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: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 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: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C4073228
Disease: Abnormality of buccal mucosa
Abnormality of buccal mucosa 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		disease Anatomical Abnormality 8 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: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		disease Cardiovascular Diseases Anatomical Abnormality 16 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		phenotype Finding 16 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.100 None 0 1
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.100 None 0
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 293 28 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 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