DisGeNET - a database of gene-disease associations

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY, C1856058

N. genes: 5; N. variants: 78

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:	C1856061
Disease:	Methylenetetrahydrofolate reductase deficiency

Methylenetetrahydrofolate reductase deficiency

5

4

5

1.00

4

5.1E-02

CUI:	C0011057
Disease:	Hearing Loss, Sudden

Hearing Loss, Sudden

1

0

1

0.20

0

0

CUI:	C0241950
Disease:	Intestinal infarction

Intestinal infarction

1

1

1

0.20

1

1.3E-02

CUI:	C0270639
Disease:	Lateral Sinus Thrombosis

Lateral Sinus Thrombosis

1

1

1

0.20

1

1.3E-02

CUI:	C0340324
Disease:	Silent myocardial infarction

Silent myocardial infarction

1

1

1

0.20

1

1.3E-02

CUI:	C0393992
Disease:	Multicystic Encephalomalacia

Multicystic Encephalomalacia

1

1

1

0.20

1

1.3E-02

CUI:	C0856862
Disease:	Posterior cerebral artery occlusion

Posterior cerebral artery occlusion

1

1

1

0.20

1

1.3E-02

CUI:	C0861461
Disease:	Stage IV Colon Carcinoma

Stage IV Colon Carcinoma

1

1

1

0.20

1

1.3E-02

CUI:	C1739111
Disease:	Fetus affected by placental transfer of anticonvulsant

Fetus affected by placental transfer of anticonvulsant

1

2

1

0.20

1

1.3E-02

CUI:	C1856059
Disease:	Mthfr Deficiency, Thermolabile Type

Mthfr Deficiency, Thermolabile Type

1

0

1

0.20

0

0

CUI:	C2217040
Disease:	malignant neoplasm of large intestine stage IV

malignant neoplasm of large intestine stage IV

1

1

1

0.20

1

1.3E-02

CUI:	C3536740
Disease:	Cervical meningomyelocele

Cervical meningomyelocele

1

1

1

0.20

1

1.3E-02

CUI:	C3825293
Disease:	Headache in children

Headache in children

1

1

1

0.20

1

1.3E-02

CUI:	C4017062
Disease:	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

1

6

1

0.20

5

6.3E-02

CUI:	C4022034
Disease:	Abnormality of vitamin E metabolism

Abnormality of vitamin E metabolism

1

0

1

0.20

0

0

CUI:	C4024686
Disease:	Abnormality of vitamin A metabolism

Abnormality of vitamin A metabolism

1

0

1

0.20

0

0

CUI:	C4302205
Disease:	Neonatal thrombosis of cerebral venous sinus

Neonatal thrombosis of cerebral venous sinus

1

2

1

0.20

1

1.3E-02

CUI:	C4303479
Disease:	Homocystinuria without methylmalonic aciduria

Homocystinuria without methylmalonic aciduria

1

0

1

0.20

0

0

CUI:	C4310747
Disease:	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5

1

0

1

0.20

0

0

CUI:	C4525128
Disease:	Stage IV Colon Cancer AJCC v8

Stage IV Colon Cancer AJCC v8

1

1

1

0.20

1

1.3E-02

CUI:	C4751204
Disease:	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

1

0

1

0.20

0

0

CUI:	C0014670
Disease:	Equinus Deformity

Equinus Deformity

2

0

1

0.17

0

0

CUI:	C0264964
Disease:	Aneurysm of popliteal artery

Aneurysm of popliteal artery

2

0

1

0.17

0

0

CUI:	C0268611
Disease:	Arakawa syndrome 2

Arakawa syndrome 2

2

1

1

0.17

1

1.3E-02

CUI:	C0343525
Disease:	Lemierre Syndrome

Lemierre Syndrome

2

0

1

0.17

0

0