DisGeNET - a database of gene-disease associations

Exophthalmos, C0015300

N. genes: 7; N. variants: 10

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:	C1837402
Disease:	Flat occiput

5

6

2

0.20

1

6.7E-02

CUI:	C0001193
Disease:	Apert syndrome

1

14

1

0.14

1

4.3E-02

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

1

151

1

0.14

1

6.3E-03

CUI:	C0158465
Disease:	Acquired cubitus valgus

Acquired cubitus valgus

1

1

1

0.14

1

1.0E-01

CUI:	C0238506
Disease:	Congenital posterior urethral valves

Congenital posterior urethral valves

1

0

1

0.14

0

0

CUI:	C0265211
Disease:	Marshall-Smith syndrome

Marshall-Smith syndrome

1

0

1

0.14

0

0

CUI:	C0549397
Disease:	Deviated nasal septum

Deviated nasal septum

1

0

1

0.14

0

0

CUI:	C0584837
Disease:	Choanal stenosis

Choanal stenosis

1

2

1

0.14

1

9.1E-02

CUI:	C0857379
Disease:	Abnormality of the pinna

Abnormality of the pinna

9

9

2

0.14

1

5.6E-02

CUI:	C0917713
Disease:	Becker Muscular Dystrophy

Becker Muscular Dystrophy

1

28

1

0.14

1

2.7E-02

CUI:	C1510455
Disease:	Acrocephalosyndactylia

Acrocephalosyndactylia

1

0

1

0.14

0

0

CUI:	C1833145
Disease:	Distal ulnar hypoplasia

Distal ulnar hypoplasia

1

1

1

0.14

1

1.0E-01

CUI:	C1835194
Disease:	Thick corpus callosum

Thick corpus callosum

1

1

1

0.14

1

1.0E-01

CUI:	C1835465
Disease:	Short stature, postnatal

Short stature, postnatal

1

3

1

0.14

1

8.3E-02

CUI:	C1839125
Disease:	Say Meyer syndrome

Say Meyer syndrome

1

0

1

0.14

0

0

CUI:	C1840309
Disease:	Short 4th metacarpal

Short 4th metacarpal

1

1

1

0.14

1

1.0E-01

CUI:	C1848977
Disease:	Short upper lip

Short upper lip

1

1

1

0.14

1

1.0E-01

CUI:	C1852406
Disease:	Cutis Gyrata Syndrome of Beare And Stevenson

Cutis Gyrata Syndrome of Beare And Stevenson

1

13

1

0.14

2

9.5E-02

CUI:	C1855578
Disease:	Exercise-induced muscle cramps

Exercise-induced muscle cramps

1

0

1

0.14

0

0

CUI:	C1855579
Disease:	Exercise-induced muscle stiffness

Exercise-induced muscle stiffness

1

0

1

0.14

0

0

CUI:	C1857484
Disease:	Brachyturricephaly

Brachyturricephaly

1

2

1

0.14

1

9.1E-02

CUI:	C1859923
Disease:	Freckles in sun-exposed areas

Freckles in sun-exposed areas

1

1

1

0.14

1

1.0E-01

CUI:	C1865070
Disease:	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

1

9

1

0.14

1

5.6E-02

CUI:	C1867563
Disease:	CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT

CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT

1

0

1

0.14

0

0

CUI:	C1867564
Disease:	SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY

SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY

1

0

1

0.14

0

0