agenesis of corpus callosum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. (Human Phenotype Ontology, HP_0001274)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001274
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Genes

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

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ACTB actin, beta
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMT aminomethyltransferase
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C12ORF57 chromosome 12 open reading frame 57
CDON cell adhesion associated, oncogene regulated
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRH corticotropin releasing hormone
DCX doublecortin
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR24 24-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DPYD dihydropyrimidine dehydrogenase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC6 excision repair cross-complementation group 6
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKTN fukutin
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF1 growth differentiation factor 1
GLDC glycine dehydrogenase (decarboxylating)
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPSM2 G-protein signaling modulator 2
HCCS holocytochrome c synthase
HESX1 HESX homeobox 1
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HYLS1 hydrolethalus syndrome 1
IGBP1 immunoglobulin (CD79A) binding protein 1
ISPD isoprenoid synthase domain containing
KAT6B K(lysine) acetyltransferase 6B
KIF7 kinesin family member 7
L1CAM L1 cell adhesion molecule
LRP2 low density lipoprotein receptor-related protein 2
MED12 mediator complex subunit 12
MID1 midline 1
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MPLKIP M-phase specific PLK1 interacting protein
MRPS16 mitochondrial ribosomal protein S16
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NDE1 nudE neurodevelopment protein 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSD1 nuclear receptor binding SET domain protein 1
OFD1 oral-facial-digital syndrome 1
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDYN prodynorphin
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POMT1 protein-O-mannosyltransferase 1
PORCN porcupine homolog (Drosophila)
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RECQL4 RecQ protein-like 4
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SIX3 SIX homeobox 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SOX2 SRY (sex determining region Y)-box 2
SPG11 spastic paraplegia 11 (autosomal recessive)
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
VAX1 ventral anterior homeobox 1
ZBTB18 zinc finger and BTB domain containing 18
ZEB2 zinc finger E-box binding homeobox 2
ZSWIM6 zinc finger, SWIM-type containing 6