rs104894612, NOG

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SYMPHALANGISM, PROXIMAL, 1A
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
SYMPHALANGISM, PROXIMAL, 1A
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
SYMPHALANGISM, PROXIMAL, 1A
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
SYMPHALANGISM, PROXIMAL, 1A
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
0.800 GeneticVariation UNIPROT Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 10080184 1999
SYMPHALANGISM, PROXIMAL, 1A
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
0.800 CausalMutation CLINVAR
Syndactyly
CUI: C0039075
Disease: Syndactyly
0.010 GeneticVariation BEFREE We found three novel mutations: g.551G>A (C184Y) in a sporadic case of symphalangism, g.386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. 11846737 2001
Multiple synostosis syndrome
CUI: C0175700
Disease: Multiple synostosis syndrome
0.010 GeneticVariation BEFREE We found three novel mutations: g.551G>A (C184Y) in a sporadic case of symphalangism, g.386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. 11846737 2001