DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Proportionate short stature ×

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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:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	81857
Gene Symbol:	MED25

MED25

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	823
Gene Symbol:	CAPN1

CAPN1

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	81857
Gene Symbol:	MED25

MED25

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	6777
Gene Symbol:	STAT5B

STAT5B

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.100

CausalMutation

CLINVAR