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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:basal cell carcinoma
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Accession:DOID:2513 term browser browse the term
Definition:A skin carcinoma affecting basal cells. (DO)
Synonyms:exact_synonym: Basal Cell Cancer;   Basal Cell Epitheliomas;   Basal cell tumor;   basal cell cancers;   basal cell carcinoma of skin;   basal cell carcinomas;   basal cell epithelioma;   malignant basal cell neoplasm;   malignant basal cell tumor;   rodent ulcer;   rodent ulcers
 narrow_synonym: BASAL CELL CARCINOMA, SOMATIC;   BASAL CELL CARCINOMA, SPORADIC
 broad_synonym: PTCH2-RELATED CONDITION
 related_synonym: BCC1;   BCC2;   BCC3;   BCC4;   BCC5;   BCC6;   BCC7;   basal cell carcinoma, susceptibility to, 1;   basal cell carcinoma, susceptibility to, 2;   basal cell carcinoma, susceptibility to, 3;   basal cell carcinoma, susceptibility to, 4;   basal cell carcinoma, susceptibility to, 5;   basal cell carcinoma, susceptibility to, 6;   basal cell carcinoma, susceptibility to, 7
 primary_id: MESH:D002280
 alt_id: MIM:605462;   MIM:613058;   MIM:613059;   MIM:613061;   MIM:613062;   MIM:613063;   MIM:614740
 xref: EFO:0004193;   ICDO:8090/3;   NCI:C134570;   NCI:C156767;   NCI:C2921;   NCI:C3784;   NCI:C7586
For additional species annotation, visit the Alliance of Genome Resources.


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basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi3bp ABI family member 3 binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:43,912,187...44,128,888
Ensembl chr11:43,913,043...44,128,929 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Adam23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:64,862,649...65,009,718
Ensembl chr 9:64,862,878...65,006,515 		JBrowse link
G Alcam activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:48,336,123...48,536,296
Ensembl chr11:48,336,169...48,537,954 		JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:105,871,424...105,875,076
Ensembl chr10:105,871,306...105,875,069 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Atf2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Atp5pb ATP synthase peripheral stalk-membrane subunit b ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:193,424,138...193,435,418
Ensembl chr 2:193,424,047...193,435,418 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Basp1 brain abundant, membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:75,816,130...75,863,801
Ensembl chr 2:75,816,122...75,864,043 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426 		JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G C1qtnf1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:103,660,319...103,681,662
Ensembl chr10:103,660,327...103,681,660 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:52,507,987...52,532,880
Ensembl chr 2:52,507,981...52,532,826 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar PMID:8275088 PMID:18446851 PMID:24038909 PMID:24274751 PMID:25741868 More... NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:16,957,127...16,961,682
Ensembl chr 5:16,957,188...16,961,184 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Chga chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398 		JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Coa3 cytochrome C oxidase assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178 		JBrowse link
G Coa7 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199 		JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Dclre1a DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:255,569,911...255,589,815
Ensembl chr 1:255,569,919...255,589,678 		JBrowse link
G Dcp1b decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145 		JBrowse link
G Dhx15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:58,787,147...58,825,083
Ensembl chr14:58,787,127...58,825,088 		JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809 		JBrowse link
G Dsc2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Elk3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:27,768,582...27,831,088
Ensembl chr 7:27,768,599...27,804,084 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Fam234a family with sequence similarity 234, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488 		JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:75,221,149...75,244,377
Ensembl chr13:75,224,402...75,244,308 		JBrowse link
G Fnbp1l formin binding protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:210,647,241...210,748,203
Ensembl chr 2:210,647,246...210,738,455 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gpx8 glutathione peroxidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:44,676,448...44,680,042
Ensembl chr 2:44,676,454...44,680,195 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Hhip Hedgehog-interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528 		JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129 		JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Irx1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:31,294,615...31,300,444
Ensembl chr 1:31,294,615...31,300,444 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:51,087,059...51,221,882
Ensembl chr 7:51,088,239...51,222,446 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lrig3 leucine-rich repeats and immunoglobulin-like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:61,816,313...61,866,275
Ensembl chr 7:61,816,342...61,866,481 		JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:87,025,671...87,060,313
Ensembl chr 2:87,025,598...87,060,294 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349 		JBrowse link
G Marcksl1 MARCKS-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:141,851,491...141,853,814
Ensembl chr 5:141,850,110...141,853,817 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:38,675,776...38,959,697
Ensembl chr13:38,676,119...38,959,513 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:114,932,221...115,011,797
Ensembl chr 7:114,944,764...115,011,787 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655 		JBrowse link
G Nudcd1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:75,550,650...75,595,976
Ensembl chr 7:75,550,346...75,595,900 		JBrowse link
G Nxn nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:61,109,322...61,247,578
Ensembl chr10:61,110,020...61,248,251 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)		 RGD PMID:21270109 PMID:19384953 RGD:9491840, RGD:9491841 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579 PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Oscp1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:138,334,552...138,365,220
Ensembl chr 5:138,333,893...138,366,822 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Palm paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555 		JBrowse link
G Peli2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:21,393,262...21,537,737
Ensembl chr15:21,393,262...21,535,106 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647 		JBrowse link
G Pnma1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:103,773,889...103,784,567 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113 		JBrowse link
G Procr protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903 		JBrowse link
G Ptch1 patched 1 disease_progression ISO
ISS		 mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 More... RGD:12801453 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
G Rac3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:106,002,808...106,005,243
Ensembl chr10:105,993,087...106,005,260 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8275088 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 More... RGD:737716 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743 		JBrowse link
G Rgcc regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:54,662,483...54,675,320
Ensembl chr15:54,662,483...54,681,141 		JBrowse link
G Rock1 Rho-associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Sh3bp4 SH3-domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:89,660,156...89,739,163
Ensembl chr 9:89,660,156...89,739,163 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Shox2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
G Smo smoothened, frizzled class receptor disease_progression ISO DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9422511 PMID:9581815 PMID:19726788 PMID:22679179 PMID:25741868 More... RGD:704355, RGD:12801453 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Snora75 small nucleolar RNA, H/ACA box 75 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:87,000,248...87,000,384
Ensembl chr 9:87,000,248...87,000,384 		JBrowse link
G Sobp sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541 		JBrowse link
G Sox18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
G Spon2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:149,605,005...149,625,069
Ensembl chr 2:149,605,005...149,625,132 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Stmn1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Synj1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgs1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:16,524,864...16,558,399
Ensembl chr 5:16,524,874...16,558,399 		JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:141,456,950...141,466,146
Ensembl chr 2:141,453,310...141,466,146 		JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:76,217,146...76,254,309
Ensembl chr16:76,217,201...76,254,107 		JBrowse link
G Tmem104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:100,427,244...100,485,890
Ensembl chr10:100,427,307...100,483,354 		JBrowse link
G Tmem170a transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783 		JBrowse link
G Tmem176b transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:77,766,928...77,774,740
Ensembl chr 4:77,766,928...77,774,384 		JBrowse link
G Tmem19 transmembrane protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:50,958,884...50,985,601
Ensembl chr 7:50,958,888...50,986,809 		JBrowse link
G Tmem217 transmembrane protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:7,584,177...7,619,023
Ensembl chr20:7,592,627...7,619,111
Ensembl chr20:7,592,627...7,619,111 		JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... RGD:8547844, RGD:8547848 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tril TLR4 interactor with leucine-rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:82,922,327...82,927,172
Ensembl chr 4:82,922,328...82,927,172 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Ubac2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787 		JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:2,666,983...2,962,276
Ensembl chr 1:2,669,592...2,962,044 		JBrowse link
G Vash2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:102,529,718...102,561,204
Ensembl chr13:102,529,719...102,560,391 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637 		JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin		 RGD PMID:22213323 PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762 		JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Ptch1 patched 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple		 CTD
ClinVar
MouseDO
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS		 MouseDO
RGD		 PMID:9115210 RGD:12802345 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO		 OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 MouseDO
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Basal cell nevus syndrome 1		 ClinVar
OMIM
RGD		 PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... RGD:407424595 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
Term paths to the root
Path 1
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  disease 19100
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        Glandular and Epithelial Neoplasms 3809
          Basal Cell Neoplasms 164
            basal cell carcinoma 160
              Basal Cell Carcinoma, Nonsyndromic 0
              Bazex-Dupre-Christol Syndrome 0
              Multiple Basal Cell Carcinoma 5
              Rombo Syndrome 0
              adamantinoid basal cell epithelioma 0
              adenoid basal cell carcinoma 0
              anal margin basal cell carcinoma 0
              basaloid squamous cell carcinoma + 1
              basosquamous carcinoma 0
              clear cell basal cell carcinoma 0
              external ear basal cell carcinoma 0
              fibroepithelial basal cell carcinoma 0
              follicular basal cell carcinoma 0
              infiltrative basal cell carcinoma 0
              infundibulocystic basal cell carcinoma 0
              metatypical basal cell carcinoma 0
              micronodular basal cell carcinoma 0
              morpheaform basal cell carcinoma 0
              nevoid basal cell carcinoma syndrome + 15
              nodular basal cell carcinoma + 0
              penis basal cell carcinoma 0
              pigmented basal cell carcinoma 0
              sarcomatoid basal cell carcinoma 0
              scrotum basal cell carcinoma 0
              signet ring basal cell carcinoma 0
              skin nasal cell carcinoma with sebaceous differentiation 0
              superficial basal cell carcinoma 0
              vulva basal cell carcinoma 0
Path 2
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  disease 19100
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11183
        Neurologic Manifestations 10419
          sensory system disease 7329
            skin disease 4309
              Skin Neoplasms 504
                skin cancer 270
                  skin carcinoma 174
                    basal cell carcinoma 160
                      Basal Cell Carcinoma, Nonsyndromic 0
                      Bazex-Dupre-Christol Syndrome 0
                      Multiple Basal Cell Carcinoma 5
                      Rombo Syndrome 0
                      adamantinoid basal cell epithelioma 0
                      adenoid basal cell carcinoma 0
                      anal margin basal cell carcinoma 0
                      basaloid squamous cell carcinoma + 1
                      basosquamous carcinoma 0
                      clear cell basal cell carcinoma 0
                      external ear basal cell carcinoma 0
                      fibroepithelial basal cell carcinoma 0
                      follicular basal cell carcinoma 0
                      infiltrative basal cell carcinoma 0
                      infundibulocystic basal cell carcinoma 0
                      metatypical basal cell carcinoma 0
                      micronodular basal cell carcinoma 0
                      morpheaform basal cell carcinoma 0
                      nevoid basal cell carcinoma syndrome + 15
                      nodular basal cell carcinoma + 0
                      penis basal cell carcinoma 0
                      pigmented basal cell carcinoma 0
                      sarcomatoid basal cell carcinoma 0
                      scrotum basal cell carcinoma 0
                      signet ring basal cell carcinoma 0
                      skin nasal cell carcinoma with sebaceous differentiation 0
                      superficial basal cell carcinoma 0
                      vulva basal cell carcinoma 0
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