DisGeNET - a database of gene-disease associations

rs78300695, TREX1;ATRIP-TREX1;ATRIP

N. diseases: 8

Source: INFERRED ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Abnormality of the medulla oblongata

CUI:	C4021148
Disease:	Abnormality of the medulla oblongata

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

Abnormality of the periventricular white matter

CUI:	C2673431
Disease:	Abnormality of the periventricular white matter

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

AICARDI-GOUTIERES SYNDROME 1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

Cerebellar Hypoplasia

CUI:	C0266470
Disease:	Cerebellar Hypoplasia

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

Cortical gyral simplification

CUI:	C2749675
Disease:	Cortical gyral simplification

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

Generalized hypotonia

CUI:	C1858120
Disease:	Generalized hypotonia

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

Hypoplasia of the brainstem

CUI:	C1842688
Disease:	Hypoplasia of the brainstem

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016

Seizures

CUI:	C0036572
Disease:	Seizures

0.882

0.200

3

48466711

frameshift variant

-/G

delins

2.1E-05

0.700

1.000

2016

2016