DisGeNET - a database of gene-disease associations

Congenital small ears, C0152423

N. genes: 137; N. variants: 13

Source: ALL

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:	C0231255
Disease:	Decreased body mass index

Decreased body mass index

3

3

2

1.4E-02

3

0.23

CUI:	C1855514
Disease:	Severe failure to thrive

Severe failure to thrive

14

4

2

1.3E-02

3

0.21

CUI:	C1855670
Disease:	Abnormal cornea morphology

Abnormal cornea morphology

9

4

2

1.4E-02

3

0.21

CUI:	C1857790
Disease:	Thoracic scoliosis

Thoracic scoliosis

23

5

3

1.9E-02

3

0.20

CUI:	C1867114
Disease:	Craniofacial disproportion

Craniofacial disproportion

9

5

3

2.1E-02

3

0.20

CUI:	C1848701
Disease:	Elevated hepatic transaminase

Elevated hepatic transaminase

212

9

6

1.7E-02

3

0.16

CUI:	C0410266
Disease:	Contracture of hamstring(s)

Contracture of hamstring(s)

6

2

1

7.0E-03

2

0.15

CUI:	C1850573
Disease:	Slender build

31

2

2

1.2E-02

2

0.15

CUI:	C1868549
Disease:	Marked delay in bone age

Marked delay in bone age

3

2

1

7.2E-03

2

0.15

CUI:	C2674177
Disease:	Areflexia of upper limbs

Areflexia of upper limbs

2

2

1

7.2E-03

2

0.15

CUI:	C4023333
Disease:	Abnormality of corneal thickness

Abnormality of corneal thickness

1

2

1

7.3E-03

2

0.15

CUI:	C4023338
Disease:	Profound sensorineural hearing impairment

Profound sensorineural hearing impairment

10

2

2

1.4E-02

2

0.15

CUI:	C4476788
Disease:	Decreased CSF 5-hydroxyindolacetic acid

Decreased CSF 5-hydroxyindolacetic acid

2

2

1

7.2E-03

2

0.15

CUI:	C0029131
Disease:	Abnormality of the optic nerve

Abnormality of the optic nerve

18

11

3

2.0E-02

3

0.14

CUI:	C0432040
Disease:	Simple syndactyly of toes, first web space

Simple syndactyly of toes, first web space

5

3

2

1.4E-02

2

0.14

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

19

11

3

2.0E-02

3

0.14

CUI:	C1843496
Disease:	Bilateral microphthalmos

Bilateral microphthalmos

35

11

6

3.6E-02

3

0.14

CUI:	C1868578
Disease:	Patellar aplasia

Patellar aplasia

17

3

7

4.8E-02

2

0.14

CUI:	C4225188
Disease:	MEIER-GORLIN SYNDROME 6

MEIER-GORLIN SYNDROME 6

1

3

1

7.3E-03

2

0.14

CUI:	C0545053
Disease:	Advanced bone age

Advanced bone age

64

4

5

2.6E-02

2

0.13

CUI:	C1848673
Disease:	Hypoplastic feet

Hypoplastic feet

129

21

19

7.7E-02

4

0.13

CUI:	C1849025
Disease:	Oval face

14

4

3

2.0E-02

2

0.13

CUI:	C1854408
Disease:	Glabellar hemangioma

Glabellar hemangioma

6

4

2

1.4E-02

2

0.13

CUI:	C1856694
Disease:	Areflexia of lower limbs

Areflexia of lower limbs

24

4

1

6.3E-03

2

0.13

CUI:	C1859455
Disease:	Small anterior fontanelle

Small anterior fontanelle

11

4

5

3.5E-02

2

0.13