pyloric stenosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002021
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Genes

61 genes associated with the pyloric stenosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BCR breakpoint cluster region
CCBE1 collagen and calcium binding EGF domains 1
COL18A1 collagen, type XVIII, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
FAT4 FAT atypical cadherin 4
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA3 GATA binding protein 3
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HNF1B HNF1 homeobox B
HRAS Harvey rat sarcoma viral oncogene homolog
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LTBP4 latent transforming growth factor beta binding protein 4
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MTM1 myotubularin 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NIPBL Nipped-B homolog (Drosophila)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
OTC ornithine carbamoyltransferase
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PRDM16 PR domain containing 16
PTRF polymerase I and transcript release factor
RAD21 RAD21 homolog (S. pombe)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SH2B1 SH2B adaptor protein 1
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TBX3 T-box 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)