Gene | OMIM phenotypes associated with the gene | GWASs identifying the gene | ||
---|---|---|---|---|
 | Number | Example stature phenotypea | Number | Reference(s) |
ACAN (aggrecan) | 3 | Spondyloepimetaphyseal dysplasia, aggrecan type (-) (OMIM 612813) | 4 | |
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif, 10) | 1 | Weill-Marchesani syndrome 1, recessive (-) (OMIM 277600) | 2 | |
ARSE (arylsulfatase E) (chondrodysplasia punctata 1) | 1 | Chondrodysplasia punctata, X-linked recessive (-) (OMIM 302950) | 2 | |
BBS1 (Bardet-Biedl syndrome 1) | 1 | Bardet-Biedl syndrome 1 (-) (OMIM 209900) | 1 | [109] |
BBS7 (Bardet-Biedl syndrome 7) | 1 | Bardet-Biedl syndrome 7 (-) (OMIM 209900) | 1 | [109] |
BRCA2 (breast cancer 2, early onset) | 9 | Fanconi anemia, complementation group D1 (-) (OMIM 605724) | 1 | [7] |
COL11A1 (collagen, type XI, alpha 1) | 4 | Fibrochondrogenesis (-) (OMIM 228520) | 1 | [113] |
CYP19A1 (cytochrome P450, family 19, subfamily A, polypeptide 1) | 2 | Aromatase deficiency (-) (OMIM 613546) | 3 | |
DYM (dymeclin) | 2 | Smith-McCort dysplasia (-) (OMIM 607326) | 4 | |
EIF2AK3 (eukaryotic translation initiation factor 20alpha kinase 3) | 1 | Wolcott-Rallison syndrome (-) (OMIM 226980) | 2 | |
EXT1 (exostosin 1) | 2 | Exostoses, multiple, type 1 (-) (OMIM 133700) | 1 | [115] |
FANCC (Fanconi anemia, complementation group C) | 1 | Franconi anemia, complementation group C (-) (OMIM 227645) | 1 | [7] |
FANCE (Fanconi anemia, complementation group E) | 1 | Franconi anemia, complementation group E (-) (OMIM 600901) | 1 | [7] |
FBN2 (fibrillin 2) | 1 | Contractural arachnodactyly, congenital (+) (OMIM 121050) | 1 | [110] |
FGFR3 (fibroblast growth factor receptor 2) | 13 | Achondroplasia (-) (Table 1) | 1 | [7] |
FLNB (fibamin B, beta) | 5 | Larsen syndrome (-) (OMIM 150250) | 1 | [116] |
GALNS (galactosamine (N-acetyl)-6-sulfate sulfatase) | 1 | Mucopolysaccharidosis IVA (-) (OMIM 253000) | 1 | [7] |
GDF5 (growth differentiation factor 5) | 8 | Acromesomelic dysplasia, Hunter-Thompson type (-) (OMIM 201250) | 1 | [7] |
GH1 (growth hormone 1) | 4 | Growth hormone deficiency, isolated, type IA (-) (OMIM 262400) | 1 | [109] |
GHR (growth hormone receptor) | 4 | Laron dwarfism (-) (OMIM 262500) | 1 | [109] |
GHSR (growth hormone secretagogue receptor) | 1 | Short stature (-) (OMIM 604271) | 2 | |
HMGA2 (high-mobility group AT-hook 2) | 1 | Leiomyoma, uterine, somaticb (-) (OMIM 150699) | 9e | |
IHH (Indian hedgehog) | 2 | Acrocapitofemoral dysplasia (-) (OMIM 607778) | 2 | |
KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2) | 3 | Atrial fibrillation, familial, 9 (-) (OMIM 613980) | 1 | [7] |
PTCH1 (patched 1) | 3 | Basal cell nevus syndromec (-) (OMIM 109400) | 3e | |
RNF135 (ring finger protein 135) | 1 | Macrocephaly, macrosomia, facial dysmorphism syndrome (+) (OMIM 614192) | 1 | [7] |
RPL5 (ribosomal protein L5) | 1 | Diamond-Blackfan anemia 6d (-) (OMIM 612561) | 1 | [7] |
RUNX2 (runt-related transcription factor 2) | 2 | Cleidocranial dysplasia (-) (OMIM 119600) | 1 | [7] |
SLC39A13 (solute carrier family 39 (zinc transporter), member 13) | 1 | Spondylocheirodysplasia, Ehlers-Danlos syndrome-like (-) (OMIM 612350) | 1 | [7] |
TBX15 (T-box 15) | 1 | Cousin syndrome (-) (OMIM 260660) | 2 |