DisGeNET - a database of gene-disease associations

HR, HR lysine demethylase and nuclear receptor corepressor, 55806

N. diseases: 29; N. variants: 11

Disease: Alopecia universalis congenita ×

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:

rs121434448

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

Hairless is a histone H3K9 demethylase.

24334705

2014

dbSNP:

rs121434451

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

Hairless is a histone H3K9 demethylase.

24334705

2014

dbSNP:

rs121434448

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.

12406339

2002

dbSNP:

rs121434451

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.

12406339

2002

dbSNP:

rs121434448

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

Alopecia universalis associated with a mutation in the human hairless gene.

9445480

1998

dbSNP:

rs121434448

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

9736769

1998

dbSNP:

rs121434451

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

9736769

1998

dbSNP:

rs121434451

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

GeneticVariation

UNIPROT

Alopecia universalis associated with a mutation in the human hairless gene.

9445480

1998

dbSNP:

rs121434448

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434451

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.800

CausalMutation

CLINVAR

dbSNP:

rs773764015

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.700

CausalMutation

CLINVAR

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

9736769

1998

dbSNP:

rs7014851

Entrez Id:	55806
Gene Symbol:	HR

CUI:	C1859877
Disease:

Alopecia universalis congenita

0.700

GeneticVariation

UNIPROT