proportionate short stature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A kind of short stature in which different regions of the body are shortened to a comparable extent. (Human Phenotype Ontology, HP_0003508)
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43 genes associated with the proportionate short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CANT1 calcium activated nucleotidase 1
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CTSA cathepsin A
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
EVC Ellis van Creveld protein
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FLNB filamin B, beta
GH1 growth hormone 1
GLB1 galactosidase, beta 1
GORAB golgin, RAB6-interacting
HOXD13 homeobox D13
IDS iduronate 2-sulfatase
INPPL1 inositol polyphosphate phosphatase-like 1
LBR lamin B receptor
NIN ninein (GSK3B interacting protein)
PDE4D phosphodiesterase 4D, cAMP-specific
PEX7 peroxisomal biogenesis factor 7
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RTTN rotatin
RUNX2 runt-related transcription factor 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
STAT5B signal transducer and activator of transcription 5B
TBCE tubulin folding cofactor E
TBX6 T-box 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4