GMNN, geminin DNA replication inhibitor, 51053

N. diseases: 153; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0023787
Disease:
Lipodystrophy 		G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0038379
Disease:
Strabismus 		G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309486
rs864309486
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6 		0.800 GeneticVariation UNIPROT
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6 		G 0.800 CausalMutation CLINVAR