abnormality of the nasal tip Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the nasal tip. (Human Phenotype Ontology, HP_0000436)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000436
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Genes

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

Symbol Name
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCOR BCL6 corepressor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COLEC11 collectin sub-family member 11
CPT2 carnitine palmitoyltransferase 2
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOK7 docking protein 7
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
FBN1 fibrillin 1
FLNB filamin B, beta
FREM1 FRAS1 related extracellular matrix 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
ICK intestinal cell (MAK-like) kinase
IDUA iduronidase, alpha-L-
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM6A lysine (K)-specific demethylase 6A
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
KMT2D lysine (K)-specific methyltransferase 2D
KPTN kaptin (actin binding protein)
LRP2 low density lipoprotein receptor-related protein 2
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
MMP2 matrix metallopeptidase 2
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OBSL1 obscurin-like 1
PGAP3 post-GPI attachment to proteins 3
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTPRF protein tyrosine phosphatase, receptor type, F
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RNF135 ring finger protein 135
SATB2 SATB homeobox 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNIP1 Smad nuclear interacting protein 1
SRD5A3 steroid 5 alpha-reductase 3
TBC1D24 TBC1 domain family, member 24
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGIF1 TGFB-induced factor homeobox 1
TP63 tumor protein p63
TWIST2 twist family bHLH transcription factor 2
ZEB2 zinc finger E-box binding homeobox 2
ZSWIM6 zinc finger, SWIM-type containing 6