DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Bilateral ptosis ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

actin like 6B

0.656

0.462

2.8E-04

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

1.000

2019

2019

Entrez Id:	1674
Gene Symbol:	DES

DES

desmin

0.460

0.846

8.8E-03

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

patched 1

0.398

0.885

1.00

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	56652
Gene Symbol:	TWNK

TWNK

twinkle mtDNA helicase

0.516

0.692

3.2E-03

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

ASXL transcriptional regulator 2

0.617

0.692

1.00

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

muscle associated receptor tyrosine kinase

0.570

0.769

4.2E-08

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

lysine methyltransferase 2A

0.410

0.885

1.00

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	4285
Gene Symbol:	MIPEP

MIPEP

mitochondrial intermediate peptidase

0.666

0.615

1.6E-15

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

KRAS proto-oncogene, GTPase

0.320

0.923

7.9E-04

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	23203
Gene Symbol:	PMPCA

PMPCA

peptidase, mitochondrial processing subunit alpha

0.633

0.577

3.4E-11

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

protein tyrosine phosphatase non-receptor type 11

0.385

0.923

1.00

CUI:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

phenotype

0.100

None