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: C1845672
Disease: Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 63 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 3 0.710 None 1.000 2 3 2002 2003
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 4 0.510 moderate 1.000 3 1998 2002
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.100 None 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 15 4 0.100 None 0
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 2 0.300 moderate 1.000 7 2002 2016
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 31 2 0.100 None 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		disease Anatomical Abnormality 32 0.100 None 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 34 1 0.100 None 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		phenotype Finding 35 1 0.100 None 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 0.100 None 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		phenotype Finding 40 0.100 None 0
CUI: C0282126
Disease: Depression, Neurotic
Depression, Neurotic 		disease Mental Disorders Mental or Behavioral Dysfunction 41 0.300 None 1.000 1 2004 2004
CUI: C0003865
Disease: Arthritis, Adjuvant-Induced
Arthritis, Adjuvant-Induced 		disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 1 2008 2008
CUI: C0971858
Disease: Arthritis, Collagen-Induced
Arthritis, Collagen-Induced 		disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 1 2008 2008
CUI: C0993582
Disease: Arthritis, Experimental
Arthritis, Experimental 		disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 1 2008 2008
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.330 None 0.750 4 2002 2009
CUI: C0086133
Disease: Depressive Syndrome
Depressive Syndrome 		disease Mental Disorders Mental or Behavioral Dysfunction 45 3 0.300 None 1.000 1 2004 2004
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 51 314 0.030 None 0.667 3 1998 2010
CUI: C0025193
Disease: Melancholia
Melancholia 		disease Mental Disorders Mental or Behavioral Dysfunction 51 8 0.300 None 1.000 1 2004 2004
CUI: C0011573
Disease: Endogenous depression
Endogenous depression 		disease Mental Disorders Mental or Behavioral Dysfunction 53 0.300 None 1.000 1 2004 2004
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		phenotype Finding 57 4 0.100 None 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.010 None 1.000 1 2010 2010
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 63 0.100 None 0