DisGeNET - a database of gene-disease associations

rs200426926, THOC6;BICDL2

N. diseases: 13

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

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.

Multiple congenital anomalies

CUI:	C0000772
Disease:	Multiple congenital anomalies

350

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

1.000

2000

2017

Muscle hypotonia

CUI:	C0026827
Disease:	Muscle hypotonia

579

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

1.000

2000

2017

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

CUI:	C3150939
Disease:	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

11

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

1.000

2016

2016

Congenital Epicanthus

CUI:	C0678230
Disease:	Congenital Epicanthus

30

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Cryptorchidism

CUI:	C0010417
Disease:	Cryptorchidism

80

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Dysmorphic facies

CUI:	C0424503
Disease:	Dysmorphic facies

106

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

553

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Pediatric failure to thrive

CUI:	C2315100
Disease:	Pediatric failure to thrive

122

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Plagiocephaly

CUI:	C0265529
Disease:	Plagiocephaly

12

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Short palpebral fissure

CUI:	C0423112
Disease:	Short palpebral fissure

16

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Sprengel deformity

CUI:	C0152438
Disease:	Sprengel deformity

4

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Sunken eyes

CUI:	C0423224
Disease:	Sunken eyes

54

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700

Synophrys

CUI:	C0431447
Disease:	Synophrys

23

0.776

0.400

16

3027379

missense variant

G/A;T

snv

1.8E-04; 4.0E-06

0.700