Source: CLINVAR ×
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: C0153425
Disease: Malignant tumor of small intestine
Malignant tumor of small intestine 		2 0 2 0.67 0 0
CUI: C0238196
Disease: Small intestine carcinoma
Small intestine carcinoma 		2 0 2 0.67 0 0
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		2 0 2 0.67 0 0
CUI: C4024989
Disease: Hereditary nonpolyposis colorectal carcinoma
Hereditary nonpolyposis colorectal carcinoma 		2 0 2 0.67 0 0
CUI: C4748135
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 		2 0 2 0.67 0 0
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		4 0 2 0.40 0 0
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		1 40 1 0.33 23 0.33
CUI: C0085623
Disease: Akinesia
Akinesia 		1 1 1 0.33 1 1.9E-02
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		1 0 1 0.33 0 0
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		5 0 2 0.33 0 0
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		1 1 1 0.33 1 1.9E-02
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		5 0 2 0.33 0 0
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		1 25 1 0.33 22 0.40
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		1 24 1 0.33 23 0.43
CUI: C0813217
Disease: Expressionless face
Expressionless face 		1 1 1 0.33 1 1.9E-02
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		5 0 2 0.33 0 0
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		1 16 1 0.33 10 0.17
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		1 19 1 0.33 19 0.37
CUI: C2676021
Disease: DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO 		1 2 1 0.33 2 3.8E-02
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		6 0 2 0.29 0 0
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		6 0 2 0.29 0 0
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		6 0 2 0.29 0 0
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		3 11 1 0.20 7 0.12
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		5 6 1 0.14 1 1.8E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 2 0.12 0 0