Brachydactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A bone development disease characterized by short fingers and toes. (Human Disease Ontology, DOID_0050581)
External Link https://www.disgenet.org/browser/0/1/0/C1300267
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Genes

348 genes associated with the disease Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACAN aggrecan
ACSL3 acyl-CoA synthetase long-chain family member 3
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADNP activity-dependent neuroprotector homeobox
AFF4 AF4/FMR2 family, member 4
AHSG alpha-2-HS-glycoprotein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ANKRD11 ankyrin repeat domain 11
ANTXR2 anthrax toxin receptor 2
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARL6 ADP-ribosylation factor-like 6
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GLCT beta 3-glucosyltransferase
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BGN biglycan
BHLHA9 basic helix-loop-helix family, member a9
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1A bone morphogenetic protein receptor, type IA
BMPR1B bone morphogenetic protein receptor, type IB
BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD2 bromodomain containing 2
BTC betacellulin
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CANT1 calcium activated nucleotidase 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCDC22 coiled-coil domain containing 22
CCDC28B coiled-coil domain containing 28B
CEP120 centrosomal protein 120kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A2 collagen, type I, alpha 2
COL25A1 collagen, type XXV, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRIPT cysteine-rich PDZ-binding protein
CRP C-reactive protein, pentraxin-related
CRYGD crystallin, gamma D
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSPP1 centrosome and spindle pole associated protein 1
CTSK cathepsin K
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae)
DCPS decapping enzyme, scavenger
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DLL4 delta-like 4 (Drosophila)
DMP1 dentin matrix acidic phosphoprotein 1
DOCK6 dedicator of cytokinesis 6
DONSON downstream neighbor of SON
DPF2 D4, zinc and double PHD fingers family 2
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHB1 EPH receptor B1
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC2 exosome component 2
EXT1 exostosin glycosyltransferase 1
EXTL3 exostosin-like glycosyltransferase 3
FAM111A family with sequence similarity 111, member A
FAM149B1 family with sequence similarity 149, member B1
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC1 forkhead box C1
FRAS1 Fraser extracellular matrix complex subunit 1
FTO fat mass and obesity associated
FZD1 frizzled class receptor 1
FZD2 frizzled class receptor 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GEM GTP binding protein overexpressed in skeletal muscle
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GLI1 GLI family zinc finger 1
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPC1 glypican 1
GPC4 glypican 4
GPX4 glutathione peroxidase 4
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HIP1 huntingtin interacting protein 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNRNPR heterogeneous nuclear ribonucleoprotein R
HOXA1 homeobox A1
HOXA13 homeobox A13
HOXD13 homeobox D13
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
ICK intestinal cell (MAK-like) kinase
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
IFT57 intraflagellar transport 57
IFT80 intraflagellar transport 80
IFT81 intraflagellar transport 81
IHH indian hedgehog
IL13 interleukin 13
IL2 interleukin 2
INPP5K inositol polyphosphate-5-phosphatase K
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IQSEC2 IQ motif and Sec7 domain 2
ITGB6 integrin, beta 6
JAG1 jagged 1
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KAT8 K(lysine) acetyltransferase 8
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK4 potassium channel, two pore domain subfamily K, member 4
KDM5C lysine (K)-specific demethylase 5C
KDSR 3-ketodihydrosphingosine reductase
KIAA0586 KIAA0586
KIAA0753 KIAA0753
KIF15 kinesin family member 15
KIF7 kinesin family member 7
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMB3 laminin, beta 3
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LONP1 lon peptidase 1, mitochondrial
LTBP2 latent transforming growth factor beta binding protein 2
LTBP3 latent transforming growth factor beta binding protein 3
LZTFL1 leucine zipper transcription factor-like 1
LZTR1 leucine-zipper-like transcription regulator 1
MACROH2A1 macroH2A.1 histone
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MBTPS1 membrane-bound transcription factor peptidase, site 1
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MEGF8 multiple EGF-like-domains 8
MGAM maltase-glucoamylase
MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
MKKS McKusick-Kaufman syndrome
MRAS muscle RAS oncogene homolog
MRPS16 mitochondrial ribosomal protein S16
MUC1 mucin 1, cell surface associated
NBAS neuroblastoma amplified sequence
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NLRC4 NLR family, CARD domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NXN nucleoredoxin
OFD1 oral-facial-digital syndrome 1
PADI4 peptidyl arginine deiminase, type IV
PAH phenylalanine hydroxylase
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK7 parkinson protein 7
PARP1 poly (ADP-ribose) polymerase 1
PAX3 paired box 3
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE3A phosphodiesterase 3A, cGMP-inhibited
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGM3 phosphoglucomutase 3
PHPT1 phosphohistidine phosphatase 1
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX1 paired-like homeodomain 1
PLXND1 plexin D1
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
POGZ pogo transposable element with ZNF domain
POMP proteasome maturation protein
POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
PORCN porcupine homolog (Drosophila)
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRMT7 protein arginine methyltransferase 7
PRPF31 pre-mRNA processing factor 31
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RAB23 RAB23, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RASA2 RAS p21 protein activator 2
RB1 retinoblastoma 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
REN renin
RERE arginine-glutamic acid dipeptide (RE) repeats
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RLIM ring finger protein, LIM domain interacting
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL10 ribosomal protein L10
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
RTTN rotatin
RUNX2 runt-related transcription factor 2
SACS sacsin molecular chaperone
SCAPER S-phase cyclin A-associated protein in the ER
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SI sucrase-isomaltase (alpha-glucosidase)
SIK3 SIK family kinase 3
SIL1 SIL1 nucleotide exchange factor
SIN3A SIN3 transcription regulator family member A
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLURP1 secreted LY6/PLAUR domain containing 1
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNX14 sorting nexin 14
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX3 SRY (sex determining region Y)-box 3
SPART spartin
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SRCAP Snf2-related CREBBP activator protein
STAMBP STAM binding protein
SUFU suppressor of fused homolog (Drosophila)
SYK spleen tyrosine kinase
TBC1D24 TBC1 domain family, member 24
TBCEL tubulin folding cofactor E-like
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBX1 T-box 1
TBX15 T-box 15
TBX22 T-box 22
TCF12 transcription factor 12
TCTEX1D2 Tctex1 domain containing 2
TCTN3 tectonic family member 3
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM216 transmembrane protein 216
TMEM256 transmembrane protein 256
TMEM67 transmembrane protein 67
TMEM8C transmembrane protein 8C
TNNT3 troponin T type 3 (skeletal, fast)
TRIO trio Rho guanine nucleotide exchange factor
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
WASHC5 WASH complex subunit 5
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT4 wingless-type MMTV integration site family, member 4
WNT5A wingless-type MMTV integration site family, member 5A
YY1AP1 YY1 associated protein 1
ZDHHC24 zinc finger, DHHC-type containing 24
ZDHHC9 zinc finger, DHHC-type containing 9
ZFPM2 zinc finger protein, FOG family member 2
ZIC1 Zic family member 1