Source: ALL
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: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 13 21 0.18 2 4.7E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 22 0.16 3 4.7E-04
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 13 0.14 0 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		20 0 11 0.13 0 0
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		63 0 16 0.13 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 15 0.13 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 13 0.13 0 0
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		23 0 11 0.13 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		74 0 16 0.12 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 2 21 0.12 1 3.0E-02
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 11 0.12 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 10 0.12 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 10 0.12 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 10 0.12 0 0
CUI: C1298180
Disease: Single tumor
Single tumor 		63 0 14 0.11 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 10 0.11 0 0
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 10 0.11 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 15 0.11 0 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		17 0 9 0.11 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 14 0.11 0 0
CUI: C1857175
Disease: Episodic hypertension
Episodic hypertension 		8 0 8 0.11 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 10 0.11 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 10 0.11 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 15 0.11 0 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		50 0 12 0.11 0 0