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: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease 0.300 None 1.000 3 0 2007 2009
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
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: 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: 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: 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: 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: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease 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: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence 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: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic 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: C0393695
Disease: Early Childhood Epilepsy, Myoclonic
Early Childhood Epilepsy, Myoclonic 		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: 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: 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: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		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: C0751481
Disease: Reflex, Triceps, Decreased
Reflex, Triceps, 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: C0751480
Disease: Reflex, Triceps, Abnormal
Reflex, Triceps, 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: C0751478
Disease: Reflex, Knee, Decreased
Reflex, Knee, 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: C0751477
Disease: Reflex, Knee, Abnormal
Reflex, Knee, 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: C0751476
Disease: Reflex, Gag, Decreased
Reflex, Gag, 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: C0751475
Disease: Reflex, Biceps, Decreased
Reflex, Biceps, 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: C0751474
Disease: Reflex, Biceps, Abnormal
Reflex, Biceps, Abnormal 		phenotype 0.300 None 1.000 1 0 2002 2002