Congenital Pectus Excavatum Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0016842
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Genes

269 genes associated with the disease Congenital Pectus Excavatum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ADAMTSL2 ADAMTS-like 2
ADGRG6 adhesion G protein-coupled receptor G6
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
AMER1 APC membrane recruitment protein 1
AR androgen receptor
ARMC4 armadillo repeat containing 4
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GLCT beta 3-glucosyltransferase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BIVM-ERCC5 BIVM-ERCC5 readthrough
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C11ORF70 chromosome 11 open reading frame 70
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC151 coiled-coil domain containing 151
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CD96 CD96 molecule
CDAN1 codanin 1
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CFAP298 cilia and flagella associated protein 298
CFL2 cofilin 2 (muscle)
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
COG4 component of oligomeric golgi complex 4
COL11A2 collagen, type XI, alpha 2
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
CREBBP CREB binding protein
CRTAP cartilage associated protein
CTSA cathepsin A
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHODH dihydroorotate dehydrogenase (quinone)
DMD dystrophin
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF4 dynein axonemal assembly factor 4
DNAAF5 dynein, axonemal, assembly factor 5
DNAH1 dynein, axonemal, heavy chain 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
ELN elastin
EMD emerin
EP300 E1A binding protein p300
ERCC5 excision repair cross-complementation group 5
ERF Ets2 repressor factor
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM120AOS family with sequence similarity 120A opposite strand
FBLN5 fibulin 5
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FZD2 frizzled class receptor 2
GAL3ST4 galactose-3-O-sulfotransferase 4
GAS2L2 growth arrest-specific 2 like 2
GAS8 growth arrest-specific 8
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 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
HNRNPK heterogeneous nuclear ribonucleoprotein K
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HYDIN HYDIN, axonemal central pair apparatus protein
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1R insulin-like growth factor 1 receptor
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
ITGA7 integrin, alpha 7
KAT6B K(lysine) acetyltransferase 6B
KDM5C lysine (K)-specific demethylase 5C
KDM6B lysine (K)-specific demethylase 6B
KIAA0195 KIAA0195
KIF7 kinesin family member 7
KLHL41 kelch-like family member 41
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT7 keratin 7, type II
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMOD3 leiomodin 3 (fetal)
LMX1B LIM homeobox transcription factor 1, beta
LRRC56 leucine rich repeat containing 56
LRRC6 leucine rich repeat containing 6
LZTR1 leucine-zipper-like transcription regulator 1
MAGEL2 melanoma antigen family L2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MFAP5 microfibrillar associated protein 5
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MORC2 MORC family CW-type zinc finger 2
MRAS muscle RAS oncogene homolog
MSTO1 misato 1, mitochondrial distribution and morphology regulator
MYF5 myogenic factor 5
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NEB nebulin
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NME8 NME/NM23 family member 8
NOG noggin
NOTCH3 notch 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUP107 nucleoporin 107kDa
NXN nucleoredoxin
ODAD1 outer dynein arm docking complex subunit 1
OFD1 oral-facial-digital syndrome 1
PACS1 phosphofurin acidic cluster sorting protein 1
PALB2 partner and localizer of BRCA2
PCGF2 polycomb group ring finger 2
PDHX pyruvate dehydrogenase complex, component X
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIH1D3 PIH1 domain containing 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PQBP1 polyglutamine binding protein 1
PROKR2 prokineticin receptor 2
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA2 RAS p21 protein activator 2
RBM10 RNA binding motif protein 10
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
RPGR retinitis pigmentosa GTPase regulator
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH3 radial spoke 3 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SCARF2 scavenger receptor class F, member 2
SCLY selenocysteine lyase
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
SEC23B Sec23 homolog B (S. cerevisiae)
SEC24D SEC24 family member D
SELENON selenoprotein N
SETD5 SET domain containing 5
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIK3 SIK family kinase 3
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
SMAD3 SMAD family member 3
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SPAG1 sperm associated antigen 1
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPRTN SprT-like N-terminal domain
SRY sex determining region Y
STK36 serine/threonine kinase 36
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TAL1 T-cell acute lymphocytic leukemia 1
TBCD tubulin folding cofactor D
TBL2 transducin (beta)-like 2
TBX5 T-box 5
TCF20 transcription factor 20 (AR1)
TCTN3 tectonic family member 3
TELO2 telomere maintenance 2
TGDS TDP-glucose 4,6-dehydratase
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM231 transmembrane protein 231
TMEM43 transmembrane protein 43
TP53 tumor protein p53
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIO trio Rho guanine nucleotide exchange factor
TRIP4 thyroid hormone receptor interactor 4
TSPYL2 TSPY-like 2
TTC25 tetratricopeptide repeat domain 25
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZMYND10 zinc finger, MYND-type containing 10