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
Accession: DOID:2513
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: OMIM:605462 ; OMIM:613058 ; OMIM:613059 ; OMIM:613061 ; OMIM:613062 ; OMIM:613063 ; OMIM:614740
xref: EFO:0004193 ; NCI:C134570 ; NCI:C156767 ; NCI:C2921 ; NCI:C3784 ; NCI:C7586
For additional species annotation, visit the
Alliance of Genome Resources .
GViewer not supported for the selected species.
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027
NCBI chrNW_004936561:6,341,667...6,346,440
Ensembl chrNW_004936561:6,341,623...6,346,458
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Bap1
BRCA1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25080371 PMID:26719535
RGD:9586038
NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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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 PMID:28492532 PMID:29891884 More...
NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460
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Clptm1l
CLPTM1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chrNW_004936815:421,996...445,577
Ensembl chrNW_004936815:428,920...445,750
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Crnkl1
crooked neck pre-mRNA splicing factor 1
ISO
DNA:missense mutation:cds:p.S128F (human)
RGD
PMID:23774526
RGD:9850250
NCBI chrNW_004936485:328,077...351,323
Ensembl chrNW_004936485:327,835...350,132
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Ctcf
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chrNW_004936475:17,987,137...18,031,733
Ensembl chrNW_004936475:17,987,156...18,031,760
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Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNP: :rs3087243(human)
RGD
PMID:19622768
RGD:7411686
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764
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Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10700170
NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
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Hhip
hedgehog interacting protein
treatment
ISO
mRNA:increased expression:skin:
RGD
PMID:15024045
RGD:11552592
NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22108589
NCBI chrNW_004936549:7,015,595...7,016,246
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363 PMID:20871598
NCBI chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
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Lats1
large tumor suppressor kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936489:2,607,114...2,649,879
Ensembl chrNW_004936489:2,605,195...2,649,879
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Mc1r
melanocortin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539553
NCBI chrNW_004936641:193,885...198,730
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
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Oca2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:missense mutation:cds:p.R419Q (rs1800407) (human) DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
RGD
PMID:19384953 PMID:21270109
RGD:9491840 RGD:9491841
NCBI chrNW_004936471:38,612,450...38,952,150
Ensembl chrNW_004936471:38,612,427...38,952,199
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Ogg1
8-oxoguanine DNA glycosylase
no_association
ISO
DNA:missense mutation: :p.S326C (rs1052133)(human)
RGD
PMID:15466987 PMID:22436579
RGD:8657137 RGD:8657158
NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
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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 PMID:25741868 PMID:27878467 PMID:28135048 PMID:28423363 PMID:28492532 PMID:28779002 PMID:32339256 PMID:32566746 PMID:33471991 More...
NCBI chrNW_004936501:8,246,927...8,273,258
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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Ppp6c
protein phosphatase 6 catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936487:13,284,652...13,320,936
Ensembl chrNW_004936487:13,283,931...13,321,526
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Ptch1
patched 1
disease_progression
ISO
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: Basal cell carcinoma, susceptibility to, 7 | ClinVar Annotator: match by term: PTCH2-related condition
RGD ClinVar OMIM
PMID:8782823 PMID:8840969 PMID:9620294 PMID:10504535 PMID:11231326 PMID:11941477 PMID:15712338 PMID:16301862 PMID:16419085 PMID:16508594 PMID:17096318 PMID:18510667 PMID:22703879 PMID:23951062 PMID:24728327 PMID:24807215 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26580448 PMID:27153395 PMID:28492532 PMID:29205322 PMID:29212164 PMID:29575684 PMID:29654263 PMID:30093976 PMID:30102335 PMID:30411536 PMID:31613886 PMID:31645765 PMID:32409749 PMID:33270637 PMID:33332384 PMID:33674644 More...
RGD:12801453
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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Ptch2
patched 2
ISO
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 ClinVar
PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31945512 More...
NCBI chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
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Ptpn14
protein tyrosine phosphatase non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936628:3,739,223...3,916,157
Ensembl chrNW_004936628:3,739,152...3,907,662
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Rasa1
RAS p21 protein activator 1
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
OMIM ClinVar
PMID:8275088 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 PMID:24274751 PMID:25741868 PMID:28492532 PMID:29891884 More...
NCBI chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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Rpe65
retinoid isomerohydrolase RPE65
ISO
mRNA:increased expression:skin (human)
RGD
PMID:16181461
RGD:9495923
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
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Shh
sonic hedgehog signaling molecule
ISO
DNA, protein:hypermethylation, decreased expression:skin of body
RGD
PMID:23284750
RGD:12801452
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
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Slc45a2
solute carrier family 45 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363
NCBI chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277
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Smo
smoothened, frizzled class receptor
disease_progression
ISO
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
RGD OMIM ClinVar
PMID:9422511 PMID:10504535 PMID:19726788 PMID:22679179 PMID:25741868 PMID:25759020 PMID:28492532 More...
RGD:12801453
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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Stk19
serine/threonine kinase 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936727:1,570,650...1,576,796
Ensembl chrNW_004936727:1,570,678...1,577,026
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
ClinVar OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20436704 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21761402 PMID:21946351 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22706378 PMID:22729912 PMID:22744426 PMID:22800615 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23515929 PMID:23538418 PMID:23571737 PMID:23624782 PMID:23630318 PMID:23742673 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24634504 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25422255 PMID:25516983 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25907361 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26823150 PMID:26845104 PMID:26911350 PMID:27146902 PMID:27147571 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31105275 PMID:31321604 PMID:31742824 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Tyr
tyrosinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027
NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253
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Vdr
vitamin D receptor
ISO
mRNA:increased expression:skin DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
RGD
PMID:15077124 PMID:22213323
RGD:8158063 RGD:8158076
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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Xpa
XPA, DNA damage recognition and repair factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687452
NCBI chrNW_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610
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Xrcc3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16501254
NCBI chrNW_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868
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Xrcc5
X-ray repair cross complementing 5
ISO
protein:increased expression:epidermal cell, basal cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chrNW_004936586:1,055,478...1,137,924
Ensembl chrNW_004936586:1,055,335...1,137,984
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Xrcc6
X-ray repair cross complementing 6
ISO
protein:increased expression:epidermal cell, basal cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chrNW_004936492:303,843...325,812
Ensembl chrNW_004936492:300,057...325,845
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Ptch1
patched 1
ISO
DNA:missense mutations, nonsense mutations
RGD
PMID:25395299
RGD:150523793
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:24038909 PMID:25741868 PMID:28492532
NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976 More...
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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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 chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021
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Smo
smoothened, frizzled class receptor
ISO
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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Aopep
aminopeptidase O (putative)
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chrNW_004936626:3,704,474...3,973,913
Ensembl chrNW_004936626:3,667,123...3,970,433
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Arl3
ADP ribosylation factor like GTPase 3
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
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Fancc
FA complementation group C
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chrNW_004936626:3,980,311...4,147,042
Ensembl chrNW_004936626:3,982,647...4,159,976
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Gli1
GLI family zinc finger 1
ISO
RGD
PMID:15308259
RGD:12801443
NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779
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Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16936257
NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
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LOC101970767
steroid 17-alpha-hydroxylase/17,20 lyase
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713
G
Ptch1
patched 1
ISO
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 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 | ClinVar Annotator: match by term: Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
ClinVar
PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 PMID:8981943 PMID:9096761 PMID:9231911 PMID:9341860 PMID:9415689 PMID:9463336 PMID:9536098 PMID:9620294 PMID:10048928 PMID:10200051 PMID:10564585 PMID:10890722 PMID:11231326 PMID:11387302 PMID:11457640 PMID:11941477 PMID:12192414 PMID:12204003 PMID:12655573 PMID:12879481 PMID:12900905 PMID:12925203 PMID:15042702 PMID:15290653 PMID:15459969 PMID:15545745 PMID:15565302 PMID:15712338 PMID:16088933 PMID:16199547 PMID:16203740 PMID:16231297 PMID:16301862 PMID:16419085 PMID:16508594 PMID:16906569 PMID:16909134 PMID:16929110 PMID:16931872 PMID:17001668 PMID:17021131 PMID:17096318 PMID:17328283 PMID:17349603 PMID:17576681 PMID:17703323 PMID:17924555 PMID:18302678 PMID:18373848 PMID:18477452 PMID:18502968 PMID:18510667 PMID:18830227 PMID:19002359 PMID:19346217 PMID:19362041 PMID:19521425 PMID:19557015 PMID:19618880 PMID:20068110 PMID:20301330 PMID:20485063 PMID:20690502 PMID:21188540 PMID:21368767 PMID:21490102 PMID:21514272 PMID:21520333 PMID:21567912 PMID:22193408 PMID:22221699 PMID:22313357 PMID:22382802 PMID:22434048 PMID:22572734 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22829011 PMID:22844361 PMID:22952776 PMID:22995991 PMID:23061468 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24335643 PMID:24368541 PMID:24369017 PMID:24529220 PMID:24651015 PMID:24668667 PMID:24728327 PMID:24807215 PMID:24814739 PMID:24816767 PMID:24942795 PMID:25117323 PMID:25131638 PMID:25260786 PMID:25326635 PMID:25326637 PMID:25403219 PMID:25525159 PMID:25567908 PMID:25637381 PMID:25640679 PMID:25727044 PMID:25741868 PMID:25938944 PMID:26356331 PMID:26467025 PMID:26489027 PMID:26544948 PMID:26559152 PMID:26580448 PMID:26604511 PMID:26802149 PMID:26893459 PMID:26997948 PMID:27028851 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27793025 PMID:27930734 PMID:27993330 PMID:28252636 PMID:28342698 PMID:28492532 PMID:28495808 PMID:28596197 PMID:28627087 PMID:28690523 PMID:28733979 PMID:28873162 PMID:29146900 PMID:29205322 PMID:29212164 PMID:29230040 PMID:29277811 PMID:29381605 PMID:29446198 PMID:29498494 PMID:29575684 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29983323 PMID:29992659 PMID:30032850 PMID:30093976 PMID:30102335 PMID:30256826 PMID:30262796 PMID:30368514 PMID:30411536 PMID:30584090 PMID:30666157 PMID:30754660 PMID:30762128 PMID:30936464 PMID:30997576 PMID:31127104 PMID:31180159 PMID:31437519 PMID:31548691 PMID:31613886 PMID:31639285 PMID:31644632 PMID:31645765 PMID:31655866 PMID:31837199 PMID:31911633 PMID:32074614 PMID:32238911 PMID:32251017 PMID:32311334 PMID:32321774 PMID:32409749 PMID:32741058 PMID:32906206 PMID:33077954 PMID:33179747 PMID:33209614 PMID:33270637 PMID:33332384 PMID:33418956 PMID:33441926 PMID:33466296 PMID:33609447 PMID:33674644 PMID:33729574 PMID:33807452 PMID:34008892 PMID:34194672 PMID:34426522 PMID:34831015 PMID:35170016 PMID:35181726 PMID:35437209 PMID:36693175 More...
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
G
Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 PMID:25260786 PMID:25741868 PMID:28492532 PMID:28915250 PMID:31945512 PMID:32864857 PMID:33077954 More...
NCBI chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
G
Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24803734
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
G
Sfxn2
sideroflexin 2
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chrNW_004936600:3,173,472...3,190,041
Ensembl chrNW_004936600:3,173,336...3,188,649
G
Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:9115210
RGD:12802345
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
G
Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:15308259
RGD:12801443
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
G
Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:23265383 PMID:23826113 PMID:24651015 PMID:24728327 PMID:25287320 PMID:25403219 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26677030 PMID:27363716 PMID:27793025 PMID:27930734 PMID:28050010 PMID:28492532 PMID:28717660 PMID:28873162 PMID:28965847 PMID:29186568 PMID:29356994 PMID:29489754 PMID:29641532 PMID:29654263 PMID:29753700 PMID:30256826 PMID:31639285 PMID:32278351 PMID:32295625 PMID:33024317 PMID:34056767 PMID:34589056 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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 chrNW_004936600:3,244,888...3,259,042
Ensembl chrNW_004936600:3,244,405...3,259,218
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 chrNW_004936600:3,111,377...3,125,244
G
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Basal cell nevus syndrome 1
OMIM ClinVar
PMID:20301330 PMID:25741868
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
G
Sufu
SUFU negative regulator of hedgehog signaling
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 PMID:25403219 PMID:25741868 PMID:28492532 PMID:29186568 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all