DisGeNET - a database of gene-disease associations

Source: ALL

Disease: 11 pairs of ribs ×

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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:	23498
Gene Symbol:	HAAO

HAAO

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

CausalMutation

CLINVAR

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

2017

Entrez Id:	8942
Gene Symbol:	KYNU

KYNU

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

CausalMutation

CLINVAR

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

2017

Entrez Id:	63976
Gene Symbol:	PRDM16

PRDM16

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	6223
Gene Symbol:	RPS19

RPS19

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	2317
Gene Symbol:	FLNB

FLNB

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	473
Gene Symbol:	RERE

RERE

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

GeneticVariation

CLINVAR

Entrez Id:	545
Gene Symbol:	ATR

ATR

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	6497
Gene Symbol:	SKI

SKI

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	473
Gene Symbol:	RERE

RERE

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	2563
Gene Symbol:	GABRD

GABRD

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	6628
Gene Symbol:	SNRPB

SNRPB

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	126792
Gene Symbol:	B3GALT6

B3GALT6

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	55835
Gene Symbol:	CENPJ

CENPJ

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	3930
Gene Symbol:	LBR

LBR

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	6657
Gene Symbol:	SOX2

SOX2

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	2879
Gene Symbol:	GPX4

GPX4

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

CUI:	C1839731
Disease:	11 pairs of ribs

11 pairs of ribs

0.100

Biomarker

HPO