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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 OMIM:615287 HPO 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 ORPHA:564 HPO 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 OMIM:614175 ORPHA:564 HPO 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 OMIM:612284 ORPHA:564
ClinVar Annotator: match by term: Anencephaly		 HPO
ClinVar		 PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP OMIM:182940 HPO NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CEP290 centrosomal protein 290 IAGP OMIM:611134 ORPHA:564 HPO 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 ORPHA:564 HPO 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 ORPHA:63260 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP OMIM:182940 HPO NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:887 HPO 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 OMIM:236680
ClinVar Annotator: match by term: Anencephaly		 HPO
ClinVar		 PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G KIAA0586 KIAA0586 IAGP OMIM:616546 HPO 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 OMIM:614120 HPO 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 OMIM:249000 ORPHA:564 HPO 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 OMIM:619452 HPO 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 ORPHA:564 HPO NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP OMIM:611561 ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G TBXT T-box transcription factor T IAGP OMIM:182940 HPO NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700 		JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:564 HPO 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 ORPHA:564 HPO 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 ORPHA:564 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP OMIM:603194 ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:564 HPO 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 ORPHA:564 HPO 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 OMIM:206500
ClinVar Annotator: match by term: Anencephaly		 HPO
ClinVar		 PMID:28087737 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 ORPHA:564 HPO NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP OMIM:182940 HPO 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 OMIM:182940 HPO NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		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 OMIM:136760 HPO NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
Arrhinencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ORPHA:51 HPO NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP OMIM:277170 HPO NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G FANCB FA complementation group B IAGP ORPHA:3412 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ORPHA:3027 HPO NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO 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 ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680 ORPHA:2189 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP ORPHA:51 HPO NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KIF14 kinesin family member 14 IAGP OMIM:617914 HPO NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF7 kinesin family member 7 IAGP ORPHA:2189 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP ORPHA:51 HPO NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP ORPHA:51 HPO NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ORPHA:51 HPO NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP ORPHA:51 HPO NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP ORPHA:51 HPO NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP ORPHA:51 HPO NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ORPHA:1788 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP ORPHA:1106 HPO NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ORPHA:79500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCTN3 tectonic family member 3 IAGP OMIM:614815 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ORPHA:51 HPO NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ORPHA:3027 HPO NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		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 ORPHA:391474 HPO 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 OMIM:253200 HPO 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 OMIM:183900 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO 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 ORPHA:321 HPO 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 OMIM:253000 HPO NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP OMIM:253010 HPO 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 OMIM:617186 HPO 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 OMIM:619260 HPO 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 ORPHA:63260 HPO 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 ORPHA:306542 HPO NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP OMIM:136760 ORPHA:391474 HPO 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 VANGL1 VANGL planar cell polarity protein 1 IAGP OMIM:600145 HPO 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 ORPHA:220493 ORPHA:475 HPO 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 ORPHA:65 HPO NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G ALX4 ALX homeobox 4 IAGP OMIM:609597 OMIM:613451 ORPHA:228390 HPO 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 OMIM:100300 ORPHA:974 HPO 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 ORPHA:475 HPO 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 ORPHA:475 HPO 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 ORPHA:475 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:475 HPO NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G CBY1 chibby family member 1, beta catenin antagonist IAGP ORPHA:475 HPO 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 OMIM:612285 ORPHA:2318 ORPHA:564
ClinVar Annotator: match by term: Encephalocele		 HPO
ClinVar		 PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ORPHA:475 HPO 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 OMIM:616300 ORPHA:220493 ORPHA:475 HPO 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 OMIM:611134 ORPHA:2318 ORPHA:564 ORPHA:65
ClinVar Annotator: match by term: Encephalocele		 HPO
ClinVar		 PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20690115 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP ORPHA:220493 ORPHA:475 HPO 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 ORPHA:475 HPO 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 ORPHA:65 HPO 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 OMIM:614643 HPO 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 ORPHA:65 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:974 HPO 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 ORPHA:974 HPO 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 ORPHA:974 HPO 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 ORPHA:2117 HPO 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 ORPHA:93274 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FKTN fukutin IAGP OMIM:253800 HPO 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 ORPHA:90652 HPO 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 OMIM:108720 HPO 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 OMIM:219000 ORPHA:2052 HPO 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 ORPHA:2052 HPO 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 ORPHA:65 HPO 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 ORPHA:2052 HPO 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 ORPHA:65 HPO 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 ORPHA:1865 HPO 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 ORPHA:475 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP ORPHA:65 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP ORPHA:65 HPO NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,410,252 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ORPHA:220493 ORPHA:475 HPO 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 ORPHA:65 HPO 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 ORPHA:475 HPO 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 ORPHA:65 HPO NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565 		JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:475 HPO NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LCA5 lebercilin LCA5 IAGP ORPHA:65 HPO 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 ORPHA:65 HPO 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 ORPHA:220493 ORPHA:475 ORPHA:564 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MSX2 msh homeobox 2 IAGP OMIM:168500 HPO 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 ORPHA:65 HPO 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 ORPHA:974 HPO 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 ORPHA:220497 HPO NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP OMIM:618458 HPO 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 ORPHA:65 HPO NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ORPHA:475 HPO 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 ORPHA:861 HPO 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 ORPHA:861 HPO 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 ORPHA:861 HPO 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 OMIM:613150 HPO 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 ORPHA:974 HPO 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 ORPHA:65 HPO 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 ORPHA:65 HPO NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ORPHA:65 HPO NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ORPHA:564 ORPHA:65 HPO NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP OMIM:611560 ORPHA:220497 ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP ORPHA:65 HPO 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 ORPHA:475 HPO 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 ORPHA:861 HPO 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 ORPHA:475 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:564 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP OMIM:614465 ORPHA:2318 HPO NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP OMIM:603194 OMIM:608091 ORPHA:2318 ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP ORPHA:475 HPO NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:2318 ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP OMIM:614424 ORPHA:220497 ORPHA:2318 ORPHA:475 ORPHA:564 HPO 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 OMIM:216360 ORPHA:475 ORPHA:564 HPO 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 ORPHA:475 HPO 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 ORPHA:65 HPO 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 ORPHA:65 HPO 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 ORPHA:564 HPO 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 ORPHA:65 HPO 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 ORPHA:2318 HPO 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 OMIM:603671 ORPHA:1827 HPO 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 ORPHA:280195 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:280195 HPO 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 ORPHA:280195 HPO 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 ORPHA:280195 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:280195 HPO 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 ORPHA:280195 HPO 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 ORPHA:280195 HPO 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 ORPHA:280195 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G PTCH1 patched 1 IAGP ORPHA:280195 HPO 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 ORPHA:280195 HPO 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 ORPHA:280195 HPO 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 ORPHA:280195 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:280195 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:280195 HPO 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 ORPHA:280195 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		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 OMIM:268300 HPO 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 OMIM:236500 HPO NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G FLVCR2 FLVCR heme transporter 2 IAGP OMIM:225790 HPO 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 ORPHA:2570 HPO 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 OMIM:605013 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:256520 HPO 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 ORPHA:1393 HPO 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 OMIM:260660 HPO 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 OMIM:617967
ClinVar Annotator: match by term: Hydrancephaly		 HPO
ClinVar		 PMID:25558065 PMID:25741868 PMID:28556411 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 SMO smoothened, frizzled class receptor IAGP OMIM:601707 HPO 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 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP ORPHA:588 HPO 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 OMIM:611134 HPO 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 ORPHA:397715 HPO 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 ORPHA:2311 HPO NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G FKRP fukutin related protein IAGP ORPHA:588 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP ORPHA:588 HPO 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 ORPHA:1010 HPO 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 ORPHA:588 HPO NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ORPHA:2311 HPO NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:397715 HPO 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 ORPHA:588 HPO 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 ORPHA:2311 HPO 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 ORPHA:2311 HPO NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G NOTCH3 notch receptor 3 IAGP OMIM:130720 ORPHA:2789 HPO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PAX3 paired box 3 IAGP ORPHA:894 HPO 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 ORPHA:588 HPO 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 ORPHA:588 HPO 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 ORPHA:588 HPO 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 ORPHA:2311 HPO NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G SC5D sterol-C5-desaturase IAGP ORPHA:46059 HPO NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP OMIM:603194 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP OMIM:600145 HPO 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 ORPHA:2879 HPO 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 ORPHA:1827 HPO 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 OMIM:236670 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:236670 HPO 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 OMIM:236670 HPO 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 OMIM:236670 HPO 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 OMIM:236670 HPO 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 ORPHA:60015 HPO 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 OMIM:620141 HPO 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 ORPHA:66637 HPO NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP OMIM:182940 HPO NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ORPHA:63260 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G FLNA filamin A IAGP ORPHA:90652 HPO 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 OMIM:219000 ORPHA:2052 HPO 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 ORPHA:2052 HPO NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ORPHA:1136 HPO NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO 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 ORPHA:2052 HPO 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 ORPHA:2128 HPO NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,001,470 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP OMIM:613686 HPO 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 ORPHA:2128 HPO 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 ORPHA:2128 HPO NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994 		JBrowse link
G MSX2 msh homeobox 2 IAGP ORPHA:60015 HPO 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 OMIM:311200 HPO 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 OMIM:193500 HPO 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 OMIM:305600 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G SC5D sterol-C5-desaturase IAGP OMIM:607330 HPO NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP ORPHA:94065 HPO 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 ORPHA:1393 HPO NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G TBXT T-box transcription factor T IAGP OMIM:182940 HPO NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP OMIM:182940 HPO 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 OMIM:182940 HPO NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:306955 HPO 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 ORPHA:139396 HPO NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G BTD biotinidase IAGP ORPHA:79241 HPO NCBI chr 3:15,601,352...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 ORPHA:909 HPO 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 ORPHA:268882 HPO 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 OMIM:252500 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ORPHA:637 HPO NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:90307 HPO 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 OMIM:600145 HPO 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 OMIM:614195 HPO 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 ORPHA:79321 HPO 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 chr12:98,645,290...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 1:115,700,021...115,768,714 		JBrowse link
G CDH1 cadherin 1 IAGP OMIM:119580 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:93925 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 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 ORPHA:798 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G STAG2 stromal antigen 2 IAGP ORPHA:93925 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:60015 HPO 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 OMIM:612291 HPO 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 OMIM:615287 HPO 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 OMIM:614209 HPO 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 OMIM:614175 HPO 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 OMIM:615948 HPO 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 OMIM:612284 ORPHA:1454 HPO 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
OMIM:610188		 ClinVar
HPO		 PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... 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 OMIM:267750 ORPHA:1571 HPO 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 OMIM:615636 ORPHA:397715 HPO 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 OMIM:614416 HPO 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 OMIM:236670 ORPHA:370959 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:236670 HPO 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 ORPHA:370959 HPO 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 ORPHA:887 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ORPHA:1454 HPO NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:397715 HPO 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 OMIM:615191 ORPHA:352682 HPO 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 OMIM:236670 HPO 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 OMIM:249000 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MSX2 msh homeobox 2 IAGP ORPHA:60015 HPO 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 ORPHA:1571 HPO 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 ORPHA:370959 HPO 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 ORPHA:370959 HPO 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 OMIM:236670 ORPHA:370959 HPO 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 OMIM:236670 ORPHA:370959 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP OMIM:611561 ORPHA:1454 HPO 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 OMIM:164210 HPO 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 OMIM:241800 HPO 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 OMIM:613885 HPO 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 OMIM:614815 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP OMIM:617562 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP OMIM:619562 HPO NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP OMIM:615397 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP OMIM:216360 OMIM:607361 ORPHA:1454
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)		 HPO
RGD		 PMID:26191240 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 OMIM:617255 HPO 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 OMIM:619879 HPO 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 OMIM:267750 HPO 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 OMIM:277170 HPO NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP OMIM:601707 HPO 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 OMIM:276820 HPO 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 ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO 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 ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP OMIM:213300 HPO NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO 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 ORPHA:567 HPO NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		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 ORPHA:567 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:3412 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:2308 HPO NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLNA filamin A IAGP OMIM:304120 HPO 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 ORPHA:2345 HPO 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 ORPHA:2345 HPO 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 ORPHA:567 HPO 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 ORPHA:567 HPO 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 ORPHA:2874 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO 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 ORPHA:363965 HPO 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 OMIM:161200 HPO 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 ORPHA:84 HPO 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 ORPHA:2345 HPO NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G NF1 neurofibromin 1 IAGP OMIM:162200 HPO 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 ORPHA:84 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX3 paired box 3 IAGP OMIM:193500 HPO 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 OMIM:256520 HPO 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 ORPHA:2092 HPO 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 OMIM:616038 HPO 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 OMIM:109400 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508498 HPO 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 ORPHA:84 HPO NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO 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 OMIM:274000 HPO 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 ORPHA:84 HPO 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 ORPHA:567 HPO 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 ORPHA:567 HPO 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 ORPHA:99742 HPO 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 ORPHA:84 HPO 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 ORPHA:1393 HPO 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 OMIM:114290 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP OMIM:619480 HPO 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 ORPHA:567 HPO 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 OMIM:206500 HPO 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 ORPHA:84 HPO 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 ORPHA:567 HPO 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 ORPHA:84 HPO 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 ORPHA:64755 HPO 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 OMIM:300373 ORPHA:2780 HPO 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 OMIM:135900 HPO 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 ORPHA:79500 HPO 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 ORPHA:709 HPO 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 ORPHA:904 HPO 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 ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP OMIM:617877 HPO 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 ORPHA:500 HPO 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 ORPHA:904 HPO 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 OMIM:235510 HPO NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP OMIM:182940 HPO NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCNQ cyclin Q IAGP OMIM:300707 HPO 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 OMIM:617360 HPO 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 ORPHA:233 HPO 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 ORPHA:2990 HPO 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 ORPHA:904 HPO 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 OMIM:267750 HPO 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 ORPHA:293843 HPO 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 ORPHA:293843 HPO 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 OMIM:180849 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CUL7 cullin 7 IAGP OMIM:273750 HPO 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 OMIM:617466 HPO 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 OMIM:615281 HPO 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 ORPHA:2311 HPO 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 ORPHA:904 HPO 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 ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP ORPHA:904 HPO 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 OMIM:180849 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ORPHA:500095 HPO 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 ORPHA:904 HPO 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 ORPHA:1826 HPO 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 OMIM:150250 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP OMIM:182940 HPO NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO 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 ORPHA:904 HPO 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 ORPHA:904 HPO 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 OMIM:613686 ORPHA:2311 HPO 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 OMIM:612109 HPO 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 ORPHA:464 HPO 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 OMIM:119500 HPO 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 OMIM:135500 HPO 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 ORPHA:2311 HPO 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 ORPHA:235 HPO 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 ORPHA:904 HPO 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 ORPHA:233 HPO 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 ORPHA:1826 HPO 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 OMIM:257920 ORPHA:293843 HPO 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 ORPHA:2311 HPO NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO 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 ORPHA:904 HPO 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 OMIM:193700 ORPHA:2990 HPO 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 ORPHA:904 HPO 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 ORPHA:64754 HPO 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 ORPHA:2289 HPO 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 ORPHA:235 HPO 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 OMIM:301030 HPO 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 OMIM:305600 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP OMIM:151100 ORPHA:500 HPO 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 ORPHA:508488 HPO 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 OMIM:201000 HPO 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 ORPHA:500 HPO 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 OMIM:218600 HPO 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 ORPHA:904 HPO 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 ORPHA:2311 HPO 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 OMIM:618060 HPO NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ORPHA:1452 HPO 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 ORPHA:233 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO 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 ORPHA:79500 HPO 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 ORPHA:904 HPO 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 ORPHA:1797 HPO NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TBXT T-box transcription factor T IAGP OMIM:182940 HPO NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO 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 ORPHA:230839 HPO NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP OMIM:182940 HPO 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 OMIM:182940 HPO NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO 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 OMIM:619227 HPO 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 OMIM:618736 HPO 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 ORPHA:1114 HPO NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO 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 ORPHA:1114 HPO 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 OMIM:617660 HPO 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 ORPHA:1114 HPO 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 OMIM:603546 HPO NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO 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 OMIM:601634 HPO NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP OMIM:601634 HPO 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 OMIM:601634 HPO 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 OMIM:601634 HPO 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 OMIM:612918 HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLEC plectin IAGP ORPHA:1114 HPO 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 ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP ORPHA:1114 HPO 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 15292
    Phenotypic abnormality 15290
      Abnormality of the nervous system 10551
        Abnormal nervous system morphology 4209
          Morphological central nervous system abnormality 4062
            Abnormal neural tube morphology 330
              Neural tube defect + 330
paths to the root