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: C0427032
Disease: Ankle stiff
Ankle stiff 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2020 2020
CUI: C1542667
Disease: Congenital erythroid hypoplasia
Congenital erythroid hypoplasia 		disease Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation 		disease Congenital Abnormality 3 0.010 None 1.000 1 2000 2000
CUI: C1855229
Disease: Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia, Sedaghatian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2018 2018
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2019 2019
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 1997 1997
CUI: C0423319
Disease: Atrophic iris
Atrophic iris 		disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C0741237
Disease: arthritis symptoms
arthritis symptoms 		disease Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 13 0.030 None 1.000 3 2010 2018
CUI: C0154823
Disease: Retinal defect
Retinal defect 		phenotype Eye Diseases Anatomical Abnormality 13 0.010 None 1.000 1 2017 2017
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		disease Eye Diseases Disease or Syndrome 15 1 0.020 None 1.000 2 2017 2018
CUI: C0683357
Disease: Excessive drinking
Excessive drinking 		phenotype Mental or Behavioral Dysfunction 15 1 0.010 None 1.000 1 2017 2017
CUI: C0028841
Disease: Ocular Hypotension
Ocular Hypotension 		disease Eye Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2012 2012
CUI: C0156259
Disease: Hypertrophy of kidney
Hypertrophy of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.010 None 1.000 1 2018 2018
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic 		disease Nervous System Diseases Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0683381
Disease: inflammatory joint disease
inflammatory joint disease 		disease Disease or Syndrome 33 0.010 None 1.000 1 2017 2017
CUI: C0007370
Disease: Catalepsy
Catalepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 0.010 None 1.000 1 1999 1999
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 49 7 0.010 None 1.000 1 2018 2018
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.010 None 1.000 1 2018 2018
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.010 None 1.000 1 2019 2019
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.010 None 1.000 1 2017 2017
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.010 None 1.000 1 2019 2019
CUI: C0006370
Disease: Bulimia
Bulimia 		disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 76 30 0.010 None 1.000 1 2018 2018
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.010 None 1.000 1 2018 2018
CUI: C0595936
Disease: Aqueous Humor Disorders
Aqueous Humor Disorders 		disease Eye Diseases Disease or Syndrome 85 1 0.010 None 1.000 1 2014 2014