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: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.810 GeneticVariation BEFREE Interestingly, we found that the mutation P35S described in this family has already been reported in patients affected with SYM1 as well as with BDB syndromes. 18440889 2008
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.810 GeneticVariation UNIPROT The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. 15770128 2005
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.810 GeneticVariation UNIPROT Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 11857750 2002
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.810 GeneticVariation UNIPROT Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 11846737 2001
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.810 GeneticVariation UNIPROT Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 10080184 1999
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		T 0.810 CausalMutation CLINVAR