RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
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: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis 		phenotype Pathologic Function 6 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		phenotype Finding 8 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2007 2007
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 32 0.300 None 1.000 1 2009 2009
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 0.300 None 1.000 1 2009 2009
CUI: C0086405
Disease: Hereditary Sensory Radicular Neuropathy
Hereditary Sensory Radicular Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2009 2009
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.300 strong 1.000 1 2009 2009
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2009 2009
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.300 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 0.300 None 1.000 1 2009 2009
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 9 0.410 None 1.000 2 4 2009 2011
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 212 32 0.010 None 1.000 1 2011 2011