DisGeNET - a database of gene-disease associations

TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs118203347

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0005695
Disease:

Bladder Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs118203385

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0005695
Disease:

Bladder Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1323541164

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0005695
Disease:

Bladder Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs118203682

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1332852
Disease:

Cardiac rhabdomyoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs118203478

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0431380
Disease:

Cortical Dysplasia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518945

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1968959
Disease:

Cortical tubers

0.700

GeneticVariation

CLINVAR

dbSNP:

rs118203707

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1968959
Disease:

Cortical tubers

0.700

CausalMutation

CLINVAR

dbSNP:

rs7874234

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1176475
Disease:

Ductal Carcinoma

0.010

GeneticVariation

BEFREE

This study found that for TSC1 rs7874234, TT variant carriers had a 9-year later age at diagnosis of estrogen receptor positive (ER+), but not ER-, ductal carcinomas (P = 0.0049).

20658316

2011

dbSNP:

rs1212768461

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0085580
Disease:

Essential Hypertension

0.020

GeneticVariation

BEFREE

The roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups.

17997379

2008

dbSNP:

rs1212768461

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0085580
Disease:

Essential Hypertension

0.020

GeneticVariation

BEFREE

Lack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis.

23079845

2012

dbSNP:

rs1320206988

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0085580
Disease:

Essential Hypertension

0.010

GeneticVariation

BEFREE

The roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups.

17997379

2008

dbSNP:

rs7874234

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C4733092
Disease:

estrogen receptor-negative breast cancer

0.010

GeneticVariation

BEFREE

TSC1 rs7874234 is hypothesized to be functional in ER+ breast cancer because the T allele, but not the C allele, may create an estrogen receptor element (ERE) site, resulting in increased TSC1 transcription and subsequent inhibition of mTOR.

20658316

2011

dbSNP:

rs1057518945

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0265319
Disease:

Fibrous skin tumor of tuberous sclerosis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs749030456

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

CausalMutation

CLINVAR

dbSNP:

rs749030456

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

GeneticVariation

UNIPROT

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

28215400

2017

dbSNP:

rs1060505021

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

28215400

2017

dbSNP:

rs118203427

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

CausalMutation

CLINVAR

dbSNP:

rs118203542

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

CausalMutation

CLINVAR

dbSNP:

rs118203631

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

CausalMutation

CLINVAR

dbSNP:

rs1564488264

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C1846385
Disease:

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

CLINVAR

dbSNP:

rs118203682

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0018552
Disease:

Hamartoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs1212768461

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

No association or trend with hypertension was observed at Arg904Gln in Kazaks.

17997379

2008

dbSNP:

rs1320206988

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

No association with hypertension was observed at Thr418Ser in Uyghurs.

17997379

2008

dbSNP:

rs118203673

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0022578
Disease:

Keratoconus

0.010

GeneticVariation

BEFREE

A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC.

29261847

2017

dbSNP:

rs550526986

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

CUI:	C0022578
Disease:

Keratoconus

0.010

GeneticVariation

BEFREE

Two heterozygous missense TSC1 variants g.132896322A>T (c.3408A>T, p.Asp1136Glu) and g.132896452G>A (c.3278G>A, p.Arg1093Gln) were identified in three patients with nonsyndromic KC.

29261847

2017