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: 112939
Gene Symbol: NACC1
NACC1 		Q96RE7 nucleus accumbens associated 1 34 0.610 0.577 1.00 0.100 None 0 1
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 24 0.650 0.423 6.3E-04 0.100 None 0 2
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		P30566 adenylosuccinate lyase Enzyme 5 0.631 0.654 8.9E-12 0.100 None 0 2
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 20 0.711 0.154 0.99 0.100 None 0 1
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		Q08209 protein phosphatase 3 catalytic subunit alpha 31 0.568 0.769 1.00 0.100 None 0 1