DisGeNET - a database of gene-disease associations

Source: ALL

Disease: High, narrow palate ×

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:	91179
Gene Symbol:	SCARF2

SCARF2

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	2006
Gene Symbol:	ELN

ELN

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

CausalMutation

CLINVAR

Entrez Id:	8076
Gene Symbol:	MFAP5

MFAP5

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	4998
Gene Symbol:	ORC1

ORC1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	1289
Gene Symbol:	COL5A1

COL5A1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	4015
Gene Symbol:	LOX

LOX

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	5000
Gene Symbol:	ORC4

ORC4

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	582
Gene Symbol:	BBS1

BBS1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	6497
Gene Symbol:	SKI

SKI

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	5594
Gene Symbol:	MAPK1

MAPK1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	28952
Gene Symbol:	CCDC22

CCDC22

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

GeneticVariation

CLINVAR

Entrez Id:	83479
Gene Symbol:	DDX59

DDX59

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	25836
Gene Symbol:	NIPBL

NIPBL

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	538
Gene Symbol:	ATP7A

ATP7A

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	324
Gene Symbol:	APC

APC

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	196528
Gene Symbol:	ARID2

ARID2

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	2535
Gene Symbol:	FZD2

FZD2

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	27152
Gene Symbol:	INTU

INTU

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	613
Gene Symbol:	BCR

BCR

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO