HAL, histidine ammonia-lyase, 3034

N. diseases: 57; N. variants: 11
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: C0220992
Disease: Histidinemia
Histidinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 4 0.730 None 1.000 3 4 1991 2005
CUI: C0268642
Disease: Histidinuria renal tubular defect
Histidinuria renal tubular defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.400 None 1.000 1 2005 2005
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C1291163
Disease: Increased histidine
Increased histidine 		phenotype Finding 1 3 0.100 None 1.000 3 3 2004 2015
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		disease Neoplasms Neoplastic Process 64 109 0.100 None 1.000 1 1 2019 2019
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		phenotype Laboratory Procedure 14 51 0.100 None 1.000 1 1 2017 2017
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 1 1 2019 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 1 1 2019 2019
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		phenotype Laboratory Procedure 14 51 0.100 None 1.000 1 1 2017 2017
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2001 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 0.020 None 1.000 2 2017 2019
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.020 None 1.000 2 2017 2017
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8 0.020 None 1.000 2 2017 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2000 2000
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2000 2000
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.010 None 1.000 1 2017 2017
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2016 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2017 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2011 2011
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		phenotype Neoplasms Neoplastic Process 437 63 0.010 None 1.000 1 1 2008 2008