176 results
Gene Diseases: congenital structural myopathy

ACT1

(Saccharomyces cerevisiae)
Gene
Name: ACTin
Synonyms: ABY1, END7, YFL039C
Source: SGD:S000001855
Biotype: protein coding gene

Actb

(Mus musculus)
Gene
Name: actin, beta
Synonyms: A-X actin-like protein, E430023M04Rik, RIKEN cDNA E430023M04 gene, Actx, melanoma X-actin, beta-actin
Source: MGI:87904
Biotype: protein coding gene

ACTB

(Homo sapiens)
Gene
Name: actin beta
Synonyms: actin, cytoplasmic 1, DDS1, beta cytoskeletal actin, actin, beta, CSMH, PS1TP5BP1, BNS, PS1TP5-binding protein 1, BKRNS, I(2)-actin, BRWS1, THC8
Source: HGNC:132
Biotype: protein coding gene

MX1

(Homo sapiens)
Gene
Name: MX dynamin like GTPase 1
Synonyms: myxoma resistance protein 1, MX dynamin-like GTPase 1, myxovirus (influenza virus) resistance 1, interferon-inducible protein p78, myxovirus resistance protein 1, lncMX1-215, IFI78, MX, interferon-regulated resistance GTP-binding protein MxA, interferon-induced protein p78, interferon inducible protein p78, MxA, interferon-induced GTP-binding protein Mx1, interferon-inducible protein p78, IFI-78K
Source: HGNC:7532
Biotype: protein coding gene

act-1

(Caenorhabditis elegans)
Gene
Name: ACTin 1
Synonyms: T04C12.6, CELE_T04C12.6
Source: WB:WBGene00000063
Biotype: protein coding gene

Dnm1

(Mus musculus)
Gene
Name: dynamin 1
Synonyms: fitful, Dnm, expressed sequence AI838169, AI838169, Ftfl
Source: MGI:107384
Biotype: protein coding gene

MAP3K20

(Homo sapiens)
Gene
Name: mitogen-activated protein kinase kinase kinase 20
Synonyms: leucine zipper- and sterile alpha motif-containing kinase, mitogen-activated protein kinase kinase kinase MLT, ZAK, MRK, protein kinase, mlklak, SFMMP, MLK7, human cervical cancer suppressor gene 4 protein, MLT, MLK-related kinase, mixed lineage kinase 7, sterile alpha motif and leucine zipper containing kinase AZK, ZAK1 homolog, leucine zipper and sterile-alpha motif kinase, mixed lineage kinase with a leucine zipper and a sterile alpha motif, mixed lineage kinase-related kinase MRK-beta, MLK-like mitogen-activated protein triple kinase, CNM6, AZK, MLTK, MLTKalpha, pk, MLTKbeta, HCCS-4, sterile alpha motif- and leucine zipper-containing kinase AZK, cervical cancer suppressor gene 4 protein
Source: HGNC:17797
Biotype: protein coding gene

PLN

(Homo sapiens)
Gene
Name: phospholamban
Synonyms: CMH18, PLB, CMD1P, cardiac phospholamban
Source: HGNC:9080
Biotype: protein coding gene

Dnm2

(Mus musculus)
Gene
Name: dynamin 2
Synonyms: DYIIAAB, Mutant line 2159, b2b2159Clo, Dyn2
Source: MGI:109547
Biotype: protein coding gene

BIN1

(Homo sapiens)
Gene
Name: bridging integrator 1
Synonyms: amphiphysin II, amphiphysin 2, DKFZp547F068, CNM2, AMPHL, amphiphysin-like protein, myc box-dependent-interacting protein 1, SH3P9, myc box dependent interacting protein 1, AMPH2, box dependant MYC interacting protein 1, MGC10367, box-dependent myc-interacting protein 1
Source: HGNC:1052
Biotype: protein coding gene

act-3

(Caenorhabditis elegans)
Gene
Name: ACTin 3
Synonyms: act1, T04C12.4, CELE_T04C12.4, act3
Source: WB:WBGene00000065
Biotype: protein coding gene

RVS167

(Saccharomyces cerevisiae)
Gene
Name: Reduced Viability on Starvation
Synonyms: YDR388W
Source: SGD:S000002796
Biotype: protein coding gene

MX2

(Homo sapiens)
Gene
Name: MX dynamin like GTPase 2
Synonyms: MX dynamin-like GTPase 2, myxovirus resistance protein 2, interferon-regulated resistance GTP-binding protein MXB, MXB, myxovirus (influenza virus) resistance 2, p78-related protein, interferon-induced GTP-binding protein Mx2, second interferon-induced protein p78
Source: HGNC:7533
Biotype: protein coding gene

Gfer

(Mus musculus)
Gene
Name: growth factor, augmenter of liver regeneration
Synonyms: Alr, ALR, ERV1, augmenter of liver regeneration
Source: MGI:107757
Biotype: protein coding gene

GFER

(Homo sapiens)
Gene
Name: growth factor, augmenter of liver regeneration
Synonyms: growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae), HPO, ALR, HERV1, ERV1, MPMCD, HSS, FAD-linked sulfhydryl oxidase ALR, HPO2, hepatic regenerative stimulation substance, truncated augmenter of liver regeneration, HPO1, ERV1 homolog, growth factor, erv1 -like, erv1-like growth factor, hepatopoietin protein, MMCHD
Source: HGNC:4236
Biotype: protein coding gene

DNM2

(Homo sapiens)
Gene
Name: dynamin 2
Synonyms: LCCS5, CMT2M, dynamin-2, DI-CMTB, dynamin II, DYN2, CMTDI1, CMTDIB, DYNII
Source: HGNC:2974
Biotype: protein coding gene

MTM1

(Homo sapiens)
Gene
Name: myotubularin 1
Synonyms: myotubularin, CNM, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, MTMX, XLMTM, CNMX, phosphatidylinositol-3-phosphate phosphatase
Source: HGNC:7448
Biotype: protein coding gene

DNM1

(Homo sapiens)
Gene
Name: dynamin 1
Synonyms: dynamin-1, EIEE31, DNM, DEE31B, DEE31A, DEE31, dynamin I
Source: HGNC:2972
Biotype: protein coding gene

Amph

(Drosophila melanogaster)
Gene
Name: Amphiphysin
Synonyms: Damp, Amp, damph, dAmph, amph, amphiphysin, dAmp, amphiphysin/BIN1, CG8604, Bin1, AMPH, dAmphiphysin, DAMP
Source: FB:FBgn0027356
Biotype: protein coding gene

Mx2

(Mus musculus)
Gene
Name: MX dynamin-like GTPase 2
Synonyms: Mx-2, Mx3, expressed sequence AI528743, AI528743
Source: MGI:97244
Biotype: polymorphic pseudogene

actb2

(Danio rerio)
Gene
Name: actin, beta 2
Synonyms: wu:fa56g06, bact2, fa56g06, wu:fb38a10, fb38a10, bactin2
Source: ZFIN:ZDB-GENE-000329-3
Biotype: protein coding gene

Actb

(Rattus norvegicus)
Gene
Name: actin, beta
Synonyms: cytoplasmic beta-actin, actin, cytoplasmic 1, Actx, beta-actin
Source: RGD:628837
Biotype: protein coding gene

shi

(Drosophila melanogaster)
Gene
Name: shibire
Synonyms: shu, l(1)shi, l(1)VII, Vps1, Shi, Ddyn, Shibere, Dyn, DYN, shib, dDyn, Shibire, anon-WO0153538.12, anon-WO0153538.13, anon-WO0153538.14, shibiri, dynamin, DNM3, shibere, Ddyn4, Ddyn3, shibire, Dynamin, dyn, CG18102
Source: FB:FBgn0003392
Biotype: protein coding gene

actb1

(Danio rerio)
Gene
Name: actin, beta 1
Synonyms: actine, wu:fd18f05, B-ACTZF, bactin1, bact
Source: ZFIN:ZDB-GENE-000329-1
Biotype: protein coding gene

DNM3

(Homo sapiens)
Gene
Name: dynamin 3
Synonyms: KIAA0820, MGC70433, dynamin, testicular, Dyna III, dynamin-3, dynamin family member, T-dynamin
Source: HGNC:29125
Biotype: protein coding gene

VPS1

(Saccharomyces cerevisiae)
Gene
Name: Vacuolar Protein Sorting
Synonyms: SPO15, YKR001C, VPL1, GRD1, LAM1, VPT26
Source: SGD:S000001709
Biotype: protein coding gene

Dnm3

(Mus musculus)
Gene
Name: dynamin 3
Synonyms: dynamin-2, RIKEN cDNA B230343F03 gene, AW061159, mKIAA0820, RIKEN cDNA 9630020E24 gene, B230343F03Rik, 9630020E24Rik, expressed sequence AW061159
Source: MGI:1341299
Biotype: protein coding gene

hlh-1

(Caenorhabditis elegans)
Gene
Name: Helix Loop Helix 1
Synonyms: CELE_B0304.1, B0304.1, MyoD1
Source: WB:WBGene00001948
Biotype: protein coding gene

Act88F

(Drosophila melanogaster)
Gene
Name: Actin 88F
Synonyms: Ifm(3)7, actin 88F, rsd, Arthrin, E, act 88F, Act88f, actin88F, arthrin, Act88-F, Act(88F), Actin88F, 88F actin, actin, F-actin, Actin, ACT88F, CG5178, act88F, ArpD, P83967
Source: FB:FBgn0000047
Biotype: protein coding gene

ERV1

(Saccharomyces cerevisiae)
Gene
Name: Essential for Respiration and Viability
Synonyms: YGR029W
Source: SGD:S000003261
Biotype: protein coding gene

AMPH

(Homo sapiens)
Gene
Name: amphiphysin
Synonyms: AMPH1, amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), Stiff-Man syndrome with breast cancer 128kDa autoantigen, amphiphysin I
Source: HGNC:471
Biotype: protein coding gene

unc-89

(Caenorhabditis elegans)
Gene
Name: UNCoordinated 89
Synonyms: C09D1.1, phm-1, CELE_C09D1.1
Source: WB:WBGene00006820
Biotype: protein coding gene

Ankrd1

(Rattus norvegicus)
Gene
Name: ankyrin repeat domain 1
Synonyms: ankyrin repeat domain-containing protein 1, Carp, ankyrin repeat domain 1 (cardiac muscle), LOC102552909, muscle ankyrin repeat protein, MARP, uncharacterized LOC102552909, cardiac ankyrin repeat protein, cardiac responsive adriamycin protein, Alrp, cardiac adriamycin-responsive protein, ankyrin-like repeat protein, Crap
Source: RGD:61989
Biotype: protein coding gene

mtm-6

(Caenorhabditis elegans)
Gene
Name: MTM (myotubularin) family 6
Synonyms: CELE_F53A2.8, F53A2.8, cup-6
Source: WB:WBGene00003478
Biotype: protein coding gene

Bin1

(Mus musculus)
Gene
Name: bridging integrator 1
Synonyms: Amphiphysin 2, amphiphysin-like, Amphl
Source: MGI:108092
Biotype: protein coding gene

EDTP

(Drosophila melanogaster)
Gene
Name: Egg-derived tyrosine phosphatase
Synonyms: D-EDTP, anon-WO0118547.124, BcDNA:LD23181, CG6542
Source: FB:FBgn0027506
Biotype: protein coding gene

amph-1

(Caenorhabditis elegans)
Gene
Name: AMPHiphysin homolog 1
Synonyms: F58G6.1, CELE_F58G6.1
Source: WB:WBGene00010272
Biotype: protein coding gene

CG3632

(Drosophila melanogaster)
Gene
Name: Not Available
Synonyms: MTMR3/4, MYOTUBULARIN-like
Source: FB:FBgn0030735
Biotype: protein coding gene

Mx2

(Rattus norvegicus)
Gene
Name: MX dynamin like GTPase 2
Synonyms: myxovirus resistance protein 2, myxovirus resistance protein 3, myxovirus (influenza virus) resistance 3, myxovirus (influenza virus) resistance 2, interferon-induced GTP-binding protein Mx3, interferon-induced GTP-binding protein Mx2, Mx3
Source: RGD:628821
Biotype: protein coding gene

mtm-9

(Caenorhabditis elegans)
Gene
Name: MTM (myotubularin) family 9
Synonyms: Y39H10A.3, Y39H10A.b, CELE_Y39H10A.3, cup-10, Y39H10A.f
Source: WB:WBGene00003479
Biotype: protein coding gene

Mtmr4

(Mus musculus)
Gene
Name: myotubularin related protein 4
Synonyms: ESTM44, expressed sequence tag mouse EST 44, mKIAA0647, FYVE-DSP2, AA596759, FYVE zinc finger phosphatase, ZFYVE11, EST AA596759
Source: MGI:2180699
Biotype: protein coding gene

BIN2

(Homo sapiens)
Gene
Name: bridging integrator 2
Synonyms: BRAP-1, bridging integrator-2, breast cancer-associated protein 1, breast cancer associated protein BRAP1
Source: HGNC:1053
Biotype: protein coding gene

YMR1

(Saccharomyces cerevisiae)
Gene
Name: Yeast Myotubularin Related
Synonyms: YJR110W
Source: SGD:S000003871
Biotype: protein coding gene

Ankrd1

(Mus musculus)
Gene
Name: ankyrin repeat domain 1
Synonyms: MARP, CARP, Carp, MARP1, cardiac responsive adriamycin protein, Alrp, ankyrin-like repeat protein, Crap
Source: MGI:1097717
Biotype: protein coding gene

MTMR9

(Homo sapiens)
Gene
Name: myotubularin related protein 9
Synonyms: DKFZp434K171, inactive phosphatidylinositol 3-phosphatase 9, MGC126672, C8orf9, myotubularin related protein 8, MTMR8, myotubularin-related protein 9, LIP-STYX
Source: HGNC:14596
Biotype: protein coding gene

Mtmr6

(Mus musculus)
Gene
Name: myotubularin related protein 6
Synonyms: AI428804, expressed sequence AI428804, predicted gene, 38641, AU041072, expressed sequence AU041072, 4022440C11Rik, Gm38641, RIKEN cDNA 4022440C11 gene
Source: MGI:2145637
Biotype: protein coding gene

Mtmr14

(Mus musculus)
Gene
Name: myotubularin related protein 14
Synonyms: expressed sequence AW553738, AW553738, RIKEN cDNA 1110061O04 gene, expressed sequence C76151, RGD1304842, C76151, 1110061O04Rik
Source: MGI:1916075
Biotype: protein coding gene

Mtmr9

(Mus musculus)
Gene
Name: myotubularin related protein 9
Synonyms: mMTMH3, RIKEN cDNA 9430075G12 gene, AA516943, expressed sequence AA516943, AF073881, MGC:54783, MTMR8, 9430075G12Rik, expressed sequence AF073881, LIP-STYX
Source: MGI:2442842
Biotype: protein coding gene

zak-1

(Caenorhabditis elegans)
Gene
Name: mammalian ZAK kinase homolog 1
Synonyms: CELE_R13F6.6, R13F6.6
Source: WB:WBGene00006971
Biotype: protein coding gene

mtm-1

(Caenorhabditis elegans)
Gene
Name: MTM (myotubularin) family 1
Synonyms: Y110A7A.5, CELE_Y110A7A.5
Source: WB:WBGene00003475
Biotype: protein coding gene