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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		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: C0520966
Disease: Abnormal coordination
Abnormal coordination 		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: C0151746
Disease: Abnormal renal function
Abnormal renal function 		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: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum 		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: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura 		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: C0221347
Disease: Acrocyanosis
Acrocyanosis 		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: C0344505
Disease: Alacrima
Alacrima 		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: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		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: C3887513
Disease: Avascular necrosis
Avascular necrosis 		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: 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: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		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: C0151539
Disease: Blood urea increased
Blood urea increased 		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: C0392163
Disease: Corneal erosion
Corneal erosion 		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: 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: 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: C3806286
Disease: Decreased sensitivity to hypoxemia
Decreased sensitivity to hypoxemia 		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: 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: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		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: C1857171
Disease: Episodic hyperhidrosis
Episodic hyperhidrosis 		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: C0575081
Disease: Gait abnormality
Gait abnormality 		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: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0