DisGeNET - a database of gene-disease associations

BAINBRIDGE-ROPERS SYNDROME, C3809650

N. genes: 1; N. variants: 17

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:	C0152441
Disease:	Madelung Deformity

Madelung Deformity

1

1

1

1.00

1

5.9E-02

CUI:	C0241521
Disease:	Ulnar deviation of hand

Ulnar deviation of hand

1

2

1

1.00

1

5.6E-02

CUI:	C0267048
Disease:	Glossoptosis

1

1

1

1.00

1

5.9E-02

CUI:	C4022447
Disease:	Abnormality of the tympanic membrane

Abnormality of the tympanic membrane

1

1

1

1.00

1

5.9E-02

CUI:	C4024158
Disease:	Abnormality of the columella

Abnormality of the columella

1

2

1

1.00

2

0.12

CUI:	C4025190
Disease:	Abnormal epiglottis morphology

Abnormal epiglottis morphology

1

1

1

1.00

1

5.9E-02

CUI:	C4073241
Disease:	Abnormality of nasopharyngeal adenoids

Abnormality of nasopharyngeal adenoids

1

1

1

1.00

1

5.9E-02

CUI:	C0040457
Disease:	Tooth, Supernumerary

Tooth, Supernumerary

2

2

1

0.50

1

5.6E-02

CUI:	C0231688
Disease:	Gait, Shuffling

Gait, Shuffling

2

2

1

0.50

1

5.6E-02

CUI:	C1839816
Disease:	Long neck

2

3

1

0.50

1

5.3E-02

CUI:	C1846176
Disease:	Hyperactive deep tendon reflexes

Hyperactive deep tendon reflexes

2

2

1

0.50

1

5.6E-02

CUI:	C3276623
Disease:	Toenail dysplasia

Toenail dysplasia

2

2

1

0.50

1

5.6E-02

CUI:	C4023801
Disease:	Fibular bowing

2

2

1

0.50

1

5.6E-02

CUI:	C4025138
Disease:	Multiple skeletal anomalies

Multiple skeletal anomalies

2

2

1

0.50

1

5.6E-02

CUI:	C0018777
Disease:	Conductive hearing loss

Conductive hearing loss

3

4

1

0.33

1

5.0E-02

CUI:	C2677650
Disease:	Decreased activity of mitochondrial complex I

Decreased activity of mitochondrial complex I

3

0

1

0.33

0

0

CUI:	C4023424
Disease:	Prominent digit pad

Prominent digit pad

4

3

1

0.25

1

5.3E-02

CUI:	C1305740
Disease:	Overbite

5

5

1

0.20

1

4.8E-02

CUI:	C1398312
Disease:	Narrow palate

5

5

1

0.20

1

4.8E-02

CUI:	C1860819
Disease:	Metopic synostosis

Metopic synostosis

5

5

1

0.20

1

4.8E-02

CUI:	C0023221
Disease:	Leg Length Inequality

Leg Length Inequality

6

6

1

0.17

1

4.5E-02

CUI:	C1834055
Disease:	Underdeveloped nasal alae

Underdeveloped nasal alae

6

7

1

0.17

1

4.3E-02

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

6

7

1

0.17

1

4.3E-02

CUI:	C0162635
Disease:	Angelman Syndrome

Angelman Syndrome

7

135

1

0.14

1

6.6E-03

CUI:	C0409348
Disease:	Flexion contracture of proximal interphalangeal joint

Flexion contracture of proximal interphalangeal joint

7

7

1

0.14

1

4.3E-02