Arachnodactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Abnormally long and slender fingers (spider fingers). (Human Phenotype Ontology, HP_0001166)
External Link https://www.disgenet.org/browser/0/1/0/C0003706
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Genes

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTG2 actin, gamma 2, smooth muscle, enteric
AMER1 APC membrane recruitment protein 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL3 additional sex combs like transcriptional regulator 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCR breakpoint cluster region
BMP15 bone morphogenetic protein 15
CBS cystathionine-beta-synthase
CHN1 chimerin 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CNTN1 contactin 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSC cathepsin C
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DSE dermatan sulfate epimerase
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FLNA filamin A, alpha
FOXE3 forkhead box E3
FSHR follicle stimulating hormone receptor
FZD4 frizzled class receptor 4
GP1BB glycoprotein Ib (platelet), beta polypeptide
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HIRA histone cell cycle regulator
JMJD1C jumonji domain containing 1C
KANSL1 KAT8 regulatory NSL complex subunit 1
KIAA0195 KIAA0195
LAGE3 L antigen family, member 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LOX lysyl oxidase
MAPK1 mitogen-activated protein kinase 1
MAT2A methionine adenosyltransferase II, alpha
MED12 mediator complex subunit 12
MFAP5 microfibrillar associated protein 5
MRPS22 mitochondrial ribosomal protein S22
MTM1 myotubularin 1
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
NELFA negative elongation factor complex member A
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSD2 nuclear receptor binding SET domain protein 2
NUP107 nucleoporin 107kDa
OSGEP O-sialoglycoprotein endopeptidase
OTUD6B OTU domain containing 6B
PEPD peptidase D
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRDM5 PR domain containing 5
PRKG1 protein kinase, cGMP-dependent, type I
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
PTCH2 patched 2
PYCR2 pyrroline-5-carboxylate reductase family, member 2
RREB1 ras responsive element binding protein 1
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SEC24C SEC24 family member C
SH2B1 SH2B adaptor protein 1
SIN3A SIN3 transcription regulator family member A
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMS spermine synthase
SON SON DNA binding protein
SPIDR scaffolding protein involved in DNA repair
STRN4 striatin, calmodulin binding protein 4
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUFU suppressor of fused homolog (Drosophila)
TBX1 T-box 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TRIM8 tripartite motif containing 8
UBE3B ubiquitin protein ligase E3B
UFD1 ubiquitin recognition factor in ER associated degradation 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WFS1 Wolfram syndrome 1 (wolframin)
ZDHHC9 zinc finger, DHHC-type containing 9
ZNF469 zinc finger protein 469