DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Slender long bone ×

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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:	9820
Gene Symbol:	CUL7

CUL7

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

0.100

GeneticVariation

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

30980518

2019

Entrez Id:	23363
Gene Symbol:	OBSL1

OBSL1

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

0.100

GeneticVariation

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

30980518

2019

Entrez Id:	89953
Gene Symbol:	KLC4

KLC4

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

0.100

GeneticVariation

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

30980518

2019

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

0.100

CausalMutation

CLINVAR

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

0.100

CausalMutation

CLINVAR