holoprosencephaly Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

181 genes co-occuring with the disease holoprosencephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ZIC2 Zic family member 2 3.01927
SHH sonic hedgehog 2.8209
SIX3 SIX homeobox 3 2.77635
GLI2 GLI family zinc finger 2 1.90335
TGIF2 TGFB-induced factor homeobox 2 1.90056
CDON cell adhesion associated, oncogene regulated 1.87194
DISP1 dispatched homolog 1 (Drosophila) 1.7118
TGIF1 TGFB-induced factor homeobox 1 1.70497
TWSG1 twisted gastrulation BMP signaling modulator 1 1.67006
GAS1 growth arrest-specific 1 1.65115
CHRD chordin 1.60636
TDGF1 teratocarcinoma-derived growth factor 1 1.59608
NODAL nodal growth differentiation factor 1.53436
HESX1 HESX homeobox 1 1.53392
LHX3 LIM homeobox 3 1.52776
LHX4 LIM homeobox 4 1.5093
ZIC5 Zic family member 5 1.4913
FGF8 fibroblast growth factor 8 (androgen-induced) 1.3712
PTCH1 patched 1 1.35812
SOX3 SRY (sex determining region Y)-box 3 1.34592
POU1F1 POU class 1 homeobox 1 1.33458
TBX19 T-box 19 1.33021
GLI3 GLI family zinc finger 3 1.29746
DHCR7 7-dehydrocholesterol reductase 1.27519
SNX6 sorting nexin 6 1.25254
PTER phosphotriesterase related 1.24428
ZIC1 Zic family member 1 1.23733
PROP1 PROP paired-like homeobox 1 1.23256
EAPP E2F-associated phosphoprotein 1.22475
HTR5A 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 1.21002
BMP4 bone morphogenetic protein 4 1.20785
MNX1 motor neuron and pancreas homeobox 1 1.14433
OTX2 orthodenticle homeobox 2 1.12614
PWP2 PWP2 periodic tryptophan protein homolog (yeast) 1.12403
UBTD2 ubiquitin domain containing 2 1.08495
GDF1 growth differentiation factor 1 1.08202
FOXG1 forkhead box G1 1.07614
FOXH1 forkhead box H1 1.07614
SEMA4G sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 1.06732
HHIP hedgehog interacting protein 1.05345
TRAPPC10 trafficking protein particle complex 10 1.02692
CFC1 cripto, FRL-1, cryptic family 1 0.958705
NPAS3 neuronal PAS domain protein 3 0.957868
COL26A1 collagen, type XXVI, alpha 1 0.952438
FOXA2 forkhead box A2 0.951604
LRP2 low density lipoprotein receptor-related protein 2 0.948685
GLI1 GLI family zinc finger 1 0.944106
SMO smoothened, frizzled class receptor 0.936214
SLC25A43 solute carrier family 25, member 43 0.909787
FBXW11 F-box and WD repeat domain containing 11 0.890078
PRCP prolylcarboxypeptidase (angiotensinase C) 0.88434
NOG noggin 0.881882
ZIC3 Zic family member 3 0.879424
SOX2 SRY (sex determining region Y)-box 2 0.870825
KAZALD1 Kazal-type serine peptidase inhibitor domain 1 0.863865
IFT172 intraflagellar transport 172 0.854449
BAGE3 B melanoma antigen family, member 3 0.831099
BOC BOC cell adhesion associated, oncogene regulated 0.805667
RAB23 RAB23, member RAS oncogene family 0.804846
MSX2 msh homeobox 2 0.792541
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 0.786394
SAP18 Sin3A-associated protein, 18kDa 0.776977
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 0.770435
TULP3 tubby like protein 3 0.755342
RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic) 0.745172
RANBP17 RAN binding protein 17 0.730571
ZBTB14 zinc finger and BTB domain containing 14 0.716828
BARX1 BARX homeobox 1 0.71078
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 0.694301
TGFB1 transforming growth factor, beta 1 0.692697
ADARB1 adenosine deaminase, RNA-specific, B1 0.676308
SIX6 SIX homeobox 6 0.669538
DHH desert hedgehog 0.656441
OTP orthopedia homeobox 0.654067
EN2 engrailed homeobox 2 0.648138
VAX1 ventral anterior homeobox 1 0.644586
SIX4 SIX homeobox 4 0.632777
RAB10 RAB10, member RAS oncogene family 0.618268
FKBP8 FK506 binding protein 8, 38kDa 0.610057
SIX2 SIX homeobox 2 0.609666
KIF27 kinesin family member 27 0.60303
ICAM5 intercellular adhesion molecule 5, telencephalin 0.60108
NKX2-2 NK2 homeobox 2 0.597181
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.595623
WNT1 wingless-type MMTV integration site family, member 1 0.592116
NEK1 NIMA-related kinase 1 0.591337
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 0.588612
INHBB inhibin, beta B 0.585497
PAX9 paired box 9 0.581217
KIF7 kinesin family member 7 0.577716
WNT8B wingless-type MMTV integration site family, member 8B 0.566831
MTX3 metaxin 3 0.561781
HOXA2 homeobox A2 0.519961
ACVR1C activin A receptor, type IC 0.516879
MARK1 MAP/microtubule affinity-regulating kinase 1 0.501909
AGO2 argonaute RISC catalytic component 2 0.501909
L1CAM L1 cell adhesion molecule 0.499614
LHX2 LIM homeobox 2 0.495793
KLF10 Kruppel-like factor 10 0.495029
MCM8 minichromosome maintenance complex component 8 0.488549
HOXB5 homeobox B5 0.485885
EYA4 EYA transcriptional coactivator and phosphatase 4 0.47753
SIX1 SIX homeobox 1 0.476772
VIPR2 vasoactive intestinal peptide receptor 2 0.475634
AKR1D1 aldo-keto reductase family 1, member D1 0.46655
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) 0.465794
TRPC7 transient receptor potential cation channel, subfamily C, member 7 0.465794
MECOM MDS1 and EVI1 complex locus 0.465794
NKX2-1 NK2 homeobox 1 0.457487
BMPR1A bone morphogenetic protein receptor, type IA 0.454847
SIM1 single-minded family bHLH transcription factor 1 0.43941
ETV3 ets variant 3 0.430017
PRMT2 protein arginine methyltransferase 2 0.429266
DKK1 dickkopf WNT signaling pathway inhibitor 1 0.42814
C21ORF2 chromosome 21 open reading frame 2 0.42589
PITX1 paired-like homeodomain 1 0.41727
GPC5 glypican 5 0.415024
MSX1 msh homeobox 1 0.410535
SMAD2 SMAD family member 2 0.406425
VANGL2 VANGL planar cell polarity protein 2 0.404557
PFKL phosphofructokinase, liver 0.401945
BMPR1B bone morphogenetic protein receptor, type IB 0.398589
PITX2 paired-like homeodomain 2 0.397843
KDM6B lysine (K)-specific demethylase 6B 0.396353
EMX2 empty spiracles homeobox 2 0.390397
SKI SKI proto-oncogene 0.386308
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 0.38111
PAX6 paired box 6 0.37592
FGF1 fibroblast growth factor 1 (acidic) 0.36704
IHH indian hedgehog 0.365932
SYVN1 synovial apoptosis inhibitor 1, synoviolin 0.365562
BMP5 bone morphogenetic protein 5 0.363347
PCDH11Y protocadherin 11 Y-linked 0.356341
KIF3A kinesin family member 3A 0.355972
AVP arginine vasopressin 0.344207
PARD6A par-6 family cell polarity regulator alpha 0.342006
ACVR1B activin A receptor, type IB 0.339806
SIM2 single-minded family bHLH transcription factor 2 0.338341
FLNA filamin A, alpha 0.337975
PAX2 paired box 2 0.337975
STIL SCL/TAL1 interrupting locus 0.337242
POU3F2 POU class 3 homeobox 2 0.337242
OFD1 oral-facial-digital syndrome 1 0.333583
CUBN cubilin (intrinsic factor-cobalamin receptor) 0.32993
RELN reelin 0.32993
SPRY2 sprouty homolog 2 (Drosophila) 0.328105
PTCH2 patched 2 0.327375
WNT3A wingless-type MMTV integration site family, member 3A 0.327375
AMER1 APC membrane recruitment protein 1 0.327375
GHRHR growth hormone releasing hormone receptor 0.324458
PIGN phosphatidylinositol glycan anchor biosynthesis, class N 0.32009
FNDC3A fibronectin type III domain containing 3A 0.316819
HIP1 huntingtin interacting protein 1 0.313915
PCDH11X protocadherin 11 X-linked 0.313552
TLX3 T-cell leukemia homeobox 3 0.292616
NR4A3 nuclear receptor subfamily 4, group A, member 3 0.291898
BMP1 bone morphogenetic protein 1 0.284371
DLX5 distal-less homeobox 5 0.279011
SLC19A1 solute carrier family 19 (folate transporter), member 1 0.276158
SRY sex determining region Y 0.275801
FGFR1 fibroblast growth factor receptor 1 0.267622
ACVR2A activin A receptor, type IIA 0.263722
EN1 engrailed homeobox 1 0.261952
SUFU suppressor of fused homolog (Drosophila) 0.260538
CYS1 cystin 1 0.25983
PCNT pericentrin 0.258064
CLPS colipase, pancreatic 0.242245
NEUROG1 neurogenin 1 0.240148
FOXD3 forkhead box D3 0.229716
DCX doublecortin 0.214297
HHAT hedgehog acyltransferase 0.20658
HOXD13 homeobox D13 0.197099
RLBP1 retinaldehyde binding protein 1 0.189244
SEPT9 septin 9 0.187113
CDC42 cell division cycle 42 0.17952
RHEB Ras homolog enriched in brain 0.178126
CDC25B cell division cycle 25B 0.172544
WNT2 wingless-type MMTV integration site family member 2 0.170544
DSPP dentin sialophosphoprotein 0.169091
NUMB numb homolog (Drosophila) 0.168854
NRL neural retina leucine zipper 0.163729