ESD, esterase D, 2098

N. diseases: 48; N. variants: 2
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: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		disease Neoplasms; Eye Diseases Neoplastic Process 6 0.010 None 1.000 1 1988 1988
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 7 0.010 None 1.000 1 1984 1984
CUI: C4749304
Disease: Monosomy 13q14 syndrome
Monosomy 13q14 syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 0.010 None 1.000 1 1987 1987
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 12 4 0.040 None 1.000 4 1983 1988
CUI: C1761609
Disease: Aspiration pneumonitis
Aspiration pneumonitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		disease Disease or Syndrome 14 0.010 None 1.000 1 1993 1993
CUI: C0152095
Disease: Patau syndrome
Patau syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 1993 1993
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 32 4 0.010 None 1.000 1 2017 2017
CUI: C0003129
Disease: Anoxemia
Anoxemia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 None 1.000 1 2009 2009
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.300 None 1.000 1 2009 2009
CUI: C0242184
Disease: Hypoxia
Hypoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.300 None 1.000 1 2009 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C0349530
Disease: Early gastric cancer
Early gastric cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 100 2 0.040 None 1.000 4 2017 2019
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.010 None 1.000 1 2019 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 0.100 None 0.923 13 1985 2019
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 1981 1981
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.010 None 1.000 1 2008 2008
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.300 None 1.000 1 2009 2009
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2019 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.010 None 1.000 1 1995 1995
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2019 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 1987 1987
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2018 2018
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 1990 1990
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.100 None 0.947 38 1980 2009