PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
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: C0268461
Disease: Disorder of phenylalanine metabolism
Disorder of phenylalanine metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1849926
Disease: Phenylpyruvic acidemia
Phenylpyruvic acidemia 		phenotype Nutritional and Metabolic Diseases Finding 1 0.100 None 0
CUI: C2678416
Disease: Hyperphenylalaninemia, Non-Pku Mild
Hyperphenylalaninemia, Non-Pku Mild 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4022014
Disease: Maternal hyperphenylalaninemia
Maternal hyperphenylalaninemia 		phenotype Finding 1 0.100 None 0
CUI: C4025094
Disease: Reduced phenylalanine hydroxylase activity
Reduced phenylalanine hydroxylase activity 		phenotype Finding 1 3 0.100 None 0 3
CUI: C4025273
Disease: Atypical hyperphenylalaninemia
Atypical hyperphenylalaninemia 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3697982
Disease: Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary arterial hypertension associated with connective tissue disease 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1860162
Disease: Bifid distal phalanx of the thumb
Bifid distal phalanx of the thumb 		phenotype Finding 3 0.100 None 0
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 2 2019 2019
CUI: C1842681
Disease: Hypoplastic helices
Hypoplastic helices 		phenotype Finding 4 2 0.100 None 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 38 0.010 None 1.000 1 1987 1987
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		disease Disease or Syndrome 5 11 0.010 None 1.000 1 2019 2019
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype Finding 5 1 0.100 None 0
CUI: C0085547
Disease: Phenylketonuria, Maternal
Phenylketonuria, Maternal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 6 2 0.590 None 0.929 14 2 1987 2018
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2019 2019
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 16 0.300 None 0
CUI: C4703632
Disease: Increased level of hippuric acid in urine
Increased level of hippuric acid in urine 		phenotype Finding 7 0.100 None 0
CUI: C3887658
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 8 3 0.030 None 0.667 3 2016 2020
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.320 None 1.000 2 1987 2017
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.010 None 1.000 1 2007 2007
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		phenotype Pathologic Function 12 23 0.100 None 1.000 1 1 2019 2019
CUI: C0013743
Disease: Eisenmenger Complex
Eisenmenger Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0239801
Disease: Blonde hair
Blonde hair 		phenotype Finding 13 0.100 None 0
CUI: C0853888
Disease: Hypocomplementaemia
Hypocomplementaemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		phenotype Mental Disorders Finding 14 1 0.100 None 0