Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PHC1 P78364 polyhomeotic homolog 1 Nucleic acid binding 1.00 0.644 0.692 3 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
PCDHB4 Q9Y5E5 protocadherin beta 4 7.0E-12 0.931 0.077 3 1
CHAF1B Q13112 chromatin assembly factor 1 subunit B Nucleic acid binding 0.43 0.663 0.538 3 1
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577 4 8
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769 4 6
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423 4 5
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538 4 4
ATP6V1B2 P21281 ATPase H+ transporting V1 subunit B2 Transporter 0.99 0.606 0.577 4 3
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308 4 3
TRPM3 Q9HCF6 transient receptor potential cation channel subfamily M member 3 Ion channel 5.7E-07 0.663 0.769 4 2
MTSS2 Q765P7 MTSS I-BAR domain containing 2 Cellular structure 0.98 0.839 0.231 4 1
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885 5 90
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269 5 62
FBXL3 Q9UKT7 F-box and leucine rich repeat protein 3 0.98 0.736 0.462 5 62
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923 5 32
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192 5 20
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731 5 17
EP300-AS1 EP300 antisense RNA 1 0.839 0.231 5 12
HERC1 Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 1.00 0.674 0.500 5 4
KCNK4 Q9NYG8 potassium two pore domain channel subfamily K member 4 Ion channel 5.7E-03 0.743 0.385 5 2
TENM3 Q9P273 teneurin transmembrane protein 3 1.00 0.599 0.692 5 2
CDK20 Q8IZL9 cyclin dependent kinase 20 Kinase 5.9E-14 0.682 0.462 6 2