HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
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: C0235950
Disease: Zinc deficiency
Zinc deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 90 4 0.010 None 1.000 1 2019 2019
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0 2
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 24 0.040 None 1.000 4 1985 2015
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 30 0.010 None 1.000 1 2012 2012
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 0 1
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C2188153
Disease: Undifferentiated/Unclassified Sarcoma
Undifferentiated/Unclassified Sarcoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 1989 1989
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0 1
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2012 2012
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.100 None 0
CUI: C2712360
Disease: Severe hypoxic ischemic encephalopathy
Severe hypoxic ischemic encephalopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2002 2002
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2005 2005
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.070 None 0.857 7 1991 2017
CUI: C0035232
Disease: Respiratory Paralysis
Respiratory Paralysis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Finding 13 1 0.100 None 0 1
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 31 6 0.100 None 0 1
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1995 2020
CUI: C0024620
Disease: Primary Malignant Liver Neoplasm
Primary Malignant Liver Neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 60 4 0.010 None 1.000 1 1995 1995
CUI: C1268588
Disease: Porphyric polyneuropathy
Porphyric polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999