Holoprosencephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (Human Disease Ontology, DOID_4621)
External Link https://www.disgenet.org/browser/0/1/0/C1834877
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Genes

107 genes associated with the disease Holoprosencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ARID1A AT rich interactive domain 1A (SWI-like)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BOC BOC cell adhesion associated, oncogene regulated
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CAT catalase
CDON cell adhesion associated, oncogene regulated
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CNOT1 CCR4-NOT transcription complex, subunit 1
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DHCR7 7-dehydrocholesterol reductase
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLL1 delta-like 1 (Drosophila)
EAPP E2F-associated phosphoprotein
EYA4 EYA transcriptional coactivator and phosphatase 4
FBXW11 F-box and WD repeat domain containing 11
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FOXA2 forkhead box A2
FOXG1 forkhead box G1
FOXH1 forkhead box H1
GAS1 growth arrest-specific 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GPKOW G patch domain and KOW motifs
GSK3B glycogen synthase kinase 3 beta
HESX1 HESX homeobox 1
HOXA2 homeobox A2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ICK intestinal cell (MAK-like) kinase
IL10 interleukin 10
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KMT2D lysine (K)-specific methyltransferase 2D
KRIT1 KRIT1, ankyrin repeat containing
L1CAM L1 cell adhesion molecule
LARGE like-glycosyltransferase
LHX4 LIM homeobox 4
LRP2 low density lipoprotein receptor-related protein 2
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
MATN4 matrilin 4
MNX1 motor neuron and pancreas homeobox 1
MOGS mannosyl-oligosaccharide glucosidase
NODAL nodal growth differentiation factor
NOG noggin
NR4A3 nuclear receptor subfamily 4, group A, member 3
OSCP1 organic solute carrier partner 1
OTX2 orthodenticle homeobox 2
PAX2 paired box 2
PGAP1 post-GPI attachment to proteins 1
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PLTP phospholipid transfer protein
POMC proopiomelanocortin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU1F1 POU class 1 homeobox 1
PPP1R12A protein phosphatase 1, regulatory subunit 12A
PROP1 PROP paired-like homeobox 1
PRRX1 paired related homeobox 1
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTCH1 patched 1
RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)
RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic)
RB1 retinoblastoma 1
RFX4 regulatory factor X, 4 (influences HLA class II expression)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPT9 septin 9
SHH sonic hedgehog
SIM2 single-minded family bHLH transcription factor 2
SIX3 SIX homeobox 3
SMAD2 SMAD family member 2
SMC1A structural maintenance of chromosomes 1A
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
STAG2 stromal antigen 2
STIL SCL/TAL1 interrupting locus
SUFU suppressor of fused homolog (Drosophila)
TCTN1 tectonic family member 1
TCTN3 tectonic family member 3
TDGF1 teratocarcinoma-derived growth factor 1
TGIF1 TGFB-induced factor homeobox 1
TGIF2 TGFB-induced factor homeobox 2
TRIP13 thyroid hormone receptor interactor 13
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
UCN2 urocortin 2
VIP vasoactive intestinal peptide
VIPR2 vasoactive intestinal peptide receptor 2
WDR81 WD repeat domain 81
WIF1 WNT inhibitory factor 1
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZIC5 Zic family member 5