pectus excavatum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. (Human Phenotype Ontology, HP_0000767)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000767
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Genes

135 genes associated with the pectus excavatum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACTA1 actin, alpha 1, skeletal muscle
ADAMTSL2 ADAMTS-like 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
AMER1 APC membrane recruitment protein 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CD96 CD96 molecule
CHRM3 cholinergic receptor, muscarinic 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLIP2 CAP-GLY domain containing linker protein 2
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
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
CREBBP CREB binding protein
CRTAP cartilage associated protein
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHODH dihydroorotate dehydrogenase (quinone)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
ELN elastin
EMD emerin
FAM20C family with sequence similarity 20, member C
FBLN5 fibulin 5
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR3 fibroblast growth factor receptor 3
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HACD1 3-hydroxyacyl-CoA dehydratase 1
HDAC8 histone deacetylase 8
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1R insulin-like growth factor 1 receptor
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
IRX5 iroquois homeobox 5
ITGA7 integrin, alpha 7
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KDM5C lysine (K)-specific demethylase 5C
KIF7 kinesin family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PDHX pyruvate dehydrogenase complex, component X
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPIB peptidylprolyl isomerase B (cyclophilin B)
PQBP1 polyglutamine binding protein 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SCARF2 scavenger receptor class F, member 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEPN1 selenoprotein N, 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
TBL2 transducin (beta)-like 2
TBX5 T-box 5
TCTN3 tectonic family member 3
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2