PRODH, proline dehydrogenase 1, 5625

N. diseases: 85; N. variants: 17
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: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder) 		disease Disease or Syndrome 1 7 0.500 strong 1.000 3 7 2002 2005
CUI: C0523852
Disease: Proline measurement
Proline measurement 		phenotype Laboratory Procedure 1 3 0.100 None 1.000 1 1 2019 2019
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 11 0.770 None 1.000 11 10 1996 2014
CUI: C0428209
Disease: Leucine measurement
Leucine measurement 		phenotype Laboratory Procedure 2 3 0.100 None 1.000 1 1 2019 2019
CUI: C0523459
Disease: Alanine measurement
Alanine measurement 		phenotype Laboratory Procedure 3 3 0.100 None 1.000 1 1 2019 2019
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.170 None 1.000 7 2 2002 2014
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		phenotype Laboratory Procedure 4 7 0.100 None 1.000 1 1 2019 2019
CUI: C0337446
Disease: Tyrosine measurement
Tyrosine measurement 		phenotype Laboratory Procedure 4 11 0.100 None 1.000 1 1 2019 2019
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 1996 1996
CUI: C0523920
Disease: Threonine measurement
Threonine measurement 		phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2019 2019
CUI: C0268534
Disease: Prolinuria
Prolinuria 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0948585
Disease: Hydroxyprolinuria
Hydroxyprolinuria 		phenotype Finding 8 0.100 None 0
CUI: C0543918
Disease: SCHIZOPHRENIA 10
SCHIZOPHRENIA 10 		disease Mental or Behavioral Dysfunction 10 1 0.010 None 1.000 1 2005 2005
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.010 None 1.000 1 2003 2003
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007
CUI: C0007398
Disease: Catatonia
Catatonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 2 0.010 None 1.000 1 2012 2012
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 3 0.100 None 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2012 2012
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2007 2007
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 31 2 0.020 None 1.000 2 1 2008 2015
CUI: C2986717
Disease: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 0.010 None 1.000 1 2012 2012
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 46 3 0.040 None 1.000 4 2005 2016
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 1996 1996
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group Laboratory Procedure 53 92 0.100 None 1.000 2 1 2015 2019
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 2008 2008