DisGeNET - a database of gene-disease associations

UNCOMBABLE HAIR SYNDROME 1, C4551573

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	51702
Gene Symbol:	PADI3

PADI3

0.400

GeneticVariation

disease

UNIPROT

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

2016

Entrez Id:	51702
Gene Symbol:	PADI3

PADI3

0.400

CausalMutation

disease

CLINVAR