DisGeNET - a database of gene-disease associations

Anteriorly placed anus, C1838705

N. genes: 5; N. variants: 5

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:	C0085702
Disease:	Monocytosis

1

1

1

0.20

1

0.20

CUI:	C0239935
Disease:	Hematocrit increased

Hematocrit increased

1

1

1

0.20

1

0.20

CUI:	C0268474
Disease:	Hydroxykynureninuria

Hydroxykynureninuria

1

0

1

0.20

0

0

CUI:	C0302845
Disease:	MCV - raised

1

1

1

0.20

1

0.20

CUI:	C0432152
Disease:	Thoracic hemivertebra

Thoracic hemivertebra

1

1

1

0.20

1

0.20

CUI:	C0580316
Disease:	Neutrophil count abnormal

Neutrophil count abnormal

1

1

1

0.20

1

0.20

CUI:	C0580550
Disease:	Lymphocyte count abnormal

Lymphocyte count abnormal

1

1

1

0.20

1

0.20

CUI:	C1389016
Disease:	ATRIOVENTRICULAR CANAL DEFECT

ATRIOVENTRICULAR CANAL DEFECT

1

1

1

0.20

1

0.20

CUI:	C3806688
Disease:	Solute carrier family 35 member A2 congenital disorder of glycosylation

Solute carrier family 35 member A2 congenital disorder of glycosylation

1

12

1

0.20

1

6.2E-02

CUI:	C4072885
Disease:	Increased serum testosterone level

Increased serum testosterone level

1

1

1

0.20

1

0.20

CUI:	C4225378
Disease:	SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY

SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY

1

2

1

0.20

1

0.17

CUI:	C4479654
Disease:	COHEN-GIBSON SYNDROME

COHEN-GIBSON SYNDROME

1

5

1

0.20

1

0.11

CUI:	C4540014
Disease:	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2

1

3

1

0.20

1

0.14

CUI:	C4540355
Disease:	JOUBERT SYNDROME 31

JOUBERT SYNDROME 31

1

0

1

0.20

0

0

CUI:	C0232475
Disease:	Decreased peristalsis

Decreased peristalsis

2

2

1

0.17

1

0.17

CUI:	C0239981
Disease:	Hypoalbuminemia

Hypoalbuminemia

2

2

1

0.17

1

0.17

CUI:	C0332573
Disease:	Macule

2

2

1

0.17

1

0.17

CUI:	C0428282
Disease:	Serum creatinine low

Serum creatinine low

2

2

1

0.17

1

0.17

CUI:	C0431928
Disease:	Congenital overgrowth of lower limb

Congenital overgrowth of lower limb

2

2

1

0.17

1

0.17

CUI:	C0576225
Disease:	Long foot

2

3

1

0.17

1

0.14

CUI:	C0860609
Disease:	Inappropriate crying

Inappropriate crying

2

2

1

0.17

1

0.17

CUI:	C1839972
Disease:	Increased IgM level

Increased IgM level

2

2

1

0.17

1

0.17

CUI:	C1857644
Disease:	Retinal pigment epithelial mottling

Retinal pigment epithelial mottling

2

2

1

0.17

1

0.17

CUI:	C1860130
Disease:	Low alkaline phosphatase

Low alkaline phosphatase

2

7

1

0.17

1

9.1E-02

CUI:	C1866207
Disease:	Dysplastic aortic valve

Dysplastic aortic valve

2

2

1

0.17

1

0.17