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: 2022
Gene Symbol: ENG
ENG 		P17813 endoglin 35 0.446 0.846 1.00 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: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
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: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 39 0.587 0.692 2.5E-58 0.100 None 0 2