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: 29781
Gene Symbol: NCAPH2
NCAPH2 		Q6IBW4 non-SMC condensin II complex subunit H2 5 0.805 0.385 2.9E-04 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		Q00872 myosin binding protein C1 18 0.666 0.462 4.8E-05 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 45 0.656 0.423 1.6E-08 0.100 None 0 3
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3 		Q9Y597 potassium channel tetramerization domain containing 3 3 0.931 0.115 0.10 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 25 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 6 0.479 0.846 7.5E-07 0.100 None 0 1