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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
88 6387 38 0.11 115 1.6E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
179 70 39 8.6E-02 22 2.5E-02
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome
4 25 3 9.6E-03 22 2.7E-02
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL
1 22 1 3.2E-03 20 2.4E-02
Cafe-au-lait macules with pulmonary stenosis
3 18 2 6.4E-03 18 2.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
8621 1641 275 3.2E-02 14 5.7E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
10161 1644 285 2.8E-02 14 5.7E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
8221 1374 270 3.3E-02 14 6.4E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma
2462 103 172 6.6E-02 12 1.3E-02
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
135 16 101 0.29 11 1.3E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
74 32 27 7.5E-02 9 1.1E-02
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
6 12 6 1.9E-02 8 9.6E-03
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple
61 13 17 4.8E-02 7 8.4E-03
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma
22 9 17 5.4E-02 6 7.2E-03
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
1740 865 130 6.8E-02 5 3.0E-03
CUI: C0027830
Disease: neurofibroma
neurofibroma
125 5 72 0.20 5 6.0E-03
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
538 154 91 0.12 5 5.1E-03
Hereditary Nonpolyposis Colorectal Cancer
174 1331 44 1.0E-01 5 2.3E-03
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling
1 7 1 3.2E-03 5 6.0E-03
CUI: C1860334
Disease: Lisch nodules
Lisch nodules
1 5 1 3.2E-03 5 6.0E-03
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
985 59 124 0.11 4 4.5E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
6941 3417 256 3.7E-02 4 9.4E-04
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
862 115 117 0.11 4 4.3E-03
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
85 187 22 5.9E-02 4 4.0E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
2438 563 148 5.7E-02 4 2.9E-03