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
Accession: DOID:0080074
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
For additional species annotation, visit the
Alliance of Genome Resources .
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Adnp
activity-dependent neuroprotector homeobox
ISO
RGD
PMID:15886480
RGD:2312793
NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
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Alx3
ALX homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20534379
NCBI chr 2:210,376,510...210,386,928
Ensembl chr 2:210,381,829...210,386,928
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Ambra1
autophagy and beclin 1 regulator 1
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
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Apaf1
apoptotic peptidase activating factor 1
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
PMID:25741868
NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
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Arl13b
ADP-ribosylation factor like GTPase 13B
ISO
DNA:transversion:intron:IVS2+2T>G (mouse)
RGD
PMID:17488627
RGD:11553935
NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
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Arsg
arylsulfatase G
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
NCBI chr10:97,722,550...97,859,975
Ensembl chr10:97,771,264...97,863,311
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Bhmt
betaine-homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17035141
NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
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Casq2
calsequestrin 2
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
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Cbs
cystathionine beta synthase
no_association
ISO
DNA:polymorphism:677C > T
RGD
PMID:12649066 , PMID:12649066
RGD:1600627 , RGD:1600627
NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cecr2
CECR2, histone acetyl-lysine reader
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15640247
NCBI chr 4:153,217,521...153,327,153
Ensembl chr 4:153,217,782...153,322,564
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
RGD
PMID:11823447
RGD:734781
NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17075842
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20641098
NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
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Dlc1
DLC1 Rho GTPase activating protein
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
PMID:25741868
NCBI chr16:58,776,489...59,247,752
Ensembl chr16:59,077,574...59,247,754
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Folr1
folate receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15800851
NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
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Folr2
folate receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11749123
NCBI chr 1:166,915,045...166,933,377
Ensembl chr 1:166,915,045...166,919,302
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Fuz
fuzzy planar cell polarity protein
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:100,891,832...100,896,811
Ensembl chr 1:100,891,866...100,896,807
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17400914
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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Gldc
glycine decarboxylase
ISO
RGD
PMID:25736695
RGD:12904662
NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
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Gli3
GLI family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16359493
NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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Grhl3
grainyhead-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6635991
NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17075842
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19446573
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Itgb1
integrin subunit beta 1
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
PMID:25741868
NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
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Kat2a
lysine acetyltransferase 2A
ISO
DNA:missense mutations:exons:p.E568A, p.D609A (mouse)
RGD
PMID:17325035
RGD:9590240
NCBI chr10:88,611,586...88,619,558
Ensembl chr10:88,611,586...88,619,537
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Kdm2b
lysine demethylase 2B
ISO
RGD
PMID:21220025
RGD:9588256
NCBI chr12:39,021,924...39,161,954
Ensembl chr12:39,078,119...39,161,956
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Lrp6
LDL receptor related protein 6
ISS
OMIM:182940 | OMIM:301410 | OMIM:601634
MouseDO
NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
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Mlf1
myeloid leukemia factor 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr 2:164,549,423...164,582,645
Ensembl chr 2:164,549,455...164,582,643
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:1958G>A (rs2236225)(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:12384833 PMID:16552426 , PMID:16315005 , PMID:25524527
RGD:1600189 , RGD:11086705
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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Mthfd1l
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
susceptibility
ISO ISS
DNA:deletion/insertion polymorphism:splice junction:rs3832406(human) OMIM:182940 | OMIM:301410 | OMIM:601634
MouseDO
PMID:19777576 , PMID:23267094
RGD:12914147 , RGD:12914149
NCBI chr 1:40,529,092...40,719,232
Ensembl chr 1:40,529,045...40,719,391
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neural tube defect DNA:polymorphism: :677C>T(human)
CTD ClinVar
PMID:23056169 PMID:25736335 PMID:25741868 , PMID:8826441
RGD:11565102
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISS
OMIM:182940 | OMIM:301410 | OMIM:601634
MouseDO
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISS
OMIM:182940 | OMIM:301410 | OMIM:601634
MouseDO
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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Nat2
N-acetyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20641098
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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Npm1
nucleophosmin 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
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Npy1r
neuropeptide Y receptor Y1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17400914
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
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Pard3
par-3 family cell polarity regulator
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
PMID:27925688
NCBI chr19:60,017,746...60,580,628
Ensembl chr19:60,017,746...60,580,651
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Pax3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:3293260 PMID:12739027 PMID:12854658
NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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Por
cytochrome p450 oxidoreductase
ISO
RGD
PMID:11742006
RGD:4889811
NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Prss8
serine protease 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24722141
NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
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Pyy
peptide YY
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17400914
NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
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Rad9b
RAD9 checkpoint clamp component B
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
NCBI chr12:39,699,076...39,731,218
Ensembl chr12:39,699,181...39,729,516
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Rrm1
ribonucleotide reductase catalytic subunit M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10716750
NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
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Sall4
spalt-like transcription factor 4
ISO
RGD
PMID:18818376
RGD:11556229
NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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Ski
SKI proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9284043
NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
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Slc2a2
solute carrier family 2 member 2
ISO
associated with Hyperglycemia
RGD
PMID:17235524
RGD:2312360
NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
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Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24722141
NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
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Tbxt
T-box transcription factor T
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:52,887,067...52,900,691
Ensembl chr 1:52,887,067...52,894,832
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Vangl1
VANGL planar cell polarity protein 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neural tube defects, susceptibility to ClinVar Annotator: match by OMIM:182940
CTD ClinVar OMIM
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
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Vangl2
VANGL planar cell polarity protein 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:2373757
NCBI chr13:90,379,203...90,405,627
Ensembl chr13:90,380,632...90,405,591
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Wipi1
WD repeat domain, phosphoinositide interacting 1
ISO
ClinVar Annotator: match by term: Neural tube defect
ClinVar
NCBI chr10:97,859,730...97,896,949
Ensembl chr10:97,859,727...97,896,525
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Zic2
Zic family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15136147 , PMID:15118671
RGD:1331525
NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
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Zic5
Zic family member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15136147
NCBI chr15:108,891,992...108,907,601
Ensembl chr15:108,891,992...108,898,703
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Alx1
ALX homeobox 1
ISO
RGD
PMID:8673125
RGD:734689
NCBI chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
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Cecr2
CECR2, histone acetyl-lysine reader
ISS
OMIM:206500
MouseDO
NCBI chr 4:153,217,521...153,327,153
Ensembl chr 4:153,217,782...153,322,564
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Efna5
ephrin A5
ISS
OMIM:206500
MouseDO
NCBI chr 9:110,054,002...110,329,878
Ensembl chr 9:110,057,155...110,225,486
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Lmo4
LIM domain only 4
ISS
OMIM:206500
MouseDO
NCBI chr 2:250,218,635...250,235,435
Ensembl chr 2:250,218,641...250,241,673
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:point mutation:intron:c.-26+755C>A (rs326119) (human)
RGD
PMID:26045171
RGD:11098877
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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Rpgrip1l
Rpgrip1-like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Trim36
tripartite motif-containing 36
ISO
ClinVar Annotator: match by term: Anencephalus
ClinVar OMIM
PMID:28087737
NCBI chr18:40,081,028...40,134,673
Ensembl chr18:40,082,442...40,134,504
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Erf
Ets2 repressor factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23354439
NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Arnold-Chiari malformation
ClinVar
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
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Casq2
calsequestrin 2
ISO
ClinVar Annotator: match by term: Caudal dysgenesis syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
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Cdx2
caudal type homeo box 2
ISO
ClinVar Annotator: match by term: Sirenomelia
ClinVar
PMID:25741868
NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Sacral agenesis
ClinVar
PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:16084090 PMID:16835904 PMID:16917943 PMID:19648156 PMID:19919814 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25558065 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532
NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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Vangl1
VANGL planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar Annotator: match by term: Caudal dysgenesis syndrome ClinVar Annotator: match by synonym: Caudal regression syndrome
OMIM ClinVar
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
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Zbtb16
zinc finger and BTB domain containing 16
IAGP
RGD
PMID:27727328
RGD:40924666
NCBI chr 8:52,980,226...53,146,765
Ensembl chr 8:52,985,313...53,146,953
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:25741868 PMID:26862157 PMID:31680349
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Occipital encephalocele ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:17345604 PMID:17564974 PMID:17705300 PMID:20683928 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29398085 PMID:31680349
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Dnai3
dynein axonemal intermediate chain 3
ISO
ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:29285825
NCBI chr 2:251,912,432...251,970,699
Ensembl chr 2:251,912,368...251,970,768
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Cephalocele
ClinVar
PMID:30858804 PMID:31474318
NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
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Rpgrip1l
Rpgrip1-like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349
NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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LOC102551309
uncharacterized LOC102551309
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive
ClinVar
NCBI chr 5:164,875,558...164,885,606
Ensembl chr 5:164,874,832...164,883,933
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to
OMIM ClinVar
PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:24033266 PMID:28492532
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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Mthfr
methylenetetrahydrofolate reductase
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar Annotator: match by OMIM:601634
OMIM ClinVar
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10677336 PMID:10732818 PMID:10869114 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12733064 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20356773 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25741868 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28492532 PMID:28696419 PMID:29683944
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
OMIM ClinVar
PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 PMID:12923861 PMID:25227144
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
OMIM ClinVar
PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12923861 PMID:15797993 PMID:15979034 PMID:16013960 PMID:18368069 PMID:22992668 PMID:25227144 PMID:25741868
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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Cep55
centrosomal protein 55
ISO
ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia
ClinVar
PMID:25741868 PMID:28264986 PMID:28295209
NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
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Adamts18
ADAM metallopeptidase with thrombospondin type 1 motif, 18
ISO
ClinVar Annotator: match by synonym: Knobloch syndrome 1
ClinVar
PMID:21862674 PMID:23667181
NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
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Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar Annotator: match by OMIM:267750 ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
OMIM ClinVar
PMID:1554013 PMID:10942434 PMID:12415512 PMID:14695535 PMID:17546652 PMID:17975799 PMID:19160445 PMID:19390655 PMID:20799329 PMID:20979194 PMID:21862674 PMID:21937992 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:30007336 PMID:32860008
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar
PMID:1554013 PMID:14695535 PMID:19390655 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Lehman syndrome ClinVar Annotator: match by term: Lateral meningocele syndrome
ClinVar OMIM
PMID:9188658 PMID:15666314 PMID:21337686 PMID:23696373 PMID:25394726 PMID:25741868 PMID:26754023
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar
PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:16909394 PMID:17345604 PMID:17564974 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26047050 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29398085
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Meckel syndrome type 1 DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) DNA:deletion:intron:IVS15-7_35del (human) DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) ClinVar Annotator: match by OMIM:249000 ClinVar Annotator: match by null
OMIM ClinVar
PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17935508 PMID:18327255 PMID:19430481 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:30718709 , PMID:23351400 , PMID:17935508 , PMID:19776033 , PMID:21045211 , PMID:17397051
RGD:11535078 , RGD:11535074 , RGD:11535068 , RGD:11535065 , RGD:11063991
NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: MECKEL SYNDROME 13
ClinVar OMIM
PMID:26123494 PMID:26595381
NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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Tmem216
transmembrane protein 216
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 2 ClinVar Annotator: match by term: Meckel syndrome type 2 ClinVar Annotator: match by OMIM:603194 DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM ClinVar
PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 , PMID:20512146
RGD:11067331
NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
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Tmem67
transmembrane protein 67
ISO IAGP
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 ClinVar Annotator: match by term: Meckel syndrome, type 3 ClinVar Annotator: match by term: Meckel syndrome type 3 DNA:deletion DNA:deletions, missense mutation, splice-site mutations: :multiple DNA:missense mutation:exon:p.P394L (rat) DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) DNA:missense mutations, splice-site mutation:exon:multiple ClinVar Annotator: match by OMIM:607361
OMIM ClinVar
PMID:2929661 PMID:9375913 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22121117 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28973083 PMID:29127258 PMID:29891882 PMID:29974258 , PMID:19211713 , PMID:16415887 , PMID:16415887 , PMID:26191240 , PMID:23351400 , PMID:17377820 , PMID:17397051
RGD:11535945 , RGD:11535082 , RGD:11535082 , RGD:11535080 , RGD:11535078 , RGD:11068761 , RGD:11063991
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:16415887
RGD:11535082
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar Annotator: match by term: Meckel syndrome type 4 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 ClinVar Annotator: match by OMIM:611134 DNA:frameshift mutation:exon:c.5489del (human)
OMIM ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23351400 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25741868 PMID:25818971 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28497568 PMID:29146704 PMID:29398085 PMID:29588463 PMID:30718709 PMID:31680349 PMID:31734136 , PMID:17705300
RGD:11070805
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:28492532
NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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Tmem218
transmembrane protein 218
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 5 ClinVar Annotator: match by term: Meckel syndrome type 5 ClinVar Annotator: match by OMIM:611561
OMIM ClinVar
PMID:17558409 PMID:18414213 PMID:19430481 PMID:21068128 PMID:23188109 PMID:24033266 PMID:25741868 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar Annotator: match by OMIM:612284 ClinVar Annotator: match by null
OMIM ClinVar
PMID:8253763 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22995991 PMID:24360807 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28492532 PMID:32488064
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar
PMID:16682970 PMID:16682973 PMID:17564967 PMID:18327255 PMID:18414213 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Tctn2
tectonic family member 2
ISO
ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar
PMID:21462283 PMID:23169490 PMID:26729329
NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
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Kif14
kinesin family member 14
ISO
ClinVar Annotator: match by term: Meckel syndrome 12
ClinVar OMIM
PMID:24128419 PMID:25741868
NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Microhydranencephaly ClinVar Annotator: match by OMIM:605013
OMIM ClinVar
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25741868
NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
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Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16237707
NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16602021
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Slc2a1
solute carrier family 2 member 1
ISO
DNA:deletion:intron:rs35565219 (human) DNA:SNPs, haplotype: :rs710218, rs2229682 (human)
RGD
PMID:21135204 , PMID:23427181
RGD:11070819 , RGD:12879498
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972774
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972774
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Enlarged parietal foramina CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11137991
NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Enlarged parietal foramina CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parietal foramina
ClinVar CTD
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:11137991 PMID:18786927 PMID:23918290 PMID:23949913 PMID:27013732 PMID:27884935 PMID:28492532 PMID:28808027
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Parietal foramina 1
ClinVar OMIM
PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by OMIM:609597 ClinVar Annotator: match by term: Parietal foramina 2
OMIM ClinVar
PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 PMID:28492532
NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by null
OMIM ClinVar
PMID:14571277
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Flvcr2
FLVCR heme transporter 2
ISO
ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ClinVar Annotator: match by OMIM:225790
OMIM ClinVar
PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 PMID:25677735
NCBI chr 6:109,617,348...109,681,495
Ensembl chr 6:109,617,355...109,681,495
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Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
DNA:polymorphism: :p.D148E (human)
RGD
PMID:15887293
RGD:2315675
NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
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Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Spina bifida, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cfl1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17352815
NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
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Chka
choline kinase alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17184542
NCBI chr 1:219,076,618...219,126,221
Ensembl chr 1:219,077,771...219,126,220
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Spinal dysraphism
ClinVar
PMID:25741868
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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Cyp26a1
cytochrome P450, family 26, subfamily a, polypeptide 1
ISO
RGD
PMID:11953746
RGD:737785
NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9605588
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Gli1
GLI family zinc finger 1
ISO
protein:increased expression:brain
RGD
PMID:26446020
RGD:12801432
NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
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Gli2
GLI family zinc finger 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, brain
RGD
PMID:26446020
RGD:12801432
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
ISO
RGD
PMID:9611072
RGD:1600190
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association severity
ISO
DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism: :677C>T(human)
CTD
PMID:27713094 , PMID:10791559 , PMID:15022402 , PMID:12797455
RGD:6893455 , RGD:11565178 , RGD:11565104
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:12375236
RGD:1302512
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
G
Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:12590188 , PMID:12375236
RGD:5508199 , RGD:1302512
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
G
Pax3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3902948 PMID:6385329 PMID:12854658 PMID:17149730
NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
G
Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16256389
NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
G
Pcyt1a
phosphate cytidylyltransferase 1, choline, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17184542
NCBI chr11:71,547,865...71,592,037
Ensembl chr11:71,548,222...71,591,502
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11023856
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21031563
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Ptch1
patched 1
ISO
protein:decreased expression:brain
RGD
PMID:26446020
RGD:12801432
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
G
Rnf2
ring finger protein 2
IEP
RGD
PMID:20515739
RGD:9491842
NCBI chr13:68,829,714...68,859,920
Ensembl chr13:68,830,620...68,858,809
G
Suz12
SUZ12 polycomb repressive complex 2 subunit
IEP
RGD
PMID:20515739
RGD:9491842
NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
G
Txn2
thioredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19165900
NCBI chr 7:119,144,350...119,158,173
Ensembl chr 7:119,144,351...119,158,201
G
Vangl2
VANGL planar cell polarity protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21404367
NCBI chr13:90,379,203...90,405,627
Ensembl chr13:90,380,632...90,405,591
G
Actl6a
actin-like 6A
IEP
RGD
PMID:23677776
RGD:9587760
NCBI chr 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
G
Actl6b
actin-like 6B
IEP
RGD
PMID:23677776
RGD:9587760
NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22473653
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
G
Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8422324
NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
G
Runx1
RUNX family transcription factor 1
treatment
IDA
RGD
PMID:26172505
RGD:11251712
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16122
physical disorder
2480
neural tube defect
116
Acalvaria
0
Arnold-Chiari Malformation +
2
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
0
Encephalocele +
21
Folate-Sensitive Neural Tube Defects
5
Midline Defects, X-Linked
0
Neural Tube Defects X-Linked
0
Pentalogy of Cantrell
0
anencephaly +
14
myelomeningocele +
5
parietal foramina +
2
spina bifida +
39
Path 2
disease
16122
Developmental Diseases
9597
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8441
Congenital Abnormalities
4762
Nervous System Malformations
1053
neural tube defect
116
Acalvaria
0
Arnold-Chiari Malformation +
2
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
0
Encephalocele +
21
Folate-Sensitive Neural Tube Defects
5
Midline Defects, X-Linked
0
Neural Tube Defects X-Linked
0
Pentalogy of Cantrell
0
anencephaly +
14
myelomeningocele +
5
parietal foramina +
2
spina bifida +
39