DisGeNET - a database of gene-disease associations

Bifid uvula, C4551488

N. genes: 7; N. variants: 7

Source: CLINVAR ×

Results per page

Gene

Disease 2

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

N. genes1

N. genes2

N. of shared genes

Jaccard_g

p-value_g

N. variants1

N. variants2

N. of shared variants

Jaccard_v

p-value_v

Associated Disease

N. genes

N. variants

N. of shared genes

JI_g

p-value_g

N. of shared variants

JI_v

p-value_v

CUI:	C0152236
Disease:	Talipes valgus

2

2

2

0.29

2

0.29

CUI:	C0432103
Disease:	Submucous cleft of hard palate

Submucous cleft of hard palate

3

3

2

0.25

2

0.25

CUI:	C0152101
Disease:	Hypoplastic Left Heart Syndrome

Hypoplastic Left Heart Syndrome

6

0

2

0.18

0

0

CUI:	C0746102
Disease:	Chronic lung disease

Chronic lung disease

6

7

2

0.18

2

0.17

CUI:	C1865304
Disease:	Overfolding of the superior helices

Overfolding of the superior helices

6

7

2

0.18

2

0.17

CUI:	C1842060
Disease:	Prominent supraorbital ridges

Prominent supraorbital ridges

7

10

2

0.17

2

0.13

CUI:	C1868571
Disease:	Highly arched eyebrow

Highly arched eyebrow

15

14

3

0.16

2

0.11

CUI:	C1836996
Disease:	Disproportionate tall stature

Disproportionate tall stature

8

17

2

0.15

2

9.1E-02

CUI:	C0020490
Disease:	Hyperopia

16

17

3

0.15

3

0.14

CUI:	C0041974
Disease:	Urethral Stenosis

Urethral Stenosis

1

1

1

0.14

1

0.14

CUI:	C0233283
Disease:	Complete breech presentation

Complete breech presentation

1

1

1

0.14

1

0.14

CUI:	C0265837
Disease:	Congenital hypoplasia of tricuspid valve

Congenital hypoplasia of tricuspid valve

1

0

1

0.14

0

0

CUI:	C0265881
Disease:	Congenital hypoplasia of aortic arch

Congenital hypoplasia of aortic arch

1

0

1

0.14

0

0

CUI:	C0266121
Disease:	Congenital absence of uvula

Congenital absence of uvula

1

1

1

0.14

1

0.14

CUI:	C0405124
Disease:	Nuchal Cord

1

1

1

0.14

1

0.14

CUI:	C0549400
Disease:	Low APGAR score

Low APGAR score

1

1

1

0.14

1

0.14

CUI:	C0729582
Disease:	Floating-harbor syndrome

Floating-harbor syndrome

1

6

1

0.14

1

8.3E-02

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

9

10

2

0.14

1

6.2E-02

CUI:	C0871976
Disease:	facial features

facial features

1

0

1

0.14

0

0

CUI:	C1835570
Disease:	Hypoplastic cervical vertebrae

Hypoplastic cervical vertebrae

1

1

1

0.14

1

0.14

CUI:	C1836383
Disease:	SPINOCEREBELLAR ATAXIA 27

SPINOCEREBELLAR ATAXIA 27

1

0

1

0.14

0

0

CUI:	C1836791
Disease:	Tortuous cerebral arteries

Tortuous cerebral arteries

1

1

1

0.14

1

0.14

CUI:	C1849311
Disease:	Short 1st metacarpal

Short 1st metacarpal

1

0

1

0.14

0

0

CUI:	C1864903
Disease:	Hyperinsulinemic hypoglycemia

Hyperinsulinemic hypoglycemia

1

0

1

0.14

0

0

CUI:	C1866246
Disease:	Sparse anterior scalp hair

Sparse anterior scalp hair

1

0

1

0.14

0

0