DisGeNET - a database of gene-disease associations

TSPEAR, thrombospondin type laminin G domain and EAR repeats, 54084

N. diseases: 29; N. variants: 9

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:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C4022010
Disease:	Maternal seizures

Maternal seizures

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C1844813
Disease:	Widely spaced teeth

Widely spaced teeth

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0036572
Disease:	Seizures

Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0457756
Disease:	Tooth absent

Tooth absent

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0234518
Disease:	Slurred speech

Slurred speech

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

Behavior and Behavior Mechanisms

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0231471
Disease:	Abnormal posture

Abnormal posture

Nervous System Diseases

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0266039
Disease:	Taurodontism

Taurodontism

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases

0.700

1.000

2016

dbSNP:

rs1569151872

0.851

0.240

44509225

frameshift variant

GAC/AA

delins

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

Mental Disorders

0.700

1.000

2016