ELMO1, engulfment and cell motility 1, 9844

N. diseases: 72; N. variants: 31
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: C0337432
Disease: Androstenedione measurement
Androstenedione measurement 		phenotype Laboratory Procedure 5 9 0.100 None 1.000 1 1 2017 2017
CUI: C3658301
Disease: Mycoplasma-Induced Stevens-Johnson Syndrome
Mycoplasma-Induced Stevens-Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 30 0.300 None 1.000 1 2015 2015
CUI: C1274933
Disease: Drug-Induced Stevens Johnson Syndrome
Drug-Induced Stevens Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 31 0.300 None 1.000 1 2015 2015
CUI: C3658302
Disease: Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 50 1 0.300 None 1.000 1 2015 2015
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.010 None 1.000 1 2016 2016
CUI: C0017667
Disease: Nodular glomerulosclerosis
Nodular glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2007 2007
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 67 16 0.300 None 1.000 1 2015 2015
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2019 2019
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.100 None 1.000 1 1 2011 2011
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 1 2016 2016
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 143 29 0.300 None 1.000 1 2015 2015
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.010 None 1.000 1 2019 2019
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2010 2010
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.010 None 1.000 1 2016 2016
CUI: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None 1.000 1 2017 2017
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.100 None 1.000 1 1 2009 2009
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2013 2013
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.100 None 1.000 1 1 2011 2011
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.300 None 1.000 1 2013 2013
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.100 None 1.000 2 2 2011 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.010 None 1.000 1 2019 2019