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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:neural tube defect
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Accession:DOID:0080074 term browser browse the term
Definition:A physical disorder characterized by incomplete closure of the neural tube. (DO)
Synonyms:exact_synonym: Acrania;   Craniorachischisis;   Diastematomyelia;   Diastematomyelias;   Exencephalies;   Exencephaly;   Iniencephalies;   Iniencephaly;   NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO;   NTD;   Neurenteric Cyst;   Neurenteric Cysts;   Neuroenteric Cyst;   Neuroenteric Cysts;   Spinal Cord Myelodysplasia;   acranias;   craniorachischises;   developmental neural tube defects;   neural tube defects;   spinal cord myelodysplasias
 narrow_synonym: SPINA BIFIDA
 primary_id: MESH:D009436
 alt_id: MIM:182940;   MIM:222500
 xref: GARD:4016


show annotations for term's descendants           Sort by:
neural tube defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO RGD PMID:15886480 RGD:2312793 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Alx3 ALX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20534379 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609 		JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO DNA:transversion:intron:IVS2+2T>G (mouse) RGD PMID:17488627 RGD:11553935 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17035141 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Cbs cystathionine beta synthase no_association ISO DNA:polymorphism:677C > T RGD PMID:12649066 PMID:12649066 RGD:1600627, RGD:1600627 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISO CTD Direct Evidence: marker/mechanism CTD PMID:15640247 NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO RGD PMID:11823447 RGD:734781 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17075842 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20641098 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr16:55,246,716...55,671,441
Ensembl chr16:55,291,584...55,671,439 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15800851 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667 		JBrowse link
G Folr2 folate receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11749123 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724 		JBrowse link
G Fuz fuzzy planar cell polarity protein susceptibility ISO ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to OMIM
ClinVar		 PMID:21840926 PMID:25741868 PMID:28492532 NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:17400914 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Gldc glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16359493 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:17075842 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19446573 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Kat2a lysine acetyltransferase 2A ISO DNA:missense mutations:exons:p.E568A, p.D609A (mouse) RGD PMID:17325035 RGD:9590240 NCBI chr10:85,632,216...85,640,561
Ensembl chr10:85,632,216...85,640,166 		JBrowse link
G Kdm2b lysine demethylase 2B ISO RGD PMID:21220025 RGD:9588256 NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 PMID:29276005 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISS OMIM:182940 | OMIM:301410 | OMIM:601634 MouseDO NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Mlf1 myeloid leukemia factor 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958G>A (rs2236225)(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12384833 PMID:16552426 PMID:16315005 PMID:25524527 RGD:1600189, RGD:11086705 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like susceptibility ISO
ISS		 DNA:deletion/insertion polymorphism:splice junction:rs3832406(human)
OMIM:182940 | OMIM:301410 | OMIM:601634		 MouseDO
RGD		 PMID:19777576 PMID:23267094 RGD:12914147, RGD:12914149 NCBI chr 1:40,443,926...40,632,911
Ensembl chr 1:40,444,008...40,632,905 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:301410 | OMIM:601634
ClinVar Annotator: match by term: Neural tube defect
DNA:polymorphism: :677C>T(human) 		CTD
MouseDO
ClinVar
RGD		 PMID:23056169 PMID:25736335 PMID:25741868 PMID:8826441 RGD:11565102 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20641098 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400914 NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759 		JBrowse link
G Pard3 par-3 family cell polarity regulator ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:27925688 NCBI chr19:55,080,282...55,630,111
Ensembl chr19:55,080,282...55,629,778 		JBrowse link
G Pax3 paired box 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:301410 | OMIM:601634		 CTD
MouseDO		 PMID:3293260 PMID:12739027 PMID:12854658 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO RGD PMID:11742006 RGD:4889811 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Prss8 serine protease 8 ISO CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400914 NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815 		JBrowse link
G Rad9b RAD9 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr12:34,217,868...34,248,380
Ensembl chr12:34,218,024...34,248,372 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716750 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO RGD PMID:18818376 RGD:11556229 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:9284043 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO associated with Hyperglycemia RGD PMID:17235524 RGD:2312360 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24307569 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Tbxt T-box transcription factor T ISO ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to ClinVar
OMIM		 PMID:8733136 PMID:10332959 PMID:10817656 PMID:12116228 PMID:15449172 More... NCBI chr 1:52,298,104...52,309,813
Ensembl chr 1:52,298,099...52,305,864 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects | ClinVar Annotator: match by term: Neural tube defects, susceptibility to		 CTD
OMIM
ClinVar		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:301410 | OMIM:601634
ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to		 CTD
MouseDO
OMIM
ClinVar		 PMID:2373757 PMID:20558380 PMID:25741868 NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378 		JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846 		JBrowse link
G Zic2 Zic family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 PMID:15118671 RGD:1331525 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
G Zic5 Zic family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035 		JBrowse link
anencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO RGD PMID:8673125 RGD:734689 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Anencephaly ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISS OMIM:206500 MouseDO NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451 		JBrowse link
G Efna5 ephrin A5 ISS OMIM:206500 MouseDO NCBI chr 9:102,316,753...102,595,480
Ensembl chr 9:102,320,295...102,597,413 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Lmo4 LIM domain only 4 ISS OMIM:206500 MouseDO NCBI chr 2:233,264,180...233,280,881
Ensembl chr 2:233,264,182...233,280,880 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) RGD PMID:26045171 RGD:11098877 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Trim36 tripartite motif-containing 36 ISO ClinVar Annotator: match by term: Anencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:28087737 NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859 		JBrowse link
Anencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim36 tripartite motif-containing 36 ISO ClinVar Annotator: match by term: Anencephaly 1 OMIM
ClinVar		 PMID:25741868 NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859 		JBrowse link
Anencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Anencephaly 2 OMIM
ClinVar		 PMID:25741868 NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604 		JBrowse link
Arnold-Chiari Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Arnold-Chiari malformation ClinVar NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
caudal regression syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 susceptibility ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		JBrowse link
Encephalocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 2:234,947,910...235,006,173
Ensembl chr 2:234,929,677...235,006,173 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Cephalocele ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO ClinVar Annotator: match by term: MTHFD1-related condition | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to | ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive		 CTD
OMIM
ClinVar		 PMID:1522835 PMID:3347350 PMID:7564788 PMID:7647779 PMID:7726158 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to		 CTD
OMIM
ClinVar		 PMID:9501215 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: MTHFD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:95,070,699...95,095,888
Ensembl chr 6:95,075,331...95,095,755 		JBrowse link
hydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Hydranencephaly ClinVar PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
Knobloch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Knobloch syndrome		 CTD
ClinVar		 PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
Knobloch Syndrome Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar		 PMID:25741868 NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
lateral meningocele syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Lateral meningocele syndrome | ClinVar Annotator: match by term: Lehman syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3484396 PMID:8878478 PMID:9188658 PMID:9388399 PMID:10227618 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Hoxb6 homeo box B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 PMID:34196655 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
Meckel Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 OMIM
ClinVar		 PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP		 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
CTD Direct Evidence: marker/mechanism
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11063677, RGD:11070805 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nde1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydranencephaly and microcephaly		 OMIM
CTD
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
myelomeningocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16237707 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16602021 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO DNA:deletion:intron:rs35565219 (human)
DNA:SNPs, haplotype: :rs710218, rs2229682 (human)		 RGD PMID:21135204 PMID:23427181 RGD:11070819, RGD:12879498 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
parietal foramina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO
ISS		 ClinVar Annotator: match by term: Cranium bifidum occultum
OMIM:168500 | OMIM:609566 | OMIM:609597
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:11137991 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
G Msx2 msh homeobox 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRANIUM BIFIDUM, HEREDITARY | ClinVar Annotator: match by term: Cranium bifidum occultum | ClinVar Annotator: match by term: Enlarged parietal foramina | ClinVar Annotator: match by term: FORAMINA PARIETALIA PERMAGNA
OMIM:168500 | OMIM:609566 | OMIM:609597		 CTD
ClinVar
MouseDO		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Parietal Foramina 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina 1 OMIM
ClinVar		 PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Parietal foramina 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 More... NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr2 FLVCR choline and putative heme transporter 2 ISO
ISS		 ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
OMIM:225790
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 More... NCBI chr 6:105,408,355...105,472,355
Ensembl chr 6:105,408,339...105,472,353 		JBrowse link
spina bifida term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO DNA:polymorphism: :p.D148E (human) RGD PMID:15887293 RGD:2315675 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spina bifida, susceptibility to		 CTD
ClinVar		 PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17352815 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Chka choline kinase alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17184542 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516 		JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO RGD PMID:11953746 RGD:737785 NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISS MouseDO NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO protein:increased expression:brain RGD PMID:26446020 RGD:12801432 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, brain RGD PMID:26446020 RGD:12801432 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO RGD PMID:9611072 RGD:1600190 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
severity		 ISO DNA:transition:cds:g.677C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :677C>T(human) 		CTD
RGD		 PMID:27713094 PMID:10791559 PMID:15022402 PMID:12797455 RGD:6893455, RGD:11565178, RGD:11565104 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO DNA:polymorphism: :2756A>G(human) RGD PMID:12375236 RGD:1302512 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:12590188 PMID:12375236 RGD:5508199, RGD:1302512 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO Spinal dysraphism OMIA PMID:375559 PMID:1641930 PMID:4434313 PMID:4732250 PMID:5023160 More... NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3902948 PMID:6385329 PMID:12854658 PMID:17149730 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16256389 NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO CTD Direct Evidence: marker/mechanism CTD PMID:17184542 NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21031563 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ptch1 patched 1 ISO protein:decreased expression:brain RGD PMID:26446020 RGD:12801432 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rnf2 ring finger protein 2 IEP RGD PMID:20515739 RGD:9491842 NCBI chr13:63,553,964...63,584,047
Ensembl chr13:63,554,862...63,583,099 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit IEP RGD PMID:20515739 RGD:9491842 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Txn2 thioredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165900 NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21404367 NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378 		JBrowse link
Spina Bifida Cystica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A IEP RGD PMID:23677776 RGD:9587760 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Actl6b actin-like 6B IEP RGD PMID:23677776 RGD:9587760 NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8422324 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Runx1 RUNX family transcription factor 1 treatment IDA RGD PMID:26172505 RGD:11251712 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
tethered spinal cord syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Occult spinal dysraphism sequence ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    physical disorder 5170
      neural tube defect 136
        Acalvaria 0
        Arnold-Chiari Malformation + 2
        Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
        Encephalocele + 30
        Folate-Sensitive Neural Tube Defects 6
        Midline Defects, X-Linked 0
        Neural Tube Defects X-Linked 0
        Pentalogy of Cantrell 0
        anencephaly + 21
        myelomeningocele + 5
        parietal foramina + 2
        spina bifida + 41
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        Congenital Abnormalities 7762
          Nervous System Malformations 2450
            neural tube defect 136
              Acalvaria 0
              Arnold-Chiari Malformation + 2
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Encephalocele + 30
              Folate-Sensitive Neural Tube Defects 6
              Midline Defects, X-Linked 0
              Neural Tube Defects X-Linked 0
              Pentalogy of Cantrell 0
              anencephaly + 21
              myelomeningocele + 5
              parietal foramina + 2
              spina bifida + 41
paths to the root