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: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
47 0 47 0.94 0 0
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
28 0 6 8.3E-02 0 0
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
29 0 6 8.2E-02 0 0
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
5 0 4 7.8E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
117 0 12 7.7E-02 0 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
15 0 4 6.6E-02 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
16 0 4 6.5E-02 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
16 0 4 6.5E-02 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
17 0 4 6.3E-02 0 0
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome
4 0 3 5.9E-02 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
50 0 5 5.3E-02 0 0
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine
12 0 3 5.1E-02 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
14 0 3 4.9E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
15 0 3 4.8E-02 0 0
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
38 0 4 4.8E-02 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
39 122 4 4.7E-02 1 4.1E-03
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
18 0 3 4.6E-02 0 0
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
43 0 4 4.5E-02 0 0
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
43 0 4 4.5E-02 0 0
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
43 0 4 4.5E-02 0 0
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
43 0 4 4.5E-02 0 0
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
43 0 4 4.5E-02 0 0
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
46 0 4 4.3E-02 0 0
Hereditary Paraganglioma-Pheochromocytoma Syndrome
23 98 3 4.3E-02 29 0.15
Hereditary non-polyposis colorectal cancer syndrome
27 0 3 4.1E-02 0 0