abnormality of the shoulder Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. (Human Phenotype Ontology, HP_0003043)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003043
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Genes

47 genes associated with the abnormality of the shoulder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
DYM dymeclin
EFNB1 ephrin-B1
ELN elastin
EYA1 EYA transcriptional coactivator and phosphatase 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HHAT hedgehog acyltransferase
HSPG2 heparan sulfate proteoglycan 2
IRX5 iroquois homeobox 5
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MEOX1 mesenchyme homeobox 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
ORC1 origin recognition complex, subunit 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PTCH1 patched 1
PTCH2 patched 2
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RUNX2 runt-related transcription factor 2
SCARF2 scavenger receptor class F, member 2
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
TBX5 T-box 5
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4