|
G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
|
RGD |
PMID:18208974 |
RGD:8695988 |
NCBI chr20:4,152,758...4,155,956
|
|
G |
Aire |
autoimmune regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26168014 |
|
NCBI chr20:10,635,775...10,650,709
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21351258 |
|
NCBI chr 6:137,534,810...137,555,131
|
|
G |
Anxa1 |
annexin A1 |
|
ISO |
|
RGD |
PMID:22782996 |
RGD:7421558 |
NCBI chr 1:227,287,713...227,306,739
|
|
G |
Aqp3 |
aquaporin 3 (Gill blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21401805 |
|
NCBI chr 5:61,035,165...61,040,683
|
|
G |
Asip |
agouti signaling protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18488027 |
|
NCBI chr 3:163,933,768...164,021,377
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18563783 |
|
NCBI chr 9:67,747,109...67,806,699
|
|
G |
Cat |
catalase |
disease_progression treatment |
ISO |
|
RGD |
PMID:1747937 PMID:21517247 |
RGD:9479155, RGD:9479189 |
NCBI chr 3:110,297,340...110,329,526
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
|
RGD |
PMID:9264409 |
RGD:8662813 |
NCBI chr20:7,150,820...7,161,373
|
|
G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21346772 |
|
NCBI chr 1:87,759,631...87,762,303
|
|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9774950 |
|
NCBI chr10:84,157,485...84,159,860
|
|
G |
Csnk2a1 |
casein kinase 2 alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 3:161,170,295...161,217,073
|
|
G |
Csnk2a2 |
casein kinase 2 alpha 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr19:9,562,340...9,602,136
|
|
G |
Csnk2b |
casein kinase 2 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr20:3,704,833...3,709,999
|
|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
protein:increased expression:cytosol: |
RGD |
PMID:11517342 |
RGD:10395257 |
NCBI chr 8:129,517,576...129,544,661
|
|
G |
Cyld |
CYLD lysine 63 deubiquitinase |
susceptibility |
ISO |
familial cylindromatosis, OMIM:132700;DNA:nonsense mutations |
RGD |
PMID:10835629 |
RGD:1601033 |
NCBI chr19:34,487,491...34,547,311
|
|
G |
Ephx1 |
epoxide hydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26295053 |
|
NCBI chr13:95,246,079...95,275,852
|
|
G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19718025 |
|
NCBI chr 9:76,973,386...78,045,633
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17050553 |
|
NCBI chr 1:88,161,342...88,175,102
|
|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19718025 |
|
NCBI chr12:12,333,050...12,504,750
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7586191 |
|
NCBI chr20:36,302,490...36,315,010
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7586191 |
|
NCBI chr15:31,260,390...31,278,222
|
|
G |
Gjb5 |
gap junction protein, beta 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7586191 |
|
NCBI chr 5:139,680,670...139,683,588
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10700170 |
|
NCBI chr13:29,946,882...30,163,589
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26295053 |
|
NCBI chr20:12,856,068...12,873,020
|
|
G |
Gypa |
glycophorin A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17029826 |
|
NCBI chr19:27,450,304...27,465,940
|
|
G |
Hcar2 |
hydroxycarboxylic acid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21655214 |
|
NCBI chr12:32,726,252...32,728,238
|
|
G |
Hgf |
hepatocyte growth factor |
susceptibility |
ISO |
|
RGD |
PMID:10919643 |
RGD:8548621 |
NCBI chr 4:19,628,902...19,700,467
|
|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276359 |
|
NCBI chr 6:98,357,788...98,405,068
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8330346 PMID:8508502 PMID:9766437 PMID:15958052 PMID:18758463 PMID:24898257 PMID:26558449 More...
|
|
NCBI chr 1:205,712,625...205,729,406
|
|
G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24353828 PMID:9135074 |
RGD:8549453 |
NCBI chr 7:24,169,608...24,249,446
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10365914 |
|
NCBI chr 1:130,959,787...131,248,664
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8435107 |
|
NCBI chr 3:136,979,804...136,990,236
|
|
G |
Ivl |
involucrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 2:180,842,307...180,854,646
|
|
G |
Krt1 |
keratin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 7:132,976,618...132,981,844
|
|
G |
Krt10 |
keratin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr10:84,338,695...84,343,279
|
|
G |
Krt17 |
keratin 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26168014 |
|
NCBI chr10:85,679,068...85,683,792
|
|
G |
Loricrin |
loricrin cornified envelope precursor protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 2:177,558,062...177,560,960
|
|
G |
Map2k4 |
mitogen activated protein kinase kinase 4 |
treatment |
ISO |
|
RGD |
PMID:21378167 |
RGD:7495826 |
NCBI chr10:50,842,348...50,947,063
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 3:81,001,529...81,031,165
|
|
G |
Nme2 |
NME/NM23 nucleoside diphosphate kinase 2 |
|
ISO |
protein:increased expression:tumor (mouse) |
RGD |
PMID:14623877 |
RGD:5132889 |
NCBI chr10:79,394,999...79,400,418
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr 3:29,676,040...29,721,613
|
|
G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr 2:185,610,594...185,744,088
|
|
G |
Notch3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr 7:11,132,984...11,184,025
|
|
G |
Notch4 |
notch receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr20:4,160,362...4,184,466
|
|
G |
Nppa |
natriuretic peptide A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18004088 |
|
NCBI chr 5:163,712,184...163,713,493
|
|
G |
Nppc |
natriuretic peptide C |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:37352108 |
|
NCBI chr 9:94,767,986...94,772,186
|
|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
|
RGD |
PMID:22832494 |
RGD:9590156 |
NCBI chr17:9,311,963...9,426,373
|
|
G |
Odc1 |
ornithine decarboxylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2591024 PMID:7653998 |
|
NCBI chr 6:46,058,439...46,065,148
|
|
G |
Plcd1 |
phospholipase C, delta 1 |
|
ISO |
|
RGD |
PMID:12805213 |
RGD:1302551 |
NCBI chr 8:118,795,196...118,818,186
|
|
G |
Pot1 |
protection of telomeres 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24686849 |
|
NCBI chr 4:54,205,330...54,263,137
|
|
G |
Ppard |
peroxisome proliferator-activated receptor delta |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:19748995 PMID:21159610 |
|
NCBI chr20:6,300,527...6,365,707
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
|
NCBI chr17:1,548,449...1,613,461
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
|
RGD |
PMID:21771908 |
RGD:127285609 |
NCBI chr 1:240,043,707...240,110,330
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17499752 PMID:19748995 PMID:21159610 |
|
NCBI chr13:64,714,063...64,722,320
|
|
G |
Ptk2b |
protein tyrosine kinase 2 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19718025 |
|
NCBI chr15:44,536,275...44,656,754
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23069812 |
|
NCBI chr 1:212,354,336...212,364,815
|
|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
|
NCBI chr 4:59,311,084...59,341,280
|
|
G |
Sod2 |
superoxide dismutase 2 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:11507057 PMID:20454814 PMID:22009531 PMID:25362851 PMID:12032821 PMID:15130280 PMID:22009531 More...
|
RGD:8547517, RGD:8547532, RGD:8547525 |
NCBI chr 1:50,043,323...50,050,168
|
|
G |
Sp1 |
Sp1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22009531 |
|
NCBI chr 7:135,419,864...135,450,513
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
|
RGD |
PMID:19137019 PMID:18453544 |
RGD:8694289, RGD:8694294 |
NCBI chr10:86,311,528...86,363,513
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8148055 |
|
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358634 |
|
NCBI chr 5:66,449,348...66,506,371
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36499314 |
|
NCBI chr 7:19,408,539...19,459,558
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
DNA:polymorphism,mutations:cds:p.R72P(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12635827 PMID:22009531 PMID:27923803 PMID:21123835 |
RGD:8547834 |
NCBI chr10:54,798,871...54,810,300
|
|
G |
Tyr |
tyrosinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18488027 |
|
NCBI chr 1:150,527,687...150,622,857
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:15150105 |
RGD:7421589 |
NCBI chr 9:22,452,854...22,468,194
|
|
G |
Xpa |
XPA, DNA damage recognition and repair factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10755388 PMID:16962818 |
|
NCBI chr 5:60,431,673...60,475,726
|
|
G |
Xrcc3 |
X-ray repair cross complementing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11059748 PMID:16501254 |
|
NCBI chr 6:136,684,558...136,694,822
|
|
|
G |
Gla |
galactosidase, alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19925601 |
|
NCBI chr X:102,062,497...102,073,915
|
|
G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W |
RGD |
PMID:8040340 |
RGD:1600558 |
NCBI chr 7:113,846,358...113,855,430
|
|
|
G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:91,837,139...91,839,736
|
|
G |
Cd8a |
CD8 subunit alpha |
|
ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 4:104,924,116...104,928,353
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:69,812,859...69,819,959
|
|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
|
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:103,097,356...103,097,925
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:29,390,300...29,405,194
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il21 |
interleukin 21 |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 2:120,117,105...120,127,012
|
|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:38,272,003...38,277,549
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Klrk1 |
killer cell lectin like receptor K1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,079,887...163,092,434
|
|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr16:8,645,171...8,728,225
|
|
G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:127,952,161...127,956,230
|
|
G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:78,657,409...78,665,255
|
|
G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:101,866,124...101,879,278
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:41,026,079...41,085,577
|
|
G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:159,212,320...159,237,069
|
|
G |
Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr10:60,250,198...60,262,593
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:53,554,916...53,572,321
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:85,161,247...85,174,882
|
|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:30,644,324...30,670,796
|
|
G |
Tlr8 |
toll-like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:30,708,714...30,733,104
|
|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:115,743,407...115,747,523
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:171,901,734...171,904,578
|
|
|
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
|
|
G |
Acaa2 |
acetyl-CoA acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr18:68,345,136...68,373,246
|
|
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
|
|
G |
Adam23 |
ADAM metallopeptidase domain 23 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 9:64,862,649...65,009,718
|
|
G |
Alcam |
activated leukocyte cell adhesion molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr11:61,804,932...62,005,250
|
|
G |
Alyref |
Aly/REF export factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:105,871,424...105,875,076
|
|
G |
Arid5b |
AT-rich interaction domain 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr20:20,307,731...20,490,746
|
|
G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr12:14,595,939...14,609,501
|
|
G |
Asip |
agouti signaling protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18488027 |
|
NCBI chr 3:163,933,768...164,021,377
|
|
G |
Atf2 |
activating transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 3:79,125,814...79,202,896
|
|
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
|
|
G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26719535 PMID:25080371 |
RGD:9586038 |
NCBI chr16:6,453,126...6,461,952
|
|
G |
Basp1 |
brain abundant, membrane attached signal protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 2:77,546,628...77,594,297
|
|
G |
Bnc2 |
basonuclin zinc finger protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:103,724,934...104,061,890
|
|
G |
C1qa |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:154,417,086...154,419,933
|
|
G |
C1qtnf1 |
C1q and TNF related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:103,660,319...103,681,662
|
|
G |
Cav1 |
caveolin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 4:46,606,538...46,639,616
|
|
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
|
|
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 Annotator: match by term: RASA1-related condition |
ClinVar |
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 PMID:24038909 PMID:24274751 PMID:25040287 PMID:25741868 PMID:27081547 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:36980822 More...
|
|
NCBI chr 2:17,570,449...17,591,078
|
|
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
|
|
G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:54,562,437...54,588,842
|
|
G |
Chga |
chromogranin A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 6:121,696,051...121,707,399
|
|
G |
Clptm1l |
CLPTM1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19151717 |
|
NCBI chr 1:29,667,545...29,683,530
|
|
G |
Coa3 |
cytochrome C oxidase assembly factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:86,720,454...86,721,435
|
|
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
|
|
G |
Creb5 |
cAMP responsive element binding protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 4:83,723,587...84,124,786
|
|
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
|
|
G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 8:57,264,962...57,300,010
|
|
G |
Ctcf |
CCCTC-binding factor |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:27974201 |
RGD:151356739 |
NCBI chr19:50,431,478...50,481,013
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs3087243(human) |
RGD |
PMID:19622768 |
RGD:7411686 |
NCBI chr 9:69,812,859...69,819,959
|
|
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
|
|
G |
Dcp1b |
decapping mRNA 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 4:152,358,267...152,395,747
|
|
G |
Dhx15 |
DEAH-box helicase 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr14:58,787,147...58,825,083
|
|
G |
Dio2 |
iodothyronine deiodinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 6:115,396,308...115,410,594
|
|
G |
Dsc2 |
desmocollin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr18:11,725,466...11,757,591
|
|
G |
Dusp10 |
dual specificity phosphatase 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr13:98,145,317...98,183,304
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr17:22,660,799...22,666,687
|
|
G |
Elk3 |
ETS transcription factor ELK3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:29,655,676...29,718,163
|
|
G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr10:83,907,491...83,931,365
|
|
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
|
|
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
|
|
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
|
|
G |
Fmo2 |
flavin containing dimethylaniline monoxygenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr13:75,221,149...75,244,377
|
|
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
|
|
G |
Fscn1 |
fascin actin-bundling protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr12:16,710,601...16,723,734
|
|
G |
Galnt15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr16:7,227,232...7,267,002
|
|
G |
Gjb6 |
gap junction protein, beta 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr15:31,284,561...31,294,552
|
|
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
|
|
G |
Gpx8 |
glutathione peroxidase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 2:44,676,448...44,680,042
|
|
G |
Grm5 |
glutamate metabotropic receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 1:141,310,069...141,884,980
|
|
G |
Gtf2i |
general transcription factor II I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr12:28,037,344...28,112,677
|
|
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
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr15:31,573,325...31,666,068
|
|
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
|
|
G |
Igf2bp2 |
insulin-like growth factor 2 mRNA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr11:92,378,908...92,478,893
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22108589 |
|
NCBI chr 4:5,889,999...5,894,575
|
|
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
|
|
G |
Irs4 |
insulin receptor substrate 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr X:105,344,020...105,360,004
|
|
G |
Irx1 |
iroquois homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 1:31,294,615...31,300,444
|
|
G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:115,009,900...115,012,993
|
|
G |
Krt17 |
keratin 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20871598 PMID:36428691 |
|
NCBI chr10:85,679,068...85,683,792
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578363 PMID:20871598 |
|
NCBI chr 7:132,846,132...132,851,861
|
|
G |
Lats1 |
large tumor suppressor kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr 1:3,980,801...4,014,029
|
|
G |
Lef1 |
lymphoid enhancer binding factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 2:222,340,541...222,453,931
|
|
G |
Lgr5 |
leucine rich repeat containing G protein coupled receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:52,973,151...53,107,964
|
|
G |
Litaf |
lipopolysaccharide-induced TNF factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:4,656,308...4,692,981
|
|
G |
Lman1 |
lectin, mannose-binding, 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr18:59,508,996...59,530,873
|
|
G |
Lpl |
lipoprotein lipase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr16:25,596,205...25,621,928
|
|
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
|
|
G |
Lrrcc1 |
leucine rich repeat and coiled-coil centrosomal protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 2:88,746,904...88,781,532
|
|
G |
Ltbp1 |
latent transforming growth factor beta binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 6:25,781,625...26,177,346
|
|
G |
Marcksl1 |
MARCKS-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:147,135,827...147,138,150
|
|
G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18539553 |
|
NCBI chr19:68,360,950...68,363,877
|
|
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
|
|
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
|
|
G |
Mmp11 |
matrix metallopeptidase 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr20:12,730,846...12,739,629
|
|
G |
Mpped1 |
metallophosphoesterase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:114,932,221...115,011,797
|
|
G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr 6:41,446,683...41,452,584
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:111,224,291...111,304,963
|
|
G |
Nnmt |
nicotinamide N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 8:48,928,663...48,947,734
|
|
G |
Nudcd1 |
NudC domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:75,550,650...75,595,976
|
|
G |
Nxn |
nucleoredoxin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:61,109,322...61,247,578
|
|
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
|
|
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 4:148,030,237...148,037,599
|
|
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
|
|
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 PMID:25741868 PMID:27878467 PMID:28135048 PMID:28423363 PMID:28492532 PMID:28779002 PMID:32339256 PMID:32566746 PMID:33471991 More...
|
|
NCBI chr 1:176,665,076...176,689,053
|
|
G |
Palm |
paralemmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:9,886,634...9,912,389
|
|
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
|
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr 2:117,103,643...117,177,411
|
|
G |
Plag1 |
PLAG1 zinc finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:16,902,057...16,956,727
|
|
G |
Pnma1 |
PNMA family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 6:103,782,244...103,784,029
|
|
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
|
|
G |
Procr |
protein C receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 3:144,254,596...144,258,863
|
|
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: Basal cell carcinoma, susceptibility to, 7 CTD Direct Evidence: marker/mechanism |
ClinVar CTD MouseDO OMIM RGD |
PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 PMID:11941477 PMID:12925203 PMID:15712338 PMID:16301862 PMID:16419085 PMID:16508594 PMID:17096318 PMID:18510667 PMID:18854826 PMID:22703879 PMID:23951062 PMID:24728327 PMID:24807215 PMID:25326637 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26950094 PMID:27153395 PMID:28492532 PMID:28495808 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 PMID:36428691 PMID:10504535 More...
|
RGD:12801453 |
NCBI chr17:1,548,449...1,613,461
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|
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 PMID:31945512 PMID:36428691 More...
|
|
NCBI chr 5:130,571,956...130,592,506
|
|
G |
Ptpn14 |
protein tyrosine phosphatase, non-receptor type 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr13:103,799,473...103,951,708
|
|
G |
Pycr2 |
pyrroline-5-carboxylate reductase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr13:92,626,462...92,630,256
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr14:69,245,846...69,322,968
|
|
G |
Rac3 |
Rac family small GTPase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:106,002,808...106,005,243
|
|
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 | ClinVar Annotator: match by term: RASA1-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 PMID:24274751 PMID:25040287 PMID:25741868 PMID:27081547 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:36980822 PMID:8275088 More...
|
RGD:737716 |
NCBI chr 2:15,857,704...15,940,757
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr15:54,780,858...54,911,989
|
|
G |
Rbp1 |
retinol binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 8:99,025,218...99,046,740
|
|
G |
Rgcc |
regulator of cell cycle |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr15:54,662,483...54,675,320
|
|
G |
Rock1 |
Rho-associated coiled-coil containing protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr18:1,387,360...1,509,218
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:16181461 |
RGD:9495923 |
NCBI chr 2:251,425,228...251,457,209
|
|
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
|
|
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
|
|
G |
Setbp1 |
SET binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr18:74,465,616...74,827,455
|
|
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
|
|
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
|
|
G |
Shox2 |
SHOX homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 2:153,524,324...153,537,571
|
|
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
|
|
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
|
|
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
|
|
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, somatic mRNA:increased expression:skin of body CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:9422511 PMID:9581815 PMID:25741868 PMID:26950094 PMID:28492532 PMID:9422511 PMID:10504535 More...
|
RGD:704355, RGD:12801453 |
NCBI chr 4:59,311,084...59,341,280
|
|
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
|
|
G |
Sobp |
sine oculis binding protein homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr20:48,064,445...48,243,607
|
|
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
|
|
G |
Sox4 |
SRY-box transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr17:35,876,298...35,881,004
|
|
G |
Spon2 |
spondin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr14:77,505,695...77,518,001
|
|
G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:59,215,007...59,479,600
|
|
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
|
|
G |
Stmn1 |
stathmin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:151,964,308...151,970,843
|
|
G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
|
NCBI chr 1:255,199,108...255,296,983
|
|
G |
Synj1 |
synaptojanin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr11:30,192,629...30,269,447
|
|
G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr11:82,409,275...82,419,058
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19151717 |
|
NCBI chr 1:29,637,213...29,659,561
|
|
G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr13:98,160,075...98,261,771
|
|
G |
Tgs1 |
trimethylguanosine synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 5:16,524,864...16,558,399
|
|
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
|
|
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
|
|
G |
Tmem104 |
transmembrane protein 104 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr10:100,427,244...100,485,890
|
|
G |
Tmem170a |
transmembrane protein 170A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr19:56,743,221...56,756,085
|
|
G |
Tmem176b |
transmembrane protein 176B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 4:77,766,928...77,774,740
|
|
G |
Tmem19 |
transmembrane protein 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:50,958,884...50,985,601
|
|
G |
Tmem217 |
transmembrane protein 217 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr20:7,584,177...7,619,023
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
DNA:mutations:cds: 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 |
ClinVar OMIM CTD RGD |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 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:11481490 PMID:11511317 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18391940 PMID:18511570 PMID:18685109 PMID:18940924 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:21946351 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 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:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23515929 PMID:23538418 PMID:23570263 PMID:23571737 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23733769 PMID:23742673 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24634504 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25422255 PMID:25516983 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25907361 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26823150 PMID:26845104 PMID:26911350 PMID:26950094 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27147571 PMID:27153395 PMID:27189670 PMID:27223487 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27616075 PMID:27621308 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28975465 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30816478 PMID:30840781 PMID:30982232 PMID:31081129 PMID:31105275 PMID:31321604 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32427313 PMID:32475984 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32986223 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34240179 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:9539248 PMID:10677095 More...
|
RGD:8547844, RGD:8547848 |
NCBI chr10:54,798,871...54,810,300
|
|
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
|
|
G |
Tuba1a |
tubulin, alpha 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 7:131,992,151...131,996,850
|
|
G |
Tyr |
tyrosinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18488027 |
|
NCBI chr 1:150,527,687...150,622,857
|
|
G |
Ubac2 |
UBA domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr15:98,960,139...99,107,795
|
|
G |
Ust |
uronyl-2-sulfotransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 1:4,487,316...4,782,579
|
|
G |
Vash2 |
vasohibin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr13:102,529,718...102,561,204
|
|
G |
Vcan |
versican |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
|
NCBI chr 2:20,761,718...20,860,637
|
|
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 7:130,864,764...130,916,757
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G |
Vps37d |
VPS37D subunit of ESCRT-I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36428691 |
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NCBI chr12:21,609,210...21,614,669
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G |
Whr1 |
winged helix repair factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26950094 |
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NCBI chr20:4,000,216...4,009,743
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G |
Xpa |
XPA, DNA damage recognition and repair factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17687452 |
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NCBI chr 5:60,431,673...60,475,726
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16501254 |
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NCBI chr 6:136,684,558...136,694,822
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G |
Xrcc5 |
X-ray repair cross complementing 5 |
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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
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G |
Xrcc6 |
X-ray repair cross complementing 6 |
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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
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G |
Ptch1 |
patched 1 |
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ISO |
DNA:missense mutations, nonsense mutations |
RGD |
PMID:25395299 |
RGD:150523793 |
NCBI chr17:1,548,449...1,613,461
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G |
Actb |
actin, beta |
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ISO |
ClinVar Annotator: match by term: BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC |
OMIM ClinVar |
PMID:28347698 PMID:32170967 |
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NCBI chr12:16,776,664...16,779,634
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G |
Glmn |
glomulin, FKBP associated protein |
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ISO |
ClinVar Annotator: match by term: Blue rubber bleb nevus |
ClinVar |
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NCBI chr14:2,187,144...2,231,295
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G |
Tek |
TEK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Blue rubber bleb nevus |
ClinVar |
PMID:10369874 PMID:20301733 PMID:25741868 |
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NCBI chr 5:114,722,815...114,849,535
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:13,253,697...13,273,672
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:13,285,702...13,313,329
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G |
Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10835629 PMID:12190880 PMID:12950348 PMID:14632188 PMID:15854031 PMID:16307661 PMID:16922728 PMID:18234730 PMID:19462465 PMID:19807742 PMID:24728327 PMID:25741868 PMID:28492532 PMID:28864458 More...
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NCBI chr19:34,487,491...34,547,311
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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NCBI chr13:91,475,839...91,758,060
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G |
Ccn1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chr 2:234,562,410...234,565,370
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr18:3,379,482...3,425,100
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:146,772,483...146,779,376
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
severity |
ISO |
DNA:mutations:multiple: |
RGD |
PMID:22522847 |
RGD:14402410 |
NCBI chr 2:117,103,643...117,177,411
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1303619 PMID:1717157 PMID:10730767 PMID:10733662 PMID:11710919 PMID:16098032 PMID:16960809 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 More...
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NCBI chr10:85,137,786...85,142,054
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Eccrine porocarcinoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:129,980,744...130,022,088
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Eccrine porocarcinoma |
ClinVar |
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NCBI chr 8:19,900,211...19,961,906
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G |
Tbx3 |
T-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Eccrine porocarcinoma |
ClinVar |
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NCBI chr12:42,540,378...42,555,490
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G |
Tmem207 |
transmembrane protein 207 |
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ISS |
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MouseDO |
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NCBI chr11:74,251,042...74,270,180
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G |
Tmc6 |
transmembrane channel like 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
CTD ClinVar |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
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NCBI chr10:102,982,059...102,999,509
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G |
Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr10:103,000,038...103,010,601
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G |
Tnrc6c |
trinucleotide repeat containing adaptor 6C |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr10:102,908,958...102,979,543
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G |
Tmc6 |
transmembrane channel like 6 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition |
ClinVar OMIM |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
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NCBI chr10:102,982,059...102,999,509
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G |
Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 |
ClinVar |
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
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NCBI chr10:103,000,038...103,010,601
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G |
Tmc6 |
transmembrane channel like 6 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:102,982,059...102,999,509
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G |
Tmc8 |
transmembrane channel-like 8 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
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NCBI chr10:103,000,038...103,010,601
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G |
Cib1 |
calcium and integrin binding 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 |
OMIM ClinVar |
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
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NCBI chr 1:143,587,591...143,593,153
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G |
Rhoh |
ras homolog family member H |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition |
OMIM ClinVar |
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840 |
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NCBI chr14:42,694,860...42,725,690
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G |
Il7 |
interleukin 7 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 |
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NCBI chr 2:96,142,523...96,186,282
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G |
Krt10 |
keratin 10 |
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ISO |
ClinVar Annotator: match by term: Epidermolytic acanthoma |
ClinVar |
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
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NCBI chr10:84,338,695...84,343,279
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G |
Lemd3 |
LEM domain containing 3 |
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ISO |
DNA:transition mutation:intron: 1522+1G>A(human) |
RGD |
PMID:17223882 |
RGD:11553841 |
NCBI chr 7:56,415,053...56,499,047
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G |
Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,897,282...62,914,295
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G |
Arhgap9 |
Rho GTPase activating protein 9 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,148,573...63,157,025
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G |
Arhgef25 |
Rho guanine nucleotide exchange factor 25 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,005,938...63,013,325
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G |
B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,988,429...62,996,190
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 |
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NCBI chr16:6,453,126...6,461,952
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 |
ClinVar OMIM |
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 PMID:17703371 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:18854871 PMID:19206169 PMID:19376813 PMID:20186801 PMID:20395089 PMID:21784453 PMID:21871821 PMID:22301711 PMID:22495831 PMID:23312806 PMID:23564332 PMID:23975261 PMID:24033266 PMID:24088041 PMID:24409384 PMID:24524299 PMID:24719372 PMID:24775816 PMID:25035421 PMID:25741868 PMID:26242988 PMID:26472072 PMID:26633545 PMID:27146152 PMID:27322245 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28687512 PMID:28783719 PMID:29540830 PMID:30986545 PMID:34411415 More...
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NCBI chr 4:69,329,772...69,476,931
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
OMIM ClinVar |
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9311594 PMID:9425228 PMID:9536098 PMID:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:20668451 PMID:21520333 PMID:21801156 PMID:22804906 PMID:22932448 PMID:23384855 PMID:23546221 PMID:23718828 PMID:23737759 PMID:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25305755 PMID:25318351 PMID:25344691 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28640387 PMID:28726808 PMID:29625052 PMID:29641532 PMID:29774366 PMID:29917049 PMID:30093976 PMID:30374176 PMID:30426508 PMID:30851086 PMID:31118792 PMID:31159747 PMID:31570899 PMID:31784493 PMID:32645390 PMID:32980694 PMID:34130653 PMID:34285288 PMID:34326862 PMID:35264596 PMID:36095024 PMID:36243179 PMID:36816543 More...
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NCBI chr 7:64,771,453...64,774,891
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
OMIM ClinVar |
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 PMID:2677576 PMID:2813514 PMID:5001868 PMID:6307646 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777060 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8631588 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8834170 PMID:8841025 PMID:8880901 PMID:8910511 PMID:9036865 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9168184 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9439668 PMID:9473234 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9710613 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 PMID:10338331 PMID:10360174 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10620111 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10861313 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11008905 PMID:11058911 PMID:11075991 PMID:11078762 PMID:11113205 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11358797 PMID:11360201 PMID:11433531 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11511321 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12019208 PMID:12072543 PMID:12118338 PMID:12175554 PMID:12352668 PMID:12417040 PMID:12417717 PMID:12454511 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12614625 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12920094 PMID:12950144 PMID:14506702 PMID:14508519 PMID:14584079 PMID:14646619 PMID:14646620 PMID:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15863662 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16171945 PMID:16172233 PMID:16199547 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 PMID:16470311 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17001621 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17276542 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17624602 PMID:17625456 PMID:17713569 PMID:17890059 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18024887 PMID:18025365 PMID:18178632 PMID:18205010 PMID:18257688 PMID:18299477 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18445952 PMID:18519632 PMID:18538737 PMID:18573309 PMID:18612309 PMID:18714178 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18951449 PMID:18981015 PMID:18983535 PMID:19043591 PMID:19141585 PMID:19158841 PMID:19260062 PMID:19260067 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19725989 PMID:19741424 PMID:19759551 PMID:19799798 PMID:20093296 PMID:20132244 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20522552 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21503581 PMID:21507037 PMID:21609436 PMID:21610656 PMID:21614589 PMID:21619050 PMID:21672182 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22364812 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23187834 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23687186 PMID:23757202 PMID:23897584 PMID:24012370 PMID:24033266 PMID:24163379 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25326637 PMID:25353071 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26062399 PMID:26104880 PMID:26205736 PMID:26206375 PMID:26223839 PMID:26225579 PMID:26295973 PMID:26333485 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26489725 PMID:26498684 PMID:26542317 PMID:26557774 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26827760 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27074266 PMID:27077911 PMID:27083775 PMID:27095739 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27352967 PMID:27443514 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:27993330 PMID:28060055 PMID:28120917 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28218424 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28528518 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28818438 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29110408 PMID:29263814 PMID:29316957 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29642553 PMID:29661971 PMID:29684080 PMID:29700634 PMID:29758216 PMID:29774366 PMID:29915805 PMID:29922827 PMID:29945567 PMID:29961768 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30207590 PMID:30218143 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30443844 PMID:30548481 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31159747 PMID:31169336 PMID:31382929 PMID:31419753 PMID:31432501 PMID:31468114 PMID:31517177 PMID:31567591 PMID:31721094 PMID:31775759 PMID:31856090 PMID:31921681 PMID:31980996 PMID:32113160 PMID:32191290 PMID:32221274 PMID:32455486 PMID:32482799 PMID:32655615 PMID:32659967 PMID:32941720 PMID:32957588 PMID:32980694 PMID:33050356 PMID:33134534 PMID:33309985 PMID:33322357 PMID:33397043 PMID:33436027 PMID:33753322 PMID:33766116 PMID:33823155 PMID:33939675 PMID:33945383 PMID:34028844 PMID:34069252 PMID:34069952 PMID:34099663 PMID:34369425 PMID:34426522 PMID:34573422 PMID:34646395 PMID:34664323 PMID:35001868 PMID:35029067 PMID:35171259 PMID:35264596 PMID:35446184 PMID:35566480 PMID:35777164 PMID:36139606 PMID:36243179 PMID:36315513 PMID:36628896 PMID:36969747 PMID:36988593 PMID:37322831 PMID:37422710 PMID:37557112 PMID:37611275 PMID:37762649 PMID:109563903 More...
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NCBI chr 5:109,100,763...109,114,448
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:9622062 PMID:28492532 |
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NCBI chr 5:109,123,308...109,134,906
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,756,626...64,761,570
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G |
Dctn2 |
dynactin subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,977,338...64,992,875
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,001,695...65,006,517
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G |
Dnah1 |
dynein, axonemal, heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 |
|
NCBI chr16:6,455,514...6,517,103
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G |
Dtx3 |
deltex E3 ubiquitin ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,013,769...63,018,431
|
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G |
Eef1akmt3 |
EEF1A lysine methyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,853,304...62,864,558
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G |
Fanca |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:68,210,562...68,271,080
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G |
Gli1 |
GLI family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:65,042,237...65,054,888
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G |
Inhbc |
inhibin subunit beta C |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,184,141...63,197,630
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G |
Inhbe |
inhibin subunit beta E |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:65,061,531...65,064,519
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G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,051,894...63,089,024
|
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G |
Klc1 |
kinesin light chain 1 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 |
ClinVar |
PMID:11059748 PMID:28492532 |
|
NCBI chr 6:130,823,416...130,866,729
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G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:65,265,639...65,346,196
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G |
Marchf9 |
membrane associated ring-CH-type finger 9 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,879,017...62,882,495
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G |
Mars1 |
methionyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,006,456...65,023,880
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G |
Mbd6 |
methyl-CpG binding domain protein 6 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,992,877...65,001,274
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
OMIM ClinVar |
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10403794 PMID:10631149 PMID:10733465 PMID:10816645 PMID:11030758 PMID:11254446 PMID:11487574 PMID:11511307 PMID:11707265 PMID:11933208 PMID:12687585 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14757863 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15957185 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16172233 PMID:16280005 PMID:16309897 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17279550 PMID:17316231 PMID:17434924 PMID:17496785 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18795926 PMID:18803811 PMID:18839200 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19656326 PMID:19710684 PMID:19799798 PMID:19924138 PMID:20043015 PMID:20158590 PMID:20457063 PMID:20629734 PMID:20876876 PMID:21128237 PMID:21430882 PMID:21672182 PMID:21749400 PMID:22079958 PMID:22095472 PMID:22095742 PMID:22493355 PMID:22547573 PMID:22854540 PMID:22978401 PMID:23312576 PMID:23360207 PMID:23384855 PMID:23522749 PMID:23647022 PMID:23711066 PMID:24033266 PMID:24045876 PMID:24238329 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24660985 PMID:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389780 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:28869973 PMID:29340229 PMID:31382929 More...
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NCBI chr19:68,360,950...68,363,877
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G |
Mettl1 |
methyltransferase 1, tRNA methylguanosine |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,864,860...62,869,202
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G |
Mitf |
melanocyte inducing transcription factor |
|
ISO |
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 |
ClinVar OMIM |
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 PMID:17576681 PMID:20127975 PMID:20478267 PMID:22012259 PMID:22080950 PMID:22158021 PMID:22320238 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24194866 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24638154 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25943250 PMID:25975176 PMID:26103950 PMID:26467025 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26850479 PMID:26999813 PMID:27153395 PMID:27473757 PMID:27680874 PMID:27759048 PMID:27889061 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28690485 PMID:28825054 PMID:29115496 PMID:29407415 PMID:29484430 PMID:29506128 PMID:29531335 PMID:29625052 PMID:29706638 PMID:30311386 PMID:30394532 PMID:30414346 PMID:31465090 PMID:32054529 PMID:32728090 PMID:33051548 PMID:33240314 PMID:34142234 PMID:34289891 PMID:34662886 PMID:34997062 PMID:36451132 More...
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NCBI chr 4:131,965,676...132,177,790
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G |
Ndufa4l2 |
NDUFA4, mitochondrial complex associated like 2 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,351,021...63,359,010
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G |
Nxph4 |
neurexophilin 4 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,367,758...63,376,579
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G |
Os9 |
OS9, endoplasmic reticulum lectin |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,915,498...62,957,591
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G |
Pip4k2c |
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,905,322...64,920,380
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G |
Pot1 |
protection of telomeres 1 |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25640679 PMID:25741868 PMID:25877891 PMID:25934589 PMID:26365187 PMID:26403419 PMID:26467025 PMID:27013236 PMID:27239034 PMID:27329137 PMID:27365461 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28389767 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28592523 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29625052 PMID:29641532 PMID:29693246 PMID:30414346 PMID:30451293 PMID:30523342 PMID:30556179 PMID:30586141 PMID:30975761 PMID:31919090 PMID:31937561 PMID:32033110 PMID:32155570 PMID:32191290 PMID:32325837 PMID:32449991 PMID:32720348 PMID:32907878 PMID:32987645 PMID:33050356 PMID:33054084 PMID:33119245 PMID:33122293 PMID:33216348 PMID:33525650 PMID:33782098 PMID:33941849 PMID:34193977 PMID:34769003 PMID:35456397 PMID:35727838 PMID:36113475 PMID:36539277 PMID:36876055 PMID:37140166 PMID:38688277 More...
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NCBI chr 4:54,205,330...54,263,137
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 |
ClinVar |
PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 PMID:29706350 PMID:29785012 PMID:30311380 PMID:32350270 PMID:32832836 PMID:32885271 PMID:34793697 PMID:38645101 More...
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NCBI chr 1:240,043,707...240,110,330
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G |
R3hdm2 |
R3H domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,212,519...63,340,574
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G |
Shmt2 |
serine hydroxymethyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,358,961...63,364,293
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G |
Spire2 |
spire-type actin nucleation factor 2 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,373,368...51,411,920
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G |
Stac3 |
SH3 and cysteine rich domain 3 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,343,078...63,350,590
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 |
ClinVar OMIM |
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 PMID:10780518 PMID:11668633 PMID:15188174 PMID:15800014 PMID:16287113 PMID:16407837 PMID:17576681 PMID:19892943 PMID:23399955 PMID:25157968 PMID:25452441 PMID:25503501 PMID:25741868 PMID:25778705 PMID:25980754 PMID:26467025 PMID:26580448 PMID:26928227 PMID:26979979 PMID:27467201 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28944238 PMID:29045518 PMID:29368341 PMID:30093976 PMID:30287823 PMID:30885352 PMID:31159747 PMID:31742824 PMID:32647375 PMID:32658311 PMID:33020649 PMID:33471991 PMID:34326862 PMID:34849607 PMID:35264596 More...
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NCBI chr 7:10,225,204...10,241,965
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G |
Tcf25 |
TCF25 ribosome quality control complex subunit |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,415,341...51,449,725
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 |
OMIM ClinVar |
PMID:15814878 PMID:19561322 PMID:20301779 PMID:20871597 PMID:21436073 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:23901009 PMID:24833766 PMID:25741868 PMID:26136524 PMID:26194807 PMID:26365799 PMID:26433962 PMID:28154186 PMID:28492532 PMID:28813500 PMID:28818973 PMID:29036293 PMID:29483670 PMID:31395865 PMID:35776903 More...
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NCBI chr 1:29,637,213...29,659,561
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 |
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NCBI chr10:54,798,871...54,810,300
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:64,714,330...64,750,106
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G |
Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 PMID:25186627 PMID:25305755 PMID:25318351 PMID:25344691 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26580448 PMID:27640074 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29641532 PMID:29917049 PMID:30093976 PMID:30851086 PMID:31159747 PMID:31784493 PMID:32980694 PMID:34285288 PMID:34326862 PMID:35264596 PMID:36095024 PMID:36243179 More...
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NCBI chr 7:62,889,552...62,892,428
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G |
Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO |
ClinVar |
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28492532 PMID:30472657 PMID:35803923 More...
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NCBI chr 1:150,527,687...150,622,857
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
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ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 |
ClinVar OMIM |
PMID:11059748 PMID:28492532 |
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NCBI chr 6:136,684,558...136,694,822
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G |
Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
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ISS |
OMIM:227850 |
MouseDO |
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NCBI chr 1:181,286,190...181,291,739
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G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
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ISS |
OMIM:227850 |
MouseDO |
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NCBI chr10:11,526,623...11,549,313
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma |
CTD OMIM ClinVar |
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 PMID:16791849 PMID:16928994 PMID:18781618 PMID:19542084 PMID:21267002 PMID:21358634 PMID:22414221 PMID:23358096 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25504618 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29706644 PMID:29907982 PMID:31915033 PMID:33256177 PMID:33824467 PMID:36937954 More...
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NCBI chr 5:66,449,348...66,506,371
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr13:42,630,383...42,634,288
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 3:126,770,945...126,780,769
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G |
Hey1 |
hes-related family bHLH transcription factor with YRPW motif 1 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 2:93,096,605...93,100,316
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 6:98,357,788...98,405,068
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 7:100,573,526...100,614,902
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G |
Notch4 |
notch receptor 4 |
|
ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr20:4,160,362...4,184,466
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G |
Chml |
CHM like Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:90,141,880...90,152,097
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr17:64,696,549...65,158,622
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G |
Exo1 |
exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:90,341,947...90,366,861
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G |
Fh |
fumarate hydratase |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous |
OMIM CTD ClinVar RGD |
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16237213 PMID:16309500 PMID:16403393 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16881969 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18414213 PMID:18514489 PMID:19183174 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20231875 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23203078 PMID:23211287 PMID:23612258 PMID:23707781 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27097334 PMID:27454940 PMID:27541980 PMID:28266706 PMID:28289076 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28518168 PMID:28592321 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29174943 PMID:29423582 PMID:29456767 PMID:29530542 PMID:29625052 PMID:29641532 PMID:29797630 PMID:29893455 PMID:29909963 PMID:29978187 PMID:30013182 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31524643 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:31844177 PMID:32008151 PMID:32012241 PMID:32154112 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 PMID:33397043 PMID:33402335 PMID:33439686 PMID:33442023 PMID:33606809 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34654685 PMID:34994643 PMID:35163394 PMID:35216667 PMID:35251648 PMID:35441217 PMID:35626031 PMID:35806449 PMID:35874919 PMID:35993574 PMID:36315513 PMID:36451132 PMID:36773955 PMID:36777509 PMID:37053010 PMID:38002934 PMID:38279137 PMID:15937070 More...
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RGD:1598939 |
NCBI chr13:90,056,565...90,082,450
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G |
Fmn2 |
formin 2 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:86,454,256...86,771,437
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G |
Grem2 |
gremlin 2, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:86,778,543...86,871,509
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G |
Kmo |
kynurenine 3-monooxygenase |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:90,089,340...90,121,108
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G |
Opn3 |
opsin 3 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:87,589,333...87,619,847
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G |
Pld5 |
phospholipase D family, member 5 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:87,895,694...88,232,868
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G |
Rgs7 |
regulator of G-protein signaling 7 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:86,979,269...87,408,834
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G |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr17:58,389,925...58,975,641
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G |
Wdr64 |
WD repeat domain 64 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr13:87,624,588...87,746,749
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G |
Zp4 |
zona pellucida glycoprotein 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chr17:59,005,649...59,012,202
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|
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G |
Cd28 |
Cd28 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis |
OMIM ClinVar |
|
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NCBI chr 9:69,660,316...69,689,192
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|
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma |
CTD ClinVar OMIM |
PMID:18931684 PMID:25741868 PMID:28492532 |
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NCBI chr 4:119,590,770...119,778,232
|
|
G |
Ccnh |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr 2:17,570,449...17,591,078
|
|
G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:121,927,266...122,056,700
|
|
G |
Flt4 |
Fms related receptor tyrosine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11807987 PMID:25741868 PMID:28492532 |
|
NCBI chr10:34,414,834...34,455,878
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition |
CTD ClinVar OMIM |
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr14:32,572,031...32,615,204
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,224,291...111,304,963
|
|
G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:15,857,704...15,940,757
|
|
G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
|
RGD |
PMID:17554865 |
RGD:12879502 |
NCBI chr 5:138,002,522...138,030,742
|
|
G |
Vegfa |
vascular endothelial growth factor A |
disease_progression |
ISO |
|
RGD |
PMID:26957058 |
RGD:155663370 |
NCBI chr 9:22,452,854...22,468,194
|
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Keratoacanthoma |
ClinVar |
PMID:27283355 |
|
NCBI chr 3:29,676,040...29,721,613
|
|
G |
Notch2 |
notch receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Keratoacanthoma |
ClinVar |
PMID:27283355 |
|
NCBI chr 2:185,610,594...185,744,088
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Keratoacanthoma |
ClinVar |
PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 PMID:28492532 More...
|
|
NCBI chr 2:117,103,643...117,177,411
|
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25326635 PMID:25346259 PMID:25695684 PMID:25741868 PMID:25742471 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27283355 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
|
|
NCBI chr 1:205,712,625...205,729,406
|
|
G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25695684 PMID:25741868 PMID:25742471 PMID:25914166 PMID:26467025 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32165824 PMID:32732226 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
|
|
NCBI chr 1:196,299,843...196,315,170
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1654209 PMID:3102434 PMID:6587382 PMID:10821536 PMID:12727991 PMID:14508525 PMID:15899789 PMID:18633438 PMID:18668139 PMID:19880792 PMID:19966803 PMID:22499344 PMID:22718121 PMID:22773810 PMID:23392294 PMID:23400451 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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|
NCBI chr 2:193,271,399...193,282,023
|
|
|
G |
Fh |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas |
ClinVar |
PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16237213 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:18313410 PMID:20301679 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21520333 PMID:21560188 PMID:22069215 PMID:22528940 PMID:22595425 PMID:22703879 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24441663 PMID:24684806 PMID:24728327 PMID:25741868 PMID:25985877 PMID:26457356 PMID:26467025 PMID:26945337 PMID:27541980 PMID:28300276 PMID:28371217 PMID:28492532 PMID:28518168 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29641532 PMID:29893455 PMID:29909963 PMID:30741757 PMID:30877234 PMID:31162287 PMID:31444830 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33439686 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34654685 PMID:34994643 PMID:35441217 PMID:35626031 PMID:35993574 PMID:36315513 PMID:36773955 PMID:36777509 More...
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|
NCBI chr13:90,056,565...90,082,450
|
|
|
G |
Brd7 |
bromodomain containing 7 |
|
ISO |
ClinVar Annotator: match by term: malignant granular cell tumor |
ClinVar |
|
|
NCBI chr19:34,882,238...34,910,944
|
|
|
G |
Cd68 |
Cd68 molecule |
|
ISO |
protein:increased expression:tumor (human) |
RGD |
PMID:22050913 |
RGD:40925916 |
NCBI chr10:54,880,562...54,882,441
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
mRNA:decreased expression:skin (human) |
RGD |
PMID:28359267 |
RGD:38500206 |
NCBI chr14:81,211,800...81,227,215
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25277525 |
|
NCBI chr 7:95,483,105...95,488,031
|
|
G |
Spa17 |
sperm autoantigenic protein 17 |
|
ISO |
mRNA,protein:increased expression:nucleus |
RGD |
PMID:31218705 |
RGD:27226803 |
NCBI chr 8:37,307,432...37,318,519
|
|
|
G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
|
ISS |
OMIM:158320 |
MouseDO |
|
|
NCBI chr15:16,365,401...17,872,901
|
|
G |
Mlh1 |
mutL homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8566964 PMID:8571956 PMID:8574961 PMID:8592341 PMID:8751876 PMID:8776590 PMID:08808596 PMID:8872463 PMID:8880570 PMID:9234704 PMID:9311737 PMID:9377556 PMID:9536098 PMID:9697702 PMID:9806477 PMID:9927033 PMID:10037723 PMID:10349986 PMID:10422993 PMID:10480359 PMID:10660333 PMID:10713887 PMID:10732761 PMID:10874307 PMID:10995807 PMID:11112663 PMID:11139242 PMID:11151427 PMID:11208710 PMID:11343035 PMID:11369138 PMID:11385712 PMID:11427529 PMID:11429708 PMID:11555625 PMID:11585727 PMID:11601928 PMID:11748856 PMID:11781295 PMID:11793442 PMID:11839723 PMID:11879922 PMID:11920458 PMID:11920650 PMID:11948175 PMID:12095971 PMID:12112654 PMID:12200596 PMID:12362047 PMID:12373605 PMID:12377806 PMID:12522551 PMID:12618391 PMID:12624141 PMID:12658575 PMID:12810663 PMID:12919140 PMID:14514376 PMID:14526391 PMID:14635101 PMID:14762794 PMID:15173238 PMID:15222003 PMID:15254659 PMID:15300854 PMID:15475387 PMID:15520370 PMID:15655560 PMID:15713769 PMID:15845562 PMID:15849733 PMID:15864295 PMID:15870828 PMID:15926618 PMID:15996210 PMID:16083711 PMID:16181381 PMID:16199547 PMID:16203774 PMID:16216036 PMID:16288214 PMID:16338176 PMID:16341550 PMID:16395668 PMID:16451135 PMID:16736289 PMID:16769400 PMID:16830052 PMID:16929514 PMID:16995940 PMID:17011982 PMID:17026620 PMID:17054581 PMID:17117178 PMID:17135187 PMID:17192056 PMID:17210669 PMID:17312306 PMID:17453009 PMID:17510385 PMID:17576681 PMID:17594722 PMID:17889038 PMID:18033691 PMID:18094436 PMID:18307539 PMID:18373977 PMID:18383312 PMID:18470917 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18772310 PMID:18931482 PMID:19116412 PMID:19224586 PMID:19267393 PMID:19324997 PMID:19389263 PMID:19419416 PMID:19669161 PMID:19690142 PMID:19697156 PMID:19698169 PMID:19731080 PMID:19863800 PMID:20020535 PMID:20045164 PMID:20052760 PMID:20215533 PMID:20223024 PMID:20233461 PMID:20373145 PMID:20924129 PMID:20978114 PMID:20978117 PMID:21056691 PMID:21120944 PMID:21247423 PMID:21255554 PMID:21387278 PMID:21404117 PMID:21520333 PMID:21598002 PMID:21636617 PMID:21642682 PMID:21671081 PMID:21681552 PMID:21868491 PMID:22136435 PMID:22180144 PMID:22252508 PMID:22290698 PMID:22322191 PMID:22692065 PMID:22703879 PMID:22736432 PMID:22776989 PMID:22843852 PMID:22875147 PMID:22949379 PMID:22949387 PMID:22995991 PMID:23047549 PMID:23354017 PMID:23403630 PMID:23431106 PMID:23523604 PMID:23729658 PMID:23741719 PMID:23760103 PMID:23797718 PMID:24032978 PMID:24033266 PMID:24055113 PMID:24096645 PMID:24278394 PMID:24344984 PMID:24362816 PMID:24440087 PMID:24456667 PMID:24710284 PMID:24933000 PMID:24953332 PMID:25085752 PMID:25117503 PMID:25133505 PMID:25186627 PMID:25430799 PMID:25477341 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25579085 PMID:25637381 PMID:25741868 PMID:25871441 PMID:26078562 PMID:26096739 PMID:26247049 PMID:26300997 PMID:26332594 PMID:26437257 PMID:26467025 PMID:26485756 PMID:26552419 PMID:26580448 PMID:26637282 PMID:26659639 PMID:26681312 PMID:26743599 PMID:26811195 PMID:26817999 PMID:26845104 PMID:26898890 PMID:26900293 PMID:27064304 PMID:27121310 PMID:27152634 PMID:27300552 PMID:27363726 PMID:27498913 PMID:27601186 PMID:27602174 PMID:27606285 PMID:27629256 PMID:27831900 PMID:27978560 PMID:28135145 PMID:28445943 PMID:28449805 PMID:28466842 PMID:28492532 PMID:28503720 PMID:28514183 PMID:28767289 PMID:28874130 PMID:28888541 PMID:28944238 PMID:29050249 PMID:29238914 PMID:29288294 PMID:29345684 PMID:29360550 PMID:29506128 PMID:29520894 PMID:29596542 PMID:29706640 PMID:29752822 PMID:29887214 PMID:30077346 PMID:30093976 PMID:30262796 PMID:30322717 PMID:30324682 PMID:30504929 PMID:30521064 PMID:30833958 PMID:30982232 PMID:30998989 PMID:31054147 PMID:31118792 PMID:31159747 PMID:31248605 PMID:31332305 PMID:31350202 PMID:31386297 PMID:31391288 PMID:31491536 PMID:31660093 PMID:31784484 PMID:31822864 PMID:31948886 PMID:32040686 PMID:32076465 PMID:32206572 PMID:32587781 PMID:32635641 PMID:32659497 PMID:32719484 PMID:32809219 PMID:32849802 PMID:32980694 PMID:33471991 PMID:33821390 PMID:34039291 PMID:34250417 PMID:34347074 PMID:34359559 PMID:34504932 PMID:34680242 PMID:35223509 PMID:35263119 PMID:35449176 PMID:35467778 PMID:36054288 PMID:36627197 PMID:37224528 More...
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|
NCBI chr 8:120,074,871...120,112,109
|
|
G |
Msh2 |
mutS homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 PMID:8700523 PMID:9002677 PMID:9217825 PMID:9259192 PMID:9288790 PMID:9718327 PMID:10080150 PMID:10323887 PMID:10375096 PMID:10397236 PMID:10874307 PMID:11151427 PMID:11291077 PMID:11601928 PMID:11782355 PMID:12132870 PMID:12200596 PMID:12362047 PMID:12522549 PMID:12537652 PMID:12624141 PMID:14994245 PMID:15235030 PMID:15254659 PMID:15520370 PMID:15655560 PMID:15849733 PMID:15855432 PMID:15872200 PMID:15942939 PMID:15991314 PMID:15996210 PMID:16216036 PMID:16395668 PMID:16451135 PMID:16574953 PMID:16636019 PMID:16736289 PMID:16807412 PMID:16830052 PMID:16996571 PMID:17101317 PMID:17192056 PMID:17250661 PMID:17250665 PMID:17312306 PMID:17473388 PMID:17569143 PMID:17720936 PMID:18033691 PMID:18270343 PMID:18289827 PMID:18325052 PMID:18383312 PMID:18726168 PMID:18772310 PMID:18781192 PMID:18781619 PMID:18951462 PMID:19389263 PMID:19419416 PMID:19731080 PMID:20007843 PMID:20176959 PMID:21120944 PMID:21387278 PMID:21598002 PMID:21642682 PMID:21788563 PMID:21837758 PMID:21868491 PMID:21926548 PMID:22034109 PMID:22290698 PMID:22322191 PMID:22480969 PMID:22581703 PMID:22933731 PMID:22949379 PMID:22949387 PMID:23047549 PMID:23170986 PMID:23229822 PMID:23990280 PMID:24033266 PMID:24040339 PMID:24326041 PMID:24344984 PMID:24362816 PMID:24415873 PMID:24474082 PMID:24506336 PMID:24549055 PMID:24710284 PMID:24728327 PMID:24735542 PMID:24763289 PMID:24851142 PMID:24933000 PMID:25085752 PMID:25093288 PMID:25110875 PMID:25117503 PMID:25133505 PMID:25194673 PMID:25430799 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25639900 PMID:25741868 PMID:25980754 PMID:26094658 PMID:26096739 PMID:26250988 PMID:26270727 PMID:26289772 PMID:26315971 PMID:26332594 PMID:26333163 PMID:26344056 PMID:26381082 PMID:26437257 PMID:26467025 PMID:26552419 PMID:26580448 PMID:26878173 PMID:26900293 PMID:26951660 PMID:27013479 PMID:27153395 PMID:27328445 PMID:27329137 PMID:27363726 PMID:27601186 PMID:27606285 PMID:27629256 PMID:27863258 PMID:28125075 PMID:28195393 PMID:28202063 PMID:28449805 PMID:28491141 PMID:28492532 PMID:28640387 PMID:28767289 PMID:28785832 PMID:28828701 PMID:28874130 PMID:28944238 PMID:29025352 PMID:29212164 PMID:29368341 PMID:29458332 PMID:29489754 PMID:29575718 PMID:29625052 PMID:29706558 PMID:29887214 PMID:29889250 PMID:29945567 PMID:29967336 PMID:30093976 PMID:30131383 PMID:30238922 PMID:30267214 PMID:30274973 PMID:30306255 PMID:30374176 PMID:30521064 PMID:30998989 PMID:31054147 PMID:31159747 PMID:31162827 PMID:31297992 PMID:31391288 PMID:31491536 PMID:31569399 PMID:31615790 PMID:31660093 PMID:31742824 PMID:32075053 PMID:32338768 PMID:32522261 PMID:32658311 PMID:32659497 PMID:32719484 PMID:32809219 PMID:32832836 PMID:33357406 PMID:33422027 PMID:33471991 PMID:33484353 PMID:33580181 PMID:33606809 PMID:33630411 PMID:33827469 PMID:33848333 PMID:34117267 PMID:34250417 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34426522 PMID:34667028 PMID:34761457 PMID:35245693 PMID:35264596 PMID:36356413 PMID:36451132 PMID:36672847 PMID:36845387 More...
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|
NCBI chr 6:12,567,368...12,626,534
|
|
|
G |
Ccnh |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Basal cell carcinoma, multiple |
ClinVar |
PMID:24038909 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:17,570,449...17,591,078
|
|
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 PMID:28492532 PMID:28495808 PMID:30093976 More...
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|
NCBI chr17:1,548,449...1,613,461
|
|
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
|
|
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
|
|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Basal cell carcinoma, multiple |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:59,311,084...59,341,280
|
|
|
G |
Nlrp1a |
NLR family, pyrin domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing |
ClinVar OMIM |
PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 PMID:27662089 PMID:28492532 More...
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|
NCBI chr10:55,778,560...55,833,639
|
|
|
G |
Ampd3 |
adenosine monophosphate deaminase 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:164,884,823...164,929,899
|
|
G |
Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 2:174,061,126...174,118,355
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|
G |
Arhgef40 |
Rho guanine nucleotide exchange factor 40 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr15:24,672,645...24,696,510
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|
G |
Arih2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 8:118,175,267...118,234,425
|
|
G |
Asmtl |
acetylserotonin O-methyltransferase-like |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr12:16,315,335...16,318,083
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:15016963 PMID:15753399 PMID:24033266 |
|
NCBI chr 4:69,329,772...69,476,931
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|
G |
Ccdc28a |
coiled-coil domain containing 28A |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:12,857,668...12,872,944
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|
G |
Cdca2 |
cell division cycle associated 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr15:41,895,946...41,942,226
|
|
G |
Cdcp1 |
CUB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 8:122,828,685...122,865,345
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|
G |
Celf4 |
CUGBP, Elav-like family member 4 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr18:16,786,578...17,065,045
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G |
Clic6 |
chloride intracellular channel 6 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr11:31,737,813...31,780,360
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G |
Clspn |
claspin |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:144,134,619...144,169,531
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|
G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr16:78,047,591...78,183,360
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|
G |
Coro2a |
coronin 2A |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:60,825,630...60,881,917
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|
G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr17:3,935,826...4,096,858
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|
G |
Dchs1 |
dachsous cadherin-related 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:28492532 PMID:32381727 |
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NCBI chr 1:160,104,931...160,138,958
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|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:92,606,743...92,624,089
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|
G |
Ehbp1 |
EH domain binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr14:96,093,327...96,380,502
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|
G |
Elovl5 |
ELOVL fatty acid elongase 5 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 8:78,790,846...78,857,307
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|
G |
Ephb6 |
Eph receptor B6 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 4:71,458,632...71,473,889
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|
G |
Eppk1 |
epiplakin 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 7:107,816,919...107,842,946
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|
G |
Etv5 |
ETS variant transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr11:78,608,618...78,666,221
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|
G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:22,172,275...22,415,978
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|
G |
Fam168b |
family with sequence similarity 168, member B |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 9:37,005,569...37,038,631
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|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr14:12,791,407...13,200,862
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|
G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:12,055,203...12,068,717
|
|
G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:117,602,772...117,838,230
|
|
G |
Grin3a |
glutamate ionotropic receptor NMDA type subunit 3A |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:64,006,847...64,206,408
|
|
G |
Gtdc1 |
glycosyltransferase-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 3:28,766,640...29,161,668
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|
G |
Has1 |
hyaluronan synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:58,693,411...58,705,653
|
|
G |
Hivep1 |
HIVEP zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr17:22,585,016...22,714,517
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G |
Hrh2 |
histamine receptor H 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr17:10,366,004...10,407,791
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr10:14,537,134...14,624,926
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:50,526,878...50,615,265
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|
G |
Igsf3 |
immunoglobulin superfamily, member 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 2:188,811,394...188,899,645
|
|
G |
Ints3 |
integrator complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 2:175,859,421...175,911,683
|
|
G |
Itgal |
integrin subunit alpha L |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:191,348,424...191,386,228
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:25741868 |
|
NCBI chr10:101,705,592...101,741,933
|
|
G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr13:84,802,026...84,835,383
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|
G |
Larp4b |
La ribonucleoprotein 4B |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr17:61,138,663...61,217,423
|
|
G |
Lats1 |
large tumor suppressor kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:3,980,801...4,014,029
|
|
G |
Leng9 |
leukocyte receptor cluster member 9 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:70,039,099...70,041,559
|
|
G |
Lingo3 |
leucine rich repeat and Ig domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 7:8,869,025...8,878,431
|
|
G |
Lrp10 |
LDL receptor related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr15:31,891,358...31,897,530
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|
G |
Lrrfip1 |
LRR binding FLII interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 9:99,039,590...99,167,805
|
|
G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr19:23,055,092...23,074,398
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|
G |
Mfhas1 |
multifunctional ROCO family signaling regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr16:56,545,462...56,633,649
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|
G |
Mlxipl |
MLX interacting protein-like |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr12:27,178,158...27,213,675
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|
G |
Mrrf |
mitochondrial ribosome recycling factor |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 3:39,884,530...39,941,317
|
|
G |
Napsa |
napsin A aspartic peptidase |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:95,064,726...95,077,101
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|
G |
Nr3c2 |
nuclear receptor subfamily 3, group C, member 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr19:47,619,853...47,964,089
|
|
G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:165,709,893...165,784,848
|
|
G |
Oxa1l |
OXA1L, mitochondrial inner membrane protein |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr15:27,813,688...27,821,319
|
|
G |
Pacsin2 |
protein kinase C and casein kinase substrate in neurons 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 7:114,505,525...114,599,087
|
|
G |
Pars2 |
prolyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:121,433,993...121,439,158
|
|
G |
Plagl1 |
PLAG1 like zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:9,297,066...9,337,394
|
|
G |
Pole |
DNA polymerase epsilon, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr12:52,005,155...52,053,761
|
|
G |
Prss1 |
serine protease 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
|
|
NCBI chr 4:70,364,589...70,367,792
|
|
G |
Ptgfr |
prostaglandin F receptor |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 2:240,731,185...240,766,674
|
|
G |
Ptpn21 |
protein tyrosine phosphatase, non-receptor type 21 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 6:117,933,066...117,998,095
|
|
G |
Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:190,433,501...190,457,241
|
|
G |
Rad50 |
RAD50 double strand break repair protein |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr10:37,809,353...37,861,309
|
|
G |
Rbm12b |
RNA binding motif protein 12B |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:25,597,405...25,610,324
|
|
G |
Rbm4 |
RNA binding motif protein 4 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:211,507,845...211,516,907
|
|
G |
Recql5 |
RecQ like helicase 5 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr10:101,126,544...101,165,739
|
|
G |
Rpl36 |
ribosomal protein L36 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 9:1,529,117...1,534,534
|
|
G |
Sacs |
sacsin molecular chaperone |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr15:35,285,783...35,370,335
|
|
G |
Scnn1g |
sodium channel epithelial 1 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:185,736,225...185,770,099
|
|
G |
Senp3 |
SUMO specific peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr10:54,390,698...54,399,590
|
|
G |
Slc27a5 |
solute carrier family 27 member 5 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:82,688,742...82,699,335
|
|
G |
Slc7a2 |
solute carrier family 7 member 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr16:51,417,478...51,470,784
|
|
G |
Smc1b |
structural maintenance of chromosomes 1B |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 7:116,180,987...116,242,778
|
|
G |
Specc1 |
sperm antigen with calponin homology and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr10:47,138,351...47,412,311
|
|
G |
Spen |
spen family transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:153,775,287...153,848,677
|
|
G |
Stil |
STIL, centriolar assembly protein |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:128,520,837...128,573,732
|
|
G |
Ston1 |
stonin 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 6:5,843,186...5,892,557
|
|
G |
Syt7 |
synaptotagmin 7 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:207,031,359...207,093,787
|
|
G |
Tango6 |
transport and golgi organization 6 homolog |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr19:34,569,588...34,757,362
|
|
G |
Tdp1 |
tyrosyl-DNA phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 6:119,163,192...119,231,029
|
|
G |
Tenm3 |
teneurin transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr16:41,251,909...43,978,594
|
|
G |
Tex15 |
testis expressed 15, meiosis and synapsis associated |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr16:58,598,991...58,659,005
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 5:66,449,348...66,506,371
|
|
G |
Tln2 |
talin 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 8:76,712,112...77,133,361
|
|
G |
Tmcc3 |
transmembrane and coiled-coil domain family 3 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 7:30,781,452...31,058,888
|
|
G |
Tmem121 |
transmembrane protein 121 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 6:132,262,182...132,265,797
|
|
G |
Tnks1bp1 |
tankyrase 1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 3:70,135,335...70,160,071
|
|
G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:95,781,805...95,812,095
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr12:47,599,161...47,638,143
|
|
G |
Tsks |
testis-specific serine kinase substrate |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:95,414,312...95,441,670
|
|
G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr20:10,771,806...10,837,419
|
|
G |
Vac14 |
VAC14 component of PIKFYVE complex |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr19:38,590,569...38,691,911
|
|
G |
Vipr2 |
vasoactive intestinal peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 6:136,996,664...137,070,599
|
|
G |
Ylpm1 |
YLP motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 6:104,642,615...104,718,508
|
|
G |
Zfp668 |
zinc finger protein 668 |
|
ISO |
ClinVar Annotator: match by term: Myoepithelial tumor |
ClinVar |
|
|
NCBI chr 1:182,474,633...182,484,957
|
|
|
G |
Zdbf2 |
zinc finger, DBF-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome |
ClinVar |
PMID:23636874 PMID:27139419 |
|
NCBI chr 9:64,672,974...64,748,446
|
|
|
G |
Aopep |
aminopeptidase O |
|
ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 |
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NCBI chr17:1,817,001...2,133,008
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G |
Arl3 |
ARF like GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr 1:255,342,078...255,388,087
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr 1:245,535,462...245,543,148
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G |
Fancc |
FA complementation group C |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 More...
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NCBI chr17:1,686,374...1,818,672
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
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RGD |
PMID:15308259 |
RGD:12801443 |
NCBI chr 7:65,042,237...65,054,888
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16936257 |
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NCBI chr13:29,946,882...30,163,589
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G |
Ptch1 |
patched 1 |
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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 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:16405370 PMID:16419085 PMID:16508594 PMID:16906569 PMID:16909134 PMID:16929110 PMID:16931872 PMID:16936257 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:18539553 PMID:18830227 PMID:19002359 PMID:19287498 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:25403219 PMID:25525159 PMID:25559776 PMID:25567908 PMID:25637381 PMID:25640679 PMID:25727044 PMID:25741868 PMID:25876211 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:30166346 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 PMID:23897749 PMID:19557015 PMID:15308259 PMID:21514272 PMID:12925203 More...
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RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 |
NCBI chr17:1,548,449...1,613,461
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G |
Ptch2 |
patched 2 |
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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 PMID:25260786 PMID:25741868 PMID:28492532 PMID:28915250 PMID:31945512 PMID:32864857 PMID:33077954 More...
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NCBI chr 5:130,571,956...130,592,506
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G |
Pth |
parathyroid hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24803734 |
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NCBI chr 1:176,942,901...176,946,034
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G |
Sfxn2 |
sideroflexin 2 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr 1:245,447,014...245,459,312
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO ISS |
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MouseDO RGD |
PMID:9115210 |
RGD:12802345 |
NCBI chr 4:6,954,017...6,963,170
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G |
Smo |
smoothened, frizzled class receptor |
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ISO |
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RGD |
PMID:15308259 |
RGD:12801443 |
NCBI chr 4:59,311,084...59,341,280
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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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 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:31781912 PMID:32278351 PMID:32295625 PMID:33024317 PMID:34056767 PMID:34589056 PMID:34675124 PMID:35768194 PMID:36825822 More...
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NCBI chr 1:255,199,108...255,296,983
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G |
Trim8 |
tripartite motif-containing 8 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr 1:245,369,632...245,384,513
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G |
Wbp1l |
WW domain binding protein 1-like |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr 1:245,472,292...245,528,627
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G |
Ptch1 |
patched 1 |
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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 PMID:16419085 PMID:18477452 PMID:18502968 PMID:18830227 PMID:19213655 PMID:20301330 PMID:22572734 PMID:24204797 PMID:24814739 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29575684 PMID:30411536 PMID:8681379 More...
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RGD:407424595 |
NCBI chr17:1,548,449...1,613,461
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G |
Ptch2 |
patched 2 |
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ISO |
ClinVar Annotator: match by term: Basal cell nevus syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:130,571,956...130,592,506
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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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...
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NCBI chr 1:255,199,108...255,296,983
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G |
Rspo1 |
R-spondin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition |
OMIM CTD ClinVar |
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 |
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NCBI chr 5:137,251,629...137,273,273
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9065402 PMID:9294210 PMID:9927029 PMID:10192393 PMID:10391090 PMID:10666372 PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26822237 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
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NCBI chr 8:129,517,576...129,544,661
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G |
Mutyh |
mutY DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma |
ClinVar |
PMID:186631 PMID:2914711 PMID:11801590 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15236166 PMID:15635083 PMID:15673720 PMID:15931596 PMID:15987719 PMID:16042573 PMID:16134147 PMID:16287072 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16890597 PMID:17081686 PMID:17489848 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18301448 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19531215 PMID:19620482 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20618354 PMID:20687945 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23625202 PMID:23805267 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24728327 PMID:24733792 PMID:24953332 PMID:25186627 PMID:25590978 PMID:25741868 PMID:25820570 PMID:25980754 PMID:26202870 PMID:26332594 PMID:26377631 PMID:26446593 PMID:26467025 PMID:26556299 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27014339 PMID:27153395 PMID:27783336 PMID:27829682 PMID:27870730 PMID:28087410 PMID:28127763 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28551381 PMID:28577310 PMID:28634180 PMID:28687356 PMID:28709830 PMID:28944238 PMID:29147111 PMID:29371908 PMID:29406563 PMID:29625052 PMID:29766397 PMID:29785153 PMID:29967336 PMID:29978187 PMID:30067863 PMID:30256826 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30620386 PMID:30676620 PMID:30702970 PMID:30787465 PMID:30833417 PMID:30877237 PMID:31159747 PMID:31263571 PMID:31285513 PMID:31447099 PMID:31512090 PMID:31589614 PMID:31618753 PMID:31942411 PMID:31980526 PMID:32088803 PMID:32231684 PMID:32338768 PMID:32570879 PMID:32830346 PMID:32854451 PMID:33087929 PMID:33130102 PMID:33258288 PMID:33384714 PMID:33442023 PMID:33471991 PMID:33504652 PMID:34259353 PMID:34308366 PMID:34347074 PMID:34426522 PMID:34598035 PMID:34704405 PMID:35264596 PMID:35535697 More...
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NCBI chr 5:130,274,034...130,286,149
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26873447 |
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NCBI chr 1:202,855,261...202,868,858
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G |
Ovol2 |
ovo-like zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26873447 |
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NCBI chr 3:131,677,391...131,707,123
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
ClinVar |
PMID:18626305 PMID:24292273 |
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NCBI chr 9:68,685,942...68,801,353
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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ISO |
ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
OMIM ClinVar |
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29743074 PMID:30285736 PMID:31711431 PMID:32581362 More...
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NCBI chr 3:125,810,207...125,895,574
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G |
Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:34228861 PMID:35537890 PMID:36071541 More...
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NCBI chr 9:76,349,931...76,362,400
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G |
Smarcad1 |
SNF2 related chromatin remodeling ATPase with DExD box 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities |
OMIM CTD ClinVar |
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 PMID:29409814 More...
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NCBI chr 4:94,311,441...94,379,184
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
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RGD |
PMID:12354803 |
RGD:8662839 |
NCBI chr20:7,150,820...7,161,373
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G |
Lef1 |
lymphoid enhancer binding factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16565724 |
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NCBI chr 2:222,340,541...222,453,931
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:8919037 |
RGD:7421562 |
NCBI chr 1:227,287,713...227,306,739
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Keratosis Seborrheica |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:18000976 PMID:18642369 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 PMID:17673550 PMID:20593314 PMID:21078999 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
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NCBI chr 2:117,103,643...117,177,411
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) |
RGD |
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