DisGeNET - a database of gene-disease associations

NOG, noggin, 9241

N. diseases: 206; N. variants: 17

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908949

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1969652
Disease:

BRACHYDACTYLY, TYPE B2 (disorder)

0.810

GeneticVariation

BEFREE

A different mutation in the same codon (R167G) has been described to cause brachydactyly type B2 (BDB2).

24326127

2014

dbSNP:

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:

rs121908949

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1969652
Disease:

BRACHYDACTYLY, TYPE B2 (disorder)

0.810

GeneticVariation

UNIPROT

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

17668388

2007

dbSNP:

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

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

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

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:

rs121908949

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1969652
Disease:

BRACHYDACTYLY, TYPE B2 (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs28937580

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C3714899
Disease:

SYMPHALANGISM, PROXIMAL, 1A

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894603

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C0342282
Disease:

Multiple synostoses syndrome 1

0.800

GeneticVariation

UNIPROT

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

20503332

2010

dbSNP:

rs387906844

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C0342282
Disease:

Multiple synostoses syndrome 1

0.800

GeneticVariation

UNIPROT

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

20503332

2010

dbSNP:

rs28937580

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1969652
Disease:

BRACHYDACTYLY, TYPE B2 (disorder)

0.800

GeneticVariation

UNIPROT

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

17668388

2007

dbSNP:

rs104894602

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:

rs104894608

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:

rs104894609

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:

rs104894611

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

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:

rs121908948

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:

rs104894602

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:

rs104894602

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1861305
Disease:

TARSAL-CARPAL COALITION SYNDROME

0.800

GeneticVariation

UNIPROT

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

11545688

2002

dbSNP:

rs104894608

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:

rs104894609

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:

rs104894610

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1861305
Disease:

TARSAL-CARPAL COALITION SYNDROME

0.800

GeneticVariation

UNIPROT

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

11545688

2002

dbSNP:

rs104894611

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:

rs104894611

Entrez Id:	9241
Gene Symbol:	NOG

NOG

CUI:	C1861305
Disease:

TARSAL-CARPAL COALITION SYNDROME

0.800

GeneticVariation

UNIPROT

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

11545688

2002