RAB7A, RAB7A, member RAS oncogene family, 7879

N. diseases: 95; N. variants: 5
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: C4025740
Disease: Autoamputation of foot
Autoamputation of foot 		phenotype Musculoskeletal Diseases Finding 2 0.100 None 0
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: C4025619
Disease: Peripheral axonal atrophy
Peripheral axonal atrophy 		disease Disease or Syndrome 4 0.100 None 0
CUI: C4049342
Disease: Foot osteomyelitis
Foot osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 5 0.100 None 0
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 0.800 None 1.000 19 4 2003 2019
CUI: C0231791
Disease: Toeing-in
Toeing-in 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2013 2013
CUI: C1968790
Disease: Axonal degeneration/regeneration
Axonal degeneration/regeneration 		phenotype Finding 8 0.100 None 0
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: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		phenotype Finding 18 0.100 None 0
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: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2017 2017
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		disease Infections Disease or Syndrome 22 9 0.010 None 1.000 1 1 2019 2019
CUI: C0085119
Disease: Foot Ulcer
Foot Ulcer 		disease Skin and Connective Tissue Diseases Disease or Syndrome 25 3 0.030 None 1.000 3 2000 2013
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: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.010 None 1.000 1 2000 2000
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 16 0.010 None 1.000 1 2002 2002
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		phenotype Finding 28 0.100 None 0
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 0.020 None 1.000 2 2000 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: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
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: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0