Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
ERBB3 (12q13)


* Lethal congenital contracture syndrome 2 - LCCS2 (12.67)
Vaccinia related kinase 1
VRK1 (14q32)


* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.70, 14.99)
* Pontocerebellar hypoplasia type 1 - PCH1 (12.70, 14.99)
Vacuolar protein sorting-associated protein 37A
VPS37A (8p22)


* Spastic paraplegia 53, autosomal recessive - SPG53 (15.48)
Valosin-containing protein
VCP (9p13-p12)


* Distal myopathy related to VCP - IBMPFD (1.47, 4.17, 5.25, 12.52)
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.47, 4.17, 5.25, 12.52)
* Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.47, 4.17, 5.25, 12.52)
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.47, 4.17, 5.25, 12.52)
vesicle associated membrane protein (synaptobrevin 1)
VAMP1 (12p13)


* ataxia, spastic, 1, autosomal dominant - SPAX1 (15.67)
Vesicle-associated membrane protein-associated protein B and C
VAPB (7p15)


* Spinal muscular atrophy, late-onset, Finkel type - (12.30, 12.46)
* Amyotrophic lateral sclerosis - ALS8 (12.30, 12.46)
Vinculin
VCL (10q22.1-q23)


* Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.51)
* Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.51)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
VMA21 (Xq28)


* Myopathy, X-linked, with excessive autophagy - XMEA (5.13)
Voltage-gated potassium channel, subfamily H, member 2
KCNH2 (7q35-q36)


* Long QT syndrome-2 - LQT2 (7.15, 10.103, 10.115)
* Short qt syndrome 1 - SQT1 (7.15, 10.103, 10.115)
Voltage-gated sodium channel type V alpha
SCN5A (3p21)


* Progressive familial heart block, type I - PFHBI (7.7, 10.104, 10.134, 10.141, 10.35)
* Hereditary bundle branch system defect - HBBD (7.7, 10.104, 10.134, 10.141, 10.35)
* Cardiac conduction defect, progressive - PCCD (7.7, 10.104, 10.134, 10.141, 10.35)
* Brugada syndrome - SCN5A (7.7, 10.104, 10.134, 10.141, 10.35)
* Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.104, 10.134, 10.141, 10.35)
* Ventricular fibrillation, idiopathic - IVF (7.7, 10.104, 10.134, 10.141, 10.35)
* Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.104, 10.134, 10.141, 10.35)
* Long QT syndrome-3 - LQT3 (7.7, 10.104, 10.134, 10.141, 10.35)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.104, 10.134, 10.141, 10.35)