DisGeNET - a database of gene-disease associations

ZNF644, zinc finger protein 644, 84146

N. diseases: 6; N. variants: 11

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:

rs387907109

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

New ZNF644 mutations identified in patients with high myopia.

24991186

2014

dbSNP:

rs387907109

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

25525168

2014

dbSNP:

rs387907109

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.

22539872

2012

dbSNP:

rs387907109

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies ZNF644 mutations in high myopia.

21695231

2011

dbSNP:

rs146936371

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

CausalMutation

CLINVAR

dbSNP:

rs146936371

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907109

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.800

CausalMutation

CLINVAR

dbSNP:

rs149597385

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

New ZNF644 mutations identified in patients with high myopia.

24991186

2014

dbSNP:

rs149597385

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

25525168

2014

dbSNP:

rs149597385

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.

22539872

2012

dbSNP:

rs149597385

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

Exome sequencing identifies ZNF644 mutations in high myopia.

21695231

2011

dbSNP:

rs1050960158

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

dbSNP:

rs143932357

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

dbSNP:

rs193167060

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

dbSNP:

rs201546602

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

dbSNP:

rs587776903

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

CausalMutation

CLINVAR

dbSNP:

rs774685437

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C3279997
Disease:

MYOPIA 21, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

dbSNP:

rs387907109

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C0271183
Disease:

Severe myopia

0.010

GeneticVariation

BEFREE

Zinc finger 644 (Zfp644 in mouse, ZNF644 in human) gene is a transcription factor whose mutation S672G is considered a potential genetic factor of inherited high myopia.

30834109

2019

dbSNP:

rs748448196

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C0027092
Disease:

Myopia

0.010

GeneticVariation

BEFREE

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the <i>Zfp644</i> mimic human disease phenotype.

30834109

2019

dbSNP:

rs754440728

Entrez Id:	84146
Gene Symbol:	ZNF644

ZNF644

CUI:	C0271183
Disease:

Severe myopia

0.010

GeneticVariation

BEFREE

The ZNF644 gene showed five heterozygous missense mutations (c.1106A>T, p.K369M; c.1648G>A, p.A550T; c.2014A>G, p.S672G; c.2048G>C, p.R683T, and c.2551G>C, p.D851H) in five families, but the c.1106A>T, (p.K369M) and c.1648G>A, (p.A550T) in ZNF644 did not co-segregated with high myopia in the families and should be excluded as causative mutations.

25525168

2014