RPS6KB1, ribosomal protein S6 kinase B1, 6198

N. diseases: 169; N. variants: 4
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: C2931673
Disease: Ceroid lipofuscinosis, neuronal 1, infantile
Ceroid lipofuscinosis, neuronal 1, infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.300 None 1.000 1 2011 2011
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2011 2011
CUI: C0001957
Disease: Alcohol Withdrawal Delirium
Alcohol Withdrawal Delirium 		disease Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 23 8 0.010 None 1.000 1 2018 2018
CUI: C0020639
Disease: Hypoproteinemia
Hypoproteinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 4 0.200 None 1.000 1 2005 2005
CUI: C0279543
Disease: Philadelphia chromosome positive chronic myelogenous leukemia
Philadelphia chromosome positive chronic myelogenous leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 27 3 0.010 None 1.000 1 2018 2018
CUI: C4522181
Disease: Brachial Amyotrophic Diplegia
Brachial Amyotrophic Diplegia 		disease Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2011 2011
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		disease Nervous System Diseases Disease or Syndrome 35 8 0.010 None 1.000 1 2018 2018
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 36 1 0.010 None 1.000 1 2013 2013
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		disease Disease or Syndrome 36 0.010 None 1.000 1 2018 2018
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.020 None 1.000 2 2017 2017
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 49 0.200 None 1.000 1 2008 2008
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		disease Disease or Syndrome 51 4 0.010 None 1.000 1 2017 2017
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma 		disease Neoplasms Neoplastic Process 53 1 0.010 None 1.000 1 2013 2013
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 54 1 0.010 None 1.000 1 2006 2006
CUI: C1257763
Disease: Overnutrition
Overnutrition 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 54 0.010 None 1.000 1 2018 2018
CUI: C0333641
Disease: Atrophic
Atrophic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 58 1 0.300 None 1.000 1 2006 2006
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 96 17 0.040 None 1.000 4 2008 2013
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
Carcinomatosis of peritoneal cavity 		disease Digestive System Diseases; Neoplasms Neoplastic Process 107 3 0.010 None 1.000 1 2014 2014
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.100 None 1.000 1 1 2019 2019
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 129 16 0.010 None 1.000 1 2018 2018
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.200 None 1.000 1 2005 2005
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 2012 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.010 None 1.000 1 2017 2017
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.010 None 1.000 1 2014 2014
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.010 None 1.000 1 2008 2008