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: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		disease Anatomical Abnormality 36 1 0.100 None 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology 		disease Musculoskeletal Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		phenotype Finding 18 0.100 None 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		disease Skin and Connective Tissue Diseases Congenital Abnormality 38 3 0.100 None 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C0410740
Disease: Acquired deformity of finger
Acquired deformity of finger 		disease Musculoskeletal Diseases Acquired Abnormality 5 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2017 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2019 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2019 2019
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1985 1985
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 54 0.100 None 1.000 5 2 1999 2018
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.020 None 1.000 2 2008 2016
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.040 None 1.000 4 2003 2018
CUI: C4022025
Disease: Asymmetric growth
Asymmetric growth 		phenotype Finding 6 0.100 None 0
CUI: C4025314
Disease: Atrophic, patchy alopecia
Atrophic, patchy alopecia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1970879
Disease: ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 2 2 0.700 None 1.000 4 2 2000 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2012 2012
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		disease Disease or Syndrome 81 10 0.010 None 1.000 1 2016 2016
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.020 None 1.000 2 2003 2019