DisGeNET - a database of gene-disease associations

Source: ANIMAL_MODELS

Disease: Acampomelic Campomelic Dysplasia ×

Gene: SOX9 ×

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:	6662
Gene Symbol:	SOX9

SOX9

CUI:	C1861923
Disease:	Acampomelic Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

0.690

Biomarker

MGD

Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.

26234751

2016

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

CUI:	C1861923
Disease:	Acampomelic Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

0.690

Biomarker

MGD

Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.

11857796

2002

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

CUI:	C1861923
Disease:	Acampomelic Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

0.690

Biomarker

MGD

Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization.

11371614

2001