DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Ptosis ×

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:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.410

Biomarker

HPO

Entrez Id:	668
Gene Symbol:	FOXL2

FOXL2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.200

Biomarker

HPO

Entrez Id:	9427
Gene Symbol:	ECEL1

ECEL1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.130

Biomarker

HPO

Entrez Id:	7291
Gene Symbol:	TWIST1

TWIST1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.120

Biomarker

HPO

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.120

Biomarker

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.120

Biomarker

HPO

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	1763
Gene Symbol:	DNA2

DNA2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	246329
Gene Symbol:	STAC3

STAC3

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	1785
Gene Symbol:	DNM2

DNM2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	9997
Gene Symbol:	SCO2

SCO2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	25836
Gene Symbol:	NIPBL

NIPBL

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	7862
Gene Symbol:	BRPF1

BRPF1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	1906
Gene Symbol:	EDN1

EDN1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	10381
Gene Symbol:	TUBB3

TUBB3

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	56652
Gene Symbol:	TWNK

TWNK

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	6949
Gene Symbol:	TCOF1

TCOF1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	84617
Gene Symbol:	TUBB6

TUBB6

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	4574
Gene Symbol:	TRNS1

TRNS1

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	11232
Gene Symbol:	POLG2

POLG2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	285489
Gene Symbol:	DOK7

DOK7

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO