NOG, noggin, 9241

N. diseases: 206; N. variants: 17
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 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908948
rs121908948
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1969652
Disease:
BRACHYDACTYLY, TYPE B2 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1969652
Disease:
BRACHYDACTYLY, TYPE B2 (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906844
rs387906844
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C0342282
Disease:
Multiple synostoses syndrome 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1866656
Disease:
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 		0.710 GeneticVariation BEFREE P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 18440889 2008
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1866656
Disease:
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 		T 0.710 CausalMutation CLINVAR
dbSNP: rs104894615
rs104894615
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.700 GeneticVariation UNIPROT The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. 15770128 2005
dbSNP: rs104894615
rs104894615
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.700 GeneticVariation UNIPROT Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 11857750 2002
dbSNP: rs104894615
rs104894615
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.700 GeneticVariation UNIPROT Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 11846737 2001
dbSNP: rs104894615
rs104894615
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		0.700 GeneticVariation UNIPROT Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 10080184 1999
dbSNP: rs104894613
rs104894613
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894614
rs104894614
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1866656
Disease:
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894615
rs104894615
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C0342282
Disease:
Multiple synostoses syndrome 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567745111
rs1567745111
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C3714899
Disease:
SYMPHALANGISM, PROXIMAL, 1A 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567745119
rs1567745119
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C0342282
Disease:
Multiple synostoses syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199566527
rs199566527
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva 		0.010 GeneticVariation BEFREE We conclude that p.G92E represents a rare polymorphism of the NOGGIN gene-- causing neither brachydactyly nor fibrodysplasia ossificans progressiva. 22529972 2012
dbSNP: rs199566527
rs199566527
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		0.010 GeneticVariation BEFREE We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype. 22529972 2012
dbSNP: rs199566527
rs199566527
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C0221357
Disease:
Brachydactyly 		0.010 GeneticVariation BEFREE We conclude that p.G92E represents a rare polymorphism of the NOGGIN gene-- causing neither brachydactyly nor fibrodysplasia ossificans progressiva. 22529972 2012
dbSNP: rs28937580
rs28937580
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		0.010 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: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
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
dbSNP: rs104894612
rs104894612
Entrez Id: 9241
Gene Symbol: NOG
NOG
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
dbSNP: rs104894613
rs104894613
Entrez Id: 9241
Gene Symbol: NOG
NOG
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
dbSNP: rs104894613
rs104894613
Entrez Id: 9241
Gene Symbol: NOG
NOG
CUI: C1611743
Disease:
Familial (FPAH) 		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