Anencephaly Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

347 genes co-occuring with the disease Anencephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
AFP alpha-fetoprotein 2.671
VANGL1 VANGL planar cell polarity protein 1 2.593
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 2.592
SHROOM3 shroom family member 3 2.572
VANGL2 VANGL planar cell polarity protein 2 2.563
GRHL3 grainyhead-like 3 (Drosophila) 2.505
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 2.396
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 2.273
FZD6 frizzled class receptor 6 2.234
SCRIB scribbled planar cell polarity protein 2.227
PRICKLE1 prickle homolog 1 (Drosophila) 2.222
TRIM36 tripartite motif containing 36 2.202
ZIC2 Zic family member 2 2.161
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.137
SHH sonic hedgehog 2.117
KIF7 kinesin family member 7 2.078
GLDC glycine dehydrogenase (decarboxylating) 2.063
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 2.063
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 2.023
PAX3 paired box 3 2.015
PRICKLE2 prickle homolog 2 (Drosophila) 1.973
PRICKLE4 prickle homolog 4 (Drosophila) 1.954
DVL1 dishevelled segment polarity protein 1 1.934
SELENOH selenoprotein H 1.932
DVL2 dishevelled segment polarity protein 2 1.922
PRICKLE3 prickle homolog 3 (Drosophila) 1.917
PTK7 protein tyrosine kinase 7 (inactive) 1.911
FOLR1 folate receptor 1 (adult) 1.901
NUAK2 NUAK family, SNF1-like kinase, 2 1.898
ARX aristaless related homeobox 1.879
PAX6 paired box 6 1.863
FOLR2 folate receptor 2 (fetal) 1.86
NAP1L2 nucleosome assembly protein 1-like 2 1.855
SLC19A1 solute carrier family 19 (folate transporter), member 1 1.851
HYLS1 hydrolethalus syndrome 1 1.834
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 1.825
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 1.816
DHFR dihydrofolate reductase 1.811
OTX2 orthodenticle homeobox 2 1.807
ALX1 ALX homeobox 1 1.788
ACHE acetylcholinesterase (Yt blood group) 1.785
FLVCR1 feline leukemia virus subgroup C cellular receptor 1 1.785
DVL3 dishevelled segment polarity protein 3 1.782
CEP55 centrosomal protein 55kDa 1.76
SLC46A1 solute carrier family 46 (folate transporter), member 1 1.757
DHFR2 dihydrofolate reductase 2 1.755
FZD3 frizzled class receptor 3 1.754
MID1 midline 1 1.749
CECR2 cat eye syndrome chromosome region, candidate 2 1.745
TMEM67 transmembrane protein 67 1.74
ALX3 ALX homeobox 3 1.729
TULP3 tubby like protein 3 1.726
SHMT1 serine hydroxymethyltransferase 1 (soluble) 1.723
FOXN1 forkhead box N1 1.7
GLI3 GLI family zinc finger 3 1.694
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 1.688
RPGRIP1L RPGRIP1-like 1.667
ITPK1 inositol-tetrakisphosphate 1-kinase 1.657
PAPPA pregnancy-associated plasma protein A, pappalysin 1 1.65
BHMT betaine--homocysteine S-methyltransferase 1.629
COL4A1 collagen, type IV, alpha 1 1.617
DACT1 dishevelled-binding antagonist of beta-catenin 1 1.611
CC2D2A coiled-coil and C2 domain containing 2A 1.601
TUBA1A tubulin, alpha 1a 1.599
AKAIN1 A-kinase anchor inhibitor 1 1.596
C2CD3 C2 calcium-dependent domain containing 3 1.59
KIAA0586 KIAA0586 1.583
CLUL1 clusterin-like 1 (retinal) 1.58
SLC15A5 solute carrier family 15, member 5 1.577
CD320 CD320 molecule 1.571
FZD9 frizzled class receptor 9 1.567
SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32 1.566
PTPRU protein tyrosine phosphatase, receptor type, U 1.558
LRP6 low density lipoprotein receptor-related protein 6 1.555
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1.554
EFNA5 ephrin-A5 1.548
NDE1 nudE neurodevelopment protein 1 1.547
WDR62 WD repeat domain 62 1.538
HES3 hes family bHLH transcription factor 3 1.529
PARD3 par-3 family cell polarity regulator 1.528
ZIC1 Zic family member 1 1.521
CDON cell adhesion associated, oncogene regulated 1.514
SIX3 SIX homeobox 3 1.513
ARL13B ADP-ribosylation factor-like 13B 1.512
FREM2 FRAS1 related extracellular matrix protein 2 1.511
GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 1.51
GRHL2 grainyhead-like 2 (Drosophila) 1.506
TMEM216 transmembrane protein 216 1.5
SLC35B1 solute carrier family 35, member B1 1.498
GCSH glycine cleavage system protein H (aminomethyl carrier) 1.497
LRP2 low density lipoprotein receptor-related protein 2 1.494
FOXG1 forkhead box G1 1.493
FGF8 fibroblast growth factor 8 (androgen-induced) 1.491
SLC49A3 solute carrier family 49 member 3 1.49
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 1.481
ZIC3 Zic family member 3 1.481
MID2 midline 2 1.481
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 1.474
SEC24B SEC24 family member B 1.474
RARG retinoic acid receptor, gamma 1.47
CDX4 caudal type homeobox 4 1.466
FOLR3 folate receptor 3 (gamma) 1.464
TCN2 transcobalamin II 1.463
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 1.463
OXT oxytocin/neurophysin I prepropeptide 1.446
PHACTR4 phosphatase and actin regulator 4 1.446
PTCH1 patched 1 1.439
MARCKSL1 MARCKS-like 1 1.432
TTC21B tetratricopeptide repeat domain 21B 1.428
BMP4 bone morphogenetic protein 4 1.426
TP53 tumor protein p53 1.425
SPHKAP SPHK1 interactor, AKAP domain containing 1.42
EPHA7 EPH receptor A7 1.418
ANKRD6 ankyrin repeat domain 6 1.417
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 1.416
TCTN2 tectonic family member 2 1.414
MARCKS myristoylated alanine-rich protein kinase C substrate 1.414
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.411
KATNBL1 katanin p80 subunit B-like 1 1.4
GPR161 G protein-coupled receptor 161 1.398
CEP290 centrosomal protein 290kDa 1.395
AMT aminomethyltransferase 1.395
ENOSF1 enolase superfamily member 1 1.391
L1CAM L1 cell adhesion molecule 1.386
GBX2 gastrulation brain homeobox 2 1.379
RAD9B RAD9 homolog B (S. pombe) 1.377
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 1.37
SOX2 SRY (sex determining region Y)-box 2 1.368
MAP3K4 mitogen-activated protein kinase kinase kinase 4 1.367
SLC10A6 solute carrier family 10 (sodium/bile acid cotransporter), member 6 1.364
ESPNL espin-like 1.363
SHROOM2 shroom family member 2 1.357
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 1.353
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 1.351
POMC proopiomelanocortin 1.35
SLC10A5 solute carrier family 10, member 5 1.349
CHRD chordin 1.346
TGIF1 TGFB-induced factor homeobox 1 1.344
BHMT2 betaine--homocysteine S-methyltransferase 2 1.337
B9D1 B9 protein domain 1 1.337
INTU inturned planar cell polarity protein 1.337
COBL cordon-bleu WH2 repeat protein 1.331
CBS cystathionine-beta-synthase 1.325
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 1.322
INS insulin 1.322
GLI2 GLI family zinc finger 2 1.32
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 1.32
WNT5A wingless-type MMTV integration site family, member 5A 1.313
INVS inversin 1.31
TCTN3 tectonic family member 3 1.308
MYO1E myosin IE 1.305
NES nestin 1.304
WNT3A wingless-type MMTV integration site family, member 3A 1.301
PAX1 paired box 1 1.3
TMEM231 transmembrane protein 231 1.296
WDR81 WD repeat domain 81 1.292
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 1.291
MSX1 msh homeobox 1 1.29
TYMS thymidylate synthetase 1.289
COL4A2 collagen, type IV, alpha 2 1.287
EMX2 empty spiracles homeobox 2 1.282
EPHA1 EPH receptor A1 1.28
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.28
SOX3 SRY (sex determining region Y)-box 3 1.279
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 1.27
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) 1.269
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 1.269
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.269
DAAM1 dishevelled associated activator of morphogenesis 1 1.265
FKBP8 FK506 binding protein 8, 38kDa 1.261
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.254
HESX1 HESX homeobox 1 1.25
TBX6 T-box 6 1.246
CSH2 chorionic somatomammotropin hormone 2 1.245
IFT122 intraflagellar transport 122 1.241
WNT1 wingless-type MMTV integration site family, member 1 1.24
ALB albumin 1.24
LMNB1 lamin B1 1.239
IZUMO1R IZUMO1 receptor, JUNO 1.239
ISL1 ISL LIM homeobox 1 1.239
KATNAL2 katanin p60 subunit A-like 2 1.233
DISP2 dispatched homolog 2 (Drosophila) 1.232
IFT88 intraflagellar transport 88 1.227
SHROOM1 shroom family member 1 1.223
MKS1 Meckel syndrome, type 1 1.222
HOXB1 homeobox B1 1.219
GLI1 GLI family zinc finger 1 1.214
FUZ fuzzy planar cell polarity protein 1.213
EOMES eomesodermin 1.211
TBR1 T-box, brain, 1 1.211
SOX10 SRY (sex determining region Y)-box 10 1.21
KIF3A kinesin family member 3A 1.209
IFT172 intraflagellar transport 172 1.208
TMTC3 transmembrane and tetratricopeptide repeat containing 3 1.206
SARDH sarcosine dehydrogenase 1.204
SLC10A4 solute carrier family 10, member 4 1.202
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) 1.2
TCTN1 tectonic family member 1 1.195
LGALS1 lectin, galactoside-binding, soluble, 1 1.194
PHC3 polyhomeotic homolog 3 (Drosophila) 1.193
TCOF1 Treacher Collins-Franceschetti syndrome 1 1.188
FZD1 frizzled class receptor 1 1.184
SMO smoothened, frizzled class receptor 1.182
FGF10 fibroblast growth factor 10 1.181
IRF6 interferon regulatory factor 6 1.179
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1.176
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1.175
APAF1 apoptotic peptidase activating factor 1 1.173
ARHGAP36 Rho GTPase activating protein 36 1.171
KIF20B kinesin family member 20B 1.171
DSE dermatan sulfate epimerase 1.165
OFD1 oral-facial-digital syndrome 1 1.164
KAT2A K(lysine) acetyltransferase 2A 1.164
ANKRD9 ankyrin repeat domain 9 1.164
DMGDH dimethylglycine dehydrogenase 1.161
TUBB2B tubulin, beta 2B class IIb 1.161
FLNA filamin A, alpha 1.16
EMX1 empty spiracles homeobox 1 1.16
FOXD3 forkhead box D3 1.158
CCDC88C coiled-coil domain containing 88C 1.156
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 1.155
LHX5 LIM homeobox 5 1.153
VCL vinculin 1.15
MYOM1 myomesin 1 1.15
MYH14 myosin, heavy chain 14, non-muscle 1.148
CDH17 cadherin 17, LI cadherin (liver-intestine) 1.146
CETN1 centrin, EF-hand protein, 1 1.146
SUFU suppressor of fused homolog (Drosophila) 1.144
TMPRSS7 transmembrane protease, serine 7 1.141
FGF4 fibroblast growth factor 4 1.14
SLC35A4 solute carrier family 35, member A4 1.138
PAX7 paired box 7 1.135
THOC1 THO complex 1 1.134
NPHP1 nephronophthisis 1 (juvenile) 1.133
TMEM107 transmembrane protein 107 1.133
H3-4 H3.4 histone, cluster member 1.132
H3C13 H3 clustered histone 13 1.132
H3-5 H3.5 histone 1.132
FGF20 fibroblast growth factor 20 1.129
BOC BOC cell adhesion associated, oncogene regulated 1.128
FGF17 fibroblast growth factor 17 1.127
MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 1.126
ESX1 ESX homeobox 1 1.126
PTGDS prostaglandin D2 synthase 21kDa (brain) 1.126
GREM2 gremlin 2, DAN family BMP antagonist 1.126
H3-3B H3.3 histone B 1.126
SLC35C2 solute carrier family 35 (GDP-fucose transporter), member C2 1.121
H3C12 H3 clustered histone 12 1.12
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1.12
PLPPR5 phospholipid phosphatase related 5 1.118
TRIM46 tripartite motif containing 46 1.117
SLC35E1 solute carrier family 35, member E1 1.116
FGF22 fibroblast growth factor 22 1.116
FGF16 fibroblast growth factor 16 1.115
ATP13A5 ATPase type 13A5 1.114
FGF6 fibroblast growth factor 6 1.114
LAMB1 laminin, beta 1 1.113
CEP63 centrosomal protein 63kDa 1.111
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 1.108
AHCY adenosylhomocysteinase 1.108
FGF5 fibroblast growth factor 5 1.106
FGF18 fibroblast growth factor 18 1.106
RHOA ras homolog family member A 1.106
RAB23 RAB23, member RAS oncogene family 1.106
SLC35A5 solute carrier family 35, member A5 1.105
FGF3 fibroblast growth factor 3 1.101
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 1.098
SLC35B3 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 1.098
FGF9 fibroblast growth factor 9 1.097
CLDN17 claudin 17 1.096
RNF157 ring finger protein 157 1.095
FOXA2 forkhead box A2 1.095
FJX1 four jointed box 1 (Drosophila) 1.094
WNT4 wingless-type MMTV integration site family, member 4 1.094
AP1S2 adaptor-related protein complex 1, sigma 2 subunit 1.094
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 1.093
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.092
KLHL15 kelch-like family member 15 1.09
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 1.087
POMK protein-O-mannose kinase 1.086
TJP1 tight junction protein 1 1.085
TRIM4 tripartite motif containing 4 1.084
ACTB actin, beta 1.084
IFT57 intraflagellar transport 57 1.083
TRIM67 tripartite motif containing 67 1.081
FGF7 fibroblast growth factor 7 1.079
VASP vasodilator-stimulated phosphoprotein 1.078
SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 1.078
NDEL1 nudE neurodevelopment protein 1-like 1 1.078
DCX doublecortin 1.078
SLC35D2 solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 1.076
TBX1 T-box 1 1.075
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 1.074
AXIN2 axin 2 1.072
PRR7 proline rich 7 (synaptic) 1.072
KAT2B K(lysine) acetyltransferase 2B 1.071
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 1.07
SLC10A3 solute carrier family 10, member 3 1.07
GAS1 growth arrest-specific 1 1.066
POU5F1 POU class 5 homeobox 1 1.064
JUN jun proto-oncogene 1.064
HCCS holocytochrome c synthase 1.064
IFNAR1 interferon (alpha, beta and omega) receptor 1 1.061
COLEC12 collectin sub-family member 12 1.061
ADCY3 adenylate cyclase 3 1.06
SEC24C SEC24 family member C 1.059
FBXO31 F-box protein 31 1.059
NOG noggin 1.057
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 1.056
SLF1 SMC5-SMC6 complex localization factor 1 1.055
EPHA5 EPH receptor A5 1.055
PXDN peroxidasin 1.053
SLC10A7 solute carrier family 10, member 7 1.052
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.051
LMBRD1 LMBR1 domain containing 1 1.051
BDNF brain-derived neurotrophic factor 1.045
PXDNL peroxidasin-like 1.044
PROP1 PROP paired-like homeobox 1 1.044
STIL SCL/TAL1 interrupting locus 1.043
PQBP1 polyglutamine binding protein 1 1.042
GFAP glial fibrillary acidic protein 1.039
HOXA2 homeobox A2 1.039
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 1.036
LHX1 LIM homeobox 1 1.035
TUBG1 tubulin, gamma 1 1.034
U2SURP U2 snRNP-associated SURP domain containing 1.031
LHX2 LIM homeobox 2 1.03
CFL1 cofilin 1 (non-muscle) 1.028
PSG1 pregnancy specific beta-1-glycoprotein 1 1.028
MDM4 MDM4, p53 regulator 1.027
EMG1 EMG1 N1-specific pseudouridine methyltransferase 1.023
FGFR1 fibroblast growth factor receptor 1 1.022
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase 1.022
SLC44A3 solute carrier family 44, member 3 1.022
LHX3 LIM homeobox 3 1.019
BMP2 bone morphogenetic protein 2 1.017
WDR19 WD repeat domain 19 1.017
MCPH1 microcephalin 1 1.015
PAX2 paired box 2 1.012
NKX1-2 NK1 homeobox 2 1.011
CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 1.009
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 1.009
TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 1.006
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 1.006
ZIC5 Zic family member 5 1.005
SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 1.0
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 1.0