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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:Recombinant Chromosome 8 Syndrome
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Accession:DOID:9003884 term browser browse the term
Synonyms:exact_synonym: CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION;   REC8 SYNDROME;   Rec(8) Syndrome;   Recombinant 8 Syndrome;   San Luis Valley recombinant chromosome 8 syndrome;   San Luis Valley syndrome
 primary_id: MESH:C535296
 alt_id: MIM:179613


show annotations for term's descendants           Sort by:
Recombinant Chromosome 8 Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436 		JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902 		JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,939,480...70,985,745
Ensembl chr16:70,943,135...70,985,560 		JBrowse link
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Arc activity-regulated cytoskeleton-associated protein ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378 		JBrowse link
G Arhgap39 Rho GTPase activating protein 39 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,446,280...108,538,875
Ensembl chr 7:108,446,282...108,538,831 		JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931 		JBrowse link
G C7h8orf33 similar to human chromosome 8 open reading frame 33 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,682,122...108,684,372
Ensembl chr 7:108,682,176...108,684,358 		JBrowse link
G C7h8orf82 similar to human chromosome 8 open reading frame 82 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,443,772...108,446,116
Ensembl chr 7:108,443,782...108,446,121 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375 		JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774 		JBrowse link
G Commd5 COMM domain containing 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,621,766...108,623,616
Ensembl chr 7:108,598,673...108,624,764 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934 		JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614 		JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Defa3 defensin alpha 3 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,533,436...70,535,592
Ensembl chr16:70,533,436...70,535,604 		JBrowse link
G Defa5 defensin alpha 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836 		JBrowse link
G Defb1 defensin beta 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Defb105a defensin beta 105A ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,136,218...70,138,645
Ensembl chr16:70,725,701...70,728,143
Ensembl chr16:70,725,701...70,728,143 		JBrowse link
G Defb105b defensin beta 105B ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,725,687...70,728,859
Ensembl chr16:70,725,701...70,728,143
Ensembl chr16:70,725,701...70,728,143 		JBrowse link
G Defb13 defensin beta 13 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,129,400...70,131,509
Ensembl chr16:70,129,625...70,131,473 		JBrowse link
G Defb14 defensin beta 14 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,663,443...70,668,473
Ensembl chr16:70,663,333...70,666,540 		JBrowse link
G Defb15 defensin beta 15 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,141,193...70,143,891
Ensembl chr16:70,141,193...70,143,834 		JBrowse link
G Defb34 defensin beta 34 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,720,200...70,723,134
Ensembl chr16:70,720,500...70,723,098 		JBrowse link
G Defb42 defensin beta 42 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr15:37,234,662...37,241,621
Ensembl chr15:37,234,751...37,235,637 		JBrowse link
G Defb5 defensin beta 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Dlgap2 DLG associated protein 2 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:74,786,771...75,496,402
Ensembl chr16:74,791,509...75,496,407 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Erich1 glutamate-rich 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:75,501,322...75,569,129
Ensembl chr16:75,501,384...75,569,128 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Fbxo25 F-box protein 25 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:75,666,062...75,701,770
Ensembl chr16:75,667,904...75,701,696 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Iqank1 IQ motif and ankyrin repeat containing 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,724,962...107,759,163
Ensembl chr 7:107,724,997...107,759,162 		JBrowse link
G Jrk Jrk helix-turn-helix protein ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,590,662...106,595,345
Ensembl chr 7:106,589,484...106,596,371 		JBrowse link
G Kbtbd11 kelch repeat and BTB domain containing 11 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:74,618,291...74,638,010
Ensembl chr16:74,615,792...74,637,736 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484 		JBrowse link
G Lrrc14 leucine rich repeat containing 14 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,430,755...108,437,118
Ensembl chr 7:108,430,792...108,437,111 		JBrowse link
G Lrrc24 leucine rich repeat containing 24 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,437,296...108,444,561
Ensembl chr 7:108,437,296...108,444,438 		JBrowse link
G Ly6al1 lymphocyte antigen 6 complex, locus A like 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,011,585...107,018,125
Ensembl chr 7:107,011,623...107,015,179 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,258,779...107,261,270
Ensembl chr 7:107,258,779...107,261,454 		JBrowse link
G Ly6k lymphocyte antigen 6 family member K ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,683,749...106,712,802
Ensembl chr 7:106,683,753...106,686,372 		JBrowse link
G Ly6l lymphocyte antigen 6 family member L ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,220,612...107,222,692
Ensembl chr 7:107,141,903...107,143,843 		JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173 		JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:74,520,148...74,592,658
Ensembl chr16:74,520,157...74,592,772 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102 		JBrowse link
G Np4 defensin NP-4 precursor ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,494,607...70,497,261
Ensembl chr16:70,342,529...70,497,202 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Or4f7c olfactory receptor family 4 subfamily F member 7C ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 3:98,458,889...98,459,827
Ensembl chr 3:98,457,871...98,464,794 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,391,664...108,414,812
Ensembl chr 7:108,391,656...108,419,509 		JBrowse link
G Psca prostate stem cell antigen ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Rpl8 ribosomal protein L8 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,626,194...108,628,485
Ensembl chr 7:108,622,324...108,628,482
Ensembl chr 3:108,622,324...108,628,482 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365 		JBrowse link
G Slurp2 secreted Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,627,775...106,631,655
Ensembl chr 7:106,627,775...106,631,655 		JBrowse link
G Spag11b sperm associated antigen 11B ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,697,810...70,700,336
Ensembl chr16:70,698,127...70,700,110 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479 		JBrowse link
G Tdrp testis development related protein ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:75,624,047...75,652,635
Ensembl chr16:75,624,907...75,652,420 		JBrowse link
G Them6 thioesterase superfamily member 6 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,606,570...106,609,747
Ensembl chr 7:106,606,570...106,609,746 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Tmem276 Transmembrane protein 276 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,378,569...108,380,453
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Tsnare1 t-SNARE domain containing 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:106,226,056...106,407,308 JBrowse link
G Usp17l8 ubiquitin specific peptidase 17 like family member 8 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 1:159,173,249...159,182,920 JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837 		JBrowse link
G Wdr97 WD repeat domain 97 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,078,280...108,087,028
Ensembl chr 7:108,078,337...108,087,034 		JBrowse link
G Xkr5 XK related 5 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr16:70,874,983...70,892,972
Ensembl chr16:70,875,093...70,892,967 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp251 zinc finger protein 251 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,568,564...108,598,593
Ensembl chr 7:108,568,597...108,598,623 		JBrowse link
G Zfp34 zinc finger protein 34 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 5:157,509,762...157,513,970
Ensembl chr 5:157,509,451...157,599,926 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,627,334...107,636,254
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp647 zinc finger protein 647 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,632,248...108,649,264
Ensembl chr 7:108,632,250...108,637,433 		JBrowse link
G Zfp7 zinc finger protein 7 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,598,666...108,615,740
Ensembl chr 7:108,607,689...108,618,185 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459 		JBrowse link
G Zfp707l1 zinc finger protein 707-like 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:107,650,517...107,661,335
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: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
G Znf16l-ps1 Zinc finger protein 16 like, pseudogene 1 ISO ClinVar Annotator: match by term: Recombinant 8 syndrome ClinVar PMID:31690835 NCBI chr 7:108,650,889...108,670,242 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Recombinant Chromosome 8 Syndrome 118
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          chromosomal disease 3182
            Recombinant Chromosome 8 Syndrome 118
paths to the root