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: C0866036
Disease: Postoperative peritoneal adhesions
Postoperative peritoneal adhesions 		disease Acquired Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C1265884
Disease: Eggshell calcium deposition
Eggshell calcium deposition 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 62 0.010 None 1.000 1 2009 2009
CUI: C4049259
Disease: Hormone refractory breast cancer
Hormone refractory breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C4289709
Disease: DOCK8 Deficiency
DOCK8 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 0.010 None 1.000 1 2013 2013
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 1998 1998
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 2001 2001
CUI: C0278493
Disease: Breast cancer recurrent
Breast cancer recurrent 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.010 None 1.000 1 2019 2019
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.010 None 1.000 1 1995 1995
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 1992 1992
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 1985 1985
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.010 None 1.000 1 1988 1988
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2017 2017
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2014 2014
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 83 2 0.010 None 1.000 1 1988 1988
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C0002382
Disease: Alveolar Bone Loss
Alveolar Bone Loss 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 101 0.010 None 1.000 1 2015 2015
CUI: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2002 2002
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 0.010 None 1.000 1 2002 2002
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.010 None 1.000 1 1985 1985
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 127 83 0.010 None 1.000 1 1978 1978
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2011 2011
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		disease Neoplasms Neoplastic Process 151 1 0.010 None 1.000 1 1995 1995
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2017 2017
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.010 None 1.000 1 2019 2019