dystrophy Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

262 genes co-occuring with the biological term dystrophy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACTA1 actin, alpha 1, skeletal muscle
ADAM9 ADAM metallopeptidase domain 9
ADIPOQ adiponectin, C1Q and collagen domain containing
AHI1 Abelson helper integration site 1
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANO5 anoctamin 5
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2
BAG3 BCL2-associated athanogene 3
BCL2 B-cell CLL/lymphoma 2
BCLAF1 BCL2-associated transcription factor 1
BEST1 bestrophin 1
BIN1 bridging integrator 1
BIRC5 baculoviral IAP repeat containing 5
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN1 calpain 1, (mu/I) large subunit
CAPN2 calpain 2, (m/II) large subunit
CAPN3 calpain 3, (p94)
CAT catalase
CAV3 caveolin 3
CCND3 cyclin D3
CDC42BPA CDC42 binding protein kinase alpha (DMPK-like)
CDC42BPB CDC42 binding protein kinase beta (DMPK-like)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDKN2A cyclin-dependent kinase inhibitor 2A
CELF1 CUGBP, Elav-like family member 1
CELF2 CUGBP, Elav-like family member 2
CFLAR CASP8 and FADD-like apoptosis regulator
CHED1 corneal endothelial dystrophy 1 (autosomal dominant)
CHKB choline kinase beta
CHM choroideremia (Rab escort protein 1)
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLCN1 chloride channel, voltage-sensitive 1
CLU clusterin
CMD1B cardiomyopathy, dilated 1B (autosomal dominant)
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COL17A1 collagen, type XVII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CRYM crystallin, mu
CTCF CCCTC-binding factor (zinc finger protein)
CTGF connective tissue growth factor
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCN decorin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DOK7 docking protein 7
DTNA dystrobrevin, alpha
DTNBP1 dystrobrevin binding protein 1
DUX4 double homeobox 4
DUX4L1 double homeobox 4 like 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYSF dysferlin
EDN3 endothelin 3
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EPYC epiphycan
EYS eyes shut homolog (Drosophila)
FAT1 FAT atypical cadherin 1
FBLN1 fibulin 1
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FN1 fibronectin 1
FRG1 FSHD region gene 1
FRG2 FSHD region gene 2
FSHMD1A facioscapulohumeral muscular dystrophy 1A
FST follistatin
FXR1 fragile X mental retardation, autosomal homolog 1
GGT1 gamma-glutamyltransferase 1
GPC1 glypican 1
GSK3B glycogen synthase kinase 3 beta
GSS glutathione synthetase
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HMX1 H6 family homeobox 1
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IL17A interleukin 17A
IL7 interleukin 7
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INSR insulin receptor
ISPD isoprenoid synthase domain containing
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KERA keratocan
KRT12 keratin 12, type I
KRT3 keratin 3, type II
LAMA2 laminin, alpha 2
LDB3 LIM domain binding 3
LEP leptin
LMNA lamin A/C
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LTBP4 latent transforming growth factor beta binding protein 4
LUM lumican
MAPT microtubule-associated protein tau
MATR3 matrin 3
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MCDR3 macular dystrophy, retinal 3
MEF2C myocyte enhancer factor 2C
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MIR1-1 microRNA 1-1
MIR1-2 microRNA 1-2
MIR206 microRNA 206
MMP2 matrix metallopeptidase 2
MSTN myostatin
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT-TL1 tRNA
MTMR1 myotubularin related protein 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC1 mucin 1, cell surface associated
MYF5 myogenic factor 5
MYH14 myosin, heavy chain 14, non-muscle
MYOT myotilin
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH1 notch 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OBSL1 obscurin-like 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
ORAI1 ORAI calcium release-activated calcium modulator 1
PABPC1P2 poly(A) binding protein, cytoplasmic 1 pseudogene 2
PABPN1 poly(A) binding protein, nuclear 1
PAMR1 peptidase domain containing associated with muscle regeneration 1
PARK7 parkinson protein 7
PARP1 poly (ADP-ribose) polymerase 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PDLIM3 PDZ and LIM domain 3
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITPNM3 PITPNM family member 3
PITX2 paired-like homeodomain 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLEC plectin
POC1B POC1 centriolar protein B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PROM1 prominin 1
PRPF31 pre-mRNA processing factor 31
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
PSAP prosaposin
PTRF polymerase I and transcript release factor
RAB27A RAB27A, member RAS oncogene family
RAB28 RAB28, member RAS oncogene family
RAD51 RAD51 recombinase
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RYR1 ryanodine receptor 1 (skeletal)
SCN5A sodium channel, voltage gated, type V alpha subunit
SDC3 syndecan 3
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMG8 SMG8 nonsense mediated mRNA decay factor
SMN1 survival of motor neuron 1, telomeric
SNTA1 syntrophin, alpha 1
SPATA18 spermatogenesis associated 18
SPATA7 spermatogenesis associated 7
SPP1 secreted phosphoprotein 1
SSPN sarcospan
STIM1 stromal interaction molecule 1
STS steroid sulfatase (microsomal), isozyme S
SYNC syncoilin, intermediate filament protein
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
SYNM synemin, intermediate filament protein
SYTL2 synaptotagmin-like 2
TACSTD2 tumor-associated calcium signal transducer 2
TCAP titin-cap
TCF4 transcription factor 4
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TF transferrin
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM2 transglutaminase 2
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM107 transmembrane protein 107
TNF tumor necrosis factor
TNNT1 troponin T type 1 (skeletal, slow)
TNNT3 troponin T type 3 (skeletal, fast)
TNPO3 transportin 3
TP53 tumor protein p53
TP63 tumor protein p63
TPM3 tropomyosin 3
TRAPPC11 trafficking protein particle complex 11
TRIM32 tripartite motif containing 32
TRPV2 transient receptor potential cation channel, subfamily V, member 2
TTLL5 tubulin tyrosine ligase-like family member 5
TTN titin
TXN thioredoxin
UBIAD1 UbiA prenyltransferase domain containing 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
UTRN utrophin
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX1 visual system homeobox 1
VSX2 visual system homeobox 2
VWF von Willebrand factor
WDR34 WD repeat domain 34
YTHDC1 YTH domain containing 1
ZEB1 zinc finger E-box binding homeobox 1
ZNF674 zinc finger protein 674