Congenital Pectus Carinatum Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0158731
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
AGA aspartylglucosaminidase
AGRN agrin
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ARSD arylsulfatase D
ATAD3A ATPase family, AAA domain containing 3A
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BGN biglycan
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBS cystathionine-beta-synthase
CDAN1 codanin 1
CHAT choline O-acetyltransferase
CHRM3 cholinergic receptor, muscarinic 3
COG4 component of oligomeric golgi complex 4
COL11A2 collagen, type XI, alpha 2
COL13A1 collagen, type XIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
CREBBP CREB binding protein
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYM dymeclin
EFL1 elongation factor like GTPase 1
ELAVL2 ELAV like neuron-specific RNA binding protein 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBN1 fibrillin 1
FGF14 fibroblast growth factor 14
FKBP10 FK506 binding protein 10, 65 kDa
FLNB filamin B, beta
FZD2 frizzled class receptor 2
G6PC3 glucose 6 phosphatase, catalytic, 3
GLI3 GLI family zinc finger 3
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
GUSB glucuronidase, beta
GZF1 GDNF-inducible zinc finger protein 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HYOU1 hypoxia up-regulated 1
IHH indian hedgehog
INPP5K inositol polyphosphate-5-phosphatase K
KAT6B K(lysine) acetyltransferase 6B
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LZTR1 leucine-zipper-like transcription regulator 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MBTPS1 membrane-bound transcription factor peptidase, site 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEGF8 multiple EGF-like-domains 8
MFAP5 microfibrillar associated protein 5
MME membrane metallo-endopeptidase
MRAS muscle RAS oncogene homolog
MYO9A myosin IXA
NALCN sodium leak channel, non selective
NEU1 sialidase 1 (lysosomal sialidase)
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NXN nucleoredoxin
ORC1 origin recognition complex, subunit 1
PCGF2 polycomb group ring finger 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PLAA phospholipase A2-activating protein
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA2 RAS p21 protein activator 2
RIT1 Ras-like without CAAX 1
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
SBDS Shwachman-Bodian-Diamond syndrome
SCP2 sterol carrier protein 2
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMAD3 SMAD family member 3
SMS spermine synthase
SNAP25 synaptosomal-associated protein, 25kDa
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX5 SRY (sex determining region Y)-box 5
SP7 Sp7 transcription factor
SRP54 signal recognition particle 54kDa
SYT2 synaptotagmin II
TBCD tubulin folding cofactor D
TBX2 T-box 2
TBX3 T-box 3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGDS TDP-glucose 4,6-dehydratase
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRB thyroid hormone receptor, beta
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNNT1 troponin T type 1 (skeletal, slow)
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZNF292 zinc finger protein 292