IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1384590
Disease: Hemangiomatosis
Hemangiomatosis
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 3 1 0.100 None 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma
disease Neoplasms Neoplastic Process 22 1 0.100 None 0
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 170 11 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
phenotype Finding 59 15 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0025995
Disease: Micromelia
Micromelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0151825
Disease: Bone pain
Bone pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
disease Anatomical Abnormality 97 0.100 None 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C4016231
Disease: GLIOBLASTOMA MULTIFORME, SOMATIC
GLIOBLASTOMA MULTIFORME, SOMATIC
disease Finding 1 1 0.100 None 0 1
CUI: C0018021
Disease: Goiter
Goiter
phenotype Endocrine System Diseases Disease or Syndrome 142 19 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0
phenotype Finding 67 0.100 None 0
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 133 12 0.100 None 0
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex
group Neoplasms; Endocrine System Diseases Neoplastic Process 74 5 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 139 20 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C4721411
Disease: Osteolysis
Osteolysis
phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis
disease Disease or Syndrome 17 0.100 None 0