Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C1848680
Disease: 4-hydroxyphenylacetic aciduria
4-hydroxyphenylacetic aciduria 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria 		phenotype 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease 0.300 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease 0.010 None 1.000 1 0 1981 1981
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group 0.010 None 1.000 1 0 1993 1993
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0021400
Disease: Influenza
Influenza 		disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0220769
Disease: FG syndrome
FG syndrome 		disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease 0.010 None < 0.001 1 0 1998 1998