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: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 3 0.700 None 1.000 10 3 2012 2019
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Okinawa type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 9 2 2012 2017
CUI: C4020690
Disease: Abnormality of peripheral nerve conduction
Abnormality of peripheral nerve conduction 		phenotype Finding 8 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: C0457193
Disease: Soft tissue mass
Soft tissue mass 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2017 2017
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype Nervous System Diseases Finding 15 0.100 None 0
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype Finding 17 0.100 None 0
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 20 8 0.010 None 1.000 1 2019 2019
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 14 0.100 None 0
CUI: C1706731
Disease: Adult Extraskeletal Myxoid Chondrosarcoma
Adult Extraskeletal Myxoid Chondrosarcoma 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2004 2004
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: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		disease Nervous System Diseases Disease or Syndrome 32 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
CUI: C0205945
Disease: Sarcoma, Spindle Cell
Sarcoma, Spindle Cell 		disease Neoplasms Neoplastic Process 46 2 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 1 2014 2014
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma 		disease Neoplasms Neoplastic Process 50 0.520 strong 1.000 3 2004 2017
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma 		disease Neoplastic Process 51 1 0.010 None 1.000 1 2007 2007
CUI: C4288305
Disease: Recurrent Glioblastoma
Recurrent Glioblastoma 		disease Neoplasms Neoplastic Process 51 1 0.010 None 1.000 1 2007 2007
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: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: C0034372
Disease: Quadriplegia
Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.100 None 0