DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Short nose ×

Results per page

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:	641
Gene Symbol:	BLM

BLM

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	27125
Gene Symbol:	AFF4

AFF4

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	4337
Gene Symbol:	MOCS1

MOCS1

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	51604
Gene Symbol:	PIGT

PIGT

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	84162
Gene Symbol:	KIAA1109

KIAA1109

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	2314
Gene Symbol:	FLII

FLII

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	9897
Gene Symbol:	WASHC5

WASHC5

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	11141
Gene Symbol:	IL1RAPL1

IL1RAPL1

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6664
Gene Symbol:	SOX11

SOX11

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	5077
Gene Symbol:	PAX3

PAX3

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6125
Gene Symbol:	RPL5

RPL5

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	7204
Gene Symbol:	TRIO

TRIO

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	8818
Gene Symbol:	DPM2

DPM2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	1789
Gene Symbol:	DNMT3B

DNMT3B

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	90121
Gene Symbol:	TSR2

TSR2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	4621
Gene Symbol:	MYH3

MYH3

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6218
Gene Symbol:	RPS17

RPS17

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	22930
Gene Symbol:	RAB3GAP1

RAB3GAP1

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	2629
Gene Symbol:	GBA

GBA

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	1836
Gene Symbol:	SLC26A2

SLC26A2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	54928
Gene Symbol:	IMPAD1

IMPAD1

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO