DisGeNET - a database of gene-disease associations

ANKLE2, ankyrin repeat and LEM domain containing 2, 23141

N. diseases: 42; N. variants: 6

Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE ×

Source: ALL

Results per page

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:	C4225249
Disease:	MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

disease

UNIPROT

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

25259927

2014

CUI:	C4225249
Disease:	MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

0.700

Biomarker

disease

GENOMICS_ENGLAND

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

25259927

2014

CUI:	C4225249
Disease:	MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

0.700

Biomarker

disease

CTD_human

CUI:	C4225249
Disease:	MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

disease

CLINVAR