1. Analytes
  2. APP

APP

Analyte Export to PDF
Name:
amyloid beta precursor protein
Symbol:
APP
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
alpha-sAPP
peptidase nexin-II
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Alzheimer erly-onset disease (3 genes) -KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APP 100.00 1
    PSEN1 100.00 1
    PSEN2 100.00 1
  • Dementia, young onset (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOE 100.00 1
    APP 100.00 1
    CHCHD10 100.00 1
    CHMP2B 100.00 1
    CSF1R 100.00 1
    FUS 100.00 1
    GRN 100.00 1
    HTRA1 95.00 1
    ITM2B 100.00 1
    MAPT 100.00 1
    NOTCH3 98.00 1
    OPTN 100.00 1
    PRNP 100.00 1
    PSEN1 100.00 1
    PSEN2 100.00 1
    TARDBP 100.00 1
    TBK1 100.00 1
    TREM2 100.00 1
    TYROBP 100.00 1
    UBQLN2 100.00 1
    VCP 100.00 1
  • Leukodystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 99.98 1
    ABAT 99.98 1
    ABCD1 99.98 1
    ACBD5 99.97 1
    ACER3 99.76 1
    ACOX1 99.98 1
    ACP5 100.00 1
    ACTL6B 99.90 1
    ADAR 99.84 1
    ADGRG1 99.90 1
    ADSL 99.93 1
    AGA 99.92 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    AIMP2 99.99 1
    ALDH3A2 99.95 1
    ALDH5A1 96.19 1
    APP 99.92 1
    ARSA 99.99 1
    ASAH1 99.90 1
    ASPA 99.98 1
    ATAD3A 99.62 1
    ATP7A 99.87 1
    ATP7B 100.00 1
    AUH 99.95 1
    B3GALNT2 92.79 1
    BCAP31 99.95 1
    BCS1L 99.99 1
    BOLA3 99.22 1
    BTD 100.00 1
    CBS 17.79 1
    CIC 98.32 1
    CLCN2 100.00 1
    CLN3 99.92 1
    CLN5 100.00 1
    CLN6 100.00 1
    CLN8 100.00 1
    CNP 99.98 1
    CNTNAP1 99.98 1
    COA8 99.94 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COX10 99.99 1
    COX15 100.00 1
    CYP21A2 99.91 1
    CSF1R 99.92 1
    CTC1 100.00 1
    CTSA 99.98 1
    CTSD 100.00 1
    CTSF 99.96 1
    CYP27A1 100.00 1
    DAG1 100.00 1
    DARS1 98.85 1
    DARS2 98.31 1
    DCAF17 99.84 1
    DDHD2 99.97 1
    DEGS1 99.99 1
    DGUOK 99.93 1
    DLAT 99.65 1
    DLD 99.89 1
    DMXL2 99.86 1
    DNAJC5 99.99 1
    EARS2 99.96 1
    ECHS1 100.00 1
    EIF2AK1 99.90 1
    EIF2AK2 99.70 1
    EIF2B1 99.98 1
    EIF2B2 99.90 1
    EIF2B3 97.26 1
    EIF2B4 99.96 1
    EIF2B5 99.98 1
    EPRS1 99.53 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    FA2H 99.98 1
    HYCC1 99.81 1
    FAR1 99.82 1
    FARS2 100.00 1
    FASTKD2 99.93 1
    FBXL4 100.00 1
    FDX2 99.99 1
    CFH 99.97 1
    FIG4 99.83 1
    FKTN 99.94 1
    FLVCR2 100.00 1
    FOLR1 100.00 1
    FUCA1 98.72 1
    GALC 99.92 1
    GALT 100.00 1
    GAN 99.98 1
    GBE1 99.73 1
    GFAP 99.99 1
    GFM1 99.95 1
    GFM2 99.87 1
    GJA1 100.00 1
    GJB1 100.00 1
    GJC2 100.00 1
    GLA 99.90 1
    GLB1 100.00 1
    GM2A 100.00 1
    GNAS 100.00 1
    GPHN 99.94 1
    GRN 100.00 1
    GTF2H5 100.00 1
    HEPACAM 100.00 1
    HEXA 99.99 1
    HEXB 99.91 1
    HIKESHI 99.78 1
    HLCS 99.97 1
    HMGCL 99.31 1
    HSD17B4 99.71 1
    HSPD1 83.42 1
    HTRA1 100.00 1
    IBA57 100.00 1
    IFIH1 99.84 1
    IKBKG 57.34 1
    ISCA2 100.00 1
    IVD 100.00 1
    JAM3 100.00 1
    KARS1 99.98 1
    L2HGDH 99.92 1
    LAMA2 99.95 1
    LARGE1 100.00 1
    LARS2 99.96 1
    LIPT1 99.89 1
    LIPT2 99.99 1
    LMNB1 99.73 1
    LYRM7 99.98 1
    MAN2B1 99.99 1
    MANBA 99.81 1
    MARS2 100.00 1
    MCOLN1 100.00 1
    MFSD8 99.70 1
    MLC1 99.99 1
    MMUT 99.68 1
    MOCS1 99.95 1
    MOCS2 99.96 1
    MPLKIP 99.99 1
    MPV17 99.98 1
    MRPS34 100.00 1
    MTFMT 99.98 1
    MTHFR 99.97 1
    MTO1 90.25 1
    NAXD 99.99 1
    NAXE 99.99 1
    NDUFA2 99.95 1
    NDUFA9 100.00 1
    NDUFAF1 100.00 1
    NDUFAF3 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NDUFS4 99.99 1
    NDUFS7 99.99 1
    NDUFS8 100.00 1
    NDUFV1 99.99 1
    NEU1 99.98 1
    NKX6-2 100.00 1
    NOTCH3 99.99 1
    NPC1 99.99 1
    NPC2 100.00 1
    NTNG2 99.98 1
    NUBPL 99.62 1
    OCLN 82.91 1
    OCRL 99.89 1
    PAH 99.96 1
    PARS2 99.99 1
    PCCA 99.90 1
    PCCB 99.97 1
    PDGFB 99.99 1
    PDGFRB 99.99 1
    PDHA1 99.04 1
    PDHB 99.94 1
    PDHX 99.64 1
    PDP1 100.00 1
    PEX1 98.80 1
    PEX10 100.00 1
    PEX11B 99.62 1
    PEX12 100.00 1
    PEX13 99.36 1
    PEX14 100.00 1
    PEX16 99.94 1
    PEX19 99.25 1
    PEX2 100.00 1
    PEX26 100.00 1
    PEX3 99.85 1
    PEX5 99.89 1
    PEX6 99.99 1
    PEX7 99.72 1
    PLEKHG2 99.99 1
    PLP1 99.98 1
    PLPBP 99.99 1
    PMPCB 99.94 1
    PNPT1 99.56 1
    POLG 100.00 1
    POLR1C 100.00 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    POLR3K 100.00 1
    POMGNT1 99.69 1
    POMT1 99.96 1
    POMT2 99.98 1
    PPT1 97.48 1
    PRF1 100.00 1
    PSAP 99.94 1
    PSAT1 99.98 1
    PSPH 99.09 1
    PYCR2 99.95 1
    QDPR 99.92 1
    RARS1 99.76 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNASET2 99.99 1
    SAMHD1 99.98 1
    SCP2 94.94 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SGO1 99.90 1
    SHANK3 98.45 1
    SLC13A3 99.98 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC20A2 99.95 1
    SLC25A12 99.72 1
    SLC44A1 99.90 1
    SLC7A2 99.97 1
    SNAP29 99.85 1
    SNORD118 100.00 1
    SOX10 100.00 1
    SPG11 99.89 1
    STN1 99.88 1
    STX11 100.00 1
    STXBP2 100.00 1
    SUCLA2 99.96 1
    SUMF1 99.95 1
    SUOX 100.00 1
    SURF1 100.00 1
    TACO1 100.00 1
    TMEM106B 99.92 1
    TMEM63A 99.91 1
    ACD 99.99 1
    TREM2 100.00 1
    TREX1 100.00 1
    TSEN54 100.00 1
    TTR 100.00 1
    TUBB4A 100.00 1
    TWNK 100.00 1
    TYMP 99.87 1
    TYROBP 99.95 1
    UBTF 99.99 1
    UFM1 99.25 1
    UNC13D 100.00 1
    VPS11 99.99 1
    WARS2 97.72 1
    WT1 99.99 1
    XPR1 99.13 1
    ZFYVE26 100.00 1
  • Neurodegeneration (99 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    APP 100.00 1 NM_000484.4
    ATP13A2 100.00 1 NM_022089.4
    CHMP2B 100.00 1 NM_014043.4
    DCTN1 100.00 1 NM_004082.4
    ERBB4 100.00 1 NM_005235.3
    FIG4 100.00 1 NM_014845.6
    FUS 100.00 1 NM_004960.4
    GBA1 100.00 1 NM_000157.4
    GRN 100.00 1 NM_002087.3
    KIF5A 100.00 1 NM_004984.4
    LRRK2 100.00 1 NM_198578.4
    MAPT 100.00 1 NM_001123066.3
    MATR3 100.00 1 NM_018834.6
    NEFH 100.00 1 NM_021076.4
    NEK1 100.00 1 NM_001199397.3
    NOTCH3 100.00 1 NM_000435.3
    OPTN 100.00 1 NM_001008212.2
    PARK7 100.00 1 NM_007262.5
    PFN1 100.00 1 NM_005022.4
    PINK1 100.00 1 NM_032409.3
    PRKN 100.00 1 NM_004562.3
    PRNP 100.00 1 NM_000311.5
    PRPH 100.00 1 NM_006262.4
    PSEN1 100.00 1 NM_000021.4
    PSEN2 100.00 1 NM_000447.3
    SETX 100.00 1 NM_015046.7
    SIGMAR1 100.00 1 NM_005866.4
    SNCA 100.00 1 NM_000345.4
    SOD1 100.00 1 NM_000454.5
    SPG11 100.00 1 NM_025137.4
    TARDBP 100.00 1 NM_007375.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    VCP 100.00 1 NM_007126.5
    AARS2 100.00 1 NM_020745.4
    ABAT 100.00 1 NM_020686.6
    ABCB7 100.00 1 NM_001271696.3
    ABCD1 100.00 1 NM_000033.4
    ADPRS 100.00 1 NM_017825.3
    AFG3L2 100.00 1 NM_006796.3
    AP5Z1 100.00 1 NM_014855.3
    APOE 100.00 1 NM_000041.4
    ARSA 100.00 1 NM_000487.6
    ATP1A3 100.00 1 NM_152296.5
    ATP6AP2 100.00 1 NM_005765.3
    C19ORF12 100.00 1 NM_031448.6
    C9ORF72 100.00 1 NM_018325.5
    CCNF 100.00 1 NM_001761.3
    CHCHD10 100.00 1 NM_213720.3
    CHCHD2 100.00 1 NM_016139.4
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLN8 100.00 1 NM_018941.4
    COA7 100.00 1 NM_023077.3
    COASY 100.00 1 NM_025233.7
    CRAT 100.00 1 NM_000755.5
    CSF1R 100.00 1 NM_005211.3
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    DNAJC13 100.00 1 NM_015268.4
    DNAJC5 100.00 1 NM_025219.3
    DNAJC6 100.00 1 NM_001256864.2
    EIF4G1 100.00 1 NM_198241.3
    FA2H 100.00 1 NM_024306.5
    FBXO7 100.00 1 NM_012179.4
    FTL 100.00 1 NM_000146.4
    FXN 100.00 1 NM_000144.5
    GCH1 100.00 1 NM_000161.3
    GIGYF2 100.00 1 NM_001103146.3
    GLUD2 100.00 1 NM_012084.4
    GRID2 100.00 1 NM_001510.4
    IREB2 100.00 1 NM_004136.4
    ITM2B 100.00 1 NM_021999.5
    KLC4 100.00 1 NM_201521.3
    MFSD8 100.00 1 NM_001371596.2
    NPC1 100.00 1 NM_000271.5
    NPC2 100.00 1 NM_006432.5
    PANK2 100.00 1 NM_153638.3
    PGAP1 100.00 1 NM_024989.4
    PLA2G6 100.00 1 NM_003560.4
    PODXL 94.00 1 NM_001018111.3
    POLG 100.00 1 NM_001126131.2
    PPT1 100.00 1 NM_000310.4
    RAB18 100.00 1 NM_021252.5
    REPS1 100.00 1 NM_001286611.1
    SLC6A3 100.00 1 NM_001044.5
    SPG21 100.00 1 NM_016630.7
    SQSTM1 100.00 1 NM_003900.5
    SYNJ1 100.00 1 NM_003895.3
    TBK1 100.00 1 NM_013254.4
    UBTF 100.00 1 NM_014233.4
    UCHL1 100.00 1 NM_004181.5
    VPS13C 100.00 1 NM_020821.3
    VPS35 100.00 1 NM_018206.6
    WDR45 100.00 1 NM_001029896.2
  • Stroke - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA1 99.92 1
    ABCC6 98.57 1
    ACAD9 100.00 1
    ACP5 100.00 1
    ACTA2 99.99 1
    ACVRL1 99.88 1
    ADA2 100.00 1
    APP 99.92 1
    ASS1 77.52 1
    ATP7A 99.87 1
    C1R 99.99 1
    CACNA1A 98.16 1
    CBS 17.79 1
    CCM2 99.93 1
    CD59 100.00 1
    COG6 99.86 1
    COL1A1 99.90 1
    COL3A1 99.87 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COL5A1 99.99 1
    COL5A2 99.86 1
    COQ8A 100.00 1
    CYP21A2 99.91 1
    CST3 100.00 1
    CTSA 99.98 1
    DYRK1B 99.99 1
    EFEMP2 99.94 1
    ENG 100.00 1
    ENPP1 99.88 1
    ESCO2 99.92 1
    F10 99.98 1
    F13A1 99.43 1
    F2 99.99 1
    F5 99.59 1
    F7 100.00 1
    F8A1 21.76 1
    FBN1 99.85 1
    FGA 99.98 1
    FGB 99.93 1
    FGG 99.98 1
    FOXC1 100.00 1
    GAA 100.00 1
    GATA3 99.96 1
    GCDH 100.00 1
    GGCX 99.88 1
    GLA 99.90 1
    GUCY1A1 99.99 1
    HBB 100.00 1
    HSD11B2 99.99 1
    HTRA1 100.00 1
    ITM2B 99.85 1
    IVD 100.00 1
    JAG1 100.00 1
    JAK2 99.52 1
    JAM3 100.00 1
    KNG1 99.99 1
    KRIT1 99.33 1
    LMNA 99.96 1
    MFAP5 99.96 1
    MFN2 99.98 1
    MMACHC 99.98 1
    MMUT 99.68 1
    MTHFR 99.97 1
    MYH11 99.16 1
    NF1 99.88 1
    NOTCH3 99.99 1
    OTC 99.42 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCNT 99.97 1
    PDCD10 99.94 1
    PDE3A 99.97 1
    PKD1 99.98 1
    PLG 99.89 1
    PLOD1 99.93 1
    PLOD3 99.89 1
    PROC 99.98 1
    PROS1 99.84 1
    PTPN11 99.98 1
    RASA1 99.05 1
    SAMHD1 99.98 1
    SERPINE1 99.90 1
    SLC19A2 98.86 1
    SLC2A10 100.00 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMARCAL1 99.97 1
    SPARC 99.94 1
    STAT1 99.83 1
    STIM1 99.99 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TREX1 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTR 100.00 1
    VHL 100.00 1
    YY1AP1 99.98 1