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:	4338
Gene Symbol:	MOCS2

MOCS2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	55650
Gene Symbol:	PIGV

PIGV

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	55210
Gene Symbol:	ATAD3A

ATAD3A

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	3835
Gene Symbol:	KIF22

KIF22

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6229
Gene Symbol:	RPS24

RPS24

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	9719
Gene Symbol:	ADAMTSL2

ADAMTSL2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	80324
Gene Symbol:	PUS1

PUS1

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6651
Gene Symbol:	SON

SON

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	25782
Gene Symbol:	RAB3GAP2

RAB3GAP2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	10907
Gene Symbol:	TXNL4A

TXNL4A

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	8913
Gene Symbol:	CACNA1G

CACNA1G

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	4893
Gene Symbol:	NRAS

NRAS

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6997
Gene Symbol:	TDGF1

TDGF1

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6135
Gene Symbol:	RPL11

RPL11

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	551
Gene Symbol:	AVP

AVP

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	26608
Gene Symbol:	TBL2

TBL2

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO

Entrez Id:	1896
Gene Symbol:	EDA

EDA

CUI:	C1854114
Disease:	Short nose

Short nose

0.100

Biomarker

HPO