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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;   FUZ-RELATED CONDITION;   Iniencephalies;   Iniencephaly;   NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO;   NTD;   Neurenteric Cyst;   Neurenteric Cysts;   Neuroenteric Cyst;   Neuroenteric Cysts;   Spinal Cord Myelodysplasia;   VANGL2-RELATED CONDITION;   acranias;   craniorachischises;   developmental neural tube defects;   neural tube defects;   spinal cord myelodysplasias
 narrow_synonym: SPINA BIFIDA
 broad_synonym: TBXT-RELATED CONDITION
 primary_id: MESH:D009436
 alt_id: MIM:182940;   MIM:222500
 xref: GARD:4016

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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 chrNW_004624790:4,822,467...4,854,852
Ensembl chrNW_004624790:4,832,494...4,854,845 		JBrowse link
G Alx3 ALX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20534379 NCBI chrNW_004624772:5,826,823...5,836,853
Ensembl chrNW_004624772:5,826,600...5,836,853 		JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chrNW_004624767:1,967,002...2,160,102
Ensembl chrNW_004624767:1,966,898...2,160,465 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chrNW_004624750:8,835,521...8,940,957
Ensembl chrNW_004624750:8,837,037...8,938,009 		JBrowse link
G Arl13b ARF like GTPase 13B ISO DNA:transversion:intron:IVS2+2T>G (mouse) RGD PMID:17488627 RGD:11553935 NCBI chrNW_004624789:6,710,858...6,783,097
Ensembl chrNW_004624789:6,710,681...6,783,667 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chrNW_004624870:3,363,087...3,487,197
Ensembl chrNW_004624870:3,400,638...3,486,777 		JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17035141 NCBI chrNW_004624869:3,618,895...3,639,621
Ensembl chrNW_004624869:3,617,948...3,642,860 		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 chrNW_004624772:11,458,994...11,521,809
Ensembl chrNW_004624772:11,456,554...11,521,939 		JBrowse link
G Cbs cystathionine beta-synthase ISO DNA:polymorphism:677C > T RGD PMID:12649066 RGD:1600627 NCBI chrNW_004624745:27,676,430...27,687,573
Ensembl chrNW_004624745:27,673,748...27,688,462 		JBrowse link
G Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO RGD PMID:11823447 RGD:734781 NCBI chrNW_004624753:14,630,842...14,633,245
Ensembl chrNW_004624753:14,630,827...14,632,536 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17075842 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chrNW_004624839:3,495,580...3,899,009
Ensembl chrNW_004624839:3,509,441...3,899,162 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15800851 NCBI chrNW_004624817:4,830,164...4,850,565
Ensembl chrNW_004624817:4,820,163...4,851,339 		JBrowse link
G Fuz fuzzy planar cell polarity protein susceptibility ISO ClinVar Annotator: match by term: FUZ-related condition | 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 chrNW_004624832:4,509,118...4,514,180
Ensembl chrNW_004624832:4,509,505...4,514,183 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:17400914 NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473 		JBrowse link
G Gldc glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chrNW_004624736:11,022,691...11,133,950
Ensembl chrNW_004624736:11,022,691...11,134,377 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16359493 NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chrNW_004624764:8,753,343...8,783,891
Ensembl chrNW_004624764:8,753,567...8,783,162 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:17075842 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:19446573 NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chrNW_004624805:8,748,848...8,800,259
Ensembl chrNW_004624805:8,765,949...8,802,149 		JBrowse link
G Kat2a lysine acetyltransferase 2A ISO DNA:missense mutations:exons:p.E568A, p.D609A (mouse) RGD PMID:17325035 RGD:9590240 NCBI chrNW_004624795:1,782,367...1,787,408
Ensembl chrNW_004624795:1,782,366...1,788,951 		JBrowse link
G Kdm2b lysine demethylase 2B ISO RGD PMID:21220025 RGD:9588256 NCBI chrNW_004624747:21,922,249...22,047,246 JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 PMID:29276005 NCBI chrNW_004624767:18,654,682...18,716,087
Ensembl chrNW_004624767:18,655,193...18,716,252 		JBrowse link
G LOC101697399 sulfotransferase 1A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24307569 NCBI chrNW_004624782:13,079,596...13,094,149 JBrowse link
G LOC101712555 NADPH--cytochrome P450 reductase ISO RGD PMID:11742006 RGD:4889811 NCBI chrNW_004624740:14,739,458...14,790,736
Ensembl chrNW_004624740:14,733,427...14,791,065 		JBrowse link
G LOC101714324 cat eye syndrome critical region protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15640247 NCBI chrNW_004624735:9,749,105...9,896,328
Ensembl chrNW_004624735:9,747,550...9,896,370 		JBrowse link
G LOC101721569 folate receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:11749123
G Lrp6 LDL receptor related protein 6 ISO OMIM:182940 | OMIM:301410 | OMIM:601634 MouseDO NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893 		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 		RGD
CTD		 PMID:12384833 PMID:16315005 PMID:16552426 PMID:25524527 RGD:11086705 RGD:1600189 NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026 		JBrowse link
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like susceptibility ISO OMIM:182940 | OMIM:301410 | OMIM:601634
DNA:deletion/insertion polymorphism:splice junction:rs3832406(human) 		RGD
MouseDO		 PMID:19777576 PMID:23267094 RGD:12914147 RGD:12914149 NCBI chrNW_004624785:7,129,969...7,328,331
Ensembl chrNW_004624785:7,129,859...7,328,153 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human)
ClinVar Annotator: match by term: Neural tube defect 		RGD
ClinVar		 PMID:8826441 PMID:25736335 PMID:25741868 RGD:11565102 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400914 NCBI chrNW_004624758:13,542,467...13,545,106
Ensembl chrNW_004624758:13,536,493...13,545,599 		JBrowse link
G Pard3 par-3 family cell polarity regulator ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:27925688 NCBI chrNW_004624805:7,204,915...7,810,050
Ensembl chrNW_004624805:7,205,092...7,808,542 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:182940 | OMIM:301410 | OMIM:601634 		CTD
MouseDO		 PMID:3293260 PMID:12739027 PMID:12854658 NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chrNW_004624870:3,552,608...3,575,461
Ensembl chrNW_004624870:3,552,745...3,574,880 		JBrowse link
G Prss8 serine protease 8 ISO CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chrNW_004624782:14,169,204...14,177,137
Ensembl chrNW_004624782:14,169,866...14,173,676 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400914 NCBI chrNW_004624795:887,963...903,315
Ensembl chrNW_004624795:902,260...903,409 		JBrowse link
G Rad9b RAD9 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chrNW_004624747:21,360,253...21,399,223
Ensembl chrNW_004624747:21,360,240...21,399,075 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716750 NCBI chrNW_004624817:5,523,648...5,568,997
Ensembl chrNW_004624817:5,523,665...5,568,994 		JBrowse link
G Sall4 spalt like transcription factor 4 ISO RGD PMID:18818376 RGD:11556229 NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chrNW_004624735:12,997,358...13,018,765
Ensembl chrNW_004624735:12,997,408...13,018,533 		JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:9284043 NCBI chrNW_004624818:7,674,184...7,736,249
Ensembl chrNW_004624818:7,673,203...7,736,255 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO associated with Hyperglycemia RGD PMID:17235524 RGD:2312360 NCBI chrNW_004624730:49,026,603...49,056,363
Ensembl chrNW_004624730:49,025,766...49,056,284 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chrNW_004624794:11,738,137...11,765,579
Ensembl chrNW_004624794:11,738,487...11,769,117 		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 Annotator: match by term: TBXT-related condition ClinVar
OMIM		 PMID:8733136 PMID:10332959 PMID:10817656 PMID:12116228 PMID:15449172 More... NCBI chrNW_004624785:13,058,520...13,066,607
Ensembl chrNW_004624785:13,058,444...13,066,719 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 susceptibility ISO 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 ClinVar
OMIM		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chrNW_004624772:11,401,277...11,453,870
Ensembl chrNW_004624772:11,401,660...11,448,569 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to | ClinVar Annotator: match by term: VANGL2-related condition OMIM
ClinVar		 PMID:20558380 PMID:25741868 PMID:28492532 NCBI chrNW_004624794:841,302...867,717
Ensembl chrNW_004624794:841,247...867,708 		JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chrNW_004624870:3,487,814...3,518,206
Ensembl chrNW_004624870:3,486,375...3,518,193 		JBrowse link
G Zic2 Zic family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chrNW_004624793:11,162,835...11,167,497
Ensembl chrNW_004624793:11,163,916...11,167,457 		JBrowse link
G Zic5 Zic family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chrNW_004624793:11,171,431...11,186,415
Ensembl chrNW_004624793:11,176,946...11,189,003 		JBrowse link
anencephaly 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: Anencephaly ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		JBrowse link
G Efna5 ephrin A5 ISO OMIM:206500 MouseDO NCBI chrNW_004624743:25,336,851...25,611,698
Ensembl chrNW_004624743:25,341,132...25,611,564 		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:28492532 PMID:31444731 PMID:31680349 More... NCBI chrNW_004624812:37,055...49,908
Ensembl chrNW_004624812:36,963...51,411 		JBrowse link
G Lmo4 LIM domain only 4 ISO OMIM:206500 MouseDO NCBI chrNW_004624742:10,207,901...10,224,807
Ensembl chrNW_004624742:10,207,899...10,225,209 		JBrowse link
G LOC101714324 cat eye syndrome critical region protein 2 ISO OMIM:206500 MouseDO NCBI chrNW_004624735:9,749,105...9,896,328
Ensembl chrNW_004624735:9,747,550...9,896,370 		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 chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		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:28492532 PMID:31444731 PMID:31680349 More... NCBI chrNW_004624812:41,234...52,962
Ensembl chrNW_004624812:41,652...52,973 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		JBrowse link
G Trim36 tripartite motif containing 36 ISO ClinVar Annotator: match by term: Anencephaly ClinVar PMID:28087737 NCBI chrNW_004624733:6,826,652...6,864,768 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 | ClinVar Annotator: match by term: TRIM36-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624733:6,826,652...6,864,768 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 chrNW_004624807:5,850,857...5,869,284
Ensembl chrNW_004624807:5,850,600...5,869,547 		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 chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Arnold-Chiari malformation ClinVar NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		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 chrNW_004624772:11,458,994...11,521,809
Ensembl chrNW_004624772:11,456,554...11,521,939 		JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chrNW_004624776:10,551,503...10,556,987
Ensembl chrNW_004624776:10,551,503...10,556,845 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004624811:3,453,218...3,862,970 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 chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		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 ClinVar
OMIM		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chrNW_004624772:11,401,277...11,453,870
Ensembl chrNW_004624772:11,401,660...11,448,569 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chrNW_004624784:9,545,529...9,726,960
Ensembl chrNW_004624784:9,546,509...9,726,960 		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 chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chrNW_004624742:12,369,903...12,463,184
Ensembl chrNW_004624742:12,369,834...12,463,215 		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 chrNW_004624751:27,543,768...27,760,536
Ensembl chrNW_004624751:27,543,702...27,759,271 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		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 chrNW_004624892:2,703,898...2,754,130
Ensembl chrNW_004624892:2,703,936...2,756,565 		JBrowse link
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar PMID:25741868 NCBI chrNW_004624818:1,199,994...1,218,489 JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 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 ClinVar
OMIM		 PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 More... NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar
OMIM		 PMID:1522835 PMID:3347350 PMID:7564788 PMID:7647779 PMID:7726158 More... NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to ClinVar
OMIM		 PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 More... NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to ClinVar
OMIM		 PMID:9501215 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 More... NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: MTHFD1-related condition | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624734:36,510,259...36,565,096
Ensembl chrNW_004624734:36,510,306...36,532,392 		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 chrNW_004624786:4,429,492...4,440,865
Ensembl chrNW_004624786:4,429,087...4,442,037 		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 chrNW_004624737:4,718,904...4,741,317
Ensembl chrNW_004624737:4,718,883...4,740,489 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679 		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 chrNW_004624746:9,336,284...9,667,389
Ensembl chrNW_004624746:9,530,093...9,669,129 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chrNW_004624745:30,754,654...30,792,352
Ensembl chrNW_004624745:30,754,820...30,791,426 		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 chrNW_004624730:61,809,876...61,879,755
Ensembl chrNW_004624730:61,817,300...61,879,755 		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 chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944 		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:12766032 PMID:14695535 PMID:16199547 More... NCBI chrNW_004624745:30,754,654...30,792,352
Ensembl chrNW_004624745:30,754,820...30,791,426 		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:17546652 PMID:19160445 PMID:19390655 PMID:20799329 More... NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944 		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 PMID:33693784 PMID:37808560 PMID:38712026 PMID:38894571 NCBI chrNW_004624730:61,809,876...61,879,755
Ensembl chrNW_004624730:61,817,300...61,879,755 		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 OMIM
ClinVar		 PMID:3484396 PMID:8878478 PMID:9188658 PMID:9388399 PMID:10227618 More... NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 More... NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chrNW_004624907:177,031...183,776
Ensembl chrNW_004624907:176,827...184,574 		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 chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		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: 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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:24360803 PMID:25558065 PMID:25741868 NCBI chrNW_004624744:24,145,480...24,286,931
Ensembl chrNW_004624744:24,146,096...24,287,002 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica 		ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480 		JBrowse link
G Hoxb6 homeobox B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chrNW_004624795:5,093,911...5,102,401
Ensembl chrNW_004624795:5,093,858...5,102,868 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 		OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		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 chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160 		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 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 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		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 chrNW_004624747:21,259,515...21,300,180
Ensembl chrNW_004624747:21,265,197...21,300,149 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359 		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 chrNW_004624746:11,411,050...11,427,945
Ensembl chrNW_004624746:11,411,107...11,427,943 		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 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-GRUBER SYNDROME, TYPE 1 		ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071 		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: KIF14-related condition | ClinVar Annotator: match by term: Meckel syndrome 12 OMIM
ClinVar		 PMID:16199547 PMID:23308235 PMID:24128419 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624807:10,093,518...10,144,484
Ensembl chrNW_004624807:10,092,934...10,143,399 		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 chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359 		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 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... NCBI chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079 		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 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071 		JBrowse link
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 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		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 chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757 		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 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		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 OMIM
ClinVar		 PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		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 chrNW_004624747:23,439,647...23,470,470 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 ClinVar Annotator: match by term: HYDRANENCEPHALY AND MICROCEPHALY | ClinVar Annotator: match by term: Hydranencephaly and microcephaly OMIM
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		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 chrNW_004624781:13,756,469...13,845,253
Ensembl chrNW_004624781:13,756,390...13,845,479 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16602021 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO DNA:SNPs, haplotype: :rs710218, rs2229682 (human)
DNA:deletion:intron:rs35565219 (human) 		RGD PMID:21135204 PMID:23427181 RGD:11070819 RGD:12879498 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		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 ClinVar Annotator: match by term: Cranium bifidum occultum ClinVar NCBI chrNW_004624767:3,770,755...3,808,511
Ensembl chrNW_004624767:3,770,762...3,805,323 		JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: CATLIN MARKS | 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 ClinVar PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568 		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 chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568 		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 ClinVar
OMIM		 PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 More... NCBI chrNW_004624767:3,770,755...3,808,511
Ensembl chrNW_004624767:3,770,762...3,805,323 		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 ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568 		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 ClinVar Annotator: match by term: FLVCR2-related condition | 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
ClinVar		 PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 More... NCBI chrNW_004624734:26,033,790...26,085,027
Ensembl chrNW_004624734:26,033,790...26,085,014 		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 chrNW_004624825:4,711,921...4,714,926
Ensembl chrNW_004624825:4,708,093...4,714,921 		JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17352815 NCBI chrNW_004624767:20,574,884...20,578,413
Ensembl chrNW_004624767:20,574,966...20,579,796 		JBrowse link
G Chka choline kinase alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17184542 NCBI chrNW_004624767:18,744,647...18,807,352
Ensembl chrNW_004624767:18,744,547...18,807,352 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISO MouseDO NCBI chrNW_004624908:1,713,590...1,720,709 JBrowse link
G Gli1 GLI family zinc finger 1 ISO protein:increased expression:brain RGD PMID:26446020 RGD:12801432 NCBI chrNW_004624802:10,483,279...10,494,539
Ensembl chrNW_004624802:10,483,219...10,498,609 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, brain RGD PMID:26446020 RGD:12801432 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
G LOC101699044 cytochrome P450 26A1 ISO RGD PMID:11953746 RGD:737785 NCBI chrNW_004624737:4,324,964...4,329,488
Ensembl chrNW_004624737:4,325,755...4,329,758 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO RGD PMID:9611072 RGD:1600190 NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
severity
susceptibility 		ISO DNA:polymorphism: :677C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:transition:cds:g.677C>T (human) 		RGD
CTD		 PMID:10791559 PMID:12797455 PMID:15022402 PMID:27713094 RGD:11565104 RGD:11565178 RGD:6893455 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO DNA:polymorphism: :2756A>G(human) RGD PMID:12375236 RGD:1302512 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:12375236 PMID:12590188 RGD:1302512 RGD:5508199 NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657 		JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO Spinal dysraphism OMIA PMID:375559 PMID:1641930 PMID:4434313 PMID:4732250 PMID:5023160 More... NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3902948 PMID:6385329 PMID:12854658 PMID:17149730 NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944 		JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16256389 NCBI chrNW_004624785:8,267,328...8,326,550
Ensembl chrNW_004624785:8,263,113...8,326,549 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO CTD Direct Evidence: marker/mechanism CTD PMID:17184542 NCBI chrNW_004624730:61,417,030...61,466,028
Ensembl chrNW_004624730:61,418,013...61,466,016 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21031563 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Ptch1 patched 1 ISO protein:decreased expression:brain RGD PMID:26446020 RGD:12801432 NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Rnf2 ring finger protein 2 ISO RGD PMID:20515739 RGD:9491842 NCBI chrNW_004624814:8,470,818...8,516,252 JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO RGD PMID:20515739 RGD:9491842 NCBI chrNW_004624875:4,425,486...4,477,338
Ensembl chrNW_004624875:4,425,418...4,477,909 		JBrowse link
G Txn2 thioredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165900 NCBI chrNW_004624752:11,248,640...11,260,118
Ensembl chrNW_004624752:11,249,656...11,260,118 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21404367 NCBI chrNW_004624794:841,302...867,717
Ensembl chrNW_004624794:841,247...867,708 		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 ISO RGD PMID:23677776 RGD:9587760 NCBI chrNW_004624730:57,305,105...57,337,653
Ensembl chrNW_004624730:57,305,053...57,337,797 		JBrowse link
G Actl6b actin like 6B ISO RGD PMID:23677776 RGD:9587760 NCBI chrNW_004624740:16,438,910...16,451,220
Ensembl chrNW_004624740:16,438,746...16,451,212 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chrNW_004624768:908,907...1,024,953
Ensembl chrNW_004624768:909,099...1,024,902 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8422324 NCBI chrNW_004624795:395,298...400,781
Ensembl chrNW_004624795:394,436...401,231 		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 chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    physical disorder 4825
      neural tube defect 127
        Acalvaria 0
        Arnold-Chiari Malformation + 2
        Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
        Encephalocele + 28
        Folate-Sensitive Neural Tube Defects 6
        Midline Defects, X-Linked 0
        Neural Tube Defects X-Linked 0
        Pentalogy of Cantrell 0
        anencephaly + 20
        myelomeningocele + 5
        parietal foramina + 2
        spina bifida + 39
Path 2
Term Annotations click to browse term
  disease 14234
    Developmental Disease 12524
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        Congenital Abnormalities 7175
          Nervous System Malformations 2318
            neural tube defect 127
              Acalvaria 0
              Arnold-Chiari Malformation + 2
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Encephalocele + 28
              Folate-Sensitive Neural Tube Defects 6
              Midline Defects, X-Linked 0
              Neural Tube Defects X-Linked 0
              Pentalogy of Cantrell 0
              anencephaly + 20
              myelomeningocele + 5
              parietal foramina + 2
              spina bifida + 39
paths to the root