aplasia/hypoplasia involving the nose Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment or absence of the nose or parts thereof. (Human Phenotype Ontology, HP_0009924)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009924
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56 genes associated with the aplasia/hypoplasia involving the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
ANKRD11 ankyrin repeat domain 11
BCR breakpoint cluster region
BMP4 bone morphogenetic protein 4
CENPJ centromere protein J
CLP1 cleavage and polyadenylation factor I subunit 1
COL11A1 collagen, type XI, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DHCR24 24-dehydrocholesterol reductase
EDA ectodysplasin A
EDN3 endothelin 3
EDNRB endothelin receptor type B
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM111A family with sequence similarity 111, member A
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GRIP1 glutamate receptor interacting protein 1
HDAC4 histone deacetylase 4
MAPK1 mitogen-activated protein kinase 1
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MITF microphthalmia-associated transcription factor
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NOG noggin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
ORC4 origin recognition complex, subunit 4
OTX2 orthodenticle homeobox 2
PAX3 paired box 3
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLEC plectin
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
SCARF2 scavenger receptor class F, member 2
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SOX10 SRY (sex determining region Y)-box 10
SRCAP Snf2-related CREBBP activator protein
TBX1 T-box 1
TGIF1 TGFB-induced factor homeobox 1
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
UBR1 ubiquitin protein ligase E3 component n-recognin 1
USH1G Usher syndrome 1G (autosomal recessive)
WNT3 wingless-type MMTV integration site family, member 3