DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Short palpebral fissure ×

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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:	2186
Gene Symbol:	BPTF

BPTF

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

GeneticVariation

CLINVAR

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

28942966

2017

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

27075689

2016

Entrez Id:	51053
Gene Symbol:	GMNN

GMNN

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

26637980

2015

Entrez Id:	4613
Gene Symbol:	MYCN

MYCN

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

15821734

2005

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

GeneticVariation

CLINVAR

Entrez Id:	23389
Gene Symbol:	MED13L

MED13L

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Entrez Id:	79228
Gene Symbol:	THOC6

THOC6

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Entrez Id:	8239
Gene Symbol:	USP9X

USP9X

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

GeneticVariation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

GeneticVariation

CLINVAR

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

GeneticVariation

CLINVAR

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

CausalMutation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C0423112
Disease:	Short palpebral fissure

Short palpebral fissure

0.100

GeneticVariation

CLINVAR