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: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 26 7 0.080 None 1.000 8 2 1978 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.070 None 0.857 7 1991 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.060 None 0.500 6 1995 2015
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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.040 None 1.000 4 2005 2019
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.040 None 1.000 4 2002 2019
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: 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: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.030 None 0.667 3 2009 2012
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.020 None 1.000 2 1991 1992
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.120 None 1.000 2 1995 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 1.000 2 2008 2019
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: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.020 None 1.000 2 1999 2002
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1995 2020
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.020 None 1.000 2 1991 1992
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 1995 2020
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.020 None 1.000 2 1994 1995
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2015 2015
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2005 2005
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: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic 		disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.010 None 1.000 1 1999 1999
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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2005 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2010 2010