DisGeNET - a database of gene-disease associations

ZBTB18, zinc finger and BTB domain containing 18, 10472

N. diseases: 57; N. variants: 15

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 ×

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3808184
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

0.600

CausalMutation

disease

CLINVAR

CUI:	C3808184
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

0.600

Biomarker

disease

GENOMICS_ENGLAND

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

25529582

2015

CUI:	C3808184
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

0.600

Biomarker

disease

CTD_human

CUI:	C3808184
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

0.600

GeneticVariation

disease

CLINVAR

CUI:	C3808184
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

0.600

Biomarker

disease

GENOMICS_ENGLAND

Identification of novel genetic causes of Rett syndrome-like phenotypes.

26740508

2016