Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ERMAP Q96PL5 erythroblast membrane associated protein (Scianna blood group) Enzyme modulator 4.9E-10 2 2
KCND1 Q9NSA2 potassium voltage-gated channel subfamily D member 1 Ion channel 0.26 1 2
TTC1 Q99614 tetratricopeptide repeat domain 1 2.5E-06 1 1
WDR6 Q9NNW5 WD repeat domain 6 2.1E-09 1 1
H2AP O75409 H2A.P histone Nucleic acid binding 1 1
SPDL1 Q96EA4 spindle apparatus coiled-coil protein 1 8.6E-17 1 1
ZNF446 Q9NWS9 zinc finger protein 446 5.7E-08 1 1
CEP76 Q8TAP6 centrosomal protein 76 4.5E-09 1 1
MVB12A Q96EY5 multivesicular body subunit 12A 8.0E-06 1 1
CLHC1 Q8NHS4 clathrin heavy chain linker domain containing 1 Transporter 5.6E-21 1 1
TTC14 Q96N46 tetratricopeptide repeat domain 14 1.2E-09 1 4
ITIH6 Q6UXX5 inter-alpha-trypsin inhibitor heavy chain family member 6 1.5E-24 1 1
HEATR4 Q86WZ0 HEAT repeat containing 4 1.4E-29 1 1
H2BC18 Q5QNW6 H2B clustered histone 18 4.6E-03 1 1
DPRX A6NFQ7 divergent-paired related homeobox 2.4E-06 1 1
DNAH8-AS1 DNAH8 antisense RNA 1 1 6
PLCG1-AS1 PLCG1 antisense RNA 1 1 1
TNF P01375 tumor necrosis factor Signaling 0.80 0.231 0.962 1 2
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923 1 1
IL1B P01584 interleukin 1 beta 0.13 0.276 0.962 1 1
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923 1 1
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962 3 14
IFNG P01579 interferon gamma 0.47 0.288 0.962 2 1