pectus carinatum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. (Human Phenotype Ontology, HP_0000768)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000768
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AGA aspartylglucosaminidase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP1 bone morphogenetic protein 1
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBS cystathionine-beta-synthase
CHRM3 cholinergic receptor, muscarinic 3
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
DYM dymeclin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBN1 fibrillin 1
FBN2 fibrillin 2
FLNB filamin B, beta
G6PC3 glucose 6 phosphatase, catalytic, 3
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
GUSB glucuronidase, beta
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
MAN2B1 mannosidase, alpha, class 2B, member 1
MEGF8 multiple EGF-like-domains 8
NALCN sodium leak channel, non selective
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
ORC1 origin recognition complex, subunit 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
PTF1A pancreas specific transcription factor, 1a
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
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SBDS Shwachman-Bodian-Diamond syndrome
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SP7 Sp7 transcription factor
TBX3 T-box 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRB thyroid hormone receptor, beta
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNNT1 troponin T type 1 (skeletal, slow)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
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
XYLT1 xylosyltransferase I
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2