Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4
ERBB4 (2q34)


* Amyotrophic lateral sclerosis 19 - ALS19 (12.62)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
ERBB3 (12q13)


* Lethal congenital contracture syndrome 2 - LCCS2 (12.79)
V-Ha-RAS Harvey Rat Sarcoma Viral
HRAS (11p15.5)


* Myopathy, congenital, With excess of muscle spindles - CMEMS (3.52)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1
RAF1 (3p25.2)


* Dilated cardiomyopathy related to RAF1 - CMD1NN (10.75)
Vaccinia related kinase 1
VRK1 (14q32)


* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.10, 12.91, 14.126)
* Spinal muscular atrophy, distal, autosomal recessive - DSMA (12.10, 12.91, 14.126)
* Pontocerebellar hypoplasia type 1 - PCH1 (12.10, 12.91, 14.126)
Vacuolar protein sorting 37, Yeast, homolg of, A
VPS13D (1p36.22-p36.21)


* Spinocerebellar ataxia, autosomal recessive 4 - SCAR4 (13.59)
Vacuolar protein sorting-associated protein 37A
VPS37A (8p22)


* Spastic paraplegia 53, autosomal recessive - SPG53 (15.52)
Valosin-containing protein
VCP (9p13-p12)


* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 (1.62, 4.19, 5.29, 12.57, 14.65)
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.62, 4.19, 5.29, 12.57, 14.65)
* Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.62, 4.19, 5.29, 12.57, 14.65)
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.62, 4.19, 5.29, 12.57, 14.65)
* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.62, 4.19, 5.29, 12.57, 14.65)
Vesicle associated membrane protein (synaptobrevin 1)(M)
VAMP1 (12p13)


* ataxia, spastic, 1, autosomal dominant - SPAX1 (11.33, 15.76)
* Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.33, 15.76)
Vesicle-associated membrane protein-associated protein B and C
VAPB (7p15)


* Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.35, 12.51)
* Amyotrophic lateral sclerosis - ALS8 (12.35, 12.51)
Vinculin
VCL (10q22.1-q23)


* Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.58)
* Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.58)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
VMA21 (Xq28)


* Myopathy, X-linked, with excessive autophagy - XMEA (5.16)
Voltage-gated potassium channel, subfamily H, member 2
KCNH2 (7q36.1)


* Long QT syndrome-2 - LQT2 (10.124, 10.140)
* Short qt syndrome 1 - SQT1 (10.124, 10.140)
Voltage-gated sodium channel type V alpha
SCN5A (3p22.2)


* Progressive familial heart block, type I - PFHBI (10.125, 10.154, 10.164, 10.175, 10.41)
* Hereditary bundle branch system defect - HBBD (10.125, 10.154, 10.164, 10.175, 10.41)
* Cardiac conduction defect, progressive - PCCD (10.125, 10.154, 10.164, 10.175, 10.41)
* Brugada syndrome - SCN5A (10.125, 10.154, 10.164, 10.175, 10.41)
* Cardiomyopathy, dilated, 1E - CMD1E (10.125, 10.154, 10.164, 10.175, 10.41)
* Ventricular fibrillation, idiopathic - IVF (10.125, 10.154, 10.164, 10.175, 10.41)
* Ventricular fibrillation, paroxysmal familial - VF (10.125, 10.154, 10.164, 10.175, 10.41)
* Long QT syndrome-3 - LQT3 (10.125, 10.154, 10.164, 10.175, 10.41)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.125, 10.154, 10.164, 10.175, 10.41)
* Atrial fibrillation, 10 - ATFB10 (10.125, 10.154, 10.164, 10.175, 10.41)
Von Willebrand factor A domain Containing Protein 3B
VWA3B (2q11.2)


* Spinocerebellar ataxia, autosomal recessive 22 - SCAR22 (13.77)
Von Willebrand factor A domain-containing protein 1
VWA1 (1p36.33)


* Neuropathy, hereditary motor, with myopathic features - HMNMYO (12.101)
VPS41 Subunit of Hops Complex
VPS41 (7p14.1)


* Spinocerebellar ataxia - SCAR29 (13.84)