abnormality of the nares Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the nostril. (Human Phenotype Ontology, HP_0005288)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005288
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Genes

283 genes associated with the abnormality of the nares phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTSL2 ADAMTS-like 2
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
BCOR BCL6 corepressor
BEST1 bestrophin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2ORF71 chromosome 2 open reading frame 71
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CLCF1 cardiotrophin-like cytokine factor 1
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CSPP1 centrosome and spindle pole associated protein 1
CUL7 cullin 7
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK7 dedicator of cytokinesis 7
ECEL1 endothelin converting enzyme-like 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
FAM111A family with sequence similarity 111, member A
FAM161A family with sequence similarity 161, member A
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
FSCN2 fascin actin-bundling protein 2, retinal
FTO fat mass and obesity associated
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GUCA1B guanylate cyclase activator 1B (retina)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HOXB1 homeobox B1
HRAS Harvey rat sarcoma viral oncogene homolog
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IRX5 iroquois homeobox 5
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIF11 kinesin family member 11
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
LEMD3 LEM domain containing 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LRPPRC leucine-rich pentatricopeptide repeat containing
MAK male germ cell-associated kinase
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MID1 midline 1
MKS1 Meckel syndrome, type 1
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK2 NIMA-related kinase 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
OBSL1 obscurin-like 1
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAX1 paired box 1
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PGAP3 post-GPI attachment to proteins 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PRCD progressive rod-cone degeneration
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRRX1 paired related homeobox 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPRF protein tyrosine phosphatase, receptor type, F
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
RARB retinoic acid receptor, beta
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF135 ring finger protein 135
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAG S-antigen; retina and pineal gland (arrestin)
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SETBP1 SET binding protein 1
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC7A14 solute carrier family 7, member 14
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBX6 T-box 6
TCF4 transcription factor 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TRIP11 thyroid hormone receptor interactor 11
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB24 zinc finger and BTB domain containing 24
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513
ZSWIM6 zinc finger, SWIM-type containing 6