NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: SYMPHALANGISM, PROXIMAL, 1A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.800 GeneticVariation UNIPROT The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. 15770128 2005
dbSNP: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.800 GeneticVariation UNIPROT Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 11857750 2002
dbSNP: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.800 GeneticVariation UNIPROT Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 11846737 2001
dbSNP: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.800 GeneticVariation UNIPROT Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 10080184 1999
dbSNP: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		A 0.800 CausalMutation CLINVAR