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: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C3806285
Disease: Recurrent infections due to aspiration
Recurrent infections due to aspiration 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0010043
Disease: Corneal Ulcer
Corneal Ulcer 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0151934
Disease: Hypogeusia
Hypogeusia 		phenotype 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0