restrictive cardiomyopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. (Human Phenotype Ontology, HP_0001723)
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68 genes co-occuring with the disease restrictive cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
TTR transthyretin 1.80066
TNNI3 troponin I type 3 (cardiac) 1.71545
FIP1L1 factor interacting with PAPOLA and CPSF1 1.47067
TNNT2 troponin T type 2 (cardiac) 1.3372
CLCN1 chloride channel, voltage-sensitive 1 1.32323
TPM1 tropomyosin 1 (alpha) 1.09083
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.06774
MYH7 myosin, heavy chain 7, cardiac muscle, beta 1.0585
MYPN myopalladin 1.00583
ACTC1 actin, alpha, cardiac muscle 1 1.00161
TNNI1 troponin I type 1 (skeletal, slow) 0.959542
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.871643
RNASE3 ribonuclease, RNase A family, 3 0.847078
FMN2 formin 2 0.730166
DIO3 deiodinase, iodothyronine, type III 0.72612
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 0.708364
ACE angiotensin I converting enzyme 0.63042
SCX scleraxis basic helix-loop-helix transcription factor 0.620617
MYL12A myosin, light chain 12A, regulatory, non-sarcomeric 0.617486
APCS amyloid P component, serum 0.60147
SPTAN1 spectrin, alpha, non-erythrocytic 1 0.588222
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 0.583163
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 0.578106
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.577327
PLN phospholamban 0.547032
VCL vinculin 0.518805
FMN1 formin 1 0.479807
DNAH8 dynein, axonemal, heavy chain 8 0.477151
CRYAB crystallin, alpha B 0.473361
FGF9 fibroblast growth factor 9 0.469576
CDK11A cyclin-dependent kinase 11A 0.462772
NPPA natriuretic peptide A 0.455978
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.451831
NPPB natriuretic peptide B 0.416896
GREM2 gremlin 2, DAN family BMP antagonist 0.399334
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 0.391141
GJA1 gap junction protein, alpha 1, 43kDa 0.378885
EPX eosinophil peroxidase 0.361133
PITX1 paired-like homeodomain 1 0.359289
FKBP1A FK506 binding protein 1A, 12kDa 0.358183
GNAQ guanine nucleotide binding protein (G protein), q polypeptide 0.341639
DMD dystrophin 0.335046
TPM3 tropomyosin 3 0.3292
ARRB1 arrestin, beta 1 0.328834
GAN gigaxonin 0.326646
JUP junction plakoglobin 0.322637
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) 0.317909
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 0.312464
IL5 interleukin 5 0.307395
SAA2 serum amyloid A2 0.27794
MAP2K7 mitogen-activated protein kinase kinase 7 0.274732
DSP desmoplakin 0.254183
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 0.253831
LAMP2 lysosomal-associated membrane protein 2 0.251718
RPS6 ribosomal protein S6 0.239799
IDS iduronate 2-sulfatase 0.23945
DES desmin 0.217352
HFE hemochromatosis 0.209583
CD79A CD79a molecule, immunoglobulin-associated alpha 0.200982
TF transferrin 0.191097
ETV6 ets variant 6 0.189244
NR0B1 nuclear receptor subfamily 0, group B, member 1 0.176757
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.174881
MGAM maltase-glucoamylase 0.173832
TTN titin 0.165655
LAMA2 laminin, alpha 2 0.159838
FLNC filamin C, gamma 0.140944
IFNA2 interferon, alpha 2 0.136564