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: 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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.500 None 0.955 22 8 2004 2018
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: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.310 None 1.000 2 2007 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.310 None 1.000 1 1 2017 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 0.500 2 2006 2006
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
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: 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: 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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2012 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2008 2008
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 2 1 2015 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.100 None 1.000 1 1 2018 2018
blood phenylalanine measurement by Guthrie microbiologic assay
phenotype Laboratory Procedure 4 7 0.100 None 1.000 1 1 2019 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.100 None 1.000 1 1 2018 2018
CUI: C0428209
Disease: Leucine measurement
Leucine measurement
phenotype Laboratory Procedure 2 3 0.100 None 1.000 1 1 2019 2019
CUI: C0523920
Disease: Threonine measurement
Threonine measurement
phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2019 2019
CUI: C0523852
Disease: Proline measurement
Proline measurement
phenotype Laboratory Procedure 1 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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 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
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
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