Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
O15041 semaphorin 3E Signaling 184 0.515 0.769 8.7E-09 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
O15160 RNA polymerase I and III subunit C Enzyme 86 0.595 0.615 6.3E-10 0.100 None 0 0
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
O15239 NADH:ubiquinone oxidoreductase subunit A1 74 0.636 0.423 0.55 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
O15287 FA complementation group G 132 0.556 0.769 2.5E-14 0.100 None 0 0
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 0 0
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
O15303 glutamate metabotropic receptor 6 G-protein coupled receptor 28 0.700 0.308 4.5E-17 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
O15360 FA complementation group A 211 0.505 0.731 1.6E-68 0.100 None 0 0
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
O15550 lysine demethylase 6A Epigenetic regulator 238 0.498 0.769 1.00 0.100 None 0 0
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
O43181 NADH:ubiquinone oxidoreductase subunit S4 137 0.587 0.808 3.1E-04 0.100 None 0 0
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 273 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
O43427 FGF1 intracellular binding protein 39 0.674 0.538 4.4E-06 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
O43502 RAD51 paralog C 162 0.533 0.692 6.2E-14 0.100 None 0 0
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
O43543 X-ray repair cross complementing 2 187 0.512 0.731 4.0E-07 0.100 None 0 0
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
O43676 NADH:ubiquinone oxidoreductase subunit B3 51 0.705 0.538 1.6E-05 0.100 None 0 0
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
O43678 NADH:ubiquinone oxidoreductase subunit A2 Enzyme 72 0.617 0.577 0.77 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556
O60303 KIAA0556 60 0.644 0.538 1.2E-29 0.100 None 0 0