KCNMA1 99.93 0 Neurodevelopmental disorders KCNQ2 99.92 0 Neurodevelopmental disorders KCNQ3 98.20 0 Neurodevelopmental disorders KCNQ4 94.57 0 Neurodevelopmental disorders KCNT1 98.96 0 Neurodevelopmental disorders KCTD7 100.00 0 Neurodevelopmental disorders KDM1A 99.82 0 Neurodevelopmental disorders KDM5A 100.00 0 Neurodevelopmental disorders KDM5B 100.00 0 Neurodevelopmental disorders KDM5C 99.97 0 Neurodevelopmental disorders KDM6A 99.72 0 Neurodevelopmental disorders KDM6B 99.91 0 Neurodevelopmental disorders RUBCN 96.60 0 Neurodevelopmental disorders KIAA0753 100.00 0 Neurodevelopmental disorders WASHC4 98.56 0 Neurodevelopmental disorders KIAA1109 99.99 0 Neurodevelopmental disorders KIFBP 100.00 0 Neurodevelopmental disorders CIP2A 100.00 0 Neurodevelopmental disorders LNPK 99.88 0 Neurodevelopmental disorders NEXMIF 100.00 0 Neurodevelopmental disorders KIF11 100.00 0 Neurodevelopmental disorders KIF16B 99.96 0 Neurodevelopmental disorders KIF1A 98.74 0 Neurodevelopmental disorders KIF21A 98.54 0 Neurodevelopmental disorders KIF26B 99.95 0 Neurodevelopmental disorders KIF2A 99.97 0 Neurodevelopmental disorders KIF4A 99.86 0 Neurodevelopmental disorders KIF5A 100.00 0 Neurodevelopmental disorders KIF5C 100.00 0 Neurodevelopmental disorders KIF7 99.64 0 Neurodevelopmental disorders KIRREL3 100.00 0 Neurodevelopmental disorders KIT 99.95 0 Neurodevelopmental disorders KLC2 100.00 0 Neurodevelopmental disorders KLF7 100.00 0 Neurodevelopmental disorders KLF8 99.94 0 Neurodevelopmental disorders KMT2A 99.70 0 Neurodevelopmental disorders KMT2C 100.00 0 Neurodevelopmental disorders KMT2D 99.98 0 Neurodevelopmental disorders KMT2E 99.98 0 Neurodevelopmental disorders KPTN 100.00 0 Neurodevelopmental disorders KRAS 100.00 0 Neurodevelopmental disorders KRBOX4 100.00 0 Neurodevelopmental disorders KRT18 72.23 0 Neurodevelopmental disorders KRT24 100.00 0 Neurodevelopmental disorders KRT8 94.97 0 Neurodevelopmental disorders KYNU 100.00 0 Neurodevelopmental disorders L1CAM 99.98 0 Neurodevelopmental disorders L2HGDH 99.75 0 Neurodevelopmental disorders LAMA1 99.79 0 Neurodevelopmental disorders LAMA2 100.00 0 Neurodevelopmental disorders LAMB1 100.00 0 Neurodevelopmental disorders LAMC3 98.42 0 Neurodevelopmental disorders LAMP2 99.60 0 Neurodevelopmental disorders LARGE1 100.00 0 Neurodevelopmental disorders LARP7 100.00 0 Neurodevelopmental disorders LAS1L 99.53 0 Neurodevelopmental disorders LBR 100.00 0 Neurodevelopmental disorders LCT 100.00 0 Neurodevelopmental disorders LHX3 90.58 0 Neurodevelopmental disorders LIG4 100.00 0 Neurodevelopmental disorders LINS1 100.00 0 Neurodevelopmental disorders LMAN2L 100.00 0 Neurodevelopmental disorders LMBRD1 100.00 0 Neurodevelopmental disorders ADGRL2 99.98 0 Neurodevelopmental disorders LRP1 100.00 0 Neurodevelopmental disorders LRP2 99.71 0 Neurodevelopmental disorders LRP5 96.72 0 Neurodevelopmental disorders LRPPRC 98.80 0 Neurodevelopmental disorders LRRC7 100.00 0 Neurodevelopmental disorders LYST 100.00 0 Neurodevelopmental disorders MAGEL2 99.88 0 Neurodevelopmental disorders MAGT1 100.00 0 Neurodevelopmental disorders MAN1B1 99.81 0 Neurodevelopmental disorders MAN2B1 99.30 0 Neurodevelopmental disorders MANBA 99.49 0 Neurodevelopmental disorders MAOA 98.99 0 Neurodevelopmental disorders MAP1B 99.93 0 Neurodevelopmental disorders MAP2 100.00 0 Neurodevelopmental disorders MAP2K1 100.00 0 Neurodevelopmental disorders MAP2K2 99.99 0 Neurodevelopmental disorders MAPK1 99.88 0 Neurodevelopmental disorders MAPK3 99.96 0 Neurodevelopmental disorders MAPRE2 100.00 0 Neurodevelopmental disorders MAPT 100.00 0 Neurodevelopmental disorders MAT1A 100.00 0 Neurodevelopmental disorders MBD3 100.00 0 Neurodevelopmental disorders MBD5 100.00 0 Neurodevelopmental disorders MBTPS2 100.00 0 Neurodevelopmental disorders MCCC1 99.77 0 Neurodevelopmental disorders MCCC2 99.65 0 Neurodevelopmental disorders MCOLN1 95.75 0 Neurodevelopmental disorders MCPH1 99.70 0 Neurodevelopmental disorders MDM2 100.00 0 Neurodevelopmental disorders MECP2 96.46 0 Neurodevelopmental disorders MED12 99.02 0 Neurodevelopmental disorders MED13L 99.95 0 Neurodevelopmental disorders MED17 100.00 0 Neurodevelopmental disorders MED23 99.94 0 Neurodevelopmental disorders MED29 100.00 0 Neurodevelopmental disorders MEF2C 100.00 0 Neurodevelopmental disorders MET 100.00 0 Neurodevelopmental disorders METTL23 100.00 0 Neurodevelopmental disorders MFRP 100.00 0 Neurodevelopmental disorders MFSD8 100.00 0 Neurodevelopmental disorders MGAT2 100.00 0 Neurodevelopmental disorders MIB1 100.00 0 Neurodevelopmental disorders MID1 100.00 0 Neurodevelopmental disorders MID2 100.00 0 Neurodevelopmental disorders MIR222 100.00 0 Neurodevelopmental disorders MKKS 100.00 0 Neurodevelopmental disorders MLH1 100.00 0 Neurodevelopmental disorders MLYCD 96.09 0 Neurodevelopmental disorders MMAA 100.00 0 Neurodevelopmental disorders MMACHC 100.00 0 Neurodevelopmental disorders MMADHC 100.00 0 Neurodevelopmental disorders MMP21 97.88 0 Neurodevelopmental disorders MOCS1 99.94 0 Neurodevelopmental disorders MOCS2 100.00 0 Neurodevelopmental disorders MOGS 98.86 0 Neurodevelopmental disorders MOV10 100.00 0 Neurodevelopmental disorders MPDU1 100.00 0 Neurodevelopmental disorders MPDZ 100.00 0 Neurodevelopmental disorders MPHOSPH8 100.00 0 Neurodevelopmental disorders MPI 100.00 0 Neurodevelopmental disorders MPLKIP 100.00 0 Neurodevelopmental disorders MPZ 99.80 0 Neurodevelopmental disorders MRAP 100.00 0 Neurodevelopmental disorders MRPS22 98.08 0 Neurodevelopmental disorders MSH6 99.89 0 Neurodevelopmental disorders MST1R 100.00 0 Neurodevelopmental disorders MTFMT 97.83 0 Neurodevelopmental disorders MTHFR 100.00 0 Neurodevelopmental disorders MTHFS 94.81 0 Neurodevelopmental disorders MTM1 99.91 0 Neurodevelopmental disorders MTMR2 99.55 0 Neurodevelopmental disorders MTR 100.00 0 Neurodevelopmental disorders MTRR 100.00 0 Neurodevelopmental disorders MMUT 99.99 0 Neurodevelopmental disorders MVK 100.00 0 Neurodevelopmental disorders MYCN 99.89 0 Neurodevelopmental disorders MYH10 100.00 0 Neurodevelopmental disorders MYH7B 99.85 0 Neurodevelopmental disorders MYH9 99.99 0 Neurodevelopmental disorders MYO1E 99.57 0 Neurodevelopmental disorders MYO3A 100.00 0 Neurodevelopmental disorders MYO5A 99.67 0 Neurodevelopmental disorders MYO7A 99.88 0 Neurodevelopmental disorders MYOC 100.00 0 Neurodevelopmental disorders MYT1L 100.00 0 Neurodevelopmental disorders NAA10 96.95 0 Neurodevelopmental disorders NAA15 100.00 0 Neurodevelopmental disorders NAGA 100.00 0 Neurodevelopmental disorders NAGLU 96.69 0 Neurodevelopmental disorders NALCN 100.00 0 Neurodevelopmental disorders NANS 100.00 0 Neurodevelopmental disorders NAV2 100.00 0 Neurodevelopmental disorders NBEA 97.18 0 Neurodevelopmental disorders NBN 100.00 0 Neurodevelopmental disorders NCKAP1 100.00 0 Neurodevelopmental disorders NDE1 100.00 0 Neurodevelopmental disorders NDP 100.00 0 Neurodevelopmental disorders NDST1 100.00 0 Neurodevelopmental disorders NDUFA1 100.00 0 Neurodevelopmental disorders NDUFA10 96.45 0 Neurodevelopmental disorders NDUFA11 80.54 0 Neurodevelopmental disorders NDUFA12 100.00 0 Neurodevelopmental disorders NDUFAF5 99.96 0 Neurodevelopmental disorders NDUFS1 100.00 0 Neurodevelopmental disorders NDUFS2 100.00 0 Neurodevelopmental disorders NDUFS3 100.00 0 Neurodevelopmental disorders NDUFS4 99.96 0 Neurodevelopmental disorders NDUFS7 93.34 0 Neurodevelopmental disorders NDUFS8 100.00 0 Neurodevelopmental disorders NDUFV1 99.62 0 Neurodevelopmental disorders NEDD4L 98.66 0 Neurodevelopmental disorders NEDD9 100.00 0 Neurodevelopmental disorders NEU1 100.00 0 Neurodevelopmental disorders NF1 98.78 0 Neurodevelopmental disorders NFATC1 99.80 0 Neurodevelopmental disorders NFIA 99.95 0 Neurodevelopmental disorders NFIX 94.60 0 Neurodevelopmental disorders NGF 100.00 0 Neurodevelopmental disorders NHEJ1 100.00 0 Neurodevelopmental disorders NHP2 100.00 0 Neurodevelopmental disorders NHS 92.80 0 Neurodevelopmental disorders NIPBL 99.48 0 Neurodevelopmental disorders NKX2-1 97.73 0 Neurodevelopmental disorders NLGN1 100.00 0 Neurodevelopmental disorders NLGN3 99.95 0 Neurodevelopmental disorders NLGN4X 100.00 0 Neurodevelopmental disorders NLGN4Y 60.20 0 Neurodevelopmental disorders NOG 99.95 0 Neurodevelopmental disorders NONO 100.00 0 Neurodevelopmental disorders NOTCH3 93.46 0 Neurodevelopmental disorders NPC1 97.50 0 Neurodevelopmental disorders NPC2 100.00 0 Neurodevelopmental disorders NPHP1 100.00 0 Neurodevelopmental disorders NPHP3 99.99 0 Neurodevelopmental disorders NR2F1 99.99 0 Neurodevelopmental disorders NR3C2 99.99 0 Neurodevelopmental disorders NR4A2 100.00 0 Neurodevelopmental disorders NRAS 100.00 0 Neurodevelopmental disorders NRCAM 100.00 0 Neurodevelopmental disorders NRG3 99.55 0 Neurodevelopmental disorders NRIP1 100.00 0 Neurodevelopmental disorders NRXN1 99.87 0 Neurodevelopmental disorders NRXN2 93.76 0 Neurodevelopmental disorders NSD1 100.00 0 Neurodevelopmental disorders NSDHL 100.00 0 Neurodevelopmental disorders NSUN2 99.69 0 Neurodevelopmental disorders NTRK1 98.36 0 Neurodevelopmental disorders NTRK2 100.00 0 Neurodevelopmental disorders NUAK1 99.69 0 Neurodevelopmental disorders NXF5 98.08 0 Neurodevelopmental disorders OBSL1 99.88 0 Neurodevelopmental disorders OCA2 99.49 0 Neurodevelopmental disorders OCLN 100.00 0 Neurodevelopmental disorders OCRL 98.81 0 Neurodevelopmental disorders ODC1 100.00 0 Neurodevelopmental disorders OFD1 97.13 0 Neurodevelopmental disorders OGT 99.90 0 Neurodevelopmental disorders OPHN1 99.94 0 Neurodevelopmental disorders SLC25A15 100.00 0 Neurodevelopmental disorders OTC 99.17 0 Neurodevelopmental disorders OXTR 92.68 0 Neurodevelopmental disorders PACS1 98.26 0 Neurodevelopmental disorders PAFAH1B1 100.00 0 Neurodevelopmental disorders PAH 100.00 0 Neurodevelopmental disorders PAK3 98.75 0 Neurodevelopmental disorders PANK2 100.00 0 Neurodevelopmental disorders PARD3B 100.00 0 Neurodevelopmental disorders PARP1 100.00 0 Neurodevelopmental disorders PAX1 96.00 0 Neurodevelopmental disorders PAX5 100.00 0 Neurodevelopmental disorders PAX6 100.00 0 Neurodevelopmental disorders PAX8 99.96 0 Neurodevelopmental disorders PBRM1 100.00 0 Neurodevelopmental disorders PODXL 100.00 0 Neurodevelopmental disorders PCDH10 99.96 0 Neurodevelopmental disorders PCDH19 98.99 0 Neurodevelopmental disorders PCGF2 100.00 0 Neurodevelopmental disorders PCLO 100.00 0 Neurodevelopmental disorders PCNT 99.88 0 Neurodevelopmental disorders PDE1C 99.99 0 Neurodevelopmental disorders PDE4D 99.96 0 Neurodevelopmental disorders PDE8B 98.72 0 Neurodevelopmental disorders PDHA1 92.64 0 Neurodevelopmental disorders PDHX 100.00 0 Neurodevelopmental disorders PDSS1 85.11 0 Neurodevelopmental disorders PDSS2 100.00 0 Neurodevelopmental disorders PEPD 97.88 0 Neurodevelopmental disorders PER2 100.00 0 Neurodevelopmental disorders PEX1 100.00 0 Neurodevelopmental disorders PEX10 87.10 0 Neurodevelopmental disorders PEX11B 100.00 0 Neurodevelopmental disorders PEX12 100.00 0 Neurodevelopmental disorders PEX13 100.00 0 Neurodevelopmental disorders PEX16 99.97 0 Neurodevelopmental disorders PEX19 100.00 0 Neurodevelopmental disorders PEX2 100.00 0 Neurodevelopmental disorders PEX26 100.00 0 Neurodevelopmental disorders PEX3 100.00 0 Neurodevelopmental disorders PEX5 100.00 0 Neurodevelopmental disorders PEX6 99.74 0 Neurodevelopmental disorders PEX7 95.60 0 Neurodevelopmental disorders PGA5 100.00 0 Neurodevelopmental disorders PGAP1 100.00 0 Neurodevelopmental disorders PGAP2 100.00 0 Neurodevelopmental disorders PGAP3 98.48 0 Neurodevelopmental disorders PGK1 99.88 0 Neurodevelopmental disorders PHF2 99.95 0 Neurodevelopmental disorders PHF21A 100.00 0 Neurodevelopmental disorders PHF6 100.00 0 Neurodevelopmental disorders PHF8 100.00 0 Neurodevelopmental disorders PHGDH 100.00 0 Neurodevelopmental disorders PHIP 99.68 0 Neurodevelopmental disorders PHKA2 99.88 0 Neurodevelopmental disorders PHKG2 100.00 0 Neurodevelopmental disorders PIAS1 99.99 0 Neurodevelopmental disorders PIGG 100.00 0 Neurodevelopmental disorders PIGL 100.00 0 Neurodevelopmental disorders PIGN 100.00 0 Neurodevelopmental disorders PIGO 100.00 0 Neurodevelopmental disorders PIGS 99.99 0 Neurodevelopmental disorders PIGT 100.00 0 Neurodevelopmental disorders PIGV 100.00 0 Neurodevelopmental disorders PIGW 100.00 0 Neurodevelopmental disorders PIGY 100.00 0 Neurodevelopmental disorders PIK3R2 88.52 0 Neurodevelopmental disorders PLA2G6 100.00 0 Neurodevelopmental disorders PLCB1 100.00 0 Neurodevelopmental disorders PLP1 100.00 0 Neurodevelopmental disorders PLXNB1 100.00 0 Neurodevelopmental disorders PMM2 100.00 0 Neurodevelopmental disorders PNKP 99.84 0 Neurodevelopmental disorders PNP 100.00 0 Neurodevelopmental disorders POC1A 99.00 0 Neurodevelopmental disorders POGZ 100.00 0 Neurodevelopmental disorders POLG 100.00 0 Neurodevelopmental disorders POLR2M 100.00 0 Neurodevelopmental disorders POLR3A 100.00 0 Neurodevelopmental disorders POLR3B 100.00 0 Neurodevelopmental disorders POMC 100.00 0 Neurodevelopmental disorders POMGNT1 100.00 0 Neurodevelopmental disorders POMGNT2 100.00 0 Neurodevelopmental disorders POMT1 100.00 0 Neurodevelopmental disorders POMT2 99.53 0 Neurodevelopmental disorders PORCN 98.59 0 Neurodevelopmental disorders POT1 99.99 0 Neurodevelopmental disorders POU1F1 100.00 0 Neurodevelopmental disorders POU3F3 71.08 0 Neurodevelopmental disorders POU3F4 100.00 0 Neurodevelopmental disorders PPM1D 100.00 0 Neurodevelopmental disorders HCRT 100.00 0 Neurodevelopmental disorders PPP1CB 100.00 0 Neurodevelopmental disorders PPP1R1B 100.00 0 Neurodevelopmental disorders PPP2R1A 100.00 0 Neurodevelopmental disorders PPP2R5D 100.00 0 Neurodevelopmental disorders PPT1 100.00 0 Neurodevelopmental disorders PQBP1 99.91 0 Neurodevelopmental disorders PRICKLE1 100.00 0 Neurodevelopmental disorders PRKAR1A 100.00 0 Neurodevelopmental disorders PRKRA 99.64 0 Neurodevelopmental disorders PRMT7 100.00 0 Neurodevelopmental disorders PRODH 88.26 0 Neurodevelopmental disorders PRPS1 99.91 0 Neurodevelopmental disorders PRR12 99.99 0 Neurodevelopmental disorders PRRT2 100.00 0 Neurodevelopmental disorders PRSS12 100.00 0 Neurodevelopmental disorders PSAP 100.00 0 Neurodevelopmental disorders PSEN1 100.00 0 Neurodevelopmental disorders PTCH1 98.82 0 Neurodevelopmental disorders PTCHD1 99.78 0 Neurodevelopmental disorders PTDSS1 100.00 0 Neurodevelopmental disorders PTEN 99.45 0 Neurodevelopmental disorders PTHLH 100.00 0 Neurodevelopmental disorders PTK7 100.00 0 Neurodevelopmental disorders PTPN11 94.43 0 Neurodevelopmental disorders PUF60 99.31 0 Neurodevelopmental disorders PUM1 100.00 0 Neurodevelopmental disorders PURA 95.47 0 Neurodevelopmental disorders PUS1 100.00 0 Neurodevelopmental disorders PUS3 100.00 0 Neurodevelopmental disorders PUS7 100.00 0 Neurodevelopmental disorders NECTIN1 99.19 0 Neurodevelopmental disorders PYCR1 100.00 0 Neurodevelopmental disorders PYCR2 100.00 0 Neurodevelopmental disorders PYGL 100.00 0 Neurodevelopmental disorders QRICH1 100.00 0 Neurodevelopmental disorders RAB18 99.99 0 Neurodevelopmental disorders RAB27A 100.00 0 Neurodevelopmental disorders RAB39B 100.00 0 Neurodevelopmental disorders RAB3GAP1 100.00 0 Neurodevelopmental disorders RAB3GAP2 100.00 0 Neurodevelopmental disorders RAB40AL 99.91 0 Neurodevelopmental disorders RABL6 99.42 0 Neurodevelopmental disorders NCOA3 88.47 0 Neurodevelopmental disorders RAD21 100.00 0 Neurodevelopmental disorders RAF1 100.00 0 Neurodevelopmental disorders RAI1 93.59 0 Neurodevelopmental disorders RALGAPB 100.00 0 Neurodevelopmental disorders RALGDS 92.25 0 Neurodevelopmental disorders RANBP17 98.10 0 Neurodevelopmental disorders RAPSN 100.00 0 Neurodevelopmental disorders RARS2 100.00 0 Neurodevelopmental disorders RASGEF1B 100.00 0 Neurodevelopmental disorders RBBP8 99.97 0 Neurodevelopmental disorders RBFOX1 98.87 0 Neurodevelopmental disorders RBL2 98.63 0 Neurodevelopmental disorders RBM10 99.23 0 Neurodevelopmental disorders RBM28 98.67 0 Neurodevelopmental disorders RELN 100.00 0 Neurodevelopmental disorders RERE 99.81 0 Neurodevelopmental disorders REV3L 99.86 0 Neurodevelopmental disorders RFT1 99.87 0 Neurodevelopmental disorders RFX3 100.00 0 Neurodevelopmental disorders RFX6 100.00 0 Neurodevelopmental disorders RIC8A 99.98 0 Neurodevelopmental disorders RIMS1 100.00 0 Neurodevelopmental disorders RIT1 100.00 0 Neurodevelopmental disorders RMND1 99.49 0 Neurodevelopmental disorders RMRP 100.00 0 Neurodevelopmental disorders RNASEH2A 100.00 0 Neurodevelopmental disorders RNASEH2B 94.58 0 Neurodevelopmental disorders RNASEH2C 100.00 0 Neurodevelopmental disorders RNASET2 100.00 0 Neurodevelopmental disorders RNF125 99.99 0 Neurodevelopmental disorders RNF213 100.00 0 Neurodevelopmental disorders ROGDI 91.40 0 Neurodevelopmental disorders RP2 99.78 0 Neurodevelopmental disorders RPGRIP1L 96.40 0 Neurodevelopmental disorders RPL15 99.14 0 Neurodevelopmental disorders RPS6KA2 100.00 0 Neurodevelopmental disorders RPS6KA3 96.78 0 Neurodevelopmental disorders RRAS 97.75 0 Neurodevelopmental disorders RTEL1 100.00 0 Neurodevelopmental disorders RTN2 99.44 0 Neurodevelopmental disorders RTN4IP1 100.00 0 Neurodevelopmental disorders RUNX1 99.48 0 Neurodevelopmental disorders RUVBL1 100.00 0 Neurodevelopmental disorders RYR1 99.39 0 Neurodevelopmental disorders RYR2 100.00 0 Neurodevelopmental disorders S100G 98.92 0 Neurodevelopmental disorders SACS 99.95 0 Neurodevelopmental disorders SALL1 100.00 0 Neurodevelopmental disorders SAMHD1 100.00 0 Neurodevelopmental disorders SARDH 99.83 0 Neurodevelopmental disorders SARS2 100.00 0 Neurodevelopmental disorders SATB2 99.34 0 Neurodevelopmental disorders SBF1 98.38 0 Neurodevelopmental disorders SC5D 100.00 0 Neurodevelopmental disorders SCAPER 99.94 0 Neurodevelopmental disorders SCN1A 100.00 0 Neurodevelopmental disorders SCN2A 100.00 0 Neurodevelopmental disorders SCN7A 100.00 0 Neurodevelopmental disorders SCN8A 100.00 0 Neurodevelopmental disorders SCN9A 99.99 0 Neurodevelopmental disorders SCO2 93.85 0 Neurodevelopmental disorders SDCCAG8 100.00 0 Neurodevelopmental disorders SDHA 95.31 0 Neurodevelopmental disorders SDK1 96.50 0 Neurodevelopmental disorders SERAC1 100.00 0 Neurodevelopmental disorders SETBP1 100.00 0 Neurodevelopmental disorders SETD1A 100.00 0 Neurodevelopmental disorders SETD1B 99.89 0 Neurodevelopmental disorders SETD2 100.00 0 Neurodevelopmental disorders SETD5 100.00 0 Neurodevelopmental disorders NR5A1 87.73 0 Neurodevelopmental disorders SFPQ 99.89 0 Neurodevelopmental disorders SGCA 100.00 0 Neurodevelopmental disorders SGSH 99.85 0 Neurodevelopmental disorders SHANK1 99.69 0 Neurodevelopmental disorders SHANK2 100.00 0 Neurodevelopmental disorders SHANK3 90.31 0 Neurodevelopmental disorders SHC1 100.00 0 Neurodevelopmental disorders SHH 99.47 0 Neurodevelopmental disorders SHOC2 100.00 0 Neurodevelopmental disorders SHOX 98.69 0 Neurodevelopmental disorders SHROOM4 99.98 0 Neurodevelopmental disorders SIL1 99.95 0 Neurodevelopmental disorders SIN3A 97.83 0 Neurodevelopmental disorders SIX3 99.61 0 Neurodevelopmental disorders HHAT 92.45 0 Neurodevelopmental disorders SLC12A6 100.00 0 Neurodevelopmental disorders SLC16A2 99.97 0 Neurodevelopmental disorders SLC17A5 100.00 0 Neurodevelopmental disorders SLC1A1 100.00 0 Neurodevelopmental disorders SLC1A4 99.98 0 Neurodevelopmental disorders SLC20A2 100.00 0 Neurodevelopmental disorders SLC24A2 99.82 0 Neurodevelopmental disorders SLC25A1 98.83 0 Neurodevelopmental disorders SLC25A12 100.00 0 Neurodevelopmental disorders SLC25A13 100.00 0 Neurodevelopmental disorders SLC25A22 100.00 0 Neurodevelopmental disorders SLC25A24 99.90 0 Neurodevelopmental disorders SLC26A9 100.00 0 Neurodevelopmental disorders SLC2A1 100.00 0 Neurodevelopmental disorders SLC2A2 99.95 0 Neurodevelopmental disorders SLC33A1 100.00 0 Neurodevelopmental disorders SLC35A2 100.00 0 Neurodevelopmental disorders SLC35C1 100.00 0 Neurodevelopmental disorders SLC39A8 98.92 0 Neurodevelopmental disorders SLC46A1 99.98 0 Neurodevelopmental disorders SLC4A4 100.00 0 Neurodevelopmental disorders SLC5A2 99.99 0 Neurodevelopmental disorders SLC5A5 99.97 0 Neurodevelopmental disorders SLC6A1 100.00 0 Neurodevelopmental disorders SLC6A17 100.00 0 Neurodevelopmental disorders SLC6A3 100.00 0 Neurodevelopmental disorders SLC6A4 100.00 0 Neurodevelopmental disorders SLC6A8 99.41 0 Neurodevelopmental disorders SLC7A7 100.00 0 Neurodevelopmental disorders SLC9A6 99.66 0 Neurodevelopmental disorders SLC9A7 95.89 0 Neurodevelopmental disorders SLC9A9 100.00 0 Neurodevelopmental disorders SLCO1B1 99.89 0 Neurodevelopmental disorders SLCO1B3 99.94 0 Neurodevelopmental disorders SLX4 100.00 0 Neurodevelopmental disorders SMAD2 100.00 0 Neurodevelopmental disorders SMAD4 98.47 0 Neurodevelopmental disorders SMARCA2 98.99 0 Neurodevelopmental disorders SMARCA4 100.00 0 Neurodevelopmental disorders SMARCB1 100.00 0 Neurodevelopmental disorders SMARCC2 100.00 0 Neurodevelopmental disorders SMARCE1 98.46 0 Neurodevelopmental disorders SMC1A 99.87 0 Neurodevelopmental disorders SMC3 100.00 0 Neurodevelopmental disorders SMG6 96.90 0 Neurodevelopmental disorders SMOC1 98.05 0 Neurodevelopmental disorders SMPD1 100.00 0 Neurodevelopmental disorders SNAP29 100.00 0 Neurodevelopmental disorders SNIP1 100.00 0 Neurodevelopmental disorders SNRPA 100.00 0 Neurodevelopmental disorders SNX14 99.98 0 Neurodevelopmental disorders SNX19 99.99 0 Neurodevelopmental disorders SOBP 95.50 0 Neurodevelopmental disorders SON 100.00 0 Neurodevelopmental disorders SOS1 100.00 0 Neurodevelopmental disorders SOS2 99.96 0 Neurodevelopmental disorders SOX10 95.36 0 Neurodevelopmental disorders SOX11 100.00 0 Neurodevelopmental disorders SOX2 95.35 0 Neurodevelopmental disorders SOX3 97.06 0 Neurodevelopmental disorders SOX5 100.00 0 Neurodevelopmental disorders SPAST 99.83 0 Neurodevelopmental disorders AFG2A 99.97 0 Neurodevelopmental disorders SPG11 100.00 0 Neurodevelopmental disorders SPG7 95.78 0 Neurodevelopmental disorders SPR 99.98 0 Neurodevelopmental disorders SPRED1 100.00 0 Neurodevelopmental disorders SPTAN1 100.00 0 Neurodevelopmental disorders SPTLC1 99.27 0 Neurodevelopmental disorders SRCAP 100.00 0 Neurodevelopmental disorders SRD5A3 98.61 0 Neurodevelopmental disorders SREBF2 99.91 0 Neurodevelopmental disorders SRGAP3 100.00 0 Neurodevelopmental disorders SRPX2 99.04 0 Neurodevelopmental disorders ST3GAL3 100.00 0 Neurodevelopmental disorders ST3GAL5 90.70 0 Neurodevelopmental disorders STAG1 100.00 0 Neurodevelopmental disorders STAT5B 100.00 0 Neurodevelopmental disorders STIL 100.00 0 Neurodevelopmental disorders STRA6 100.00 0 Neurodevelopmental disorders STS 99.91 0 Neurodevelopmental disorders STT3A 100.00 0 Neurodevelopmental disorders STT3B 100.00 0 Neurodevelopmental disorders STX11 100.00 0 Neurodevelopmental disorders STXBP1 100.00 0 Neurodevelopmental disorders STXBP5 100.00 0 Neurodevelopmental disorders SUCLA2 99.86 0 Neurodevelopmental disorders SUCLG1 93.27 0 Neurodevelopmental disorders SUOX 100.00 0 Neurodevelopmental disorders SUPT16H 100.00 0 Neurodevelopmental disorders SURF1 82.91 0 Neurodevelopmental disorders KMT5B 100.00 0 Neurodevelopmental disorders SYN1 96.00 0 Neurodevelopmental disorders SYNE1 100.00 0 Neurodevelopmental disorders SYNGAP1 99.76 0 Neurodevelopmental disorders SYNM 92.93 0 Neurodevelopmental disorders SYNPO 100.00 0 Neurodevelopmental disorders SYP 97.84 0 Neurodevelopmental disorders SYT14 92.28 0 Neurodevelopmental disorders SYT3 99.96 0 Neurodevelopmental disorders TAF1 99.98 0 Neurodevelopmental disorders TAF13 100.00 0 Neurodevelopmental disorders TAF2 100.00 0 Neurodevelopmental disorders TAT 100.00 0 Neurodevelopmental disorders TBC1D24 99.99 0 Neurodevelopmental disorders TBC1D7 100.00 0 Neurodevelopmental disorders TBCE 100.00 0 Neurodevelopmental disorders TBCK 100.00 0 Neurodevelopmental disorders TBR1 99.60 0 Neurodevelopmental disorders TBX1 83.55 0 Neurodevelopmental disorders TCF20 100.00 0 Neurodevelopmental disorders TCF3 99.97 0 Neurodevelopmental disorders TCF4 100.00 0 Neurodevelopmental disorders TCF7L2 100.00 0 Neurodevelopmental disorders TDG 100.00 0 Neurodevelopmental disorders TECR 100.00 0 Neurodevelopmental disorders TELO2 98.19 0 Neurodevelopmental disorders TENM1 99.91 0 Neurodevelopmental disorders TET3 100.00 0 Neurodevelopmental disorders TFAP2A 99.96 0 Neurodevelopmental disorders TGFBR1 91.80 0 Neurodevelopmental disorders TGFBR2 100.00 0 Neurodevelopmental disorders TGIF1 100.00 0 Neurodevelopmental disorders TGM1 100.00 0 Neurodevelopmental disorders TH 98.79 0 Neurodevelopmental disorders THOC2 99.62 0 Neurodevelopmental disorders THOC6 100.00 0 Neurodevelopmental disorders THRA 100.00 0 Neurodevelopmental disorders THRB 100.00 0 Neurodevelopmental disorders THSD1 100.00 0 Neurodevelopmental disorders TIMM8A 99.00 0 Neurodevelopmental disorders TINF2 99.94 0 Neurodevelopmental disorders TMCO1 100.00 0 Neurodevelopmental disorders TMEM107 100.00 0 Neurodevelopmental disorders TMEM135 100.00 0 Neurodevelopmental disorders TMEM165 91.64 0 Neurodevelopmental disorders TMEM216 99.87 0 Neurodevelopmental disorders TMEM231 100.00 0 Neurodevelopmental disorders TMEM237 99.85 0 Neurodevelopmental disorders TMEM67 99.95 0 Neurodevelopmental disorders TMEM70 100.00 0 Neurodevelopmental disorders TMLHE 99.11 0 Neurodevelopmental disorders TNIK 100.00 0 Neurodevelopmental disorders TNK2 99.86 0 Neurodevelopmental disorders TNRC6B 99.93 0 Neurodevelopmental disorders TOPORS 100.00 0 Neurodevelopmental disorders TOR1A 99.70 0 Neurodevelopmental disorders TDO2 100.00 0 Neurodevelopmental disorders TPK1 99.99 0 Neurodevelopmental disorders THPO 99.80 0 Neurodevelopmental disorders ACD 99.99 0 Neurodevelopmental disorders TPTE 99.28 0 Neurodevelopmental disorders TRAF7 99.04 0 Neurodevelopmental disorders TRAPPC11 99.97 0 Neurodevelopmental disorders TRAPPC12 99.96 0 Neurodevelopmental disorders TRAPPC9 99.15 0 Neurodevelopmental disorders TREX1 100.00 0 Neurodevelopmental disorders TRHR 100.00 0 Neurodevelopmental disorders TRIM10 100.00 0 Neurodevelopmental disorders TRIM3 100.00 0 Neurodevelopmental disorders TRIM32 100.00 0 Neurodevelopmental disorders TRIO 98.86 0 Neurodevelopmental disorders TRIP12 100.00 0 Neurodevelopmental disorders TRMT10A 100.00 0 Neurodevelopmental disorders TRPM3 100.00 0 Neurodevelopmental disorders TRPM6 100.00 0 Neurodevelopmental disorders TRPV4 100.00 0 Neurodevelopmental disorders TRPV6 100.00 0 Neurodevelopmental disorders TSC1 100.00 0 Neurodevelopmental disorders TSC2 99.94 0 Neurodevelopmental disorders TSEN54 91.60 0 Neurodevelopmental disorders TSHR 100.00 0 Neurodevelopmental disorders TSPAN7 99.05 0 Neurodevelopmental disorders SKIC3 99.99 0 Neurodevelopmental disorders TTC8 99.73 0 Neurodevelopmental disorders TTC9 91.41 0 Neurodevelopmental disorders TTI2 100.00 0 Neurodevelopmental disorders TTN 100.00 0 Neurodevelopmental disorders TTR 100.00 0 Neurodevelopmental disorders TUBA1A 100.00 0 Neurodevelopmental disorders TUBA8 99.98 0 Neurodevelopmental disorders TUBB 100.00 0 Neurodevelopmental disorders TUBB2B 100.00 0 Neurodevelopmental disorders TUBB3 99.01 0 Neurodevelopmental disorders TUBGCP4 99.17 0 Neurodevelopmental disorders TUBGCP6 100.00 0 Neurodevelopmental disorders TUSC3 100.00 0 Neurodevelopmental disorders TWIST1 97.62 0 Neurodevelopmental disorders UBE2A 100.00 0 Neurodevelopmental disorders UBE3A 100.00 0 Neurodevelopmental disorders UBE3B 100.00 0 Neurodevelopmental disorders UBR1 100.00 0 Neurodevelopmental disorders UBTF 100.00 0 Neurodevelopmental disorders UNC50 100.00 0 Neurodevelopmental disorders UNC80 99.98 0 Neurodevelopmental disorders UPB1 100.00 0 Neurodevelopmental disorders UPF3B 99.86 0 Neurodevelopmental disorders UROC1 99.97 0 Neurodevelopmental disorders USP9X 100.00 0 Neurodevelopmental disorders UTP6 100.00 0 Neurodevelopmental disorders VCP 97.10 0 Neurodevelopmental disorders VLDLR 96.00 0 Neurodevelopmental disorders VPS13B 100.00 0 Neurodevelopmental disorders VPS39 99.94 0 Neurodevelopmental disorders VPS4A 100.00 0 Neurodevelopmental disorders VRK1 100.00 0 Neurodevelopmental disorders WAC 100.00 0 Neurodevelopmental disorders WDFY3 100.00 0 Neurodevelopmental disorders WDR11 100.00 0 Neurodevelopmental disorders WDR13 99.05 0 Neurodevelopmental disorders WDR19 100.00 0 Neurodevelopmental disorders WDR26 99.54 0 Neurodevelopmental disorders WDR4 100.00 0 Neurodevelopmental disorders WDR45 100.00 0 Neurodevelopmental disorders WDR45B 99.94 0 Neurodevelopmental disorders WDR62 100.00 0 Neurodevelopmental disorders WDR73 100.00 0 Neurodevelopmental disorders WDR81 99.63 0 Neurodevelopmental disorders NSD2 100.00 0 Neurodevelopmental disorders WNT2 100.00 0 Neurodevelopmental disorders WRN 100.00 0 Neurodevelopmental disorders WWOX 100.00 0 Neurodevelopmental disorders XPA 98.10 0 Neurodevelopmental disorders XPNPEP3 100.00 0 Neurodevelopmental disorders XPO5 100.00 0 Neurodevelopmental disorders XYLT1 89.98 0 Neurodevelopmental disorders YAP1 99.86 0 Neurodevelopmental disorders YEATS2 100.00 0 Neurodevelopmental disorders YTHDC1 99.99 0 Neurodevelopmental disorders YWHAE 91.19 0 Neurodevelopmental disorders YY1 99.76 0 Neurodevelopmental disorders ZBTB11 100.00 0 Neurodevelopmental disorders ZBTB16 100.00 0 Neurodevelopmental disorders ZBTB18 99.54 0 Neurodevelopmental disorders ZBTB20 100.00 0 Neurodevelopmental disorders ZBTB24 100.00 0 Neurodevelopmental disorders ZC3H14 99.55 0 Neurodevelopmental disorders ZC3H4 99.95 0 Neurodevelopmental disorders ZCCHC12 100.00 0 Neurodevelopmental disorders ZDHHC15 98.46 0 Neurodevelopmental disorders ZDHHC9 100.00 0 Neurodevelopmental disorders ZEB2 99.96 0 Neurodevelopmental disorders ZFHX4 100.00 0 Neurodevelopmental disorders ZFP57 100.00 0 Neurodevelopmental disorders ZFYVE26 100.00 0 Neurodevelopmental disorders ZIC2 95.66 0 Neurodevelopmental disorders ZMYM3 99.98 0 Neurodevelopmental disorders ZMYND11 100.00 0 Neurodevelopmental disorders ZPR1 100.00 0 Neurodevelopmental disorders ZNF292 100.00 0 Neurodevelopmental disorders ZNF407 100.00 0 Neurodevelopmental disorders ZNF41 100.00 0 Neurodevelopmental disorders ZNF526 100.00 0 Neurodevelopmental disorders ZNF559 100.00 0 Neurodevelopmental disorders ZNF592 100.00 0 Neurodevelopmental disorders ZNF594 100.00 0 Neurodevelopmental disorders ZNF599 99.76 0 Neurodevelopmental disorders ZNF674 100.00 0 Neurodevelopmental disorders ZNF697 99.70 0 Neurodevelopmental disorders ZNF711 99.98 0 Neurodevelopmental disorders ZNF774 100.00 0 Neurodevelopmental disorders ZNF8 100.00 0 Neurodevelopmental disorders ZNF81 99.55 0 Neurodevelopmental disorders ZNF827 100.00 0 Neurodevelopmental disorders ZNRF3 94.23 0 Neurodevelopmental disorders ZWILCH 100.00 0 Neurodevelopmental disorders -
Primary immune deficiencies (444 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95% ACP5 95.00 0 NM_001111035.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ADA 95.00 0 NM_000022.3/ interpretable range CS1>95% ADA2 95.00 1 NM_001282225.1/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.6/ interpretable range CS1>95% ADAR 95.00 0 NM_001111.5/ interpretable range CS1>95% AICDA 95.00 0 NM_020661.3/ interpretable range CS1>95% AIRE 95.00 0 NM_000383.3/ interpretable range CS1>95% AK2 95.00 0 NM_001625.3/ interpretable range CS1>95% ALPI 95.00 0 NM_001631.4/ interpretable range CS1>95% AP1S3 95.00 0 NM_001039569.1/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% APOL1 95.00 0 NM_003661.3/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.4/ interpretable range CS1>95% ATAD3A 95.00 0 NM_001170535.2/ interpretable range CS1>95% ATG4A 95.00 0 NM_052936.4/ interpretable range CS1>95% ATM 95.00 0 NM_000051.3/ interpretable range CS1>95% ATP6AP1 95.00 0 NM_001183.5/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% B2M 95.00 0 NM_004048.2/ interpretable range CS1>95% BACH2 95.00 0 NM_021813.3/ interpretable range CS1>95% BCL10 95.00 0 NM_003921.5/ interpretable range CS1>95% BCL11B 95.00 0 NM_138576.3/ interpretable range CS1>95% BLM 95.00 0 NM_000057.3/ interpretable range CS1>95% BLNK 95.00 0 NM_013314.3/ interpretable range CS1>95% BPIFA1 95.00 0 NM_016583.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% C1QA 95.00 0 NM_015991.3/ interpretable range CS1>95% C1QB 95.00 0 NM_000491.4/ interpretable range CS1>95% C1QC 95.00 0 NM_172369.4/ interpretable range CS1>95% C1R 95.00 0 NM_001733.6/ interpretable range CS1>95% C1S 95.00 0 NM_201442.3/ interpretable range CS1>95% C2 95.00 0 NM_000063.5/ interpretable range CS1>95% C2orf69 95.00 0 NM_153689.5/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% C5 95.00 0 NM_001735.2/ interpretable range CS1>95% C6 95.00 0 NM_000065.3/ interpretable range CS1>95% C7 95.00 0 NM_000587.3/ interpretable range CS1>95% C8A 95.00 0 NM_000562.2/ interpretable range CS1>95% C8B 95.00 0 NM_000066.3/ interpretable range CS1>95% C9 95.00 0 NM_001737.4/ interpretable range CS1>95% CARD11 95.00 0 NM_032415.5/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CARD9 95.00 0 NM_052813.4/ interpretable range CS1>95% CARMIL2 95.00 0 NM_001013838.2/ interpretable range CS1>95% CASP10 95.00 0 NM_032977.3/ interpretable range CS1>95% CASP8 95.00 0 NM_001228.4/ interpretable range CS1>95% CCBE1 95.00 0 NM_133459.4/ interpretable range CS1>95% CD19 95.00 0 NM_001770.5/ interpretable range CS1>95% CD247 95.00 0 NM_198053.2/ interpretable range CS1>95% CD27 95.00 0 NM_001242.4/ interpretable range CS1>95% CD28 95.00 0 NM_006139.3/ interpretable range CS1>95% CD3D 95.00 0 NM_000732.4/ interpretable range CS1>95% CD3E 95.00 0 NM_000733.3/ interpretable range CS1>95% CD3G 95.00 0 NM_000073.2/ interpretable range CS1>95% CD4 95.00 0 NM_000616.4/ interpretable range CS1>95% CD40 95.00 0 NM_001250.5/ interpretable range CS1>95% CD40LG 95.00 0 NM_000074.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CD48 95.00 0 NM_001778.3/ interpretable range CS1>95% CD55 95.00 0 NM_000574.4/ interpretable range CS1>95% CD59 95.00 0 NM_203330.2/ interpretable range CS1>95% CD70 95.00 0 NM_001252.4/ interpretable range CS1>95% CD79A 95.00 0 NM_001783.3/ interpretable range CS1>95% CD79B 95.00 0 NM_000626.3/ interpretable range CS1>95% CD81 95.00 0 NM_004356.3/ interpretable range CS1>95% CD8A 95.00 0 NM_001768.6/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CDCA7 95.00 0 NM_031942.4/ interpretable range CS1>95% CDH17 95.00 0 NM_004063.3/ interpretable range CS1>95% CEBPE 95.00 0 NM_001805.3/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFD 95.00 0 NM_001928.3/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR2 95.00 0 NM_005666.3/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR4 95.00 0 NM_001201550.2/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CFP 95.00 0 NM_002621.2/ interpretable range CS1>95% CFTR 95.00 0 NM_000492.3/ interpretable range CS1>95% CHD7 95.00 0 NM_017780.3/ interpretable range CS1>95% CHUK 95.00 0 NM_001278.4/ interpretable range CS1>95% CIB1 95.00 0 NM_006384.3/ interpretable range CS1>95% CIITA 95.00 0 NM_000246.3/ interpretable range CS1>95% CLCN7 95.00 0 NM_001287.5/ interpretable range CS1>95% CLPB 95.00 0 NM_030813.5/ interpretable range CS1>95% COPA 95.00 0 NM_004371.3/ interpretable range CS1>95% COPG1 95.00 0 NM_016128.3/ interpretable range CS1>95% CORO1A 95.00 0 NM_007074.3/ interpretable range CS1>95% CR2 95.00 0 NM_001006658.2/ interpretable range CS1>95% CRACR2A 95.00 0 NM_001144958.1/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.2/ interpretable range CS1>95% CSF3R 95.00 0 NM_000760.3/ interpretable range CS1>95% CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95% CTLA4 95.00 0 NM_005214.4/ interpretable range CS1>95% CTNNBL1 95.00 0 NM_030877.4/ interpretable range CS1>95% CTPS1 95.00 0 NM_001905.3/ interpretable range CS1>95% CTSC 95.00 0 NM_001814.5/ interpretable range CS1>95% CXCR2 95.00 0 NM_001557.3/ interpretable range CS1>95% CXCR4 95.00 0 NM_003467.2/ interpretable range CS1>95% CYBA 95.00 0 NM_000101.3/ interpretable range CS1>95% CYBB 95.00 1 NM_000397.3/ interpretable range CS1>95% CYBC1 95.00 0 NM_001033046.3/ interpretable range CS1>95% DBR1 95.00 0 NM_016216.3/ interpretable range CS1>95% DCLRE1B 95.00 0 NM_022836.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DEF6 95.00 0 NM_022047.3/ interpretable range CS1>95% DGAT1 95.00 0 NM_012079.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95% DNAJC21 95.00 0 NM_001012339.3/ interpretable range CS1>95% DNASE1 95.00 0 NM_005223.3/ interpretable range CS1>95% DNASE1L3 95.00 0 NM_004944.3/ interpretable range CS1>95% DNASE2 95.00 0 NM_001375.2/ interpretable range CS1>95% DNMT3B 95.00 0 NM_006892.3/ interpretable range CS1>95% DOCK2 95.00 0 NM_004946.2/ interpretable range CS1>95% DOCK8 95.00 0 NM_203447.3/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% EFL1 95.00 0 NM_024580.5/ interpretable range CS1>95% ELANE 95.00 0 NM_001972.3/ interpretable range CS1>95% ELF4 95.00 0 NM_001421.3/ interpretable range CS1>95% EPG5 95.00 0 NM_020964.2/ interpretable range CS1>95% ERBIN 95.00 0 NM_001253697.1/ interpretable range CS1>95% EXTL3 95.00 0 NM_001440.3/ interpretable range CS1>95% FADD 95.00 0 NM_003824.3/ interpretable range CS1>95% FAS 95.00 0 NM_000043.5/ interpretable range CS1>95% FASLG 95.00 0 NM_000639.2/ interpretable range CS1>95% FAT4 95.00 0 NM_024582.4/ interpretable range CS1>95% FCGR3A 95.00 0 NM_000569.7/ interpretable range CS1>95% FCHO1 95.00 0 NM_015122.2/ interpretable range CS1>95% FCN3 95.00 0 NM_003665.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.4/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FNIP1 95.00 0 NM_133372.2/ interpretable range CS1>95% FOXN1 95.00 0 NM_003593.2/ interpretable range CS1>95% FOXP3 95.00 0 NM_014009.3/ interpretable range CS1>95% G6PC3 95.00 0 NM_138387.3/ interpretable range CS1>95% G6PD 95.00 0 NM_001042351.2/ interpretable range CS1>95% GATA2 95.00 1 NM_032638.4/ interpretable range CS1>95% GFI1 95.00 0 NM_005263.4/ interpretable range CS1>95% GIMAP5 95.00 0 NM_018384.4/ interpretable range CS1>95% GIMAP6 95.00 0 NM_001244072.1/ interpretable range CS1>95% GINS1 95.00 0 NM_021067.4/ interpretable range CS1>95% GUCY2C 95.00 0 NM_004963.3/ interpretable range CS1>95% HAVCR2 95.00 0 NM_032782.4/ interpretable range CS1>95% HAX1 95.00 0 NM_006118.3/ interpretable range CS1>95% HCK 95.00 0 NM_002110.3/ interpretable range CS1>95% HELLS 95.00 0 NM_018063.4/ interpretable range CS1>95% HTRA2 95.00 0 NM_013247.4/ interpretable range CS1>95% HYOU1 95.00 0 NM_006389.4/ interpretable range CS1>95% ICOS 95.00 0 NM_012092.3/ interpretable range CS1>95% IFIH1 95.00 0 NM_022168.3/ interpretable range CS1>95% IFNAR1 95.00 0 NM_000629.2/ interpretable range CS1>95% IFNAR2 95.00 0 NM_207585.2/ interpretable range CS1>95% IFNG 95.00 0 NM_000619.2/ interpretable range CS1>95% IFNGR1 95.00 0 NM_000416.2/ interpretable range CS1>95% IFNGR2 95.00 0 NM_005534.3/ interpretable range CS1>95% IGLL1 95.00 0 NM_020070.3/ interpretable range CS1>95% IKBKB 95.00 0 NM_001556.2/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.2/ interpretable range CS1>95% IKZF1 95.00 0 NM_006060.6/ interpretable range CS1>95% IKZF2 95.00 0 NM_001079526.1/ interpretable range CS1>95% IKZF3 95.00 0 NM_012481.4/ interpretable range CS1>95% IL10 95.00 0 NM_000572.2/ interpretable range CS1>95% IL10RA 95.00 0 NM_001558.3/ interpretable range CS1>95% IL10RB 95.00 0 NM_000628.4/ interpretable range CS1>95% IL12B 95.00 0 NM_002187.2/ interpretable range CS1>95% IL12RB1 95.00 0 NM_005535.2/ interpretable range CS1>95% IL12RB2 95.00 0 NM_001559.2/ interpretable range CS1>95% IL17F 95.00 0 NM_052872.3/ interpretable range CS1>95% IL17RA 95.00 0 NM_014339.6/ interpretable range CS1>95% IL17RC 95.00 0 NM_153461.3/ interpretable range CS1>95% IL18BP 95.00 0 NM_173042.2/ interpretable range CS1>95% IL1RN 95.00 0 NM_173841.2/ interpretable range CS1>95% IL21 95.00 0 NM_021803.3/ interpretable range CS1>95% IL21R 95.00 0 NM_021798.3/ interpretable range CS1>95% IL23R 95.00 0 NM_144701.2/ interpretable range CS1>95% IL2RA 95.00 0 NM_000417.2/ interpretable range CS1>95% IL2RB 95.00 0 NM_000878.4/ interpretable range CS1>95% IL2RG 95.00 0 NM_000206.2/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% IL37 95.00 0 NM_014439.3/ interpretable range CS1>95% IL6R 95.00 0 NM_000565.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.3/ interpretable range CS1>95% IL7 95.00 0 NM_000880.3/ interpretable range CS1>95% IL7R 95.00 0 NM_002185.4/ interpretable range CS1>95% INO80 95.00 0 NM_017553.2/ interpretable range CS1>95% IRAK1 95.00 0 NM_001569.3/ interpretable range CS1>95% IRAK4 95.00 0 NM_016123.3/ interpretable range CS1>95% IRF2BP2 95.00 0 NM_182972.2/ interpretable range CS1>95% IRF3 95.00 0 NM_001571.5/ interpretable range CS1>95% IRF4 95.00 0 NM_002460.3/ interpretable range CS1>95% IRF7 95.00 0 NM_004031.2/ interpretable range CS1>95% IRF8 95.00 0 NM_002163.2/ interpretable range CS1>95% IRF9 95.00 0 NM_006084.4/ interpretable range CS1>95% ISG15 95.00 0 NM_005101.3/ interpretable range CS1>95% ITCH 95.00 0 NM_031483.6/ interpretable range CS1>95% ITGB2 95.00 0 NM_000211.4/ interpretable range CS1>95% ITK 95.00 0 NM_005546.3/ interpretable range CS1>95% ITPKB 95.00 0 NM_002221.3/ interpretable range CS1>95% ITPKC 95.00 0 NM_025194.2/ interpretable range CS1>95% ITPR3 95.00 0 NM_002224.3/ interpretable range CS1>95% JAGN1 95.00 0 NM_032492.3/ interpretable range CS1>95% JAK1 95.00 0 NM_002227.3/ interpretable range CS1>95% JAK3 95.00 0 NM_000215.3/ interpretable range CS1>95% KARS1 95.00 0 NM_001130089.1/ interpretable range CS1>95% KMT2A 95.00 0 NM_001197104.1/ interpretable range CS1>95% KMT2D 95.00 0 NM_003482.3/ interpretable range CS1>95% KPNA2 95.00 0 NM_001320611.1/ interpretable range CS1>95% KRAS 95.00 0 NM_004985.4/ interpretable range CS1>95% LACC1 95.00 0 NM_001128303.2/ interpretable range CS1>95% LAMTOR2 95.00 0 NM_014017.3/ interpretable range CS1>95% LAT 95.00 0 NM_001014987.1/ interpretable range CS1>95% LCK 95.00 0 NM_001042771.2/ interpretable range CS1>95% LCP2 95.00 0 NM_005565.4/ interpretable range CS1>95% LIG1 95.00 0 NM_000234.2/ interpretable range CS1>95% LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95% LPIN2 95.00 0 NM_014646.2/ interpretable range CS1>95% LRBA 95.00 0 NM_006726.4/ interpretable range CS1>95% LRRC32 95.00 0 NM_005512.2/ interpretable range CS1>95% LRRC8A 95.00 0 NM_019594.3/ interpretable range CS1>95% LSM11 95.00 0 NM_173491.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MALT1 95.00 0 NM_006785.3/ interpretable range CS1>95% MAN2B2 95.00 0 NM_015274.2/ interpretable range CS1>95% MAP1LC3B2 95.00 0 NM_001085481.2/ interpretable range CS1>95% MAP3K14 95.00 0 NM_003954.4/ interpretable range CS1>95% MAPK8 95.00 0 NM_139049.3/ interpretable range CS1>95% MASP2 95.00 0 NM_006610.3/ interpretable range CS1>95% MBL2 95.00 0 NM_000242.2/ interpretable range CS1>95% MCM10 95.00 0 NM_182751.2/ interpretable range CS1>95% MCM4 95.00 0 NM_005914.3/ interpretable range CS1>95% MEFV 95.00 0 NM_000243.2/ interpretable range CS1>95% MOGS 95.00 0 NM_020831.4/ interpretable range CS1>95% MPO 95.00 0 NM_006302.2/ interpretable range CS1>95% MRTFA 95.00 0 NM_000250.1/ interpretable range CS1>95% MS4A1 95.00 0 NM_152866.2/ interpretable range CS1>95% MSN 95.00 0 NM_002444.2/ interpretable range CS1>95% MTHFD1 95.00 0 NM_005956.3/ interpretable range CS1>95% MVK 95.00 0 NM_000431.3/ interpretable range CS1>95% MYD88 95.00 0 NM_002468.4/ interpretable range CS1>95% MYO5B 95.00 0 NM_001080467.2/ interpretable range CS1>95% MYSM1 95.00 0 NM_001085487.2/ interpretable range CS1>95% NBAS 95.00 0 NM_015909.3/ interpretable range CS1>95% NCF1 95.00 0 NM_000265.5/ interpretable range CS1>95% NCF2 95.00 0 NM_000433.3/ interpretable range CS1>95% NCF4 95.00 0 NM_013416.3/ interpretable range CS1>95% NCKAP1 95.00 0 NM_205842.2/ interpretable range CS1>95% NCKAP1L 95.00 0 NM_005337.4/ interpretable range CS1>95% NCSTN 95.00 0 NM_015331.2/ interpretable range CS1>95% NFAT5 95.00 0 NM_138714.3/ interpretable range CS1>95% NFE2L2 95.00 0 NM_006164.4/ interpretable range CS1>95% NFKB1 95.00 0 NM_003998.3/ interpretable range CS1>95% NFKB2 95.00 0 NM_001077494.3/ interpretable range CS1>95% NFKBIA 95.00 0 NM_020529.2/ interpretable range CS1>95% NHEJ1 95.00 0 NM_024782.2/ interpretable range CS1>95% NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95% NLRC4 95.00 0 NM_021209.4/ interpretable range CS1>95% NLRP1 95.00 0 NM_033004.3/ interpretable range CS1>95% NLRP12 95.00 0 NM_144687.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_004895.4/ interpretable range CS1>95% NOD2 95.00 0 NM_022162.2/ interpretable range CS1>95% NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95% NOS2 95.00 0 NM_000625.4/ interpretable range CS1>95% NRAS 95.00 0 NM_002524.4/ interpretable range CS1>95% NSMCE3 95.00 0 NM_138704.3/ interpretable range CS1>95% OAS1 95.00 0 NM_032790.3/ interpretable range CS1>95% ORAI1 95.00 0 NM_014028.3/ interpretable range CS1>95% OSTM1 95.00 0 NM_138348.5/ interpretable range CS1>95% OTULIN 95.00 0 NM_002582.3/ interpretable range CS1>95% PARN 95.00 0 NM_006192.4/ interpretable range CS1>95% PAX1 95.00 0 NM_005018.2/ interpretable range CS1>95% PDCD1 95.00 0 NM_000285.3/ interpretable range CS1>95% PEPD 95.00 0 NM_001199917.1/ interpretable range CS1>95% PGM3 95.00 0 NM_058004.3/ interpretable range CS1>95% PI4KA 95.00 0 NM_005026.4/ interpretable range CS1>95% PIK3CD 95.00 0 NM_002649.3/ interpretable range CS1>95% PIK3CG 95.00 0 NM_181523.2/ interpretable range CS1>95% PIK3R1 95.00 0 NM_002661.4/ interpretable range CS1>95% PLCG2 95.00 0 NM_014798.2/ interpretable range CS1>95% PLEKHM1 95.00 0 NM_000535.6/ interpretable range CS1>95% PMS2 95.00 0 NM_016937.3/ interpretable range CS1>95% PNP 95.00 0 NM_002691.3/ interpretable range CS1>95% POLA1 95.00 0 NM_006230.3/ interpretable range CS1>95% POLD1 95.00 0 NM_006231.3/ interpretable range CS1>95% POLD2 95.00 0 NM_002692.3/ interpretable range CS1>95% POLE 95.00 0 NM_007055.3/ interpretable range CS1>95% POLE2 95.00 0 NM_001303456.1/ interpretable range CS1>95% POLR3A 95.00 0 NM_001282526.1/ interpretable range CS1>95% POLR3C 95.00 0 NM_015932.5/ interpretable range CS1>95% POLR3E 95.00 0 NM_006235.2/ interpretable range CS1>95% POLR3F 95.00 0 NM_001083116.2/ interpretable range CS1>95% POMP 95.00 0 NM_015932.6/ interpretable range CS1>95% POU2AF1 95.00 0 NM_006254.3/ interpretable range CS1>95% PRF1 95.00 0 NM_006904.6/ interpretable range CS1>95% PRKCD 95.00 0 NM_172341.3/ interpretable range CS1>95% PRKDC 95.00 0 NM_002788.3/ interpretable range CS1>95% PSENEN 95.00 0 NM_002801.3/ interpretable range CS1>95% PSMA3 95.00 0 NM_002796.2/ interpretable range CS1>95% PSMB10 95.00 0 NM_148919.3/ interpretable range CS1>95% PSMB4 95.00 0 NM_002800.4/ interpretable range CS1>95% PSMB8 95.00 0 NM_147163.1/ interpretable range CS1>95% PSMB9 95.00 0 NM_003978.4/ interpretable range CS1>95% PSMG2 95.00 0 NM_000314.6/ interpretable range CS1>95% PSTPIP1 95.00 0 NM_002828.3/ interpretable range CS1>95% PTEN 95.00 0 NM_002838.4/ interpretable range CS1>95% PTPN2 95.00 0 NM_004580.4/ interpretable range CS1>95% PTPRC 95.00 0 NM_002872.4/ interpretable range CS1>95% RAB27A 95.00 0 NM_000448.2/ interpretable range CS1>95% RAC2 95.00 0 NM_000536.3/ interpretable range CS1>95% RAG1 95.00 0 NM_006267.4/ interpretable range CS1>95% RAG2 95.00 0 NM_005739.3/ interpretable range CS1>95% RANBP2 95.00 0 NM_031229.3/ interpretable range CS1>95% RASGRP1 95.00 0 NM_172071.3/ interpretable range CS1>95% RBCK1 95.00 0 NM_004260.3/ interpretable range CS1>95% RC3H1 95.00 0 NM_002908.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_021975.3/ interpretable range CS1>95% REL 95.00 0 NM_006509.3/ interpretable range CS1>95% RELA 95.00 0 NM_000449.3/ interpretable range CS1>95% RELB 95.00 0 NM_003721.3/ interpretable range CS1>95% RFX5 95.00 0 NM_000538.3/ interpretable range CS1>95% RFXANK 95.00 0 NM_001665.3/ interpretable range CS1>95% RFXAP 95.00 0 NM_004310.4/ interpretable range CS1>95% RHOG 95.00 0 NM_003804.5/ interpretable range CS1>95% RHOH 95.00 0 NM_006397.2/ interpretable range CS1>95% RIGI 95.00 0 NM_014314.4/ interpretable range CS1>95% RIPK1 95.00 0 NM_024570.3/ interpretable range CS1>95% RNASEH2A 95.00 0 NM_032193.3/ interpretable range CS1>95% RNASEH2B 95.00 0 NM_152617.3/ interpretable range CS1>95% RNASEH2C 95.00 0 NM_017999.4/ interpretable range CS1>95% RNF168 95.00 0 NM_005060.3/ interpretable range CS1>95% RNF31 95.00 0 NM_002945.4/ interpretable range CS1>95% RORC 95.00 0 NM_002295.5/ interpretable range CS1>95% RPA1 95.00 0 NM_002945.5/ interpretable range CS1>95% RPSA 95.00 0 NM_032957.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_017654.3/ interpretable range CS1>95% SAMD9 95.00 0 NM_152703.4/ interpretable range CS1>95% SAMD9L 95.00 0 NM_015474.3/ interpretable range CS1>95% SAMHD1 95.00 0 NM_018990.3/ interpretable range CS1>95% SASH3 95.00 0 NM_016038.3/ interpretable range CS1>95% SBDS 95.00 0 NM_013336.3/ interpretable range CS1>95% SEC61A1 95.00 0 NM_006378.3/ interpretable range CS1>95% SEMA4D 95.00 0 NM_000062.2/ interpretable range CS1>95% SERPING1 95.00 1 NM_002351.4/ interpretable range CS1>95% SH2D1A 95.00 0 NM_031892.2/ interpretable range CS1>95% SH3KBP1 95.00 0 NM_006929.4/ interpretable range CS1>95% SKIC2 95.00 0 NM_006929.5/ interpretable range CS1>95% SKIC3 95.00 0 NM_014639.4/ interpretable range CS1>95% SLC11A1 95.00 0 NM_018344.5/ interpretable range CS1>95% SLC29A3 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35C1 95.00 0 NM_001164277.1/ interpretable range CS1>95% SLC37A4 95.00 0 NM_006979.2/ interpretable range CS1>95% SLC39A7 95.00 0 NM_080669.5/ interpretable range CS1>95% SLC46A1 95.00 0 NM_001126106.2/ interpretable range CS1>95% SLC7A7 95.00 0 NM_014140.3/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_001098426.1/ interpretable range CS1>95% SMARCD2 95.00 0 NR_002967.1/ interpretable range CS1>95% SNORA31 95.00 0 NM_001199835.1/ interpretable range CS1>95% SNX10 95.00 0 NM_003745.1/ interpretable range CS1>95% SOCS1 95.00 0 NM_004509.3/ interpretable range CS1>95% SP110 95.00 0 NM_004509.5/ interpretable range CS1>95% SPI1 95.00 0 NM_001080547.1/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SPPL2A 95.00 0 NM_032802.3/ interpretable range CS1>95% SRP54 95.00 0 NM_003136.3/ interpretable range CS1>95% STAT1 95.00 0 NM_007315.3/ interpretable range CS1>95% STAT2 95.00 0 NM_005419.3/ interpretable range CS1>95% STAT3 95.00 0 NM_139276.2/ interpretable range CS1>95% STAT4 95.00 0 NM_003151.3/ interpretable range CS1>95% STAT5B 95.00 0 NM_012448.3/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STING1 95.00 0 NM_006282.4/ interpretable range CS1>95% STK4 95.00 0 NM_024928.4/ interpretable range CS1>95% STN1 95.00 0 NM_003764.3/ interpretable range CS1>95% STX11 95.00 0 NM_006949.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_007269.3/ interpretable range CS1>95% STXBP3 95.00 0 NM_003177.6/ interpretable range CS1>95% SYK 95.00 0 NM_000593.5/ interpretable range CS1>95% TAFAZZIN 95.00 0 NM_000116.5/ interpretable range CS1>95% TAP1 95.00 0 NM_001290043.1/ interpretable range CS1>95% TAP2 95.00 0 NM_003190.4/ interpretable range CS1>95% TAPBP 95.00 0 NM_000116.4/ interpretable range CS1>95% TBK1 95.00 0 NM_013254.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TBX21 95.00 0 NM_013351.1/ interpretable range CS1>95% TCF3 95.00 0 NM_003200.4/ interpretable range CS1>95% TCIRG1 95.00 0 NM_006019.3/ interpretable range CS1>95% TCN2 95.00 0 NM_000355.3/ interpretable range CS1>95% TERT 95.00 0 NM_198253.2/ interpretable range CS1>95% TET2 95.00 0 NM_001127208.2/ interpretable range CS1>95% TFRC 95.00 0 NM_003234.3/ interpretable range CS1>95% TGFB1 95.00 0 NM_000660.6/ interpretable range CS1>95% TGFBR1 95.00 0 NM_004612.3/ interpretable range CS1>95% TGFBR2 95.00 0 NM_003242.5/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TICAM1 95.00 0 NM_182919.3/ interpretable range CS1>95% TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95% TLR3 95.00 0 NM_003265.2/ interpretable range CS1>95% TLR7 95.00 0 NM_016562.3/ interpretable range CS1>95% TLR8 95.00 0 NM_138636.5/ interpretable range CS1>95% TMC6 95.00 0 NM_007267.7/ interpretable range CS1>95% TMC8 95.00 0 NM_152468.4/ interpretable range CS1>95% TNFAIP3 95.00 0 NM_198282.3/ interpretable range CS1>95% TNFRSF11A 95.00 0 NM_006290.3/ interpretable range CS1>95% TNFRSF13B 95.00 0 NM_003839.3/ interpretable range CS1>95% TNFRSF13C 95.00 0 NM_012452.2/ interpretable range CS1>95% TNFRSF1A 95.00 0 NM_052945.3/ interpretable range CS1>95% TNFRSF4 95.00 0 NM_001065.3/ interpretable range CS1>95% TNFRSF9 95.00 0 NM_003327.3/ interpretable range CS1>95% TNFSF11 95.00 0 NM_001561.5/ interpretable range CS1>95% TNFSF12 95.00 0 NM_003701.3/ interpretable range CS1>95% TNFSF13 95.00 0 NM_003809.2/ interpretable range CS1>95% TOP2B 95.00 0 NM_003808.3/ interpretable range CS1>95% TPP2 95.00 0 NM_001068.3/ interpretable range CS1>95% TRAF3 95.00 0 NM_003291.3/ interpretable range CS1>95% TRAF3IP2 95.00 0 NM_003300.3/ interpretable range CS1>95% TREX1 95.00 0 NM_147686.3/ interpretable range CS1>95% TRIM22 95.00 0 NM_033629.5/ interpretable range CS1>95% TRNT1 95.00 0 NM_006074.4/ interpretable range CS1>95% TTC7A 95.00 0 NM_014639.3/ interpretable range CS1>95% TYK2 95.00 0 NM_020458.3/ interpretable range CS1>95% UBA1 95.00 0 NM_003331.4/ interpretable range CS1>95% UNC13D 95.00 0 NM_003334.3/ interpretable range CS1>95% UNC93B1 95.00 0 NM_199242.2/ interpretable range CS1>95% UNG 95.00 0 NM_030930.3/ interpretable range CS1>95% USB1 95.00 0 NM_080911.2/ interpretable range CS1>95% USP18 95.00 0 NM_024598.3/ interpretable range CS1>95% VPS13B 95.00 0 NM_017414.3/ interpretable range CS1>95% VPS45 95.00 0 NM_017890.4/ interpretable range CS1>95% WAS 95.00 0 NM_007259.5/ interpretable range CS1>95% WDR1 95.00 0 NM_000377.2/ interpretable range CS1>95% WIPF1 95.00 0 NM_017491.4/ interpretable range CS1>95% WRAP53 95.00 0 NM_001077269.1/ interpretable range CS1>95% XIAP 95.00 1 NM_001167.3/ interpretable range CS1>95% ZAP70 95.00 0 NM_001079.3/ interpretable range CS1>95% ZBTB24 95.00 0 NM_014797.2/ interpretable range CS1>95% ZNF341 95.00 0 NM_032819.4/ interpretable range CS1>95% ZNFX1 95.00 0 NM_021035.2/ interpretable range CS1>95% -
Primary immune deficiencies - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 100.00 1 ACP5 100.00 1 ACTB 100.00 1 ADA 99.97 1 ADA2 100.00 1 ADAM17 99.94 1 ADAR 99.84 1 AICDA 99.94 1 AIRE 99.95 1 AK2 99.39 1 ALPI 100.00 1 AP1S3 100.00 1 AP3B1 99.89 1 AP3D1 100.00 1 APOL1 99.99 1 ARHGEF1 99.97 1 ARPC1B 99.92 1 ATG16L1 99.95 1 ATG4A 99.86 1 ATM 99.83 1 ATP2A2 99.98 1 ATP6AP1 100.00 1 B2M 100.00 1 BACH2 99.99 1 BCL10 99.74 1 BCL11B 100.00 1 BLK 99.98 1 BLM 99.80 1 BLNK 99.90 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BTK 99.88 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C1R 99.99 1 C1S 99.98 1 C2 99.99 1 C2orf69 99.97 1 C3 100.00 1 C4A 21.28 1 C4BPA 99.95 1 C5 99.92 1 C6 99.97 1 C7 99.94 1 C8A 99.95 1 C8B 99.37 1 C8G 99.99 1 C9 99.89 1 CARD11 99.97 1 CARD14 99.99 1 CARD9 100.00 1 CARMIL2 99.99 1 CASP10 99.85 1 CASP8 99.92 1 CBL 99.95 1 CCBE1 99.52 1 CCDC28B 99.99 1 CD19 99.98 1 CD247 99.79 1 CD27 99.95 1 CD3D 100.00 1 CD3E 100.00 1 CD3G 100.00 1 CD4 100.00 1 CD40 100.00 1 CD40LG 99.88 1 CD46 99.86 1 CD55 74.12 1 CD59 100.00 1 CD70 99.99 1 CD79A 99.97 1 CD79B 99.93 1 CD81 99.97 1 CD8A 99.97 1 CDC42 98.05 1 CDCA7 99.88 1 CEBPE 100.00 1 CFB 99.97 1 CFD 99.99 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CFP 99.96 1 CFTR 99.45 1 CHD7 99.99 1 CIB1 99.92 1 CIITA 99.99 1 CLCN7 99.99 1 CLEC7A 99.98 1 CLPB 99.97 1 COL7A1 99.99 1 COPA 99.61 1 CORO1A 91.71 1 CPT2 99.65 1 CR2 99.97 1 CREBBP 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CSF3R 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 CTPS1 98.63 1 CTSC 99.97 1 CXCR4 99.98 1 CYBA 99.96 1 CYBB 99.87 1 CYBC1 100.00 1 DBR1 99.92 1 DCLRE1B 99.91 1 DCLRE1C 99.79 1 RIGI 99.84 1 DEF6 100.00 1 DGKE 99.10 1 DHFR 98.89 1 DKC1 99.59 1 DNAJC21 99.67 1 DNASE1 100.00 1 DNASE1L3 99.90 1 DNASE2 100.00 1 DNMT3B 99.98 1 DOCK2 100.00 1 DOCK8 99.86 1 DOK3 99.95 1 DTNBP1 99.89 1 EFL1 99.83 1 ELANE 100.00 1 ELF4 99.97 1 EPG5 99.95 1 ERBIN 99.69 1 ERCC6L2 99.94 1 EXTL3 99.99 1 F12 99.99 1 FAAP24 99.95 1 FADD 99.97 1 FAS 99.99 1 FASLG 99.84 1 FAT4 99.98 1 FCGR2B 70.97 1 FCGR3A 99.93 1 FCGR3B 95.51 1 FCHO1 99.99 1 FCN3 99.48 1 FERMT1 99.90 1 FERMT3 99.99 1 FNIP1 99.87 1 FOXN1 99.97 1 FOXP3 99.93 1 FPR1 100.00 1 G6PC3 99.98 1 G6PD 99.97 1 GATA1 99.97 1 GATA2 99.99 1 GFI1 99.88 1 GIMAP5 100.00 1 GINS1 99.99 1 GUCY2C 99.90 1 HAVCR2 99.93 1 HAX1 100.00 1 HELLS 99.78 1 HMOX1 99.95 1 HPS1 100.00 1 HPS4 99.98 1 HPS6 100.00 1 HTRA2 99.99 1 HYOU1 99.97 1 ICOS 99.95 1 ICOSLG 5.95 1 IFIH1 99.84 1 IFNAR1 99.75 1 IFNAR2 89.62 1 IFNG 99.50 1 IFNGR1 99.87 1 IFNGR2 99.95 1 IGHM 100.00 1 IGKC 99.99 1 IGLL1 100.00 1 IKBKB 99.93 1 IKBKG 57.34 1 IKZF1 99.92 1 IL10 100.00 1 IL10RA 99.99 1 IL10RB 99.99 1 IL12B 99.98 1 IL12RB1 94.11 1 IL12RB2 97.66 1 IL15RA 99.96 1 IL17F 99.99 1 IL17RA 100.00 1 IL17RC 100.00 1 IL18 99.85 1 IL18BP 99.99 1 IL1RL1 99.76 1 IL1RN 99.64 1 IL21 99.95 1 IL21R 99.70 1 IL23R 97.64 1 IL2RA 99.99 1 IL2RB 100.00 1 IL2RG 99.86 1 IL36RN 100.00 1 IL6R 92.46 1 IL6ST 99.88 1 IL7R 99.99 1 ILRUN 100.00 1 INO80 99.96 1 IRAK1 99.98 1 IRAK4 98.85 1 IRF2BP2 100.00 1 IRF3 99.96 1 IRF4 99.99 1 IRF7 100.00 1 IRF8 99.99 1 IRF9 100.00 1 ISG15 100.00 1 ITCH 95.57 1 ITGB2 100.00 1 ITK 99.91 1 ITPKB 99.99 1 IVNS1ABP 99.24 1 JAGN1 100.00 1 JAK1 99.32 1 JAK3 99.99 1 KDM6A 99.74 1 KMT2A 99.97 1 KMT2D 99.98 1 KRAS 99.13 1 LACC1 99.99 1 LAMTOR2 99.92 1 LAT 99.85 1 LCK 99.56 1 LCP2 99.58 1 LIG1 99.93 1 LIG4 100.00 1 LIPA 99.96 1 LPIN2 100.00 1 LRBA 99.76 1 LRRC8A 100.00 1 LSM11 100.00 1 LYST 99.87 1 MAGT1 99.54 1 MALT1 99.71 1 MAN2B1 99.99 1 MAP1LC3B2 100.00 1 MAP3K14 99.98 1 MAPK8 99.64 1 MASP1 99.99 1 MASP2 99.95 1 MBL2 99.93 1 MCM10 99.99 1 MCM4 99.96 1 MEFV 100.00 1 MOGS 100.00 1 MPEG1 100.00 1 MPO 99.97 1 MRE11 99.93 1 MRTFA 92.99 1 MS4A1 99.60 1 MSH6 99.97 1 MSN 99.98 1 MTHFD1 100.00 1 MVK 99.97 1 MYD88 99.99 1 MYO5B 100.00 1 MYSM1 94.16 1 NBAS 99.86 1 NBN 99.93 1 NCF1 57.22 1 NCF2 99.85 1 NCF4 100.00 1 NCKAP1L 99.77 1 NCSTN 99.82 1 NFAT5 99.93 1 NFE2L2 99.97 1 NFKB1 99.80 1 NFKB2 99.98 1 NFKBIA 99.99 1 NHEJ1 99.91 1 NHP2 99.96 1 NKX2-5 99.75 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NLRP7 99.99 1 NOD2 99.98 1 NOP10 99.99 1 NOS2 96.11 1 NPC1 99.99 1 NRAS 99.66 1 NSMCE3 100.00 1 OAS1 99.96 1 ORAI1 99.63 1 OSTM1 99.56 1 OTULIN 99.95 1 PARN 99.75 1 PAX1 100.00 1 PCCA 99.90 1 PCCB 99.97 1 PEPD 99.98 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 PLCG2 99.99 1 PLEKHM1 99.77 1 PLG 99.89 1 PMS2 70.47 1 PNP 100.00 1 POLA1 99.57 1 POLD1 99.96 1 POLD2 99.95 1 POLE 99.99 1 POLE2 99.87 1 POLR3A 99.97 1 POLR3C 99.89 1 POLR3F 99.97 1 NT5C3A 99.95 1 PRF1 100.00 1 PRIM1 99.07 1 PRKCD 99.96 1 PRKDC 99.93 1 PSEN1 100.00 1 PSENEN 100.00 1 PSMA3 99.96 1 PSMB10 99.98 1 PSMB4 99.83 1 PSMB8 99.96 1 PSMB9 99.68 1 PSMG2 99.98 1 PSTPIP1 99.91 1 PSTPIP2 99.98 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN2 99.98 1 PTPN6 100.00 1 PTPRC 93.90 1 RAB27A 99.94 1 RAC2 99.99 1 RAG1 100.00 1 RAG2 100.00 1 RANBP2 99.37 1 RASGRP1 100.00 1 RBCK1 100.00 1 RC3H1 99.22 1 RECQL4 100.00 1 REL 96.99 1 RELA 99.99 1 RELB 99.97 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RHOH 99.99 1 RIPK1 99.93 1 RMRP 100.00 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF31 100.00 1 RORC 99.42 1 RPSA 0.00 1 RTEL1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SASH3 99.99 1 SBDS 99.93 1 SDHA 99.98 1 SEC61A1 99.99 1 SEMA3E 99.13 1 SERPING1 100.00 1 SGPL1 99.95 1 SH2D1A 98.98 1 SH3BP2 100.00 1 SH3KBP1 99.95 1 SKIC2 99.98 1 SLC11A1 99.99 1 SLC29A3 99.98 1 SLC35C1 100.00 1 SLC37A4 99.90 1 SLC39A7 100.00 1 SLC46A1 100.00 1 SLC7A7 99.99 1 SLC9A3 100.00 1 SMARCAL1 99.97 1 SMARCD2 99.99 1 SNX10 99.96 1 SOCS1 99.98 1 SOCS4 99.92 1 PMP22 99.99 1 SPI1 99.81 1 SPINK5 99.91 1 SPPL2A 99.88 1 SRP54 99.83 1 SRP72 99.91 1 STAT1 99.83 1 STAT2 99.89 1 STAT3 99.97 1 STAT4 99.77 1 STAT5B 99.50 1 STAT6 99.87 1 STIM1 99.99 1 STING1 99.87 1 STK4 99.91 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 STXBP3 85.74 1 SYK 99.96 1 TAFAZZIN 99.98 1 TAP1 99.97 1 TAP2 99.94 1 TAPBP 99.98 1 TBK1 99.07 1 TBX1 99.95 1 TBX21 99.99 1 TCF3 100.00 1 TCIRG1 99.99 1 TCN2 100.00 1 TERC 98.59 1 TERT 100.00 1 TET2 99.99 1 TFRC 99.87 1 TGFB1 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THBD 100.00 1 TICAM1 99.99 1 TINF2 100.00 1 TIRAP 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TLR7 99.98 1 TMC6 100.00 1 TMC8 99.92 1 TNFAIP3 99.94 1 TNFRSF11A 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFRSF1A 100.00 1 TNFRSF4 100.00 1 TNFRSF9 99.99 1 TNFSF11 99.89 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TOP2B 99.72 1 TPP2 99.89 1 TRAC 100.00 1 TRAF3 99.97 1 TRAF3IP2 100.00 1 TREX1 100.00 1 TRIM22 100.00 1 TRNT1 99.97 1 SKIC3 99.82 1 TTC7A 99.77 1 TYK2 99.99 1 UBA1 99.93 1 UNC119 100.00 1 UNC13D 100.00 1 UNC93B1 99.75 1 UNG 100.00 1 USB1 89.62 1 USP18 93.05 1 VAV1 99.99 1 VPS13B 99.90 1 VPS45 93.94 1 WAS 99.90 1 WDR1 99.99 1 WIPF1 99.87 1 WRAP53 100.00 1 XBP1 99.99 1 XIAP 99.36 1 ZAP70 99.95 1 ZBTB24 99.99 1 ZNF341 100.00 1 ZNFX1 99.99 1 -
Respiratory Disorders panel (137 genes) - Ugent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 99.96 1 ABCC8 99.98 1 ACVRL1 99.88 1 AP3B1 99.89 1 AQP1 99.99 1 ARHGEF1 99.97 1 ASAH1 99.90 1 ASCL1 99.82 1 ATP13A3 99.84 1 ATP6AP1 100.00 1 BDNF 100.00 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMP10 99.96 1 BMPR1B 99.61 1 BMPR2 99.95 1 CARD11 99.97 1 CAV1 99.97 1 CCDC39 99.74 1 CCDC40 100.00 1 CD19 99.98 1 CD81 99.97 1 CIITA 99.99 1 CLEC1A 99.97 1 CLEC7A 99.98 1 COPA 99.61 1 CR2 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 DKC1 99.59 1 DNAAF1 99.99 1 DNAAF2 99.91 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAH9 99.79 1 DOCK8 99.86 1 DTNBP1 99.89 1 EFEMP2 99.94 1 EIF2AK4 99.97 1 ELMOD2 99.80 1 ELN 99.86 1 ENG 100.00 1 ERBIN 99.69 1 FAM111B 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBLN5 100.00 1 FLNA 99.99 1 FNIP1 99.87 1 FOXF1 99.99 1 FOXP3 99.93 1 GARS1 99.93 1 GATA2 99.99 1 GBA1 96.92 1 GDF2 100.00 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 IKZF1 99.92 1 IL6R 92.46 1 IL6ST 99.88 1 IRF2BP2 100.00 1 ITCH 95.57 1 ITGA3 99.86 1 KCNA5 100.00 1 KCNK3 100.00 1 KDR 99.86 1 LRBA 99.76 1 LTBP4 99.99 1 MARS1 99.97 1 MOGS 100.00 1 MS4A1 99.60 1 MUC5B 99.94 1 NFKB1 99.80 1 NFKB2 99.98 1 NKX2-1 100.00 1 NME8 99.83 1 NOD2 99.98 1 NOTCH3 99.99 1 NSMCE3 100.00 1 OAS1 99.96 1 PARN 99.75 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 POU2AF1 99.43 1 PTEN 99.89 1 RAC2 99.99 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RGPD4 71.96 1 RSPH4A 99.95 1 RSPH9 99.99 1 RTEL1 100.00 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SEC61A1 99.99 1 SERPINA1 100.00 1 SFTPA1 99.99 1 SFTPA2 99.81 1 SFTPB 99.99 1 SFTPC 99.99 1 SFTPD 99.62 1 SH3KBP1 99.95 1 SLC34A2 99.99 1 SLC7A7 99.99 1 SMAD4 99.97 1 SMAD9 99.99 1 SMPD1 100.00 1 SOX17 100.00 1 SPINK5 99.91 1 STAT3 99.97 1 STAT5B 99.50 1 STING1 99.87 1 TBX4 99.96 1 TERC 98.59 1 TERT 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TINF2 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TRNT1 99.97 1 TSC1 99.99 1 TSC2 99.98 1 ZNF341 100.00 1