Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
2 0 2 1.00 0 0
CUI: C0036503
Disease: Sebaceous Gland Neoplasms
Sebaceous Gland Neoplasms
3 0 1 0.25 0 0
CUI: C0153619
Disease: Malignant neoplasm of ureter
Malignant neoplasm of ureter
3 0 1 0.25 0 0
CUI: C1833970
Disease: COLORECTAL CANCER, SOMATIC
COLORECTAL CANCER, SOMATIC
3 0 1 0.25 0 0
CUI: C1834728
Disease: Malignant genitourinary tract tumor
Malignant genitourinary tract tumor
3 0 1 0.25 0 0
CUI: C0334092
Disease: Hamartomatous polyp
Hamartomatous polyp
4 0 1 0.20 0 0
CUI: C0862448
Disease: Stage IV Renal Cell Cancer
Stage IV Renal Cell Cancer
4 0 1 0.20 0 0
CUI: C0153425
Disease: Malignant tumor of small intestine
Malignant tumor of small intestine
11 0 2 0.18 0 0
CUI: C0600079
Disease: Ureter Carcinoma
Ureter Carcinoma
5 0 1 0.17 0 0
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma
5 0 1 0.17 0 0
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
6 0 1 0.14 0 0
CUI: C3842001
Disease: Adult only
Adult only
6 0 1 0.14 0 0
Constitutional Mismatch Repair Deficiency Syndrome
6 0 1 0.14 0 0
Microsatellite instability-high solid malignant tumor
7 0 1 0.12 0 0
CUI: C0238196
Disease: Small intestine carcinoma
Small intestine carcinoma
17 0 2 0.12 0 0
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
8 0 1 0.11 0 0
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
Childhood Gliomatosis Cerebri
9 0 1 1.0E-01 0 0
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma
9 0 1 1.0E-01 0 0
Familial Atypical Multiple Mole-Melanoma
10 0 1 9.1E-02 0 0
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome
10 0 1 9.1E-02 0 0
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri
10 0 1 9.1E-02 0 0
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
10 0 1 9.1E-02 0 0
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma
11 0 1 8.3E-02 0 0
Colorectal cancer, hereditary nonpolyposis, type 1
24 179 2 8.3E-02 3 1.2E-02
Hereditary nonpolyposis colorectal carcinoma
28 5 2 7.1E-02 1 1.2E-02