SHROOM3, shroom family member 3, 57619

N. diseases: 40; N. variants: 30
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: C0428279
Disease: Finding of creatinine level
Finding of creatinine level
phenotype Finding 5 5 0.100 None 1.000 1 1 2010 2010
CUI: C0373675
Disease: Magnesium measurement
Magnesium measurement
phenotype Laboratory Procedure 7 22 0.100 None 1.000 1 1 2010 2010
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement
phenotype Laboratory Procedure 14 24 0.100 None 1.000 1 1 2017 2017
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 12 0.100 None 1.000 1 1 2016 2016
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 30 32 0.100 None 1.000 1 1 2019 2019
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 39 8 0.010 None 1.000 1 2011 2011
Alanine aminotransferase measurement
phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2018 2018
Serum Alanine Aminotransferase Measurement
phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2018 2018
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2016 2016
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.310 moderate 1.000 1 2011 2011
Chronic rejection of renal transplant
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 1 0.010 None 1.000 1 2015 2015
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2016 2016
CUI: C0001925
Disease: Albuminuria
Albuminuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 76 59 0.100 None 1.000 1 1 2018 2018
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 1 1 2019 2019
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 5 3 2010 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 2 2 2016 2016
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.100 None 1.000 1 1 2010 2010
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.010 None 1.000 1 2010 2010
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.010 None 1.000 1 2010 2010
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 1.000 1 1 2017 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.330 moderate 1.000 3 2015 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2014 2014
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 9 9 2013 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019