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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: OMIM:182940;   OMIM: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 chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ALX3 ALX homeobox 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20534379 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G AMBRA1 autophagy and beclin 1 regulator 1 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr11:46,396,412...46,594,023
Ensembl chr11:46,396,414...46,594,125 		JBrowse link
G APAF1 apoptotic peptidase activating factor 1 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr12:98,645,290...98,735,433
Ensembl chr12:98,645,290...98,735,433 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO DNA:transversion:intron:IVS2+2T>G (mouse) RGD PMID:17488627 RGD:11553935 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARSG arylsulfatase G IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17035141 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288 		JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,884 		JBrowse link
G CBS cystathionine beta-synthase IAGP DNA:polymorphism:677C > T RGD PMID:12649066 RGD:1600627 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CECR2 CECR2 histone acetyl-lysine reader EXP CTD Direct Evidence: marker/mechanism CTD PMID:15640247 NCBI chr22:17,359,949...17,558,151
Ensembl chr22:17,359,949...17,558,151 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO RGD PMID:11823447 RGD:734781 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:17075842 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20641098 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607 		JBrowse link
G DLC1 DLC1 Rho GTPase activating protein IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr 8:13,083,361...13,604,620
Ensembl chr 8:13,083,361...13,604,610 		JBrowse link
G FOLR1 folate receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15800851 NCBI chr11:72,189,709...72,196,323
Ensembl chr11:72,189,558...72,196,323 		JBrowse link
G FOLR2 folate receptor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:11749123 NCBI chr11:72,216,794...72,221,950
Ensembl chr11:72,216,601...72,221,950 		JBrowse link
G FUZ fuzzy planar cell polarity protein susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Neural tube defects, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21840926 PMID:25741868 PMID:28492532 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide EXP CTD Direct Evidence: therapeutic CTD PMID:17400914 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GLDC glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729 		JBrowse link
G GLI3 GLI family zinc finger 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16359493 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:17075842 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:19446573 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G ITGB1 integrin subunit beta 1 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792 		JBrowse link
G KAT2A lysine acetyltransferase 2A ISO DNA:missense mutations:exons:p.E568A, p.D609A (mouse) RGD PMID:17325035 RGD:9590240 NCBI chr17:42,113,111...42,121,367
Ensembl chr17:42,113,111...42,121,367 		JBrowse link
G KDM2B lysine demethylase 2B ISO RGD PMID:21220025 RGD:9588256 NCBI chr12:121,408,461...121,582,279
Ensembl chr12:121,429,096...121,581,023 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 PMID:29276005 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G LOC121725046 Sharpr-MPRA regulatory region 4355 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr 1:115,651,048...115,651,342 JBrowse link
G LOC124403936 Sharpr-MPRA regulatory region 15357 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:27925688 NCBI chr10:34,637,521...34,637,815 JBrowse link
G LOC130003663 ATAC-STARR-seq lymphoblastoid active region 3255 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:27925688 NCBI chr10:34,649,254...34,649,353 JBrowse link
G LOC130003664 ATAC-STARR-seq lymphoblastoid silent region 2292 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:27925688 NCBI chr10:34,650,297...34,650,496 JBrowse link
G LRP6 LDL receptor related protein 6 ISS OMIM:182940 | OMIM:301410 | OMIM:601634 MouseDO NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G MLF1 myeloid leukemia factor 1 TAS DNA:translocation:fusion_protein RGD PMID:15659732 RGD:1600902 NCBI chr 3:158,571,194...158,606,456
Ensembl chr 3:158,571,163...158,607,252 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP
EXP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:1958G>A (rs2236225)(human)		 CTD
RGD		 PMID:12384833 PMID:16552426 PMID:16315005 PMID:25524527 RGD:1600189, RGD:11086705 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like susceptibility IAGP
ISS
ISO		 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 6:150,865,702...151,101,887
Ensembl chr 6:150,865,679...151,101,887 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP
ISS
EXP		 DNA:polymorphism: :677C>T(human)
OMIM:301410 | OMIM:601634
ClinVar Annotator: match by term: Neural tube defect
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:23056169 PMID:25736335 PMID:25741868 PMID:8826441 RGD:11565102 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NAT2 N-acetyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20641098 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G NPM1 nucleophosmin 1 TAS DNA:translocation:fusion_protein RGD PMID:15659732 RGD:1600902 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NPY1R neuropeptide Y receptor Y1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17400914 NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832 		JBrowse link
G PARD3 par-3 family cell polarity regulator IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:27925688 NCBI chr10:34,109,561...34,815,296
Ensembl chr10:34,109,560...34,815,325 		JBrowse link
G PAX3 paired box 3 EXP
ISS		 CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:301410 | OMIM:601634		 CTD
MouseDO		 PMID:3293260 PMID:12739027 PMID:12854658 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G POR cytochrome p450 oxidoreductase ISO RGD PMID:11742006 RGD:4889811 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRSS8 serine protease 8 EXP CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chr16:31,131,433...31,135,727
Ensembl chr16:31,131,433...31,135,727 		JBrowse link
G PYY peptide YY EXP CTD Direct Evidence: marker/mechanism CTD PMID:17400914 NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469 		JBrowse link
G RAD9B RAD9 checkpoint clamp component B IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr12:110,502,331...110,533,556
Ensembl chr12:110,501,655...110,533,556 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10716750 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO RGD PMID:18818376 RGD:11556229 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SCRIB scribble planar cell polarity protein IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 NCBI chr 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773 		JBrowse link
G SKI SKI proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:9284043 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO associated with Hyperglycemia RGD PMID:17235524 RGD:2312360 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24307569 NCBI chr16:28,605,258...28,623,375
Ensembl chr16:28,605,196...28,610,044 		JBrowse link
G TBXT T-box transcription factor T IAGP
EXP		 ClinVar Annotator: match by term: Neural tube defects, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8733136 PMID:10332959 PMID:10817656 PMID:12116228 PMID:15449172 More... NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neural tube defect
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 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neural tube defect
ClinVar Annotator: match by term: Neural tube defects, susceptibility to
OMIM:301410 | OMIM:601634		 CTD
ClinVar
MouseDO
OMIM		 PMID:2373757 PMID:20558380 PMID:25741868 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar NCBI chr17:68,421,281...68,457,496
Ensembl chr17:68,420,948...68,457,513 		JBrowse link
G ZIC2 Zic family member 2 IEA
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:15136147 PMID:15118671 RGD:1331525 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZIC5 Zic family member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chr13:99,962,964...99,971,909
Ensembl chr13:99,962,964...99,971,767 		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 chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Anencephaly ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CECR2 CECR2 histone acetyl-lysine reader ISS OMIM:206500 MouseDO NCBI chr22:17,359,949...17,558,151
Ensembl chr22:17,359,949...17,558,151 		JBrowse link
G EFNA5 ephrin A5 ISS OMIM:206500 MouseDO NCBI chr 5:107,376,894...107,670,937
Ensembl chr 5:107,376,894...107,670,937 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G LMO4 LIM domain only 4 ISS OMIM:206500 MouseDO NCBI chr 1:87,328,880...87,348,923
Ensembl chr 1:87,328,880...87,348,923 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) RGD PMID:26045171 RGD:11098877 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G TRIM36 tripartite motif containing 36 IAGP
EXP		 ClinVar Annotator: match by term: Anencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:28087737 NCBI chr 5:115,124,772...115,180,294
Ensembl chr 5:115,124,762...115,180,546 		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 IAGP ClinVar Annotator: match by term: Anencephaly 1 OMIM
ClinVar		 PMID:25741868 NCBI chr 5:115,124,772...115,180,294
Ensembl chr 5:115,124,762...115,180,546 		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 IAGP ClinVar Annotator: match by term: Anencephaly 2 OMIM
ClinVar		 PMID:25741868 NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Arnold-Chiari malformation ClinVar NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		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 IAGP ClinVar Annotator: match by term: Caudal regression sequence
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 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,884 		JBrowse link
G CDX2 caudal type homeobox 2 IAGP ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr13:27,960,918...27,969,315
Ensembl chr13:27,960,918...27,969,315 		JBrowse link
G LOC121725046 Sharpr-MPRA regulatory region 4355 IAGP ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar NCBI chr 1:115,651,048...115,651,342 JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Caudal regression sequence
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 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		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 IAGP ClinVar Annotator: match by term: Encephalocele ClinVar PMID:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Occipital encephalocele
ClinVar Annotator: match by term: Encephalocele		 ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G DNAI3 dynein axonemal intermediate chain 3 IAGP ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 1:85,062,327...85,133,138
Ensembl chr 1:84,999,147...85,133,138 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Cephalocele ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Encephalocele ClinVar PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf167 chromosome 1 open reading frame 167 IAGP ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar NCBI chr 1:11,762,193...11,789,585
Ensembl chr 1:11,761,787...11,789,585 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP
EXP		 ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
ClinVar Annotator: match by term: MTHFD1-related condition | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | 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 chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Neural tube defects, folate-sensitive
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1522835 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 More... NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP
EXP		 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 chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9501215 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 More... NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G ZBTB25 zinc finger and BTB domain containing 25 IAGP ClinVar Annotator: match by term: MTHFD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr14:64,449,106...64,505,213
Ensembl chr14:64,449,106...64,505,213 		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 IAGP ClinVar Annotator: match by term: Hydranencephaly ClinVar PMID:25558065 PMID:25741868 PMID:25741916 PMID:28556411 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		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 IAGP ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		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 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr16:77,282,128...77,435,034
Ensembl chr16:77,247,813...77,435,034 		JBrowse link
G BNAT1 breast cancer associated ESR1 regulating natural antisense transcript 1 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:10942434 PMID:12415512 PMID:16199547 PMID:25456301 PMID:25741868 More... NCBI chr21:45,403,806...45,406,362 JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP
EXP		 ClinVar Annotator: match by term: Knobloch syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BNAT1 breast cancer associated ESR1 regulating natural antisense transcript 1 IAGP ClinVar Annotator: match by term: COL18A1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr21:45,403,806...45,406,362 JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: COL18A1-related condition
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 chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Knobloch syndrome 1
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 chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		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 IAGP ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
lateral meningocele syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6795 microRNA 6795 IAGP ClinVar Annotator: match by term: Lateral meningocele syndrome ClinVar PMID:25741868 NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350 		JBrowse link
G NOTCH3 notch receptor 3 IAGP
EXP		 ClinVar Annotator: match by term: Lateral meningocele syndrome
ClinVar Annotator: match by term: Lehman syndrome
ClinVar Annotator: match by term: Lateral meningocele syndrome | ClinVar Annotator: match by term: Lehman syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3484396 PMID:8878478 PMID:9188658 PMID:9388399 PMID:11102981 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		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 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP 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 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 chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica
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:16682970 PMID:16682973 PMID:16909394 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 PMID:29974258 NCBI chr12:88,062,639...88,062,839 JBrowse link
G LOC129937587 ATAC-STARR-seq lymphoblastoid silent region 14744 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868
G LOC130061271 ATAC-STARR-seq lymphoblastoid active region 12461 IAGP 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:16415886 PMID:19466712 PMID:24886560 PMID:25741868 PMID:26490104 More... NCBI chr17:58,219,083...58,219,362 JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP
EXP
ISO		 DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
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
CTD Direct Evidence: marker/mechanism
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)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11063991, RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome		 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: Dysencephalia splachnocystica
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 chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G TCTN1 tectonic family member 1 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: Dysencephalia splachnocystica		 ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 IAGP ClinVar Annotator: match by term: Meckel syndrome 12 OMIM
ClinVar		 PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC105371520 uncharacterized LOC105371520 IAGP ClinVar Annotator: match by term: Meckel syndrome 13 ClinVar PMID:25741868 PMID:25741914 PMID:26123494 PMID:26595381 NCBI chr17:8,174,610...8,182,812 JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Meckel syndrome 13 ClinVar
OMIM		 PMID:25741868 PMID:25741914 PMID:26123494 PMID:26595381 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		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 IAGP
EXP		 DNA:missense,frameshift,nonsense mutations:cds,splice junction:
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		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 IAGP
EXP
ISO		 DNA:missense mutations, splice-site mutation:exon:multiple
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)		 ClinVar
CTD
OMIM
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:11063991, RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 IAGP
EXP		 DNA:frameshift mutation:exon:c.5489del (human)
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)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11070805, RGD:11063677 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 NCBI chr12:88,062,639...88,062,839 JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4		 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130059035 ATAC-STARR-seq lymphoblastoid silent region 7502 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 5 ClinVar NCBI chr16:53,703,769...53,703,818 JBrowse link
G RPGRIP1L RPGRIP1 like IAGP
EXP		 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 chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		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 IAGP
EXP		 ClinVar Annotator: match by term: Meckel syndrome, type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G TCTN2 tectonic family member 2 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hydranencephaly and microcephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16237707 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16602021 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP DNA:deletion:intron:rs35565219 (human)
DNA:SNPs, haplotype: :rs710218, rs2229682 (human)		 RGD PMID:21135204 PMID:23427181 RGD:11070819, RGD:12879498 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		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 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranium bifidum occultum
OMIM:168500 | OMIM:609566 | OMIM:609597		 CTD
ClinVar
MouseDO		 PMID:11137991 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G MSX2 msh homeobox 2 EXP
IAGP
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 chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		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 IAGP ClinVar Annotator: match by term: Parietal foramina 1 ClinVar
OMIM		 PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		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 IAGP
EXP		 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 chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		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 IAGP
EXP		 ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14571277 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
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
ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
OMIM:225790
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 More... NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FLVCR2-AS1 FLVCR2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Fowler syndrome
ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		 ClinVar PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 More... NCBI chr14:75,574,901...75,579,588
Ensembl chr14:75,574,888...75,579,652 		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 IAGP DNA:polymorphism: :p.D148E (human) RGD PMID:15887293 RGD:2315675 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP
IAGP		 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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CFL1 cofilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17352815 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CHKA choline kinase alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17184542 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO RGD PMID:11953746 RGD:737785 NCBI chr10:93,073,475...93,077,885
Ensembl chr10:93,073,475...93,077,885 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISS MouseDO NCBI chr19:18,531,763...18,543,573
Ensembl chr19:18,531,751...18,544,077 		JBrowse link
G GLI1 GLI family zinc finger 1 IEP protein:increased expression:brain RGD PMID:26446020 RGD:12801432 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI2 GLI family zinc finger 2 IDA DNA, protein:hypermethylation, decreased expression:promoter, brain RGD PMID:26446020 RGD:12801432 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G LOC126862536 BRD4-independent group 4 enhancer GRCh37_chr17:32578883-32580082 IAGP ClinVar Annotator: match by term: Spina bifida, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr17:34,251,864...34,253,063 JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP RGD PMID:9611072 RGD:1600190 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association
severity		 IAGP
EXP		 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 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP DNA:polymorphism: :2756A>G(human) RGD PMID:12375236 RGD:1302512 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:polymorphism: :66A>G(human) RGD PMID:12590188 PMID:12375236 RGD:5508199, RGD:1302512 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G NKX2-8 NK2 homeobox 8 ISO Spinal dysraphism OMIA PMID:375559 PMID:1641930 PMID:4434313 PMID:4732250 PMID:5023160 More... NCBI chr14:36,580,004...36,582,614
Ensembl chr14:36,580,004...36,582,614 		JBrowse link
G PAX3 paired box 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3902948 PMID:6385329 PMID:12854658 PMID:17149730 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16256389 NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,444...149,811,420 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline EXP CTD Direct Evidence: marker/mechanism CTD PMID:17184542 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21031563 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PTCH1 patched 1 IEP protein:decreased expression:brain RGD PMID:26446020 RGD:12801432 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RNF2 ring finger protein 2 ISO RGD PMID:20515739 RGD:9491842 NCBI chr 1:185,045,558...185,102,603
Ensembl chr 1:185,045,526...185,102,603 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO RGD PMID:20515739 RGD:9491842 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TXN2 thioredoxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19165900 NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21404367 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		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 chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ACTL6B actin like 6B ISO RGD PMID:23677776 RGD:9587760 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:8422324 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G RUNX1 RUNX family transcription factor 1 treatment ISO RGD PMID:26172505 RGD:11251712 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RUNX1 RUNX family transcription factor 1 treatment ISO RGD PMID:26172505 RGD:11251712 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		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 IAGP ClinVar Annotator: match by term: Occult spinal dysraphism sequence ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      neural tube defect 149
        Acalvaria 0
        Arnold-Chiari Malformation + 2
        Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
        Encephalocele + 35
        Folate-Sensitive Neural Tube Defects 6
        Midline Defects, X-Linked 0
        Neural Tube Defects X-Linked 0
        Pentalogy of Cantrell 0
        anencephaly + 22
        myelomeningocele + 5
        parietal foramina + 2
        spina bifida + 45
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14117
          Nervous System Malformations 3148
            neural tube defect 149
              Acalvaria 0
              Arnold-Chiari Malformation + 2
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Encephalocele + 35
              Folate-Sensitive Neural Tube Defects 6
              Midline Defects, X-Linked 0
              Neural Tube Defects X-Linked 0
              Pentalogy of Cantrell 0
              anencephaly + 22
              myelomeningocele + 5
              parietal foramina + 2
              spina bifida + 45
paths to the root