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: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		disease Disease or Syndrome 1 10 0.710 None 1.000 10 10 2012 2018
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		disease Hemic and Lymphatic Diseases Disease or Syndrome 132 12 0.700 None 0.969 130 2 1993 2019
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		disease Disease or Syndrome 1 10 0.600 None 1.000 5 10 1993 2002
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.400 None 1.000 1 2014 2014
CUI: C0019050
Disease: Hemoglobinuria, Paroxysmal
Hemoglobinuria, Paroxysmal 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.320 None 1.000 4 2002 2006
CUI: C4751570
Disease: Ferro-cerebro-cutaneous syndrome
Ferro-cerebro-cutaneous syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.310 None 1.000 1 2014 2014
CUI: C0086774
Disease: Cold paroxysmal hemoglobinuria
Cold paroxysmal hemoglobinuria 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 2 2005 2006
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.200 None 1.000 12 1996 2018
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 73 1 0.200 None 0
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 15 0.200 None 0
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.170 None 1.000 7 1998 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.130 None 1.000 3 2014 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.120 None 0.500 2 1995 2001
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2014 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype Finding 46 7 0.100 None 0
CUI: C1504438
Disease: Cerebral artery stenosis
Cerebral artery stenosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0