Rhizomelia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). (Human Phenotype Ontology, HP_0008905)
External Link https://www.disgenet.org/browser/0/1/0/C1866730
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Genes

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

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
AGPS alkylglycerone phosphate synthase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ARCN1 archain 1
B3GLCT beta 3-glucosyltransferase
C21ORF2 chromosome 21 open reading frame 2
CEP120 centrosomal protein 120kDa
CEP57 centrosomal protein 57kDa
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COG1 component of oligomeric golgi complex 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRTAP cartilage associated protein
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
EBP emopamil binding protein (sterol isomerase)
EXTL3 exostosin-like glycosyltransferase 3
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FZD2 frizzled class receptor 2
GDF5 growth differentiation factor 5
GNPAT glyceronephosphate O-acyltransferase
GPC6 glypican 6
GPX4 glutathione peroxidase 4
GSC goosecoid homeobox
HDAC6 histone deacetylase 6
ICK intestinal cell (MAK-like) kinase
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
IFT80 intraflagellar transport 80
INPPL1 inositol polyphosphate phosphatase-like 1
KMT2A lysine (K)-specific methyltransferase 2A
KYNU kynureninase
LBR lamin B receptor
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP13 matrix metallopeptidase 13
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYSM1 Myb-like, SWIRM and MPN domains 1
P3H1 prolyl 3-hydroxylase 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEX7 peroxisomal biogenesis factor 7
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
SIK3 SIK family kinase 3
SMC1A structural maintenance of chromosomes 1A
TBX15 T-box 15
TONSL tonsoku-like, DNA repair protein
TRIP11 thyroid hormone receptor interactor 11
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35