Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577 2 21
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654 2 14
WASF1 Q92558 WASP family member 1 Cellular structure 1.00 0.547 0.808 2 3
TRAPPC11 Q7Z392 trafficking protein particle complex 11 4.6E-10 0.650 0.500 2 2
ZNF526 Q8TF50 zinc finger protein 526 0.52 0.890 0.192 2 1
PACS2 Q86VP3 phosphofurin acidic cluster sorting protein 2 1.00 0.700 0.423 2 1
ZNF407 Q9C0G0 zinc finger protein 407 Transcription factor 1.00 0.792 0.269 2 1
CEP97 Q8IW35 centrosomal protein 97 2.0E-11 1.000 2 1
ASH2L Q9UBL3 ASH2 like, histone lysine methyltransferase complex subunit Nucleic acid binding 1.00 0.743 0.308 2 1
MYOCD Q8IZQ8 myocardin 0.33 0.619 0.615 2 1
ARHGAP4 P98171 Rho GTPase activating protein 4 Enzyme modulator 0.98 0.736 0.500 3 14
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692 3 14
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115 3 9
MED12L Q86YW9 mediator complex subunit 12L Transcription factor 1.00 0.839 0.269 3 8
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769 3 8
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615 3 8
NFIB O00712 nuclear factor I B Nucleic acid binding 1.00 0.573 0.654 3 7
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731 3 7
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731 3 5
SEC24D O94855 SEC24 homolog D, COPII coat complex component Transporter 1.3E-07 0.663 0.577 3 4
RAC3 P60763 Rac family small GTPase 3 Enzyme modulator 2.6E-03 0.682 0.423 3 3
SCAMP4 Q969E2 secretory carrier membrane protein 4 Enzyme 4.6E-03 0.931 0.077 3 2
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385 3 2
INO80 Q9ULG1 INO80 complex ATPase subunit 1.00 0.751 0.385 3 2