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: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		disease 0.300 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0025995
Disease: Micromelia
Micromelia 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1384590
Disease: Hemangiomatosis
Hemangiomatosis 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0151825
Disease: Bone pain
Bone pain 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0018021
Disease: Goiter
Goiter 		phenotype 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		disease 0.100 None 0 0
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		disease 0.100 None 0 0