DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Microcephalic osteodysplastic primordial dwarfism types I and III ×

Gene: RNU4ATAC ×

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:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

CUI:	C4319565
Disease:	Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalic osteodysplastic primordial dwarfism types I and III

0.300

GermlineCausalMutation

ORPHANET

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

23794361

2013

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

CUI:	C4319565
Disease:	Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalic osteodysplastic primordial dwarfism types I and III

0.300

GermlineCausalMutation

ORPHANET

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

21815888

2012