DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Long face ×

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:	23118
Gene Symbol:	TAB2

TAB2

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	1795
Gene Symbol:	DOCK3

DOCK3

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	51524
Gene Symbol:	TMEM138

TMEM138

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	10084
Gene Symbol:	PQBP1

PQBP1

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	113246
Gene Symbol:	C12orf57

C12orf57

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	1145
Gene Symbol:	CHRNE

CHRNE

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	11011
Gene Symbol:	TLK2

TLK2

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	4703
Gene Symbol:	NEB

NEB

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	613
Gene Symbol:	BCR

BCR

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	2332
Gene Symbol:	FMR1

FMR1

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	4784
Gene Symbol:	NFIX

NFIX

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	65250
Gene Symbol:	CPLANE1

CPLANE1

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	390594
Gene Symbol:	KBTBD13

KBTBD13

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	1968
Gene Symbol:	EIF2S3

EIF2S3

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	7170
Gene Symbol:	TPM3

TPM3

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	5422
Gene Symbol:	POLA1

POLA1

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO

Entrez Id:	23322
Gene Symbol:	RPGRIP1L

RPGRIP1L

CUI:	C1836047
Disease:	Long face

Long face

0.100

Biomarker

HPO