IMP
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Homo sapiens
22 genes annotated in human
congenital muscular dystrophy
DOID:0050557
A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
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In addition to gene-name show these genes:
Click on a gene's description to view its network relationships with genes known to be involved in "congenital muscular dystrophy"
| Name | Description | Probability | Func Analog Organism | |
|---|---|---|---|---|
| COL6A2 | collagen, type VI, alpha 2 | 0.998 | ||
| GMPPA | GDP-mannose pyrophosphorylase A | 0.997 | ||
| FHL2 | four and a half LIM domains 2 | 0.856 | ||
| DMD | dystrophin | 0.483 | ||
| COL6A1 | collagen, type VI, alpha 1 | 0.412 | ||
| EMILIN1 | elastin microfibril interfacer 1 | 0.229 | ||
| COL18A1 | collagen, type XVIII, alpha 1 | 0.207 | ||
| LAMB2 | laminin, beta 2 (laminin S) | 0.163 | ||
| LOXL1 | lysyl oxidase-like 1 | 0.159 | ||
| DCN | decorin | 0.142 | ||
| FHL3 | four and a half LIM domains 3 | 0.135 | ||
| UTRN | utrophin | 0.131 | ||
| PLXND1 | plexin D1 | 0.126 | ||
| PCOLCE | procollagen C-endopeptidase enhancer | 0.115 | ||
| HIST2H3C | histone cluster 2, H3c | 0.112 | ||
| FLNA | filamin A, alpha | 0.107 | ||
| AEBP1 | AE binding protein 1 | 0.100 | ||
| PDGFRB | platelet-derived growth factor receptor, beta polypeptide | 0.098 | ||
| GPC1 | glypican 1 | 0.092 | ||
| SDF2L1 | stromal cell-derived factor 2-like 1 | 0.080 | ||
| MRC2 | mannose receptor, C type 2 | 0.077 | ||
| LAMA2 | laminin, alpha 2 | 0.073 | ||
| NBL1 | neuroblastoma, suppression of tumorigenicity 1 | 0.072 | ||
| DTNA | dystrobrevin, alpha | 0.070 | ||
| FBLN2 | fibulin 2 | 0.055 | ||
| TAGLN2 | transgelin 2 | 0.053 | ||
| COL4A2 | collagen, type IV, alpha 2 | 0.048 | ||
| LTBP3 | latent transforming growth factor beta binding protein 3 | 0.047 | ||
| BCAR1 | breast cancer anti-estrogen resistance 1 | 0.046 | ||
| PTRF | polymerase I and transcript release factor | 0.046 | ||
| COL6A3 | collagen, type VI, alpha 3 | 0.044 | ||
| GAS6 | growth arrest-specific 6 | 0.043 | ||
| PSEN2 | presenilin 2 (Alzheimer disease 4) | 0.042 | ||
| CSPG4 | chondroitin sulfate proteoglycan 4 | 0.040 | ||
| PDLIM7 | PDZ and LIM domain 7 (enigma) | 0.036 | ||
| MFAP2 | microfibrillar-associated protein 2 | 0.035 | ||
| RCN3 | reticulocalbin 3, EF-hand calcium binding domain | 0.035 | ||
| LTBP4 | latent transforming growth factor beta binding protein 4 | 0.035 | ||
| LEPREL2 | leprecan-like 2 | 0.034 | ||
| MYH9 | myosin, heavy chain 9, non-muscle | 0.032 | ||
| EMD | emerin | 0.030 | ||
| PTPRA | protein tyrosine phosphatase, receptor type, A | 0.030 | ||
| C1R | complement component 1, r subcomponent | 0.030 | ||
| ALOX12 | arachidonate 12-lipoxygenase | 0.030 | ||
| COL1A1 | collagen, type I, alpha 1 | 0.029 | ||
| SLC10A3 | solute carrier family 10 (sodium/bile acid cotransporter family), member 3 | 0.028 | ||
| DDR2 | discoidin domain receptor tyrosine kinase 2 | 0.027 | ||
| FBLN1 | fibulin 1 | 0.027 | ||
| EMP3 | epithelial membrane protein 3 | 0.027 | ||
| LRP1 | low density lipoprotein receptor-related protein 1 | 0.026 | ||
| ELN | elastin | 0.026 | ||
| LTBP1 | latent transforming growth factor beta binding protein 1 | 0.026 | ||
| LTBP2 | latent transforming growth factor beta binding protein 2 | 0.026 | ||
| FLNB | filamin B, beta | 0.025 | ||
| SOX6 | SRY (sex determining region Y)-box 6 | 0.024 | ||
| COL16A1 | collagen, type XVI, alpha 1 | 0.024 | ||
| ITGB1 | integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) | 0.023 | ||
| CD151 | CD151 molecule (Raph blood group) | 0.023 | ||
| TNXB | tenascin XB | 0.023 | ||
| PAG1 | phosphoprotein associated with glycosphingolipid microdomains 1 | 0.023 | ||
| BMP1 | bone morphogenetic protein 1 | 0.023 | ||
| FKBP10 | FK506 binding protein 10, 65 kDa | 0.022 | ||
| CDK5RAP3 | CDK5 regulatory subunit associated protein 3 | 0.021 | ||
| FYCO1 | FYVE and coiled-coil domain containing 1 | 0.021 | ||
| SMTN | smoothelin | 0.020 | ||
| MINA | MYC induced nuclear antigen | 0.020 | ||
| C12orf66 | chromosome 12 open reading frame 66 | 0.019 | ||
| CYB5R3 | cytochrome b5 reductase 3 | 0.019 | ||
| PARP3 | poly (ADP-ribose) polymerase family, member 3 | 0.018 | ||
| GAS2L1 | growth arrest-specific 2 like 1 | 0.018 | ||
| TSEN2 | tRNA splicing endonuclease 2 homolog (S. cerevisiae) | 0.018 | ||
| SRPX | sushi-repeat containing protein, X-linked | 0.018 | ||
| MYL9 | myosin, light chain 9, regulatory | 0.017 | ||
| PLEC | plectin | 0.017 | ||
| NFE2L1 | nuclear factor (erythroid-derived 2)-like 1 | 0.017 | ||
| BGN | biglycan | 0.017 | ||
| ITGA3 | integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) | 0.016 | Human | |
| ACADVL | acyl-CoA dehydrogenase, very long chain | 0.016 | ||
| SH3GL1 | SH3-domain GRB2-like 1 | 0.016 | ||
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent, 1D | 0.016 | ||
| EHD2 | EH-domain containing 2 | 0.016 | ||
| HSPG2 | heparan sulfate proteoglycan 2 | 0.016 | ||
| EXTL2 | exostoses (multiple)-like 2 | 0.015 | ||
| TENC1 | tensin like C1 domain containing phosphatase (tensin 2) | 0.015 | ||
| MAP3K6 | mitogen-activated protein kinase kinase kinase 6 | 0.015 | ||
| TMEM214 | transmembrane protein 214 | 0.015 | ||
| SPON2 | spondin 2, extracellular matrix protein | 0.015 | ||
| ENG | endoglin | 0.015 | ||
| FAIM | Fas apoptotic inhibitory molecule | 0.015 | ||
| MLIP | muscular LMNA-interacting protein | 0.015 | ||
| FAP | fibroblast activation protein, alpha | 0.014 | ||
| SERPINF1 | serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 | 0.014 | ||
| CHPF | chondroitin polymerizing factor | 0.014 | ||
| EBAG9 | estrogen receptor binding site associated, antigen, 9 | 0.014 | ||
| ESF1 | ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) | 0.014 | ||
| TWIST2 | twist homolog 2 (Drosophila) | 0.014 | ||
| CRELD2 | cysteine-rich with EGF-like domains 2 | 0.014 | ||
| TSPAN4 | tetraspanin 4 | 0.014 | ||
| THBS3 | thrombospondin 3 | 0.014 | ||
| SFXN3 | sideroflexin 3 | 0.014 | ||
| NUPL2 | nucleoporin like 2 | 0.014 | ||
| IGFBP4 | insulin-like growth factor binding protein 4 | 0.014 | ||
| GAS1 | growth arrest-specific 1 | 0.013 | ||
| RRAS | related RAS viral (r-ras) oncogene homolog | 0.013 | ||
| NOTCH3 | notch 3 | 0.013 | ||
| IKBKAP | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | 0.013 | ||
| DAPK3 | death-associated protein kinase 3 | 0.013 | ||
| SRCIN1 | SRC kinase signaling inhibitor 1 | 0.013 | ||
| MFAP4 | microfibrillar-associated protein 4 | 0.013 | ||
| ACTN1 | actinin, alpha 1 | 0.013 | ||
| RWDD4 | RWD domain containing 4 | 0.012 | ||
| LMOD1 | leiomodin 1 (smooth muscle) | 0.012 | ||
| UBXN8 | UBX domain protein 8 | 0.012 | ||
| KAT5 | K(lysine) acetyltransferase 5 | 0.012 | ||
| IGFBP6 | insulin-like growth factor binding protein 6 | 0.012 | ||
| NLRP2 | NLR family, pyrin domain containing 2 | 0.012 | ||
| C15orf40 | chromosome 15 open reading frame 40 | 0.012 | ||
| B4GALT7 | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) | 0.012 | ||
| POGLUT1 | protein O-glucosyltransferase 1 | 0.012 | ||
| SUN2 | Sad1 and UNC84 domain containing 2 | 0.012 | ||
| LNX1 | ligand of numb-protein X 1 | 0.012 | ||
| TMEM129 | transmembrane protein 129 | 0.012 | ||
| CFD | complement factor D (adipsin) | 0.012 | ||
| ARHGAP32 | Rho GTPase activating protein 32 | 0.012 | ||
| SREBF1 | sterol regulatory element binding transcription factor 1 | 0.012 | ||
| COL5A1 | collagen, type V, alpha 1 | 0.012 | ||
| GALE | UDP-galactose-4-epimerase | 0.012 | ||
| PLTP | phospholipid transfer protein | 0.012 | ||
| IGFBP5 | insulin-like growth factor binding protein 5 | 0.011 | ||
| IPO13 | importin 13 | 0.011 | ||
| FSTL3 | follistatin-like 3 (secreted glycoprotein) | 0.011 | ||
| GRSF1 | G-rich RNA sequence binding factor 1 | 0.011 | ||
| JAM2 | junctional adhesion molecule 2 | 0.011 | ||
| RDH5 | retinol dehydrogenase 5 (11-cis/9-cis) | 0.011 | ||
| DOT1L | DOT1-like, histone H3 methyltransferase (S. cerevisiae) | 0.011 | ||
| TTC27 | tetratricopeptide repeat domain 27 | 0.011 | ||
| PTK2B | PTK2B protein tyrosine kinase 2 beta | 0.011 | ||
| LMF2 | lipase maturation factor 2 | 0.011 | ||
| ANGPTL2 | angiopoietin-like 2 | 0.011 | ||
| FADS3 | fatty acid desaturase 3 | 0.011 | ||
| TAF5L | TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa | 0.011 | ||
| ANXA6 | annexin A6 | 0.011 | ||
| NUBPL | nucleotide binding protein-like | 0.011 | ||
| DPT | dermatopontin | 0.011 | ||
| TP53BP1 | tumor protein p53 binding protein 1 | 0.010 | ||
| VEGFB | vascular endothelial growth factor B | 0.010 | ||
| MFGE8 | milk fat globule-EGF factor 8 protein | 0.010 | ||
| CD99 | CD99 molecule | 0.010 | ||
| COL8A2 | collagen, type VIII, alpha 2 | 0.010 | ||
| TUBB6 | tubulin, beta 6 | 0.010 | ||
| PTGDS | prostaglandin D2 synthase 21kDa (brain) | 0.010 | ||
| ISLR | immunoglobulin superfamily containing leucine-rich repeat | 0.010 | ||
| B3GNT1 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 | 0.008 | ||
| ITGA7 | integrin, alpha 7 | 0.008 | ||
| POMGNT1 | protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase | 0.006 | ||
| LMNA | lamin A/C | 0.006 | ||
| POMT2 | protein-O-mannosyltransferase 2 | 0.005 | ||
| DAG1 | dystroglycan 1 (dystrophin-associated glycoprotein 1) | 0.005 | ||
| POMT1 | protein-O-mannosyltransferase 1 | 0.004 | ||
| SGK196 | protein kinase-like protein SgK196 | 0.004 | ||
| SEPN1 | selenoprotein N, 1 | 0.004 | ||
| FKRP | fukutin related protein | 0.004 | ||
| FKTN | fukutin | 0.003 | ||
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | 0.003 | ||
| C3orf39 | chromosome 3 open reading frame 39 | 0.003 | ||
| GMPPB | GDP-mannose pyrophosphorylase B | 0.002 | ||
| CHKB | choline kinase beta | 0.002 | ||
| LARGE | like-glycosyltransferase | 0.002 | ||
| TMEM5 | transmembrane protein 5 | 0.001 | ||
| ISPD | isoprenoid synthase domain containing | 0.001 |