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:	1857
Gene Symbol:	DVL3

DVL3

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	55764
Gene Symbol:	IFT122

IFT122

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	284058
Gene Symbol:	KANSL1

KANSL1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	8242
Gene Symbol:	KDM5C

KDM5C

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	55697
Gene Symbol:	VAC14

VAC14

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	7476
Gene Symbol:	WNT7A

WNT7A

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	51053
Gene Symbol:	GMNN

GMNN

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	4854
Gene Symbol:	NOTCH3

NOTCH3

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	10020
Gene Symbol:	GNE

GNE

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	860
Gene Symbol:	RUNX2

RUNX2

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

GeneticVariation

CLINVAR

Entrez Id:	4088
Gene Symbol:	SMAD3

SMAD3

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	2719
Gene Symbol:	GPC3

GPC3

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	136647
Gene Symbol:	MPLKIP

MPLKIP

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

GeneticVariation

CLINVAR

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

2017

Entrez Id:	129563
Gene Symbol:	DIS3L2

DIS3L2

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

Biomarker

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

CausalMutation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.100

GeneticVariation

CLINVAR

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