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: C0342858
Disease: Homozygous acute intermittent porphyria
Homozygous acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.020 None 1.000 2 1992 2002
CUI: C1268588
Disease: Porphyric polyneuropathy
Porphyric polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C0554980
Disease: Moody (finding)
Moody (finding) 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1142277
Disease: Brown urine
Brown urine 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1867969
Disease: Porphyria, Acute Intermittent, Nonerythroid Variant
Porphyria, Acute Intermittent, Nonerythroid Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C2936779
Disease: Hydroxymethylbilane Synthase Deficiency
Hydroxymethylbilane Synthase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.310 None 1.000 3 1983 2013
CUI: C2718078
Disease: Deficiency of Uroporphyrinogen III Synthase
Deficiency of Uroporphyrinogen III Synthase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 1997 1997
CUI: C1848702
Disease: Elevated urinary delta-aminolevulinic acid
Elevated urinary delta-aminolevulinic acid 		phenotype Finding 3 1 0.100 None 0 1
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		disease Digestive System Diseases Disease or Syndrome 4 1 0.100 None 0 1
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		phenotype Finding 4 3 0.100 None 0 2
CUI: C2188153
Disease: Undifferentiated/Unclassified Sarcoma
Undifferentiated/Unclassified Sarcoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 5 0.010 None 1.000 1 1994 1994
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: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.220 None 1.000 3 1984 2006
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2012 2012
CUI: C0020435
Disease: Hyperbilirubinemia, Hereditary
Hyperbilirubinemia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.200 None 1.000 1 1986 1986
CUI: C0015190
Disease: Euthyroid Sick Syndromes
Euthyroid Sick Syndromes 		disease Endocrine System Diseases Disease or Syndrome 9 1 0.100 None 0 1
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: C1327920
Disease: Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 12 1 0.010 None 1.000 1 1996 1996
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: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 1 0.110 None 1.000 1 1 2015 2015
CUI: C0013428
Disease: Dysuria
Dysuria 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 3 0.100 None 0 1
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: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 6 0.010 None 1.000 1 2008 2008
CUI: C0020546
Disease: Hypertensive crisis
Hypertensive crisis 		phenotype Nervous System Diseases; Cardiovascular Diseases Pathologic Function 19 0.100 None 0