defect in the atrial septum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001631
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Genes

186 genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACTC1 actin, alpha, cardiac muscle 1
ADAMTSL2 ADAMTS-like 2
ADK adenosine kinase
AGGF1 angiogenic factor with G patch and FHA domains 1
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ARHGAP31 Rho GTPase activating protein 31
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTCF CCCTC-binding factor (zinc finger protein)
DHCR7 7-dehydrocholesterol reductase
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DSE dermatan sulfate epimerase
ECE1 endothelin converting enzyme 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKTN fukutin
FLNB filamin B, beta
FOXC1 forkhead box C1
FOXF1 forkhead box F1
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IMPAD1 inositol monophosphatase domain containing 1
IRX5 iroquois homeobox 5
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MKKS McKusick-Kaufman syndrome
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MPST mercaptopyruvate sulfurtransferase
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCNT pericentrin
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PQBP1 polyglutamine binding protein 1
PTF1A pancreas specific transcription factor, 1a
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SH2B1 SH2B adaptor protein 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMN1 survival of motor neuron 1, telomeric
SRCAP Snf2-related CREBBP activator protein
STAMBP STAM binding protein
STK4 serine/threonine kinase 4
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX20 T-box 20
TBX22 T-box 22
TBX4 T-box 4
TBX5 T-box 5
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLL1 tolloid-like 1
TMCO1 transmembrane and coiled-coil domains 1
TSFM Ts translation elongation factor, mitochondrial
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WT1 Wilms tumor 1
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZMPSTE24 zinc metallopeptidase STE24