DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

N. genes: 2; N. variants: 157

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:	C0023269
Disease:	leiomyosarcoma

1

1

1

0.50

1

6.4E-03

CUI:	C0023473
Disease:	Myeloid Leukemia, Chronic

Myeloid Leukemia, Chronic

5

26

1

0.17

1

5.5E-03

CUI:	C0025202
Disease:	melanoma

25

129

1

3.8E-02

1

3.5E-03

CUI:	C0030312
Disease:	Pancytopenia

9

9

1

1.0E-01

1

6.1E-03

CUI:	C0040034
Disease:	Thrombocytopenia

Thrombocytopenia

35

45

1

2.8E-02

1

5.0E-03

CUI:	C0206624
Disease:	Hepatoblastoma

3

5

1

0.25

1

6.2E-03

CUI:	C0206754
Disease:	Neuroendocrine Tumors

Neuroendocrine Tumors

2

4

1

0.33

1

6.3E-03

CUI:	C0221217
Disease:	Neck webbing

11

19

1

8.3E-02

1

5.7E-03

CUI:	C0238461
Disease:	Anaplastic thyroid carcinoma

Anaplastic thyroid carcinoma

1

1

1

0.50

1

6.4E-03

CUI:	C0279702
Disease:	Conventional (Clear Cell) Renal Cell Carcinoma

Conventional (Clear Cell) Renal Cell Carcinoma

9

12

1

1.0E-01

1

6.0E-03

CUI:	C0302592
Disease:	Cervix carcinoma

Cervix carcinoma

2

7

1

0.33

1

6.1E-03

CUI:	C0334586
Disease:	Pleomorphic Xanthoastrocytoma

Pleomorphic Xanthoastrocytoma

1

1

1

0.50

1

6.4E-03

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

26

25

1

3.7E-02

1

5.5E-03

CUI:	C0346011
Disease:	Fibrofolliculoma

Fibrofolliculoma

1

1

1

0.50

1

6.4E-03

CUI:	C0349588
Disease:	Short stature

190

292

1

5.2E-03

1

2.2E-03

CUI:	C0376358
Disease:	Malignant neoplasm of prostate

Malignant neoplasm of prostate

12

72

1

7.7E-02

1

4.4E-03

CUI:	C0431109
Disease:	Choroid Plexus Carcinoma

Choroid Plexus Carcinoma

1

1

1

0.50

1

6.4E-03

CUI:	C0546837
Disease:	Malignant neoplasm of esophagus

Malignant neoplasm of esophagus

3

3

1

0.25

1

6.3E-03

CUI:	C0549473
Disease:	Thyroid carcinoma

Thyroid carcinoma

4

4

1

0.20

1

6.3E-03

CUI:	C0578878
Disease:	Inflammation of large intestine

Inflammation of large intestine

1

1

1

0.50

1

6.4E-03

CUI:	C0684249
Disease:	Carcinoma of lung

Carcinoma of lung

11

28

2

0.18

1

5.4E-03

CUI:	C0699791
Disease:	Stomach Carcinoma

Stomach Carcinoma

3

5

1

0.25

1

6.2E-03

CUI:	C0858252
Disease:	Breast adenocarcinoma

Breast adenocarcinoma

3

5

1

0.25

1

6.2E-03

CUI:	C0878638
Disease:	Abnormality of the tongue

Abnormality of the tongue

2

2

1

0.33

1

6.3E-03

CUI:	C1261473
Disease:	Sarcoma

6

6

2

0.33

1

6.2E-03