Source: CLINVAR ×
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: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 3 2016 2016
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS 		ST20-MTHFS readthrough 15 0.805 0.115 7.6E-03 0.100 None 0 2
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS 		P49914 methenyltetrahydrofolate synthetase Enzyme 15 0.678 0.500 2.6E-04 0.100 None 0 2
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		Q9UBY8 CLN8 transmembrane ER and ERGIC protein 9 0.682 0.423 3.6E-03 0.100 None 0 2
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7 		Q93009 ubiquitin specific peptidase 7 Enzyme 34 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1