Source: HPO

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: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.500 None 1.000 0 0 2000 2016
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0085633
Disease: Mood swings
Mood swings 		disease 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0085631
Disease: Agitation
Agitation 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0043352
Disease: Xerostomia
Xerostomia 		disease 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0003467
Disease: Anxiety
Anxiety 		disease 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype 0.100 None 0 0