Absence Of Septum Pellucidum Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0431371
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Genes

83 genes associated with the disease Absence Of Septum Pellucidum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
C12ORF4 chromosome 12 open reading frame 4
CC2D1A coiled-coil and C2 domain containing 1A
CHD7 chromodomain helicase DNA binding protein 7
CLIP1 CAP-GLY domain containing linker protein 1
COL4A1 collagen, type IV, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CPLX1 complexin 1
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding protein 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCPS decapping enzyme, scavenger
DHCR24 24-dehydrocholesterol reductase
EDC3 enhancer of mRNA decapping 3
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
EZR ezrin
FANCI Fanconi anemia, complementation group I
FBXO31 F-box protein 31
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKRP fukutin related protein
FKTN fukutin
FMN2 formin 2
FRRS1L ferric-chelate reductase 1-like
GRIK2 glutamate receptor, ionotropic, kainate 2
HCCS holocytochrome c synthase
HESX1 HESX homeobox 1
HNMT histamine N-methyltransferase
HYLS1 hydrolethalus syndrome 1
ISPD isoprenoid synthase domain containing
KDM5B lysine (K)-specific demethylase 5B
KIAA0586 KIAA0586
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
MAN1B1 mannosidase, alpha, class 1B, member 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
METTL23 methyltransferase like 23
MUSK muscle, skeletal, receptor tyrosine kinase
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NSD2 nuclear receptor binding SET domain protein 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PGAP1 post-GPI attachment to proteins 1
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSAT1 phosphoserine aminotransferase 1
PTDSS1 phosphatidylserine synthase 1
RALGAPB Ral GTPase activating protein, beta subunit (non-catalytic)
RSRC1 arginine/serine-rich coiled-coil 1
SARS1 seryl-tRNA synthetase 1
SLC45A1 solute carrier family 45, member 1
SSR4 signal sequence receptor, delta
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
TECR trans-2,3-enoyl-CoA reductase
TMEM5 transmembrane protein 5
TNIK TRAF2 and NCK interacting kinase
TRAPPC9 trafficking protein particle complex 9
TUSC3 tumor suppressor candidate 3
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
ZC3H14 zinc finger CCCH-type containing 14