DisGeNET - a database of gene-disease associations

HYDIN, HYDIN axonemal central pair apparatus protein, 54768

N. diseases: 61; N. variants: 7

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:

rs62039170

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs111843364

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C0018935
Disease:

Hematocrit procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs12149261

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASDB

The index SNP (rs12149261) on chromosome 16q22 associated with WBC count is located in a large inter-chromosomal segmental duplication encompassing part of the hydrocephalus inducing homolog (HYDIN) gene.

21738479

2011

dbSNP:

rs1567744830

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C4025279
Disease:

Respiratory failure requiring assisted ventilation

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1567744830

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C0013274
Disease:

Patent ductus arteriosus

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1567744830

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C2973725
Disease:

Pulmonary arterial hypertension

0.700

GeneticVariation

CLINVAR

dbSNP:

rs373501414

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C1837615
Disease:

Ciliary Dyskinesia, Primary, 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs397515413

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C1837615
Disease:

Ciliary Dyskinesia, Primary, 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs397515413

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C4551906
Disease:

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

0.700

CausalMutation

CLINVAR

dbSNP:

rs397515414

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C4551906
Disease:

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

0.700

CausalMutation

CLINVAR

dbSNP:

rs397515414

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C1837615
Disease:

Ciliary Dyskinesia, Primary, 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs397515414

Entrez Id:	54768
Gene Symbol:	HYDIN

HYDIN

CUI:	C4551720
Disease:

Primary Ciliary Dyskinesia

0.010

GeneticVariation

BEFREE

Parallel whole-exome sequencing identified a homozygous nonsense HYDIN mutation, c.922A>T (p.Lys307(∗)), in six individuals from three Faroe Island PCD-affected families that all carried an 8.8 Mb shared haplotype across HYDIN, indicating an ancestral founder mutation in this isolated population.

23022101

2012