DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Brachycephaly ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7545
Gene Symbol:	ZIC1

ZIC1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.600

Biomarker

CTD_human

Entrez Id:	7545
Gene Symbol:	ZIC1

ZIC1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.600

Biomarker

HPO

Entrez Id:	7545
Gene Symbol:	ZIC1

ZIC1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.600

GermlineCausalMutation

ORPHANET

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

2015