PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
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.
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2019 2019
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 288 4 0.010 None 1.000 1 2019 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 2020 2020
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2019 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2015 2015
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2017 2017
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases
group Digestive System Diseases Disease or Syndrome 42 4 0.010 None 1.000 1 2019 2019
CUI: C3275124
Disease: Biliary System Disorder
Biliary System Disorder
disease Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2019 2019
X-linked Charcot-Marie-Tooth disease type 6
disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2016 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2015 2015
Non-Hereditary Clear Cell Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 59 13 0.010 None 1.000 1 1 2016 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2015 2015
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
disease Neoplasms Neoplastic Process 504 42 0.010 None 1.000 1 2012 2012
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2018 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2019 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 1 2016 2016
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 1 2013 2013
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2015 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2019 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2019 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019