hypoplasia of the corpus callosum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the corpus callosum. (Human Phenotype Ontology, HP_0002079)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002079
Similar Terms
Downloads & Tools

Genes

103 genes associated with the hypoplasia of the corpus callosum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACO2 aconitase 2, mitochondrial
AHDC1 AT hook, DNA binding motif, containing 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALX4 ALX homeobox 4
AMPD2 adenosine monophosphate deaminase 2
AP4B1 adaptor-related protein complex 4, beta 1 subunit
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGAP31 Rho GTPase activating protein 31
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C12ORF65 chromosome 12 open reading frame 65
C2CD3 C2 calcium-dependent domain containing 3
CEP290 centrosomal protein 290kDa
CHMP1A charged multivesicular body protein 1A
CLP1 cleavage and polyadenylation factor I subunit 1
COG4 component of oligomeric golgi complex 4
COX7B cytochrome c oxidase subunit VIIb
CSPP1 centrosome and spindle pole associated protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
DARS aspartyl-tRNA synthetase
DCHS1 dachsous cadherin-related 1
DDHD2 DDHD domain containing 2
DHCR7 7-dehydrocholesterol reductase
DOCK7 dedicator of cytokinesis 7
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EFNB1 ephrin-B1
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
FOXG1 forkhead box G1
GBA2 glucosidase, beta (bile acid) 2
GFM1 G elongation factor, mitochondrial 1
GJC2 gap junction protein, gamma 2, 47kDa
GLUL glutamate-ammonia ligase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPSM2 G-protein signaling modulator 2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IER3IP1 immediate early response 3 interacting protein 1
ISPD isoprenoid synthase domain containing
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD7 potassium channel tetramerization domain containing 7
KIF1BP KIF1 binding protein
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
LYRM7 LYR motif containing 7
MBTPS2 membrane-bound transcription factor peptidase, site 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MRPS22 mitochondrial ribosomal protein S22
NT5C2 5'-nucleotidase, cytosolic II
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PNKP polynucleotide kinase 3'-phosphatase
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PSAP prosaposin
QARS glutaminyl-tRNA synthetase
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SETBP1 SET binding protein 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SNIP1 Smad nuclear interacting protein 1
SOX2 SRY (sex determining region Y)-box 2
SPG11 spastic paraplegia 11 (autosomal recessive)
SPTAN1 spectrin, alpha, non-erythrocytic 1
STAMBP STAM binding protein
STXBP1 syntaxin binding protein 1
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBC1D20 TBC1 domain family, member 20
TCF4 transcription factor 4
TECPR2 tectonin beta-propeller repeat containing 2
TMCO1 transmembrane and coiled-coil domains 1
TRAPPC9 trafficking protein particle complex 9
TREM2 triggering receptor expressed on myeloid cells 2
TUBA1A tubulin, alpha 1a
TUBB2A tubulin, beta 2A class IIa
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TYROBP TYRO protein tyrosine kinase binding protein
UBE3B ubiquitin protein ligase E3B
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
ZBTB20 zinc finger and BTB domain containing 20
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZSWIM6 zinc finger, SWIM-type containing 6