Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CEP97 Q8IW35 centrosomal protein 97 2.0E-11 1.000 2 1
SCAMP4 Q969E2 secretory carrier membrane protein 4 Enzyme 4.6E-03 0.931 0.077 3 2
PCDHB4 Q9Y5E5 protocadherin beta 4 7.0E-12 0.931 0.077 3 1
ST20-MTHFS ST20-MTHFS readthrough 7.6E-03 0.805 0.115 15 2
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115 3 9
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192 5 20
ZNF526 Q8TF50 zinc finger protein 526 0.52 0.890 0.192 2 1
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231 11 1
WDR37 Q9Y2I8 WD repeat domain 37 0.57 0.751 0.231 8 1
STX7 O15400 syntaxin 7 Transporter 5.0E-06 0.821 0.231 7 1
EP300-AS1 EP300 antisense RNA 1 0.839 0.231 5 12
MTSS2 Q765P7 MTSS I-BAR domain containing 2 Cellular structure 0.98 0.839 0.231 4 1
FAM177A1 Q8N128 family with sequence similarity 177 member A1 Enzyme 1.2E-03 0.769 0.231 3 1
CINP Q9BW66 cyclin dependent kinase 2 interacting protein 5.7E-02 0.821 0.231 3 1
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269 5 62
MED12L Q86YW9 mediator complex subunit 12L Transcription factor 1.00 0.839 0.269 3 8
ZNF407 Q9C0G0 zinc finger protein 407 Transcription factor 1.00 0.792 0.269 2 1
PIGX Q8TBF5 phosphatidylinositol glycan anchor biosynthesis class X 2.4E-05 0.780 0.308 7 2
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308 7 1
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308 4 3
ASH2L Q9UBL3 ASH2 like, histone lysine methyltransferase complex subunit Nucleic acid binding 1.00 0.743 0.308 2 1
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346 11 1