RAB7B, RAB7B, member RAS oncogene family, 338382

N. diseases: 65; N. variants: 0
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: C1855772
Disease: Absent corpus callosum cataract immunodeficiency
Absent corpus callosum cataract immunodeficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 32 0.020 None 1.000 2 2016 2019
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 9 0.100 None 1.000 13 2003 2019
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2017 2017
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 22 0.010 None 1.000 1 2019 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 35 0.010 None 1.000 1 2017 2017
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2009 2009
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 14 0.010 None 1.000 1 2004 2004
CUI: C4316899
Disease: Cystinosis
Cystinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 32 27 0.010 None 1.000 1 2017 2017
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 1997 1997
CUI: C0008525
Disease: Choroideremia
Choroideremia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 41 15 0.010 None 1.000 1 2004 2004
CUI: C1262048
Disease: Glial scar
Glial scar 		phenotype Acquired Abnormality 51 0.010 None 1.000 1 2019 2019
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 61 0.010 None 1.000 1 2017 2017
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0.300 None 1.000 1 2008 2008
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.010 None 1.000 1 2009 2009
CUI: C0346109
Disease: Malignant Mesothelioma of Peritoneum
Malignant Mesothelioma of Peritoneum 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 65 2 0.010 None 1.000 1 2006 2006
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.300 None 1.000 1 2008 2008
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 89 0.300 None 1.000 1 2008 2008
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 110 7 0.010 None 1.000 1 2019 2019
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.010 None 1.000 1 2005 2005
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder) 		disease Infections Disease or Syndrome 123 0.010 None 1.000 1 2017 2017
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2019 2019
CUI: C0026936
Disease: Mycoplasma Infections
Mycoplasma Infections 		group Infections Disease or Syndrome 188 1 0.010 None 1.000 1 2014 2014
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.010 None 1.000 1 2002 2002
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.100 None 1.000 11 2003 2019
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.010 None 1.000 1 2017 2017