Brachyolmia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (Human Disease Ontology, DOID_0050690)
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Genes

111 genes co-occuring with the disease Brachyolmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
TRPV4 transient receptor potential cation channel, subfamily V, member 4 3.218
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 3.043
LTBP3 latent transforming growth factor beta binding protein 3 2.39
LTBP2 latent transforming growth factor beta binding protein 2 2.239
PACSIN3 protein kinase C and casein kinase substrate in neurons 3 2.157
ZNF736 zinc finger protein 736 2.068
ZNF594 zinc finger protein 594 1.934
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 1.918
IGFL3 IGF-like family member 3 1.892
TRPV3 transient receptor potential cation channel, subfamily V, member 3 1.871
SLC26A2 solute carrier family 26 (anion exchanger), member 2 1.829
TRPV2 transient receptor potential cation channel, subfamily V, member 2 1.775
MCOLN3 mucolipin 3 1.663
ACAN aggrecan 1.657
MCOLN1 mucolipin 1 1.64
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 1.623
TRPV6 transient receptor potential cation channel, subfamily V, member 6 1.618
SLC10A7 solute carrier family 10, member 7 1.614
IHH indian hedgehog 1.576
WDR72 WD repeat domain 72 1.564
CABP2 calcium binding protein 2 1.549
TRPV1 transient receptor potential cation channel, subfamily V, member 1 1.528
TRPC1 transient receptor potential cation channel, subfamily C, member 1 1.51
COL2A1 collagen, type II, alpha 1 1.504
SDK2 sidekick cell adhesion molecule 2 1.498
TPST2 tyrosylprotein sulfotransferase 2 1.442
TRPA1 transient receptor potential cation channel, subfamily A, member 1 1.438
ZNF717 zinc finger protein 717 1.434
TRPM8 transient receptor potential cation channel, subfamily M, member 8 1.433
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 1.432
PIEZO2 piezo-type mechanosensitive ion channel component 2 1.428
TRPM3 transient receptor potential cation channel, subfamily M, member 3 1.402
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 1.391
SOX9 SRY (sex determining region Y)-box 9 1.364
PKD2L1 polycystic kidney disease 2-like 1 1.359
ZNF385C zinc finger protein 385C 1.355
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 1.33
TMEM165 transmembrane protein 165 1.328
SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 1.308
TRPC4 transient receptor potential cation channel, subfamily C, member 4 1.305
TRAPPC2 trafficking protein particle complex 2 1.304
CHPF2 chondroitin polymerizing factor 2 1.298
CALM3 calmodulin 3 (phosphorylase kinase, delta) 1.296
FST follistatin 1.295
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.295
TRPC3 transient receptor potential cation channel, subfamily C, member 3 1.293
CALML6 calmodulin-like 6 1.292
CALML4 calmodulin-like 4 1.292
TRPC6 transient receptor potential cation channel, subfamily C, member 6 1.292
CALML3 calmodulin-like 3 1.29
CALML5 calmodulin-like 5 1.289
DLX3 distal-less homeobox 3 1.276
OS9 osteosarcoma amplified 9, endoplasmic reticulum lectin 1.262
ARSB arylsulfatase B 1.259
ANXA8L1 annexin A8-like 1 1.255
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 1.254
B3GAT3 beta-1,3-glucuronyltransferase 3 1.251
S100A3 S100 calcium binding protein A3 1.246
MBD3L5 methyl-CpG binding domain protein 3-like 5 1.234
PKD2 polycystic kidney disease 2 (autosomal dominant) 1.233
ADAMTSL2 ADAMTS-like 2 1.229
PTH1R parathyroid hormone 1 receptor 1.223
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 1.22
MAP7 microtubule-associated protein 7 1.215
TRPM7 transient receptor potential cation channel, subfamily M, member 7 1.204
HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 1.204
CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 1.204
TRPM6 transient receptor potential cation channel, subfamily M, member 6 1.192
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.189
PRRC1 proline-rich coiled-coil 1 1.162
EXTL1 exostosin-like glycosyltransferase 1 1.159
RPS4Y1 ribosomal protein S4, Y-linked 1 1.15
TPM3 tropomyosin 3 1.144
PXYLP1 2-phosphoxylose phosphatase 1 1.142
AMTN amelotin 1.133
HOXD8 homeobox D8 1.131
TRPM4 transient receptor potential cation channel, subfamily M, member 4 1.126
SLC26A1 solute carrier family 26 (anion exchanger), member 1 1.125
HOXB6 homeobox B6 1.124
HS6ST1 heparan sulfate 6-O-sulfotransferase 1 1.123
EXTL2 exostosin-like glycosyltransferase 2 1.121
DYM dymeclin 1.115
MBTPS2 membrane-bound transcription factor peptidase, site 2 1.114
SNORC secondary ossification center associated regulator of chondrocyte maturation 1.103
FAM20B family with sequence similarity 20, member B 1.103
COL10A1 collagen, type X, alpha 1 1.101
FAM20C family with sequence similarity 20, member C 1.095
SULT1C3 sulfotransferase family, cytosolic, 1C, member 3 1.093
XYLT1 xylosyltransferase I 1.09
COL9A3 collagen, type IX, alpha 3 1.088
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 1.083
HOXC4 homeobox C4 1.077
ENAM enamelin 1.076
KALRN kalirin, RhoGEF kinase 1.075
HOXA4 homeobox A4 1.072
COL9A2 collagen, type IX, alpha 2 1.07
SP9 Sp9 transcription factor 1.069
HOXB2 homeobox B2 1.058
SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 1.056
DSE dermatan sulfate epimerase 1.056
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 1.055
OBSL1 obscurin-like 1 1.048
KCNJ18 potassium channel, inwardly rectifying subfamily J, member 18 1.043
COL11A1 collagen, type XI, alpha 1 1.039
SHOX short stature homeobox 1.037
NPR2 natriuretic peptide receptor 2 1.027
TRPC5 transient receptor potential cation channel, subfamily C, member 5 1.024
CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 1.013
HSPB8 heat shock 22kDa protein 8 1.012
FGFR3 fibroblast growth factor receptor 3 1.012
HS2ST1 heparan sulfate 2-O-sulfotransferase 1 1.009