abnormality of the nasal dorsum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the nasal dorsum, also known as the nasal ridge. (Human Phenotype Ontology, HP_0011119)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011119
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALX4 ALX homeobox 4
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASPH aspartate beta-hydroxylase
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BANF1 barrier to autointegration factor 1
BMPER BMP binding endothelial regulator
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
CC2D2A coiled-coil and C2 domain containing 2A
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
CREBBP CREB binding protein
DNA2 DNA replication helicase/nuclease 2
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EP300 E1A binding protein p300
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC2 excision repair cross-complementation group 2
ERF Ets2 repressor factor
FAM20C family with sequence similarity 20, member C
FBXL4 F-box and leucine-rich repeat protein 4
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXC1 forkhead box C1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GHR growth hormone receptor
GLB1 galactosidase, beta 1
HDAC6 histone deacetylase 6
HSPG2 heparan sulfate proteoglycan 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
MAN2B1 mannosidase, alpha, class 2B, member 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEIS2 Meis homeobox 2
MKS1 Meckel syndrome, type 1
MPST mercaptopyruvate sulfurtransferase
NBN nibrin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHEJ1 nonhomologous end-joining factor 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
PAX3 paired box 3
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PEPD peptidase D
PEX12 peroxisomal biogenesis factor 12
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
PTF1A pancreas specific transcription factor, 1a
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RBBP8 retinoblastoma binding protein 8
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
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
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SNAP29 synaptosomal-associated protein, 29kDa
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SULF1 sulfatase 1
TBCE tubulin folding cofactor E
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
THRB thyroid hormone receptor, beta
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24