emery-dreifuss muscular dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (Human Disease Ontology, DOID_11726)
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Genes

91 genes co-occuring with the disease emery-dreifuss muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
EMD emerin 3.67439
LMNA lamin A/C 2.90901
SYNE1 spectrin repeat containing, nuclear envelope 1 1.8409
BANF1 barrier to autointegration factor 1 1.84045
SUN1 Sad1 and UNC84 domain containing 1 1.81465
LEMD3 LEM domain containing 3 1.68725
LMNB1 lamin B1 1.40307
LMNB2 lamin B2 1.39739
LMO7 LIM domain 7 1.35638
FHL1 four and a half LIM domains 1 1.34417
TMEM43 transmembrane protein 43 1.23863
NAP1L1 nucleosome assembly protein 1-like 1 1.12151
LBR lamin B receptor 1.103
MLIP muscular LMNA-interacting protein 1.08873
ST14 suppression of tumorigenicity 14 (colon carcinoma) 1.0816
MAN1C1 mannosidase, alpha, class 1C, member 1 1.06144
YARS tyrosyl-tRNA synthetase 1.02187
UBL4A ubiquitin-like 4A 0.978006
YTHDC1 YTH domain containing 1 0.967921
CAPN3 calpain 3, (p94) 0.937874
LAMA2 laminin, alpha 2 0.906909
CLMN calmin (calponin-like, transmembrane) 0.896641
MYOD1 myogenic differentiation 1 0.89582
GPR50 G protein-coupled receptor 50 0.856497
DMD dystrophin 0.800333
ADAM28 ADAM metallopeptidase domain 28 0.792131
BCLAF1 BCL2-associated transcription factor 1 0.783526
ERBB2IP erbb2 interacting protein 0.774523
MYOG myogenin (myogenic factor 4) 0.754934
NCAPD3 non-SMC condensin II complex, subunit D3 0.741923
MKL1 megakaryoblastic leukemia (translocation) 1 0.734217
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.683093
COL6A2 collagen, type VI, alpha 2 0.682294
MYL1 myosin, light chain 1, alkali; skeletal, fast 0.677903
COL6A3 collagen, type VI, alpha 3 0.67312
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.649718
BCAP31 B-cell receptor-associated protein 31 0.630813
PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) 0.625319
DTNA dystrobrevin, alpha 0.606933
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 0.59952
KLRC3 killer cell lectin-like receptor subfamily C, member 3 0.581996
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 0.581606
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.578106
MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 0.561004
MAD2L1P1 MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 1 0.539667
HIST1H1A histone cluster 1, H1a 0.502675
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) 0.501527
ITGA7 integrin, alpha 7 0.471846
F8 coagulation factor VIII, procoagulant component 0.466172
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 0.45447
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.447311
NUP153 nucleoporin 153kDa 0.433772
PAX7 paired box 7 0.428516
CAV3 caveolin 3 0.394863
DES desmin 0.394118
SPTAN1 spectrin, alpha, non-erythrocytic 1 0.393374
HRAS Harvey rat sarcoma viral oncogene homolog 0.388538
DOK7 docking protein 7 0.385936
SEPN1 selenoprotein N, 1 0.385936
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 0.377031
COL6A1 collagen, type VI, alpha 1 0.368888
DYSF dysferlin 0.339073
SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 0.332121
PCNT pericentrin 0.32993
PABPN1 poly(A) binding protein, nuclear 1 0.326646
GJA5 gap junction protein, alpha 5, 40kDa 0.324823
DNM2 dynamin 2 0.324458
ELOVL4 ELOVL fatty acid elongase 4 0.321909
MYOT myotilin 0.316456
SIX5 SIX homeobox 5 0.305226
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.300533
HIST2H3PS2 histone cluster 2, H3, pseudogene 2 0.299812
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 0.295132
H3F3B H3 histone, family 3B (H3.3B) 0.293334
H3F3A H3 histone, family 3A 0.293334
FLNB filamin B, beta 0.292616
TAZ tafazzin 0.269398
MYOCD myocardin 0.269043
RB1 retinoblastoma 1 0.244696
MYF5 myogenic factor 5 0.243995
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) 0.227642
FLNA filamin A, alpha 0.225573
KIF1B kinesin family member 1B 0.221793
FKBP1A FK506 binding protein 1A, 12kDa 0.207912
HES5 hes family bHLH transcription factor 5 0.200982
MEF2C myocyte enhancer factor 2C 0.183835
EP300 E1A binding protein p300 0.176485
CASP6 caspase 6, apoptosis-related cysteine peptidase 0.167682
ISL1 ISL LIM homeobox 1 0.166544
CALCR calcitonin receptor 0.158951
VAV1 vav 1 guanine nucleotide exchange factor 0.157765