DisGeNET - a database of gene-disease associations

TBX2, T-box transcription factor 2, 6909

N. diseases: 152; N. variants: 11

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:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0521525
Disease:	Short neck

Short neck

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0240953
Disease:	Winged scapula

Winged scapula

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0685894
Disease:	Congenital absence of thymus

Congenital absence of thymus

Immune System Diseases

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1835884
Disease:	Triangular face

Triangular face

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1837108
Disease:	Decreased muscle mass

Decreased muscle mass

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1840069
Disease:	Sandal gap

Sandal gap

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0392006
Disease:	Unilateral cleft lip

Unilateral cleft lip

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

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C4748741
Disease:	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION

VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION

0.800

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1849221
Disease:	Fair hair

Fair hair

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1849340
Disease:	Long palpebral fissure

Long palpebral fissure

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0158731
Disease:	Congenital pectus carinatum

Congenital pectus carinatum

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

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

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1837218
Disease:	Cleft palate, isolated

Cleft palate, isolated

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

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0040147
Disease:	Thyroiditis

Thyroiditis

Endocrine System Diseases

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C4022143
Disease:	Unilateral cleft palate

Unilateral cleft palate

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0685409
Disease:	Congenital Camptodactyly

Congenital Camptodactyly

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

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0036572
Disease:	Seizures

Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0152438
Disease:	Sprengel deformity

Sprengel deformity

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1853638
Disease:	Broad neck

Broad neck

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

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

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C1859717
Disease:	Depressed nasal tip

Depressed nasal tip

0.700

dbSNP:

rs1364709483

0.701

0.360

61400235

missense variant

G/A

snv

6.5E-05

CUI:	C4012968
Disease:	Mild global developmental delay

Mild global developmental delay

0.700