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: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		disease Disease or Syndrome 1 3 0.700 None 1.000 6 3 2013 2015
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		disease Neoplasms Disease or Syndrome 1 5 0.800 strong 1.000 5 5 2013 2017
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.710 strong 1.000 2 1 2015 2019
CUI: C0278714
Disease: stage IV Wilms tumor
stage IV Wilms tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C3472621
Disease: Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement 		disease Neoplastic Process 1 0.300 None 1.000 1 2013 2013
CUI: C3711560
Disease: Pdgfrb-Associated Chronic Eosinophilic Leukemia
Pdgfrb-Associated Chronic Eosinophilic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0262477
Disease: Eye problem
Eye problem 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1856231
Disease: Thin calvarium
Thin calvarium 		phenotype Finding 1 0.100 None 0
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		disease Disease or Syndrome 2 7 0.200 None 0
CUI: C0233715
Disease: Speech impairment
Speech impairment 		phenotype Finding 3 2 0.100 None 0 1
CUI: C1859273
Disease: Dense calcifications in the cerebellar dentate nucleus
Dense calcifications in the cerebellar dentate nucleus 		phenotype Finding 3 0.100 None 0
CUI: C4025703
Disease: Calcification of the small brain vessels
Calcification of the small brain vessels 		phenotype Pathologic Function 3 0.100 None 0
CUI: C0008301
Disease: Choking
Choking 		phenotype Respiratory Tract Diseases Pathologic Function 4 1 0.100 None 0 1
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		disease Anatomical Abnormality 4 3 0.100 None 0
CUI: C0340548
Disease: Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis 		disease Neoplasms; Cardiovascular Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2007 2007
CUI: C0730278
Disease: Severe nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 5 3 0.200 None 0
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease Disease or Syndrome 6 2 0.730 strong 1.000 5 2 2015 2019
CUI: C1302808
Disease: Myopericytoma
Myopericytoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 3 0.030 None 1.000 3 1 2017 2020
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 26 0.300 None 0
CUI: C0334096
Disease: Intimal proliferation
Intimal proliferation 		phenotype Pathologic Function 7 0.200 None 1.000 1 2000 2000
CUI: C1708550
Disease: Intimal sarcoma
Intimal sarcoma 		disease Neoplasms Neoplastic Process 7 1 0.010 None 1.000 1 2017 2017
CUI: C0334280
Disease: Carcinoma, diffuse type
Carcinoma, diffuse type 		phenotype Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2010 2010
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
Myeloproliferative Neoplasm, Unclassifiable 		disease Neoplastic Process 8 3 0.300 None 1.000 1 2007 2007
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 10 3 0.710 strong 1.000 4 2013 2015
CUI: C1368237
Disease: Solitary Myofibromatosis
Solitary Myofibromatosis 		disease Neoplasms Neoplastic Process 11 0.040 None 1.000 4 2017 2019