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: rs864309486
rs864309486
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4025406
Disease:
Abnormality of the middle phalanx of the 5th finger 		T 0.700 CausalMutation 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: C0857379
Disease:
Abnormality of the pinna 		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: C1840077
Disease:
Anteverted nostril 		T 0.700 CausalMutation 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: C1866190
Disease:
Atresia of the external auditory canal 		T 0.700 CausalMutation 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: C0152423
Disease:
Congenital small ears 		T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0152423
Disease:
Congenital small ears 		A 0.700 CausalMutation 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: C0541764
Disease:
Delayed bone age 		T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0541764
Disease:
Delayed bone age 		A 0.700 CausalMutation 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: C1836542
Disease:
Depressed nasal bridge 		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: C0423110
Disease:
Downward slant of palpebral fissure 		T 0.700 CausalMutation 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: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		A 0.700 CausalMutation 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: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		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: C0014390
Disease:
Entropion 		T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0221354
Disease:
Frontal bossing 		A 0.700 CausalMutation 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: C1328407
Disease:
Hip Dysplasia 		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: C4022715
Disease:
Hypoplastic female external genitalia 		T 0.700 CausalMutation 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: C1386048
Disease:
Intrauterine retardation 		T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1386048
Disease:
Intrauterine retardation 		A 0.700 CausalMutation 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: 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: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1853738
Disease:
Long eyelashes 		A 0.700 CausalMutation 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: C1184923
Disease:
Lumbar hyperlordosis 		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: 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
dbSNP: rs864309486
rs864309486
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6 		T 0.700 CausalMutation CLINVAR