DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Narrow thorax ×

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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:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	5351
Gene Symbol:	PLOD1

PLOD1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	254863
Gene Symbol:	TMEM256

TMEM256

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR

Entrez Id:	147965
Gene Symbol:	FAM98C

FAM98C

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	166378
Gene Symbol:	SPATA5

SPATA5

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR

Entrez Id:	4750
Gene Symbol:	NEK1

NEK1

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

CausalMutation

CLINVAR

Entrez Id:	100529211
Gene Symbol:	TMEM256-PLSCR3

TMEM256-PLSCR3

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.100

GeneticVariation

CLINVAR