Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A 		charged multivesicular body protein 1A 0.695 0.500 2.9E-04
CUI: C3554209
Disease: Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 8 		disease 0.700 None 1.000 0 2 2012 2012
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A 		charged multivesicular body protein 1A 0.695 0.500 2.9E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 3 1 2001 2012
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A 		charged multivesicular body protein 1A 0.695 0.500 2.9E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 3 1 2001 2012
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A 		charged multivesicular body protein 1A 0.695 0.500 2.9E-04
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		disease 0.100 None 0 1