Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4 		disease Disease or Syndrome 1 0.500 limited 0
CUI: C4073228
Disease: Abnormality of buccal mucosa
Abnormality of buccal mucosa 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C2676500
Disease: COWDEN-LIKE SYNDROME (disorder)
COWDEN-LIKE SYNDROME (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2010 2010
CUI: C0334263
Disease: Trichilemmoma
Trichilemmoma 		disease Neoplasms Neoplastic Process 8 4 0.100 None 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4021849
Disease: Conjunctival hamartoma
Conjunctival hamartoma 		disease Disease or Syndrome 10 0.100 None 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		phenotype Finding 16 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 20 2 0.100 None 0
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 23 3 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 36 4 0.100 None 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		disease Stomatognathic Diseases Disease or Syndrome 36 1 0.100 None 0
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		disease Neoplasms; Endocrine System Diseases Disease or Syndrome 51 6 0.010 None < 0.001 1 2017 2017
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group Nervous System Diseases Finding 55 11 0.100 None 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 61 13 0.100 None 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		disease Nervous System Diseases Finding 72 1 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0023798
Disease: Lipoma
Lipoma 		disease Neoplasms Neoplastic Process 87 9 0.100 None 0