DisGeNET - a database of gene-disease associations

CHD7, chromodomain helicase DNA binding protein 7, 55636

N. diseases: 419; N. variants: 247

Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA ×

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:

rs121434345

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121434345

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.800

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs121434345

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.800

GeneticVariation

UNIPROT

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

18834967

2008

dbSNP:

rs121434345

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs794727423

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

CausalMutation

CLINVAR

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

26538304

2016

dbSNP:

rs121434343

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121434344

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs1467824778

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs1554602465

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs200806228

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs587783435

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs759918327

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs772260091

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs886041167

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs398124321

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

CausalMutation

CLINVAR

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

22033296

2012

dbSNP:

rs398124321

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

CausalMutation

CLINVAR

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

21931733

2011

dbSNP:

rs121434343

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs121434344

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs1467824778

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs1554602465

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs200806228

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs587783435

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs759918327

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs772260091

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs886041167

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C3552553
Disease:

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

0.700

GeneticVariation

UNIPROT

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010