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: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 17 2 1993 2015
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group Laboratory Procedure 53 92 0.100 None 1.000 3 4 2015 2019
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.020 None 1.000 2 2013 2019
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.020 None 1.000 2 1996 2001
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
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: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2016 2016
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2017 2017
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2019 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2019 2019
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 2016 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2005 2005
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: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2017 2017
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: 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: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2018 2018
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		phenotype Pathologic Function 12 23 0.100 None 1.000 1 1 2019 2019
CUI: C0239801
Disease: Blonde hair
Blonde hair 		phenotype Finding 13 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype Finding 5 1 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: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 0.100 None 0