DisGeNET - a database of gene-disease associations

CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16

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:

rs761805324

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

29511323

2018

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

29511323

2018

dbSNP:

rs761805324

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs761805324

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

28374019

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

28374019

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs761805324

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

27818385

2016

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

GeneticVariation

UNIPROT

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

27818385

2016

dbSNP:

rs761805324

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4748608
Disease:

NEUROPATHY, CONGENITAL HYPOMYELINATING, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs142029931

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C1269683
Disease:

Major Depressive Disorder

0.700

GeneticVariation

GWASCAT

The PHF21B gene is associated with major depression and modulates the stress response.

27777418

2017

dbSNP:

rs72826962

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C0678222
Disease:

Breast Carcinoma

0.700

GeneticVariation

GWASCAT

Association analysis identifies 65 new breast cancer risk loci.

29059683

2017

dbSNP:

rs768554986

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4225386
Disease:

LETHAL CONGENITAL CONTRACTURE SYNDROME 7

0.700

GeneticVariation

UNIPROT

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

27782105

2017

dbSNP:

rs768554986

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4225386
Disease:

LETHAL CONGENITAL CONTRACTURE SYNDROME 7

0.700

GeneticVariation

UNIPROT

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

28374019

2017

dbSNP:

rs768554986

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4225386
Disease:

LETHAL CONGENITAL CONTRACTURE SYNDROME 7

0.700

GeneticVariation

UNIPROT

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

28254648

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C0239676
Disease:

High forehead

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4281993
Disease:

Neonatal respiratory distress

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4022735
Disease:

Cerebral white matter atrophy

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C1856660
Disease:

Abnormality of the helix

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C1865119
Disease:

Progressive ventriculomegaly

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C2267233
Disease:

Neonatal Hypotonia

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4024927
Disease:

Peripheral hypomyelination

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C0431370
Disease:

Atrophy of corpus callosum

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C1837404
Disease:

High, narrow palate

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

dbSNP:

rs779027563

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C1861324
Disease:

Short philtrum

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017