DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Aplasia/Hypoplasia of the thymus ×

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

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:	118429
Gene Symbol:	ANTXR2

ANTXR2

ANTXR cell adhesion molecule 2

0.568

0.808

8.7E-02

CUI:	C4023796
Disease:	Aplasia/Hypoplasia of the thymus

Aplasia/Hypoplasia of the thymus

disease

0.100

None

0

Entrez Id:	204
Gene Symbol:	AK2

AK2

adenylate kinase 2

0.678

0.423

6.3E-05

CUI:	C4023796
Disease:	Aplasia/Hypoplasia of the thymus

Aplasia/Hypoplasia of the thymus

disease

0.100

None

0

Entrez Id:	472
Gene Symbol:	ATM

ATM

ATM serine/threonine kinase

0.374

0.885

5.6E-47

CUI:	C4023796
Disease:	Aplasia/Hypoplasia of the thymus

Aplasia/Hypoplasia of the thymus

disease

0.100

None

0

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

chromodomain helicase DNA binding protein 7

0.441

0.846

1.00

CUI:	C4023796
Disease:	Aplasia/Hypoplasia of the thymus

Aplasia/Hypoplasia of the thymus

disease

0.100

None

0

Entrez Id:	6899
Gene Symbol:	TBX1

TBX1

T-box transcription factor 1

0.433

0.808

0.84

CUI:	C4023796
Disease:	Aplasia/Hypoplasia of the thymus

Aplasia/Hypoplasia of the thymus

disease

0.100

None

0

Entrez Id:	9723
Gene Symbol:	SEMA3E

SEMA3E

semaphorin 3E

0.515

0.769

8.7E-09

CUI:	C4023796
Disease:	Aplasia/Hypoplasia of the thymus

Aplasia/Hypoplasia of the thymus

disease

0.100

None

0