short nose Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. (Human Phenotype Ontology, HP_0003196)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003196
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Genes

146 genes associated with the short nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACTB actin, beta
ADAMTSL2 ADAMTS-like 2
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
B3GALTL beta 1,3-galactosyltransferase-like
BLM Bloom syndrome, RecQ helicase-like
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCDC22 coiled-coil domain containing 22
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP57 centrosomal protein 57kDa
CLP1 cleavage and polyadenylation factor I subunit 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COX7B cytochrome c oxidase subunit VIIb
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR24 24-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERF Ets2 repressor factor
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GGCX gamma-glutamyl carboxylase
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HIC1 hypermethylated in cancer 1
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBD5 methyl-CpG binding domain protein 5
MEF2C myocyte enhancer factor 2C
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPLKIP M-phase specific PLK1 interacting protein
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NALCN sodium leak channel, non selective
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OFD1 oral-facial-digital syndrome 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAX3 paired box 3
PDE4D phosphodiesterase 4D, cAMP-specific
PEPD peptidase D
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POU1F1 POU class 1 homeobox 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
SC5D sterol-C5-desaturase
SETBP1 SET binding protein 1
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
STAMBP STAM binding protein
TBC1D20 TBC1 domain family, member 20
TCTN3 tectonic family member 3
TMCO1 transmembrane and coiled-coil domains 1
TRIP11 thyroid hormone receptor interactor 11
UBA1 ubiquitin-like modifier activating enzyme 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB24 zinc finger and BTB domain containing 24
ZDHHC15 zinc finger, DHHC-type containing 15
ZMPSTE24 zinc metallopeptidase STE24