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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal neural tube morphology
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Accession:HP:0410043 term browser browse the term
Definition:Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).
Synonyms:xref: Fyler:4339



show annotations for term's descendants           Sort by:
Anencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO OMIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 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 HPO OMIM:614175 ORPHA:564 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: Anencephaly ClinVar
HPO
PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... OMIM:612284 ORPHA:564 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 HPO OMIM:611134 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:63260 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Anencephaly ClinVar
HPO
PMID:25741868 PMID:27055666 PMID:31680349 OMIM:236680 ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO OMIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIF7 kinesin family member 7 IAGP HPO OMIM:614120 ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NUAK2 NUAK family kinase 2 IAGP HPO OMIM:619452 NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP 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 RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:611561 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 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 HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:603194 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TRIM36 tripartite motif containing 36 IAGP ClinVar Annotator: match by term: Anencephaly ClinVar
HPO
PMID:28087737 OMIM:206500 NCBI chr 5:115,124,772...115,180,294
Ensembl chr 5:115,124,762...115,180,546
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
Anterior basal encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO OMIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
Basal encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
Cervical myelopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:183900 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO OMIM:133700 ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO OMIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO OMIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
Cervical spina bifida term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:63260 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
Cranium bifidum occultum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO OMIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G ALX4 ALX homeobox 4 IAGP ClinVar Annotator: match by term: Cranium bifidum occultum ClinVar NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G MSX2 msh homeobox 2 IAGP ClinVar Annotator: match by term: Cranium bifidum occultum ClinVar 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
Dermal sinus tract term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI3 forkhead box I3 IAGP HPO OMIM:620444 NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO OMIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
Encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO ORPHA:65 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO OMIM:609597 OMIM:613451 ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO OMIM:100300 ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP HPO ORPHA:475 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO ORPHA:475 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO ORPHA:475 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848
JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:475 ORPHA:564 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 HPO ORPHA:475 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP HPO ORPHA:475 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Encephalocele ClinVar
HPO
PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... OMIM:612285 ORPHA:2318 ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO ORPHA:475 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396
JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 ORPHA:220493 ORPHA:475 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Encephalocele ClinVar
HPO
PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20690115 More... OMIM:611134 ORPHA:2318 ORPHA:564 ORPHA:65 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO ORPHA:475 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:65 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CRX cone-rod homeobox IAGP HPO ORPHA:65 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO OMIM:615636 ORPHA:475 ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2117 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FKTN fukutin IAGP HPO OMIM:253800 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO OMIM:219000 ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO ORPHA:65 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO ORPHA:65 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:475 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:65 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:475 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP HPO ORPHA:65 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:65 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
JBrowse link
G KATNIP katanin interacting protein IAGP HPO ORPHA:475 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP HPO ORPHA:65 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:475 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:475 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:65 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:65 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:220493 ORPHA:475 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MSX2 msh homeobox 2 IAGP HPO OMIM:168500 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO ORPHA:65 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:220497 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:475 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP HPO OMIM:618458 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:65 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:475 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO ORPHA:475 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:613150 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G RD3 RD3 regulator of GUCY2D IAGP HPO ORPHA:65 NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162
JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:65 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:65 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 ORPHA:65 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:611560 ORPHA:220497 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:65 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:475 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:475 ORPHA:564 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 HPO OMIM:613885 ORPHA:475 ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO OMIM:614465 ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:603194 OMIM:608091 ORPHA:2318 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO ORPHA:475 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO OMIM:614424 ORPHA:220497 ORPHA:2318 ORPHA:475 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:216360 ORPHA:475 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO ORPHA:475 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP HPO ORPHA:65 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707
JBrowse link
G TULP1 TUB like protein 1 IAGP HPO ORPHA:65 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP HPO ORPHA:65 NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728
JBrowse link
G ZNF423 zinc finger protein 423 IAGP HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO OMIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Ethmoidal encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280195 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280195 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280195 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:280195 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280195 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:280195 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:280195 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280195 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:280195 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:280195 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280195 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:280195 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:280195 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280195 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:280195 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Exencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP41 centrosomal protein 41 IAGP HPO OMIM:614464 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
JBrowse link
Frontal encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
Hydranencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP55 centrosomal protein 55 IAGP HPO OMIM:236500 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092
JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO OMIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO OMIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214
JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO OMIM:605013 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G WDR81 WD repeat domain 81 IAGP ClinVar Annotator: match by term: Hydranencephaly HPO
ClinVar
PMID:25558065 PMID:25741868 PMID:28556411 OMIM:617967 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
Lipomyelomeningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:601707 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
Meningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:588 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:611134 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:588 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:588 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP HPO ORPHA:588 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1010 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:588 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:588 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO OMIM:130720 ORPHA:2789 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PAX3 paired box 3 IAGP HPO ORPHA:894 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:588 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:588 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:588 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SCAF4 SR-related CTD associated factor 4 IAGP HPO OMIM:620511 NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:603194 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO OMIM:614424 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO OMIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G WNT7A Wnt family member 7A IAGP HPO ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Meningoencephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP HPO OMIM:236670 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP HPO OMIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:236670 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
Myelomeningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO OMIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101
JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO ORPHA:66637 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:63260 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G DRG1 developmentally regulated GTP binding protein 1 IAGP HPO OMIM:620641 NCBI chr22:31,399,604...31,434,452
Ensembl chr22:31,399,604...31,528,740
JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO OMIM:219000 ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:2128 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO OMIM:613686 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO ORPHA:2128 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO ORPHA:2128 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
JBrowse link
G MSX2 msh homeobox 2 IAGP HPO ORPHA:60015 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:193500 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO ORPHA:94065 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO OMIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G ZIC3 Zic family member 3 IAGP HPO OMIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Myelopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G BTD biotinidase IAGP HPO ORPHA:79241 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO OMIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
Myeloschisis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO OMIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
Nasofrontal encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX1 visual system homeobox 1 IAGP HPO OMIM:614195 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141
JBrowse link
Neural tube defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
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 chr12:98,645,149...98,735,433
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 CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Neural tube defect
ClinVar Annotator: match by term: Abnormality of neural tube closure
ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,793,195
JBrowse link
G CDH1 cadherin 1 IAGP HPO OMIM:119580 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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 DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25741868 PMID:28492532 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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 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 MTHFR methylenetetrahydrofolate reductase IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:25736335 PMID:25741868 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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 PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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 PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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 RXYLT1 ribitol xylosyltransferase 1 IAGP HPO OMIM:615041 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
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 SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TBXT T-box transcription factor T IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar PMID:15449172 PMID:25741868 NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Neural tube defect
ClinVar Annotator: match by term: Abnormality of neural tube closure
ClinVar PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 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 IAGP ClinVar Annotator: match by term: Neural tube defect ClinVar 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 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Occipital encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP HPO OMIM:612291 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO OMIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO OMIM:614209 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 HPO OMIM:614175 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO OMIM:615948 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO OMIM:612284 ORPHA:1454 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
HPO
PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... OMIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 ORPHA:1571 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO OMIM:615636 ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO OMIM:614416 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
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 FKRP fukutin related protein IAGP HPO OMIM:236670 ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP HPO OMIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:224410 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G LAMB1 laminin subunit beta 1 IAGP HPO OMIM:615191 ORPHA:352682 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MSX2 msh homeobox 2 IAGP HPO ORPHA:60015 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP HPO ORPHA:1571 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:236670 ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:611561 ORPHA:1454 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO OMIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO OMIM:613885 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO OMIM:614815 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO OMIM:617562 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO OMIM:619562 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO OMIM:615397 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM67 transmembrane protein 67 IAGP DNA:missense mutation:exon:p.R549C (c.1645C>T) HPO
RGD
PMID:26191240 OMIM:216360 OMIM:607361 ORPHA:1454, RGD:11535080 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO OMIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO OMIM:619879 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
Occipital meningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO OMIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO OMIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:601707 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Occipital myelomeningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
Spina bifida term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO OMIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:3412 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FLNA filamin A IAGP HPO OMIM:304120 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO ORPHA:2345 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO ORPHA:2345 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO ORPHA:2345 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922
JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO ORPHA:64754 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NF1 neurofibromin 1 IAGP HPO OMIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:193500 ORPHA:894 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO OMIM:616038 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 IAGP HPO OMIM:620439 NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO OMIM:619480 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TRIM36 tripartite motif containing 36 IAGP HPO OMIM:206500 NCBI chr 5:115,124,772...115,180,294
Ensembl chr 5:115,124,762...115,180,546
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
Spina bifida occulta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:64755 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO OMIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:617877 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO OMIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CCNQ cyclin Q IAGP HPO OMIM:300707 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045
JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP HPO OMIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CUL7 cullin 7 IAGP HPO OMIM:273750 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO OMIM:617466 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 IAGP HPO OMIM:615281 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP HPO OMIM:150250 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO OMIM:613686 ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HMX1 H6 family homeobox 1 IAGP HPO OMIM:612109 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO OMIM:119500 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO OMIM:135500 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO OMIM:257920 ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754
JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:193700 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO ORPHA:64754 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:2289 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515
JBrowse link
G RORA RAR related orphan receptor A IAGP HPO OMIM:618060 NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302
JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO OMIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO ORPHA:1797 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924
JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TNXB tenascin XB IAGP HPO ORPHA:230839 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WBP11 WW domain binding protein 11 IAGP HPO OMIM:619227 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486
JBrowse link
G ZIC1 Zic family member 1 IAGP HPO OMIM:616602 OMIM:618736 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
JBrowse link
Spinal dysraphism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMS1 BMS1 ribosome biogenesis factor IAGP HPO ORPHA:1114 NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:63260 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:1114 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO OMIM:617660 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:1114 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP HPO OMIM:601634 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO OMIM:601634 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 HPO OMIM:601634 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 IAGP HPO OMIM:601634 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:612918 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PLEC plectin IAGP HPO ORPHA:1114 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO ORPHA:1114 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73992
    Phenotypic abnormality 73775
      Abnormality of the nervous system 28546
        Abnormal nervous system morphology 5279
          Morphological central nervous system abnormality 5165
            Abnormal neural tube morphology 329
              Neural tube defect + 329
paths to the root