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	neural tube defects

Disease ID	640
Disease	neural tube defects
Definition	Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)
Synonym	abnormality of neural tube closure defect neural tube defect, neural tube defects neural tube defects, neural tube developmental defects, neural tube developmental neural tube defects incomplete closure of the vertebral arch neural tube defect neural tube defect (disorder) neural tube defects [disease/finding] neural tube developmental defects ntd ntd - neural tube defect ntds spinal dysraphism tube neural defects
Orphanet	ORPHANET:3388
OMIM	OMIM:182940
DOID	DOID:0080074 DOID:1089
UMLS	C0027794
MeSH	D009436 D016135
SNOMED-CT	SNOMEDCT_US_2016_09_01:253098009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:34) C0020255 \| hydrocephalus \| 9 C0080178 \| spina bifida \| 9 C0016412 \| folate deficiency \| 8 C0011847 \| diabetes \| 4 C0039538 \| teratoma \| 3 C0023798 \| lipoma \| 3 C0085207 \| maternal diabetes \| 3 C0023798 \| lipomas \| 3 C0265343 \| jarcho-levin syndrome \| 2 C0016085 \| filariasis \| 2 C0013884 \| lymphatic filariasis \| 2 C0036323 \| schistosomiasis \| 2 C0005697 \| neurogenic bladder \| 2 C0018916 \| hemangioma \| 2 C0024530 \| malaria \| 2 C0028754 \| obesity \| 2 C0039144 \| syringomyelia \| 1 C0085568 \| buruli ulcer \| 1 C1368910 \| mature teratoma \| 1 C0023290 \| visceral leishmaniasis \| 1 C0008924 \| cleft lip \| 1 C0020550 \| hyperthyroidism \| 1 C0028756 \| morbid obesity \| 1 C0039538 \| teratomas \| 1 C0000786 \| spontaneous abortion \| 1 C0041234 \| chagas disease \| 1 C0000786 \| miscarriage \| 1 C0023281 \| leishmaniasis \| 1 C0342199 \| iodine deficiency \| 1 C0016412 \| folic acid deficiency \| 1 C0010278 \| craniosynostosis \| 1 C0016412 \| deficiency of folic acid \| 1 C0431399 \| joubert syndrome \| 1 C0036439 \| scoliosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:30) 3630 \| INS \| CTD_human 4524 \| MTHFR \| CTD_human;GHR;UNIPROT 3458 \| IFNG \| CTD_human 2348 \| FOLR1 \| CTD_human 1544 \| CYP1A2 \| CTD_human 5652 \| PRSS8 \| CTD_human 4548 \| MTR \| UNIPROT 6862 \| T \| CTD_human;UNIPROT 1437 \| CSF2 \| CTD_human 2737 \| GLI3 \| CTD_human 2350 \| FOLR2 \| CTD_human 57216 \| VANGL2 \| CTD_human 57822 \| GRHL3 \| CTD_human 27443 \| CECR2 \| CTD_human 6347 \| CCL2 \| CTD_human 10 \| NAT2 \| CTD_human 5077 \| PAX3 \| CTD_human 6497 \| SKI \| CTD_human 4488 \| MSX2 \| GHR 7546 \| ZIC2 \| CTD_human 4522 \| MTHFD1 \| CTD_human;UNIPROT 10653 \| SPINT2 \| CTD_human 635 \| BHMT \| CTD_human 60529 \| ALX4 \| GHR 51738 \| GHRL \| CTD_human 81839 \| VANGL1 \| CTD_human;UNIPROT 5697 \| PYY \| CTD_human 6240 \| RRM1 \| CTD_human 85416 \| ZIC5 \| CTD_human 4886 \| NPY1R \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:102) 8854 \| ALDH1A2 \| CIPHER 635 \| BHMT \| CIPHER;CTD_human 652 \| BMP4 \| CIPHER 875 \| CBS \| CIPHER 6347 \| CCL2 \| CIPHER;CTD_human 51293 \| CD320 \| CIPHER 1072 \| CFL1 \| CIPHER 1119 \| CHKA \| CIPHER 1381 \| CRABP1 \| CIPHER 1382 \| CRABP2 \| CIPHER 6372 \| CXCL6 \| CIPHER 1544 \| CYP1A2 \| CIPHER;CTD_human 1592 \| CYP26A1 \| CIPHER 56603 \| CYP26B1 \| CIPHER 340665 \| CYP26C1 \| CIPHER 1719 \| DHFR \| CIPHER 2346 \| FOLH1 \| CIPHER 2348 \| FOLR1 \| CIPHER;CTD_human 2350 \| FOLR2 \| CIPHER;CTD_human 4397 \| MS \| CIPHER 4522 \| MTHFD1 \| CIPHER;CTD_human 4524 \| MTHFR \| CIPHER;CTD_human 4548 \| MTR \| CIPHER 4552 \| MTRR \| CIPHER 4594 \| MUT \| CIPHER 10 \| NAT2 \| CIPHER;CTD_human 9241 \| NOG \| CIPHER 4846 \| NOS3 \| CIPHER 5077 \| PAX3 \| CIPHER;CTD_human 5110 \| PCMT1 \| CIPHER 5130 \| PCYT1A \| CIPHER 5156 \| PDGFRA \| CIPHER 5981 \| RFC1 \| CIPHER 6470 \| SHMT1 \| CIPHER 6472 \| SHMT2 \| CIPHER 6573 \| SLC19A1 \| CIPHER 6947 \| TCN1 \| CIPHER 6948 \| TCN2 \| CIPHER 7012 \| TERC \| CIPHER 7298 \| TYMS \| CIPHER 7351 \| UCP2 \| CIPHER 57216 \| VANGL2 \| CIPHER;CTD_human 7545 \| ZIC1 \| CIPHER 7546 \| ZIC2 \| CIPHER;CTD_human 7547 \| ZIC3 \| CIPHER 191 \| AHCY \| CIPHER 10840 \| ALDH1L1 \| CIPHER 8092 \| ALX1 \| CIPHER 262 \| AMD1 \| CIPHER 275 \| AMT \| CIPHER 471 \| ATIC \| CIPHER 23743 \| BHMT2 \| CIPHER 10498 \| CARM1 \| CIPHER 10370 \| CITED2 \| CIPHER 51805 \| COQ3 \| CIPHER 1387 \| CREBBP \| CIPHER 1491 \| CTH \| CIPHER 8029 \| CUBN \| CIPHER 1786 \| DNMT1 \| CIPHER 1788 \| DNMT3A \| CIPHER 2033 \| EP300 \| CIPHER 2352 \| FOLR3 \| CIPHER 2356 \| FPGS \| CIPHER 10841 \| FTCD \| CIPHER 2593 \| GAMT \| CIPHER 2618 \| GART \| CIPHER 8836 \| GGH \| CIPHER 27232 \| GNMT \| CIPHER 23463 \| ICMT \| CIPHER 4143 \| MAT1A \| CIPHER 4144 \| MAT2A \| CIPHER 27430 \| MAT2B \| CIPHER 4255 \| MGMT \| CIPHER 10797 \| MTHFD2 \| CIPHER 10588 \| MTHFS \| CIPHER 9 \| NAT1 \| CIPHER 4837 \| NNMT \| CIPHER 4842 \| NOS1 \| CIPHER 4843 \| NOS2 \| CIPHER 5444 \| PON1 \| CIPHER 3276 \| PRMT1 \| CIPHER 3275 \| PRMT2 \| CIPHER 8731 \| RNMT \| CIPHER 1757 \| SARDH \| CIPHER 7020 \| TFAP2A \| CIPHER 1787 \| TRDMT1 \| CIPHER 3458 \| IFNG \| CTD_human 5652 \| PRSS8 \| CTD_human 6862 \| T \| CTD_human 2737 \| GLI3 \| CTD_human 57822 \| GRHL3 \| CTD_human 6497 \| SKI \| CTD_human 1437 \| CSF2 \| CTD_human 27443 \| CECR2 \| CTD_human 51738 \| GHRL \| CTD_human 81839 \| VANGL1 \| CTD_human 10653 \| SPINT2 \| CTD_human 6240 \| RRM1 \| CTD_human 85416 \| ZIC5 \| CTD_human 3630 \| INS \| CTD_human 4886 \| NPY1R \| CTD_human 5697 \| PYY \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:193) 2 \| A2M \| 2.56 \| DISEASES 7920 \| ABHD16A \| 1.724 \| DISEASES 86 \| ACTL6A \| 2.98 \| DISEASES 140766 \| ADAMTS14 \| 1.95 \| DISEASES 174 \| AFP \| 6.421 \| DISEASES 55750 \| AGK \| 1.355 \| DISEASES 1645 \| AKR1C1 \| 1.138 \| DISEASES 10840 \| ALDH1L1 \| 1.513 \| DISEASES 257 \| ALX3 \| 3.092 \| DISEASES 60529 \| ALX4 \| 5.219 \| DISEASES 10620 \| ARID3B \| 1.845 \| DISEASES 57412 \| AS3MT \| 1.768 \| DISEASES 286410 \| ATP11C \| 2.01 \| DISEASES 11177 \| BAZ1A \| 2.252 \| DISEASES 64115 \| C10orf54 \| 1.421 \| DISEASES 722 \| C4BPA \| 1.057 \| DISEASES 765 \| CA6 \| 1.502 \| DISEASES 820 \| CAMP \| 1.146 \| DISEASES 10498 \| CARM1 \| 1.082 \| DISEASES 875 \| CBS \| 2.934 \| DISEASES 57545 \| CC2D2A \| 1.56 \| DISEASES 440193 \| CCDC88C \| 1.926 \| DISEASES 23607 \| CD2AP \| 1.274 \| DISEASES 1045 \| CDX2 \| 1.098 \| DISEASES 1046 \| CDX4 \| 2.879 \| DISEASES 80184 \| CEP290 \| 1.599 \| DISEASES 10370 \| CITED2 \| 3.152 \| DISEASES 91522 \| COL23A1 \| 2.79 \| DISEASES 23412 \| COMMD3 \| 1.808 \| DISEASES 594855 \| CPLX3 \| 2.204 \| DISEASES 1443 \| CSH2 \| 1.033 \| DISEASES 1471 \| CST3 \| 1.995 \| DISEASES 8029 \| CUBN \| 2.12 \| DISEASES 51339 \| DACT1 \| 1.447 \| DISEASES 1719 \| DHFR \| 2.822 \| DISEASES 8193 \| DPF1 \| 2.956 \| DISEASES 29940 \| DSE \| 1.579 \| DISEASES 1855 \| DVL1 \| 2.927 \| DISEASES 79659 \| DYNC2H1 \| 1.676 \| DISEASES 83658 \| DYNLRB1 \| 1.163 \| DISEASES 1995 \| ELAVL3 \| 1.31 \| DISEASES 2018 \| EMX2 \| 1.326 \| DISEASES 5169 \| ENPP3 \| 1.224 \| DISEASES 54821 \| ERCC6L \| 1.251 \| DISEASES 2116 \| ETV2 \| 2.125 \| DISEASES 2128 \| EVX1 \| 2.004 \| DISEASES 2132 \| EXT2 \| 2.631 \| DISEASES 346007 \| EYS \| 1.26 \| DISEASES 2245 \| FGD1 \| 1.172 \| DISEASES 2253 \| FGF8 \| 2.281 \| DISEASES 2260 \| FGFR1 \| 1.595 \| DISEASES 8323 \| FZD6 \| 2.265 \| DISEASES 8326 \| FZD9 \| 2.11 \| DISEASES 9247 \| GCM2 \| 1.107 \| DISEASES 2686 \| GGT7 \| 2.234 \| DISEASES 2731 \| GLDC \| 2.109 \| DISEASES 2737 \| GLI3 \| 1.536 \| DISEASES 2262 \| GPC5 \| 1.282 \| DISEASES 10082 \| GPC6 \| 1.598 \| DISEASES 29841 \| GRHL1 \| 1.767 \| DISEASES 2918 \| GRM8 \| 1.181 \| DISEASES 84667 \| HES7 \| 1.736 \| DISEASES 8350 \| HIST1H3A \| 1.537 \| DISEASES 8352 \| HIST1H3C \| 1.324 \| DISEASES 8351 \| HIST1H3D \| 1.537 \| DISEASES 8353 \| HIST1H3E \| 1.329 \| DISEASES 8968 \| HIST1H3F \| 1.537 \| DISEASES 8355 \| HIST1H3G \| 1.537 \| DISEASES 8357 \| HIST1H3H \| 1.537 \| DISEASES 8354 \| HIST1H3I \| 1.537 \| DISEASES 8356 \| HIST1H3J \| 1.327 \| DISEASES 8091 \| HMGA2 \| 1.601 \| DISEASES 3211 \| HOXB1 \| 1.477 \| DISEASES 9742 \| IFT140 \| 1.665 \| DISEASES 51098 \| IFT52 \| 2.521 \| DISEASES 3482 \| IGF2R \| 1.202 \| DISEASES 3486 \| IGFBP3 \| 1.272 \| DISEASES 83943 \| IMMP2L \| 1.649 \| DISEASES 51477 \| ISYNA1 \| 2.046 \| DISEASES 3720 \| JARID2 \| 1.458 \| DISEASES 102723508 \| KANTR \| 1.42 \| DISEASES 3767 \| KCNJ11 \| 1.146 \| DISEASES 51520 \| LARS \| 1.491 \| DISEASES 3927 \| LASP1 \| 1.018 \| DISEASES 54900 \| LAX1 \| 1.204 \| DISEASES 3980 \| LIG3 \| 2.284 \| DISEASES 55788 \| LMBRD1 \| 1.289 \| DISEASES 4004 \| LMO1 \| 1.274 \| DISEASES 55646 \| LYAR \| 2.201 \| DISEASES 4081 \| MAB21L1 \| 2.653 \| DISEASES 4216 \| MAP3K4 \| 1.746 \| DISEASES 65108 \| MARCKSL1 \| 1.891 \| DISEASES 2011 \| MARK2 \| 1.636 \| DISEASES 4140 \| MARK3 \| 2.185 \| DISEASES 4153 \| MBL2 \| 1.085 \| DISEASES 54903 \| MKS1 \| 2.527 \| DISEASES 8510 \| MMP23B \| 1.652 \| DISEASES 4485 \| MST1 \| 1.026 \| DISEASES 4487 \| MSX1 \| 1.399 \| DISEASES 4522 \| MTHFD1 \| 4.344 \| DISEASES 25902 \| MTHFD1L \| 2.958 \| DISEASES 10797 \| MTHFD2 \| 2.706 \| DISEASES 4524 \| MTHFR \| 5.244 \| DISEASES 4548 \| MTR \| 4.271 \| DISEASES 4549 \| MT-RNR1 \| 1.222 \| DISEASES 4674 \| NAP1L2 \| 2.811 \| DISEASES 9 \| NAT1 \| 2.353 \| DISEASES 10787 \| NCKAP1 \| 2.343 \| DISEASES 79625 \| NDNF \| 1.134 \| DISEASES 4739 \| NEDD9 \| 1.554 \| DISEASES 10763 \| NES \| 1.314 \| DISEASES 4763 \| NF1 \| 2.837 \| DISEASES 374354 \| NHLRC2 \| 3.459 \| DISEASES 54413 \| NLGN3 \| 1.128 \| DISEASES 9241 \| NOG \| 2.968 \| DISEASES 4901 \| NRL \| 2.637 \| DISEASES 81788 \| NUAK2 \| 1.908 \| DISEASES 4957 \| ODF2 \| 2.527 \| DISEASES 10215 \| OLIG2 \| 1.237 \| DISEASES 5069 \| PAPPA \| 3.037 \| DISEASES 56288 \| PARD3 \| 2.091 \| DISEASES 5075 \| PAX1 \| 3.749 \| DISEASES 5077 \| PAX3 \| 4.078 \| DISEASES 5080 \| PAX6 \| 1.556 \| DISEASES 5081 \| PAX7 \| 1.282 \| DISEASES 5100 \| PCDH8 \| 2.081 \| DISEASES 5110 \| PCMT1 \| 2.896 \| DISEASES 5154 \| PDGFA \| 1.132 \| DISEASES 56034 \| PDGFC \| 1.775 \| DISEASES 80012 \| PHC3 \| 1.215 \| DISEASES 55274 \| PHF10 \| 2.168 \| DISEASES 51317 \| PHF21A \| 3.435 \| DISEASES 5362 \| PLXNA2 \| 1.343 \| DISEASES 64840 \| PORCN \| 1.509 \| DISEASES 144165 \| PRICKLE1 \| 2.547 \| DISEASES 5567 \| PRKACB \| 1.619 \| DISEASES 5727 \| PTCH1 \| 1.717 \| DISEASES 5730 \| PTGDS \| 2.358 \| DISEASES 5802 \| PTPRS \| 1.483 \| DISEASES 51715 \| RAB23 \| 1.76 \| DISEASES 135250 \| RAET1E \| 1.087 \| DISEASES 146713 \| RBFOX3 \| 1.124 \| DISEASES 26150 \| RIBC2 \| 2.105 \| DISEASES 6045 \| RNF2 \| 1.123 \| DISEASES 80196 \| RNF34 \| 1.256 \| DISEASES 8732 \| RNGTT \| 1.013 \| DISEASES 4920 \| ROR2 \| 1.306 \| DISEASES 23322 \| RPGRIP1L \| 1.858 \| DISEASES 6152 \| RPL24 \| 2.031 \| DISEASES 6164 \| RPL34 \| 3.031 \| DISEASES 6175 \| RPLP0 \| 1.147 \| DISEASES 6229 \| RPS24 \| 2.093 \| DISEASES 1757 \| SARDH \| 2.394 \| DISEASES 23513 \| SCRIB \| 4.075 \| DISEASES 30011 \| SH3KBP1 \| 1.576 \| DISEASES 6472 \| SHMT2 \| 1.037 \| DISEASES 25942 \| SIN3A \| 1.242 \| DISEASES 26503 \| SLC17A5 \| 1.321 \| DISEASES 6513 \| SLC2A1 \| 1.115 \| DISEASES 113235 \| SLC46A1 \| 1.11 \| DISEASES 6545 \| SLC7A4 \| 1.678 \| DISEASES 6594 \| SMARCA1 \| 2.266 \| DISEASES 6657 \| SOX2 \| 2.021 \| DISEASES 11166 \| SOX21 \| 2.056 \| DISEASES 6658 \| SOX3 \| 2.466 \| DISEASES 221833 \| SP8 \| 1.678 \| DISEASES 58477 \| SRPRB \| 3.116 \| DISEASES 6430 \| SRSF5 \| 1.493 \| DISEASES 6491 \| STIL \| 1.131 \| DISEASES 64220 \| STRA6 \| 1.198 \| DISEASES 51684 \| SUFU \| 1.069 \| DISEASES 25777 \| SUN2 \| 1.655 \| DISEASES 8407 \| TAGLN2 \| 2.232 \| DISEASES 50945 \| TBX22 \| 1.127 \| DISEASES 6938 \| TCF12 \| 1.974 \| DISEASES 6949 \| TCOF1 \| 2.248 \| DISEASES 6953 \| TCP10 \| 3.188 \| DISEASES 202500 \| TCTE1 \| 2.523 \| DISEASES 7020 \| TFAP2A \| 1.48 \| DISEASES 51270 \| TFDP3 \| 1.945 \| DISEASES 51259 \| TMEM216 \| 1.912 \| DISEASES 91147 \| TMEM67 \| 2.172 \| DISEASES 1787 \| TRDMT1 \| 1.689 \| DISEASES 7726 \| TRIM26 \| 2.663 \| DISEASES 113457 \| TUBA3D \| 1.349 \| DISEASES 10381 \| TUBB3 \| 1.749 \| DISEASES 7289 \| TULP3 \| 3.074 \| DISEASES 57216 \| VANGL2 \| 4.376 \| DISEASES 7481 \| WNT11 \| 2.459 \| DISEASES 376940 \| ZC3H6 \| 3.9 \| DISEASES 118813 \| ZFYVE27 \| 2.001 \| DISEASES 7546 \| ZIC2 \| 3.541 \| DISEASES 84107 \| ZIC4 \| 3.155 \| DISEASES
Locus	(Waiting for update.)

Disease ID	640
Disease	neural tube defects
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:36) HP:0100507 \| Folate deficiency \| 9 HP:0000238 \| Nonsyndromal hydrocephalus \| 9 HP:0002414 \| Spina bifida \| 9 HP:0002144 \| Occult spinal dysraphism \| 7 HP:0000078 \| Genital abnormalities \| 4 HP:0012032 \| Lipoma \| 3 HP:0009792 \| Teratoma \| 3 HP:0030769 \| Exencephaly \| 3 HP:0009800 \| gestational diabetes \| 3 HP:0002323 \| Anencephaly \| 3 HP:0000011 \| Neurogenic bladder \| 2 HP:0001028 \| Strawberry mark \| 2 HP:0001513 \| Obesity \| 2 HP:0030770 \| Craniorachischisis \| 2 HP:0002825 \| Coccygeal tail \| 2 HP:0012393 \| Allergy \| 1 HP:0005268 \| Spontaneous abortion \| 1 HP:0001945 \| Fever \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0030710 \| Lipomeningocele \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0000998 \| Hypertrichosis \| 1 HP:0006882 \| Severe hydrocephalus \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0100561 \| Spinal cord lesion \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0003396 \| Syringomyelia \| 1 HP:0008443 \| Spinal deformities \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0005202 \| Helicobacter pylori infection \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002650 \| Scoliosis \| 1 HP:0000960 \| Sacral dimple \| 1 HP:0004532 \| Sacral hypertrichosis \| 1

Disease ID	640
Disease	neural tube defects
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0005697 \| neurogenic bladder \| 2 C0036439 \| scoliosis \| 1 C0020255 \| hydrocephalus \| 1 C0002111 \| allergy \| 1 C0039144 \| syringomyelia \| 1 C0277787 \| stigmata \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs3733890	17035141	635	BHMT	umls:C0027794	GAD	[BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.]	0.124734064	2006	BHMT	5	79126136	G	A
rs762551	20641098	1544	CYP1A2	umls:C0027794	GAD	[The association identified between maternal CYP1A2*1F fast oxidation status and NTDs should be examined further in the context of the other substrates of CYP1A2. Maternal caffeine and its metabolites may be associated with increased risk for NTD-affected ]	0.122367032	2010	CYP1A2	15	74749576	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	640
Disease	neural tube defects
Case	(Waiting for update.)

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