short foot Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). (Human Phenotype Ontology, HP_0001773)
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63 genes associated with the short foot phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARL6 ADP-ribosylation factor-like 6
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
CCBE1 collagen and calcium binding EGF domains 1
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
CUL4B cullin 4B
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FMR1 fragile X mental retardation 1
GDF5 growth differentiation factor 5
GPC3 glypican 3
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
LIG4 ligase IV, DNA, ATP-dependent
LZTFL1 leucine zipper transcription factor-like 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NDN necdin, melanoma antigen (MAGE) family member
NGLY1 N-glycanase 1
NOG noggin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
RECQL4 RecQ protein-like 4
SETBP1 SET binding protein 1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SPG20 spastic paraplegia 20 (Troyer syndrome)
SULF1 sulfatase 1
TBCE tubulin folding cofactor E
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TTC8 tetratricopeptide repeat domain 8
UBE2A ubiquitin-conjugating enzyme E2A
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR81 WD repeat domain 81
WNT7A wingless-type MMTV integration site family, member 7A
ZDHHC15 zinc finger, DHHC-type containing 15