Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C4083008
Disease: Guillain-Barre Syndrome, Familial
Guillain-Barre Syndrome, Familial 		disease 0.500 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome 		disease 0.330 None 0.667 0 0 2000 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C3542501
Disease: Acute Infective Polyneuritis
Acute Infective Polyneuritis 		disease 0.300 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group 0.600 None 0.938 1 0 1994 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C4551910
Disease: Acute Inflammatory Demyelinating Polyneuropathy
Acute Inflammatory Demyelinating Polyneuropathy 		disease 0.520 None 1.000 1 0 2002 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.440 None 1.000 1 0 1996 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype 0.410 None 1.000 1 0 2002 2011
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.400 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.400 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0392699
Disease: Dysesthesia
Dysesthesia 		phenotype 0.400 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0558846
Disease: Reflex, Triceps, Absent
Reflex, Triceps, Absent 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751468
Disease: Bulbocavernosus Reflex, Decreased
Bulbocavernosus Reflex, Decreased 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751461
Disease: Paralysis, Spinal, Quadriplegic
Paralysis, Spinal, Quadriplegic 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751460
Disease: Flaccid Quadriplegia
Flaccid Quadriplegia 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0522345
Disease: Reflex, Acoustic, Abnormal
Reflex, Acoustic, Abnormal 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751412
Disease: Painful Paresthesias
Painful Paresthesias 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751120
Disease: Benign Infantile Myoclonic Epilepsy
Benign Infantile Myoclonic Epilepsy 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0576612
Disease: Reflex, Anal, Absent
Reflex, Anal, Absent 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0558847
Disease: Reflex, Biceps, Absent
Reflex, Biceps, Absent 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751469
Disease: Bulbocavernousus Reflex Absent
Bulbocavernousus Reflex Absent 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C2350037
Disease: Clinically Isolated Syndrome, CNS Demyelinating
Clinically Isolated Syndrome, CNS Demyelinating 		disease 0.300 None 1.000 1 0 2010 2010