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: 10059
Gene Symbol: DNM1L
DNM1L 		O00429 dynamin 1 like Enzyme modulator 11 0.475 0.808 5.7E-04 0.100 None 1.000 2 1 2016 2016
Entrez Id: 51067
Gene Symbol: YARS2
YARS2 		Q9Y2Z4 tyrosyl-tRNA synthetase 2 Enzyme 13 0.663 0.462 3.0E-11 0.100 None 1.000 2 1 2016 2016
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: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		O14773 tripeptidyl peptidase 1 Enzyme 27 0.551 0.808 6.3E-07 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