TFG, trafficking from ER to golgi regulator, 10342

N. diseases: 104; 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: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
phenotype Pathological Conditions, Signs and Symptoms Finding 51 7 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0034372
Disease: Quadriplegia
Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.100 None 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
Abnormality of peripheral nerve conduction
phenotype Finding 8 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon
disease Musculoskeletal Diseases Anatomical Abnormality 8 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C0017639
Disease: Gliosis
Gliosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.100 None 0
Decreased number of peripheral myelinated nerve fibers
phenotype Finding 28 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
phenotype Finding 49 1 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.070 None 1.000 7 2000 2017
Hereditary Motor and Sensory Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.050 None 1.000 5 1 2012 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.040 None 1.000 4 3 2016 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.030 None 1.000 3 2016 2018
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
disease Disease or Syndrome 138 21 0.020 None 1.000 2 2012 2017
Ki-1+ Anaplastic Large Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 10 0.020 None 1.000 2 1999 2002
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.020 None 1.000 2 2015 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.020 None 1.000 2 2004 2012
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 0.020 None 1.000 2 2 2014 2019