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: C1845543
Disease: Mental Retardation, X-Linked, with Epilepsy
Mental Retardation, X-Linked, with Epilepsy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 3 2 2002 2013
CUI: C3806722
Disease: PARKINSONISM WITH SPASTICITY, X-LINKED
PARKINSONISM WITH SPASTICITY, X-LINKED 		disease Disease or Syndrome 1 1 0.710 None 1.000 1 1 2013 2013
CUI: C0234505
Disease: Tactile Agnosia
Tactile Agnosia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 0.100 None 0
CUI: C1328618
Disease: Agraphesthesia
Agraphesthesia 		disease Mental or Behavioral Dysfunction 1 0.100 None 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		phenotype Finding 4 0.100 None 0
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		phenotype Finding 5 1 0.100 None 0
CUI: C4268741
Disease: Age-related sarcopenia
Age-related sarcopenia 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C4551893
Disease: Toxemia of pregnancy
Toxemia of pregnancy 		disease Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0151773
Disease: Bone marrow depression
Bone marrow depression 		disease Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C4552482
Disease: CSSSI
CSSSI 		disease Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C0332915
Disease: Congenital failure of fusion
Congenital failure of fusion 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 11 0.010 None 1.000 1 2019 2019
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C3888461
Disease: Dry age-related macular degeneration
Dry age-related macular degeneration 		phenotype Anatomical Abnormality 11 1 0.010 None 1.000 1 2009 2009
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 11 0.100 None 0
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 0.100 None 0
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		disease Anatomical Abnormality 12 2 0.100 None 0
CUI: C0597048
Disease: Neurogenic hypertension
Neurogenic hypertension 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.010 None < 0.001 1 2018 2018
CUI: C0085167
Disease: Granular cell tumor
Granular cell tumor 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype Finding 19 1 0.100 None 0
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 43 0.010 None 1.000 1 2018 2018
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 24 1 0.100 None 0
CUI: C0025945
Disease: Microangiopathy, Diabetic
Microangiopathy, Diabetic 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 29 4 0.010 None 1.000 1 2019 2019
CUI: C0007192
Disease: Cardiomyopathy, Alcoholic
Cardiomyopathy, Alcoholic 		disease Chemically-Induced Disorders; Cardiovascular Diseases Disease or Syndrome 30 0.020 None 1.000 2 2019 2019