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: C4721411
Disease: Osteolysis
Osteolysis
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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
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: C0700225
Disease: Serum creatinine raised
Serum creatinine raised
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: 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: 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: C0456070
Disease: Growth delay
Growth delay
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: C0423318
Disease: Heterochromia iridis
Heterochromia iridis
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: 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: C0268731
Disease: Renal glomerular disease
Renal glomerular 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: 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: 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: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder)
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: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
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: C1858120
Disease: Generalized hypotonia
Generalized 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: 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: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, 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: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
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: 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: 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: 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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
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