severe short stature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. (Human Phenotype Ontology, HP_0003510)
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25 genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CANT1 calcium activated nucleotidase 1
COL2A1 collagen, type II, alpha 1
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
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
FLNB filamin B, beta
GH1 growth hormone 1
GLB1 galactosidase, beta 1
GORAB golgin, RAB6-interacting
IDS iduronate 2-sulfatase
INPPL1 inositol polyphosphate phosphatase-like 1
NIN ninein (GSK3B interacting protein)
PEX7 peroxisomal biogenesis factor 7
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease
STAT5B signal transducer and activator of transcription 5B
TBX6 T-box 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4