DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Thumb deformity ×

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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:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.100

CausalMutation

CLINVAR

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.100

GeneticVariation

CLINVAR

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.100

CausalMutation

CLINVAR

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.100

CausalMutation

CLINVAR

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.100

GeneticVariation

CLINVAR

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.100

GeneticVariation

CLINVAR