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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	23363
Gene Symbol:	OBSL1

OBSL1

obscurin like cytoskeletal adaptor 1

0.686

0.308

1.0E-25

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

phenotype

0.100

None

1.000

2019

2019

Entrez Id:	89953
Gene Symbol:	KLC4

KLC4

kinesin light chain 4

0.743

0.308

1.2E-03

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

phenotype

0.100

None

1.000

2019

2019

Entrez Id:	9820
Gene Symbol:	CUL7

CUL7

cullin 7

0.633

0.500

2.6E-21

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

phenotype

0.100

None

1.000

2019

2019

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

0.534

0.769

1.00

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

phenotype

0.100

None

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

patched 1

0.398

0.885

1.00

CUI:	C1833144
Disease:	Slender long bone

Slender long bone

phenotype

0.100

None