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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:holoprosencephaly
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Accession:DOID:4621 term browser browse the term
Definition:A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (DO)
Synonyms:exact_synonym: Arhinencephaly;   DeMyer sequence;   HPE, familial;   HPEC;   Holoprosencephalies;   Holoprosencephaly, Familial Alobar;   alobar holoprosencephalies;   alobar holoprosencephaly;   arhinencephalies;   holoprosencephaly sequence;   lobar holoprosencephalies;   lobar holoprosencephaly;   semilobar holoprosencephalies;   semilobar holoprosencephaly
 narrow_synonym: microform holoprosencephaly
 broad_synonym: HOLOPROSENCEPHALY SPECTRUM DISORDER
 primary_id: MESH:D016142
 xref: GARD:6665;   ICD10CM:Q04.2;   NCI:C74988;   OMIM:PS236100;   ORDO:2162
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436 		JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28677295 NCBI chr11:56,122,697...56,198,060
Ensembl chr11:56,122,750...56,198,059 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder ClinVar PMID:20301702 PMID:26728615 PMID:28492532 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695 		JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308 		JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly ClinVar PMID:25741868 PMID:28492532 PMID:28640243 NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly ClinVar PMID:20463092 PMID:22399515 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly ClinVar PMID:17154279 PMID:17530415 PMID:18034870 PMID:23812909 PMID:25741868 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:18538293 PMID:25741868 PMID:28492532 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gas1 growth arrest-specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr17:4,482,168...4,485,153 JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:27585885 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907 		JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,683,749...106,712,802
Ensembl chr 7:106,689,410...106,712,724 		JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,962,194...107,965,372
Ensembl chr 7:107,962,207...107,965,366 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,542,489...107,547,051
Ensembl chr 7:107,542,083...107,547,055 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 PMID:31680349 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,643,225...106,644,733
Ensembl chr 7:106,643,232...106,644,733 		JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,935,530...106,939,689
Ensembl chr 7:106,935,761...106,939,689 		JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,258,779...107,261,270
Ensembl chr 7:107,258,779...107,261,454 		JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,632,800...106,638,003
Ensembl chr 7:106,632,797...106,638,023 		JBrowse link
G Lypd2 Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,617,561...106,619,598
Ensembl chr 7:106,617,561...106,619,598 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25558065 NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461 		JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102 		JBrowse link
G Nodal nodal growth differentiation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence		 CTD
ClinVar		 PMID:19064609 PMID:19553149 PMID:22352765 PMID:23264560 PMID:24033266 More... NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837 		JBrowse link
G Nosip nitric oxide synthase interacting protein ISS MouseDO NCBI chr 1:95,543,329...95,559,101
Ensembl chr 1:95,543,360...95,558,650 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,798,642...107,805,225
Ensembl chr 7:107,799,497...107,805,230 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS MouseDO NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISS MouseDO NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Ppp1r16a protein phosphatase 1, regulatory subunit 16A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,391,664...108,414,812
Ensembl chr 7:108,391,656...108,419,509 		JBrowse link
G Ptch1 patched 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Holoprosencephaly sequence		 ClinVar
RGD		 PMID:8302318 PMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 More... RGD:12798567 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,603,543...107,608,831
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:missense mutation:CDS:p.V88D (263A>T) (human)
DNA:missense mutations, non-sense mutation:exon:multiple		 CTD
ClinVar
RGD		 PMID:15107988 PMID:17525797 PMID:23264560 PMID:27585885 PMID:29584859 More... RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10369266 PMID:10369266 PMID:15523651 RGD:1599336, RGD:1599335 NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Microform holoprosencephaly ClinVar PMID:24728327 PMID:27363716 PMID:28492532 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO holoprosencephaly-4, OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly sequence
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16705179 PMID:25741868 PMID:28492532 PMID:10835638 RGD:1599407 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:105,533,116...105,567,460
Ensembl chr 9:105,533,136...105,567,479 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270 		JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,627,334...107,636,254
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly
DNA:insertion,deletion mutations:cds:
DNA:deletion, duplication, frameshift, transition mutations:cds,intron:		 ClinVar
RGD		 PMID:25741868 PMID:18617531 PMID:9771712 PMID:22847929 RGD:11561948, RGD:11561954, RGD:11561949 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25679214 PMID:25741868 PMID:31680349 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
holoprosencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 PMID:28492532 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr17:4,482,168...4,485,153 JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
holoprosencephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO
ISS		 OMIM:614226
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 11		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 More... NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764 		JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571 		JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215 		JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G LOC103689958 olfactory receptor 49-like ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516 		JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900 		JBrowse link
G Or10g9 olfactory receptor family 10 subfamily G member 9 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371 		JBrowse link
G Or10g9b olfactory receptor family 10 subfamily G member 9B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692 		JBrowse link
G Or10s1 olfactory receptor family 10 subfamily S member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068 		JBrowse link
G Or4d5 olfactory receptor family 4 subfamily D member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809 		JBrowse link
G Or6x1 olfactory receptor family 6 subfamily X member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586 		JBrowse link
G Or8a1b olfactory receptor family 8 subfamily A member 1B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746 		JBrowse link
G Or8b12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315 		JBrowse link
G Or8b3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936 		JBrowse link
G Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547 		JBrowse link
G Or8d4 olfactory receptor family 8 subfamily D member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932 		JBrowse link
G Or8g17d olfactory receptor family 8 subfamily G member 17D ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720 		JBrowse link
G Or8g30 olfactory receptor family 8 subfamily G member 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150 		JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112 		JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118 		JBrowse link
Holoprosencephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: CNOT1-Related Disorder | ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28525974 PMID:31006510 PMID:31006513 More... NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
Holoprosencephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked | ClinVar Annotator: match by term: STAG2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
Holoprosencephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plch1 phospholipase C, eta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 14 OMIM
ClinVar		 PMID:33820834 NCBI chr 2:148,148,908...148,363,616
Ensembl chr 2:148,148,921...148,364,097 		JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:34008892 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:28492532 PMID:32796691 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Six3 SIX homeobox 3 ISO
ISS		 OMIM:157170
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 2		 OMIM
MouseDO
CTD
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:15221788 PMID:15523651 More... NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301 		JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnpy1 canopy FGF signaling regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,182,311...7,191,408
Ensembl chr 4:7,136,533...7,189,761 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G En2 engrailed homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,221,096...7,226,943
Ensembl chr 4:7,221,096...7,226,943 		JBrowse link
G Htr5a 5-hydroxytryptamine receptor 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,444,968...7,454,651
Ensembl chr 4:7,444,968...7,454,651 		JBrowse link
G Insig1 insulin induced gene 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952 		JBrowse link
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:5,866,506...5,871,465
Ensembl chr 4:5,866,506...5,871,465 		JBrowse link
G Ncapg2 non-SMC condensin II complex, subunit G2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 6:137,342,449...137,418,083
Ensembl chr 6:137,342,943...137,415,159 		JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709 		JBrowse link
G Paxip1 PAX interacting protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,525,132...7,576,659
Ensembl chr 4:7,525,004...7,576,548 		JBrowse link
G Ptprn2 protein tyrosine phosphatase, receptor type N2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 6:137,439,572...138,191,575
Ensembl chr 6:137,439,540...138,191,575 		JBrowse link
G Rbm33 RNA binding motif protein 33 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,980,807...7,088,334
Ensembl chr 4:6,983,970...7,089,918 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS		 OMIM:142945
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 More... NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Ube3c ubiquitin protein ligase E3C ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011 		JBrowse link
holoprosencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 4		 OMIM
CTD
ClinVar		 PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 More... NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
holoprosencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP binding cassette subfamily C member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283 		JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:96,025,605...96,068,585
Ensembl chr15:96,025,624...96,065,181 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153 		JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455 		JBrowse link
G Gpc5 glypican 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470 		JBrowse link
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559 		JBrowse link
G Hs6st3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733 		JBrowse link
G Mbnl2 muscleblind-like splicing regulator 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:97,385,278...97,542,924
Ensembl chr15:97,385,244...97,542,937 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112 		JBrowse link
G Mir17 microRNA 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir18a microRNA 18a ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860 		JBrowse link
G Mir19a microRNA 19a ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993 		JBrowse link
G Mir19b1 microRNA 19b-1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,181,214...92,181,300
Ensembl chr15:92,181,214...92,181,300 		JBrowse link
G Mir20a microRNA 20a ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168 		JBrowse link
G Mir92a1 microRNA 92a-1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532 		JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138 		JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545 		JBrowse link
G Sox21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,292,429...95,296,024
Ensembl chr15:95,292,265...95,296,091 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049 		JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787 		JBrowse link
G Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806 		JBrowse link
G Zic2 Zic family member 2 ISO
ISS		 OMIM:609637
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 5		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:9771712 PMID:11285244 PMID:15590697 PMID:17274816 More... NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035 		JBrowse link
holoprosencephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7 ClinVar PMID:25741868 NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cerebellar cyst ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1756909 PMID:9536098 PMID:10725236 PMID:14581620 PMID:15994174 More... NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome OMIM
ClinVar		 PMID:15605412 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      holoprosencephaly 214
        Genoa Syndrome 0
        Holoprosencephaly 10 1
        Holoprosencephaly 12 1
        Holoprosencephaly 13 2
        Holoprosencephaly 14 1
        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
        Holoprosencephaly, Recurrent Infections, and Monocytosis 0
        Lambotte Syndrome 0
        Microgastria Limb Reduction Defect 0
        Nonsyndromic Holoprosencephaly 0
        Pseudotrisomy 13 Syndrome 0
        Steinfeld Syndrome 0
        X-linked Microhydranencephaly 0
        agnathia-otocephaly complex 3
        holoprosencephaly 1 5
        holoprosencephaly 11 52
        holoprosencephaly 2 3
        holoprosencephaly 3 15
        holoprosencephaly 4 7
        holoprosencephaly 5 47
        holoprosencephaly 6 0
        holoprosencephaly 7 2
        holoprosencephaly 8 0
        holoprosencephaly 9 2
Path 2
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  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        Congenital Abnormalities 7432
          Nervous System Malformations 2352
            Agenesis of Corpus Callosum 367
              holoprosencephaly 214
                Genoa Syndrome 0
                Holoprosencephaly 10 1
                Holoprosencephaly 12 1
                Holoprosencephaly 13 2
                Holoprosencephaly 14 1
                Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                Holoprosencephaly, Recurrent Infections, and Monocytosis 0
                Lambotte Syndrome 0
                Microgastria Limb Reduction Defect 0
                Nonsyndromic Holoprosencephaly 0
                Pseudotrisomy 13 Syndrome 0
                Steinfeld Syndrome 0
                X-linked Microhydranencephaly 0
                agnathia-otocephaly complex 3
                holoprosencephaly 1 5
                holoprosencephaly 11 52
                holoprosencephaly 2 3
                holoprosencephaly 3 15
                holoprosencephaly 4 7
                holoprosencephaly 5 47
                holoprosencephaly 6 0
                holoprosencephaly 7 2
                holoprosencephaly 8 0
                holoprosencephaly 9 2
paths to the root