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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 5
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Accession:DOID:0110878 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)
Synonyms:exact_synonym: HPE5;   ZIC2-RELATED CONDITION
 primary_id: MESH:C566464
 alt_id: OMIM:609637

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holoprosencephaly 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:1,811,686...2,060,221
Ensembl chrNW_004624879:1,811,651...2,060,099 		JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,661,320...8,698,081
Ensembl chrNW_004624793:8,662,713...8,692,575 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:2,178,896...2,298,905
Ensembl chrNW_004624879:2,179,142...2,298,924 		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 chrNW_004624793:11,240,495...11,479,386
Ensembl chrNW_004624793:11,237,097...11,480,113 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:1,241,593...1,346,765
Ensembl chrNW_004624879:1,241,910...1,279,444 		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 chrNW_004624879:2,369,332...2,434,433
Ensembl chrNW_004624879:2,369,237...2,434,433 		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 chrNW_004624879:2,301,172...2,355,665
Ensembl chrNW_004624879:2,303,685...2,354,319 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		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 chrNW_004624793:12,595,521...12,870,803
Ensembl chrNW_004624793:12,592,574...12,796,155 		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 chrNW_004624793:9,021,538...9,641,651
Ensembl chrNW_004624793:9,021,579...9,638,740 		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 chrNW_004624793:10,655,447...10,691,334
Ensembl chrNW_004624793:10,677,662...10,690,034 		JBrowse link
G Gpc5 glypican 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624779:982,178...1,712,772
Ensembl chrNW_004624779:982,179...1,659,418 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:97,125...1,196,747
Ensembl chrNW_004624879:97,257...1,192,604 		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 chrNW_004624793:11,781,250...11,785,952 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 chrNW_004624879:1,388,033...1,412,727
Ensembl chrNW_004624879:1,387,867...1,410,767 		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 chrNW_004624879:2,678,403...3,408,630
Ensembl chrNW_004624879:2,678,482...3,402,590 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624793:12,971,397...13,004,126
Ensembl chrNW_004624793:12,969,459...13,004,139 		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 chrNW_004624793:9,645,076...9,878,788
Ensembl chrNW_004624793:9,645,861...9,878,634 		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 chrNW_004624879:3,768,073...3,921,251
Ensembl chrNW_004624879:3,768,084...3,922,407 		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 chrNW_004624793:8,772,999...8,782,049
Ensembl chrNW_004624793:8,774,561...8,780,792 		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 chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563 		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 chrNW_004624879:3,540,737...3,548,239
Ensembl chrNW_004624879:3,540,845...3,548,239 		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 chrNW_004624793:10,691,224...11,099,905
Ensembl chrNW_004624793:10,691,224...11,100,853 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,698,481...8,711,151
Ensembl chrNW_004624793:8,698,617...8,711,241 		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 chrNW_004624879:3,972,582...4,015,335 JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,452,536...8,468,835
Ensembl chrNW_004624793:8,452,727...8,468,661 		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 chrNW_004624793:12,348,356...12,393,909
Ensembl chrNW_004624793:12,348,819...12,394,497 		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 chrNW_004624879:1,480,436...1,483,000
Ensembl chrNW_004624879:1,482,081...1,482,911 		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 chrNW_004624793:12,474,346...12,595,052
Ensembl chrNW_004624793:12,474,373...12,595,062 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,721,772...8,728,298
Ensembl chrNW_004624793:8,721,762...8,728,505 		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 chrNW_004624879:1,365,464...1,384,726
Ensembl chrNW_004624879:1,366,151...1,384,601 		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 chrNW_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008 		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 chrNW_004624793:10,587,703...10,640,634
Ensembl chrNW_004624793:10,588,037...10,641,260 		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 chrNW_004624793:8,782,956...8,848,547
Ensembl chrNW_004624793:8,779,967...8,848,539 		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 chrNW_004624793:11,658,268...11,824,632
Ensembl chrNW_004624793:11,657,526...11,824,570 		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 chrNW_004624879:2,449,128...2,642,884
Ensembl chrNW_004624879:2,450,316...2,642,954 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: ZIC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:9771712 PMID:11285244 PMID:15590697 PMID:17274816 More... NCBI chrNW_004624793:11,162,835...11,167,497
Ensembl chrNW_004624793:11,163,916...11,167,457 		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 chrNW_004624793:11,171,431...11,186,415
Ensembl chrNW_004624793:11,176,946...11,189,003 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    syndrome 9252
      holoprosencephaly 182
        holoprosencephaly 5 38
Path 2
Term Annotations click to browse term
  disease 15960
    Developmental Disease 15901
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15853
        Congenital Abnormalities 6891
          Nervous System Malformations 2230
            Agenesis of Corpus Callosum 326
              holoprosencephaly 182
                holoprosencephaly 5 38
paths to the root