DisGeNET - a database of gene-disease associations

Neurofibromatosis 1, C0027831

N. genes: 1; N. variants: 764

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:	C0027830
Disease:	neurofibroma

1

1

1

1.00

1

1.3E-03

CUI:	C0206728
Disease:	Plexiform Neurofibroma

Plexiform Neurofibroma

1

4

1

1.00

3

3.9E-03

CUI:	C0221252
Disease:	Eruptive xanthoma

Eruptive xanthoma

1

1

1

1.00

1

1.3E-03

CUI:	C0553586
Disease:	Cafe-au-lait macules with pulmonary stenosis

Cafe-au-lait macules with pulmonary stenosis

1

18

1

1.00

18

2.4E-02

CUI:	C1827970
Disease:	Neurofibroma of subcutaneous tissue

Neurofibroma of subcutaneous tissue

1

3

1

1.00

3

3.9E-03

CUI:	C1834235
Disease:	NEUROFIBROMATOSIS, FAMILIAL SPINAL

NEUROFIBROMATOSIS, FAMILIAL SPINAL

1

22

1

1.00

19

2.5E-02

CUI:	C1834297
Disease:	Inguinal freckling

Inguinal freckling

1

7

1

1.00

5

6.5E-03

CUI:	C1860334
Disease:	Lisch nodules

1

5

1

1.00

5

6.5E-03

CUI:	C1860335
Disease:	Axillary freckling

Axillary freckling

1

12

1

1.00

8

1.0E-02

CUI:	C1861975
Disease:	Cafe au lait spots, multiple

Cafe au lait spots, multiple

1

13

1

1.00

7

9.1E-03

CUI:	C2931482
Disease:	Neurofibromatosis-Noonan syndrome

Neurofibromatosis-Noonan syndrome

1

22

1

1.00

21

2.7E-02

CUI:	C4024216
Disease:	Tibial pseudoarthrosis

Tibial pseudoarthrosis

1

0

1

1.00

0

0

CUI:	C4024217
Disease:	Spinal neurofibromas

Spinal neurofibromas

1

2

1

1.00

1

1.3E-03

CUI:	C4025174
Disease:	Large cafe-au-lait macules with irregular margins

Large cafe-au-lait macules with irregular margins

1

1

1

1.00

1

1.3E-03

CUI:	C0042063
Disease:	Urogenital Abnormalities

Urogenital Abnormalities

2

3

1

0.50

1

1.3E-03

CUI:	C0162678
Disease:	Neurofibromatoses

Neurofibromatoses

2

11

1

0.50

6

7.8E-03

CUI:	C0206716
Disease:	Ganglioglioma

2

2

1

0.50

1

1.3E-03

CUI:	C0206729
Disease:	Neurofibrosarcoma

Neurofibrosarcoma

2

2

1

0.50

1

1.3E-03

CUI:	C0346326
Disease:	Optic Nerve Glioma

Optic Nerve Glioma

2

8

1

0.50

5

6.5E-03

CUI:	C0553580
Disease:	Ewings sarcoma

2

2

1

0.50

1

1.3E-03

CUI:	C3805239
Disease:	Mid aortic syndrome

Mid aortic syndrome

2

3

1

0.50

2

2.6E-03

CUI:	C0349636
Disease:	Pre B-cell acute lymphoblastic leukemia

Pre B-cell acute lymphoblastic leukemia

3

3

1

0.33

1

1.3E-03

CUI:	C4024926
Disease:	Focal T2 hyperintense basal ganglia lesion

Focal T2 hyperintense basal ganglia lesion

3

3

1

0.33

1

1.3E-03

CUI:	C0334583
Disease:	Pilocytic Astrocytoma

Pilocytic Astrocytoma

4

0

1

0.25

0

0

CUI:	C1857790
Disease:	Thoracic scoliosis

Thoracic scoliosis

4

5

1

0.25

1

1.3E-03