Fibrodysplasia Ossificans Progressiva Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (Human Disease Ontology, DOID_13374)
External Link https://www.disgenet.org/browser/0/1/0/C0016037
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Genes

52 genes associated with the disease Fibrodysplasia Ossificans Progressiva in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A1CF APOBEC1 complementation factor
ACVR1 activin A receptor, type I
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
APRT adenine phosphoribosyltransferase
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
ASIP agouti signaling protein
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATG5 autophagy related 5
ATM ATM serine/threonine kinase
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
C3 complement component 3
CCL5 chemokine (C-C motif) ligand 5
CD14 CD14 molecule
CD226 CD226 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CEP43 centrosomal protein 43
CHRD chordin
CHTOP chromatin target of PRMT1
COMT catechol-O-methyltransferase
CRK v-crk avian sarcoma virus CT10 oncogene homolog
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
FKBP1A FK506 binding protein 1A, 12kDa
GPC1 glypican 1
GRAP2 GRB2-related adaptor protein 2
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
INTS3 integrator complex subunit 3
KDR kinase insert domain receptor
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MFAP1 microfibrillar-associated protein 1
MMP1 matrix metallopeptidase 1
MSX2 msh homeobox 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOG noggin
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
RARG retinoic acid receptor, gamma
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROPN1L rhophilin associated tail protein 1-like
SDC4 syndecan 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SMAD1 SMAD family member 1
SMAD7 SMAD family member 7
TAC1 tachykinin, precursor 1
TLR3 toll-like receptor 3
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
YAP1 Yes-associated protein 1