DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type ×

Gene: PAPSS2 ×

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:	9060
Gene Symbol:	PAPSS2

PAPSS2

CUI:	C2748515
Disease:	Spondyloepimetaphyseal Dysplasia, Pakistani Type

Spondyloepimetaphyseal Dysplasia, Pakistani Type

0.920

Biomarker

MGD

A member of a family of sulfate-activating enzymes causes murine brachymorphism.

9671738

1998

Entrez Id:	9060
Gene Symbol:	PAPSS2

PAPSS2

CUI:	C2748515
Disease:	Spondyloepimetaphyseal Dysplasia, Pakistani Type

Spondyloepimetaphyseal Dysplasia, Pakistani Type

0.920

Biomarker

MGD

Cortisone-induced cleft palate in the brachymorphic mouse.

6119797

1980

Entrez Id:	9060
Gene Symbol:	PAPSS2

PAPSS2

CUI:	C2748515
Disease:	Spondyloepimetaphyseal Dysplasia, Pakistani Type

Spondyloepimetaphyseal Dysplasia, Pakistani Type

0.920

Biomarker

MGD

Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby.

5713631

1969