DisGeNET - a database of gene-disease associations

NCEH1, neutral cholesterol ester hydrolase 1, 57552

N. diseases: 5; N. variants: 10

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs11712263

rs11712263

1.000

0.040

3

172667903

intron variant

C/T

snv

0.20

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs3902414

rs3902414

1.000

0.040

3

172659358

intron variant

A/G

snv

0.49

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs3980271

rs3980271

1.000

0.040

3

172667506

intron variant

C/T

snv

0.49

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9845794

rs9845794

1.000

0.040

3

172668566

intron variant

G/A

snv

0.25

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9845799

rs9845799

1.000

0.040

3

172668581

intron variant

G/A

snv

0.20

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9862424

rs9862424

1.000

0.040

3

172671968

intron variant

G/A

snv

0.14

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9865721

rs9865721

1.000

0.040

3

172668798

intron variant

T/C

snv

5.8E-02

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9866214

rs9866214

1.000

0.040

3

172672083

intron variant

G/C

snv

0.11

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9883329

rs9883329

1.000

0.040

3

172666800

intron variant

T/C

snv

0.45

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs9883371

rs9883371

1.000

0.040

3

172668818

intron variant

A/G

snv

7.5E-02

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

Neoplasms

0.700

1.000

2017

2017