PedAM

Pediatric Disease Annotations & Medicines


	basal cell carcinoma

Disease ID	245
Disease	basal cell carcinoma
Definition	A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
Synonym	[m]basal cell carcinoma nos [m]basal cell carcinoma nos (morphologic abnormality) basal cell cancer basal cell carcinoma (morphologic abnormality) basal cell carcinoma of skin basal cell carcinoma of skin (disorder) basal cell carcinoma of the skin basal cell carcinoma, nos basal cell carcinomas basal cell epithelioma basal cell epitheliomas basal cell skin cancer basal cell skin carcinoma basalioma basiloma bcc bcc - basal cell carcinoma bcc - basal cell carcinoma of skin cancer of skin, basal cell carcinoma of the skin, basal cell carcinoma, basal cell carcinoma, basal cell [disease/finding] carcinoma, basal cell, skin carcinomas, basal cell epithelioma basal cell epithelioma basal cell (disorder) epithelioma, basal cell epitheliomas, basal cell rodent ulcer rodent ulcers ru - rodent ulcer skin basal cell carcinoma skin cancer, basal cell carcinoma ulcer, rodent ulcers, rodent
DOID	DOID:2513
UMLS	C0007117
MeSH	D002280
SNOMED-CT	SNOMEDCT_US_2016_09_01:254701007;SNOMEDCT_US_2016_09_01:275265005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:46) C0007114 \| skin cancer \| 7 C0004779 \| gorlin syndrome \| 4 C0022603 \| seborrheic keratosis \| 3 C0004779 \| basal cell nevus syndrome \| 3 C0022593 \| keratosis \| 3 C0025202 \| melanoma \| 3 C0007114 \| skin cancers \| 2 C0010414 \| cryptococcosis \| 2 C0007137 \| squamous cell carcinoma \| 2 C0004779 \| naevoid basal cell carcinoma syndrome \| 1 C0684249 \| carcinoma of the lung \| 1 C1266005 \| basaloid squamous cell carcinoma \| 1 C0004779 \| basal cell naevus syndrome \| 1 C0027960 \| naevus \| 1 C0022661 \| chronic renal failure \| 1 C0007140 \| carcinosarcomas \| 1 C0862889 \| superficial basal cell carcinoma \| 1 C1956391 \| temporal arteritis \| 1 C0035078 \| renal failure \| 1 C0043037 \| verruca \| 1 C0043037 \| verruca vulgaris \| 1 C0007117 \| basal cell carcinomas \| 1 C0022602 \| actinic keratoses \| 1 C0153676 \| lung metastasis \| 1 C0022572 \| keratoacanthoma \| 1 C0039446 \| telangiectasias \| 1 C0039483 \| giant cell arteritis \| 1 C0036337 \| schizoaffective disorder \| 1 C0025286 \| meningioma \| 1 C0026393 \| molluscum contagiosum \| 1 C0011649 \| dermoid cyst \| 1 C0235752 \| port-wine stain \| 1 C0153676 \| pulmonary metastasis \| 1 C0013592 \| ectropion \| 1 C0242379 \| lung cancer \| 1 C0003615 \| appendicitis \| 1 C0042109 \| urticaria \| 1 C0036202 \| sarcoid \| 1 C1857941 \| brooke-spiegler syndrome \| 1 C0042900 \| vitiligo \| 1 C0035328 \| retinal vein occlusion \| 1 C0030567 \| parkinson disease \| 1 C0025202 \| malignant melanoma \| 1 C0027030 \| myiasis \| 1 C0206695 \| neuroendocrine carcinoma \| 1 C0346013 \| fibroepithelioma of pinkus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) IL6 \| 3569 \| CTD_human TP53 \| 7157 \| CTD_human;GWASCAT TYR \| 7299 \| CTD_human TGM3 \| 7053 \| GWASCAT XRCC3 \| 7517 \| CTD_human SMO \| 6608 \| CTD_human SLC45A2 \| 51151 \| CTD_human MC1R \| 4157 \| CTD_human;GWASCAT TERT \| 7015 \| CTD_human KRT17 \| 3872 \| CTD_human PTCH2 \| 8643 \| CTD_human GLI2 \| 2736 \| CTD_human KRT5 \| 3852 \| CTD_human;GWASCAT CLPTM1L \| 81037 \| CTD_human;GWASCAT PTCH1 \| 5727 \| CTD_human ALS2CR12 \| 130540 \| GWASCAT XPA \| 7507 \| CTD_human CDKN2B-AS1 \| 100048912 \| GWASCAT PADI6 \| 353238 \| GWASCAT RASA1 \| 5921 \| CTD_human ASIP \| 434 \| CTD_human LINC-PINT \| 378805 \| GWASCAT RGS22 \| 26166 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3662 \| IRF4 \| infer 4157 \| MC1R \| infer 353238 \| PADI6 \| infer 58480 \| RHOU \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:330) 401237 \| CASC15 \| DISEASES 928 \| CD9 \| DISEASES 2067 \| ERCC1 \| DISEASES 1015 \| CDH17 \| DISEASES 55810 \| FOXJ2 \| DISEASES 3861 \| KRT14 \| DISEASES 54474 \| KRT20 \| DISEASES 4804 \| NGFR \| DISEASES 51668 \| HSPB11 \| DISEASES 4504 \| MT3 \| DISEASES 1725 \| DHPS \| DISEASES 9524 \| TECR \| DISEASES 4320 \| MMP11 \| DISEASES 1113 \| CHGA \| DISEASES 51311 \| TLR8 \| DISEASES 4313 \| MMP2 \| DISEASES 2222 \| FDFT1 \| DISEASES 7040 \| TGFB1 \| DISEASES 1048 \| CEACAM5 \| DISEASES 51384 \| WNT16 \| DISEASES 3131 \| HLF \| DISEASES 8456 \| FOXN1 \| DISEASES 595 \| CCND1 \| DISEASES 4254 \| KITLG \| DISEASES 2735 \| GLI1 \| DISEASES 2026 \| ENO2 \| DISEASES 55770 \| EXOC2 \| DISEASES 3003 \| GZMK \| DISEASES 5948 \| RBP2 \| DISEASES 5947 \| RBP1 \| DISEASES 4436 \| MSH2 \| DISEASES 7844 \| RNF103 \| DISEASES 7291 \| TWIST1 \| DISEASES 5266 \| PI3 \| DISEASES 6615 \| SNAI1 \| DISEASES 3659 \| IRF1 \| DISEASES 6662 \| SOX9 \| DISEASES 3860 \| KRT13 \| DISEASES 8687 \| KRT38 \| DISEASES 2952 \| GSTT1 \| DISEASES 6608 \| SMO \| DISEASES 22933 \| SIRT2 \| DISEASES 968 \| CD68 \| DISEASES 6299 \| SALL1 \| DISEASES 5157 \| PDGFRL \| DISEASES 3881 \| KRT31 \| DISEASES 3852 \| KRT5 \| DISEASES 3848 \| KRT1 \| DISEASES 9590 \| AKAP12 \| DISEASES 9113 \| LATS1 \| DISEASES 83639 \| TEX101 \| DISEASES 3866 \| KRT15 \| DISEASES 3958 \| LGALS3 \| DISEASES 2947 \| GSTM3 \| DISEASES 10468 \| FST \| DISEASES 5156 \| PDGFRA \| DISEASES 967 \| CD63 \| DISEASES 3569 \| IL6 \| DISEASES 55997 \| CFC1 \| DISEASES 2295 \| FOXF2 \| DISEASES 4316 \| MMP7 \| DISEASES 4322 \| MMP13 \| DISEASES 9360 \| PPIG \| DISEASES 894 \| CCND2 \| DISEASES 1112 \| FOXN3 \| DISEASES 7572 \| ZNF24 \| DISEASES 1829 \| DSG2 \| DISEASES 10961 \| ERP29 \| DISEASES 999 \| CDH1 \| DISEASES 9093 \| DNAJA3 \| DISEASES 2294 \| FOXF1 \| DISEASES 6558 \| SLC12A2 \| DISEASES 5613 \| PRKX \| DISEASES 7515 \| XRCC1 \| DISEASES 8455 \| ATRN \| DISEASES 6855 \| SYP \| DISEASES 7299 \| TYR \| DISEASES 4072 \| EPCAM \| DISEASES 1386 \| ATF2 \| DISEASES 2247 \| FGF2 \| DISEASES 55247 \| NEIL3 \| DISEASES 7474 \| WNT5A \| DISEASES 6774 \| STAT3 \| DISEASES 5443 \| POMC \| DISEASES 3383 \| ICAM1 \| DISEASES 4171 \| MCM2 \| DISEASES 1950 \| EGF \| DISEASES 6425 \| SFRP5 \| DISEASES 22822 \| PHLDA1 \| DISEASES 8549 \| LGR5 \| DISEASES 50846 \| DHH \| DISEASES 79035 \| NABP2 \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 3858 \| KRT10 \| DISEASES 207 \| AKT1 \| DISEASES 963 \| CD53 \| DISEASES 1956 \| EGFR \| DISEASES 5127 \| CDK16 \| DISEASES 123 \| PLIN2 \| DISEASES 1030 \| CDKN2B \| DISEASES 3439 \| IFNA1 \| DISEASES 23196 \| FAM120A \| DISEASES 4851 \| NOTCH1 \| DISEASES 4319 \| MMP10 \| DISEASES 4613 \| MYCN \| DISEASES 115761 \| ARL11 \| DISEASES 55079 \| FEZF2 \| DISEASES 92106 \| OXNAD1 \| DISEASES 4956 \| ODF1 \| DISEASES 130540 \| ALS2CR12 \| DISEASES 3815 \| KIT \| DISEASES 80243 \| PREX2 \| DISEASES 57822 \| GRHL3 \| DISEASES 3242 \| HPD \| DISEASES 10642 \| IGF2BP1 \| DISEASES 5304 \| PIP \| DISEASES 9794 \| MAML1 \| DISEASES 3856 \| KRT8 \| DISEASES 51127 \| TRIM17 \| DISEASES 3754 \| KCNF1 \| DISEASES 27306 \| HPGDS \| DISEASES 3549 \| IHH \| DISEASES 8819 \| SAP30 \| DISEASES 64399 \| HHIP \| DISEASES 51151 \| SLC45A2 \| DISEASES 6469 \| SHH \| DISEASES 84624 \| FNDC1 \| DISEASES 55582 \| KIF27 \| DISEASES 360 \| AQP3 \| DISEASES 122769 \| LRR1 \| DISEASES 3429 \| IFI27 \| DISEASES 219938 \| SPATA19 \| DISEASES 121643 \| FOXN4 \| DISEASES 4314 \| MMP3 \| DISEASES 56547 \| MMP26 \| DISEASES 3906 \| LALBA \| DISEASES 3489 \| IGFBP6 \| DISEASES 3868 \| KRT16 \| DISEASES 252884 \| ZNF396 \| DISEASES 8313 \| AXIN2 \| DISEASES 200350 \| FOXD4L1 \| DISEASES 5734 \| PTGER4 \| DISEASES 1673 \| DEFB4A \| DISEASES 3171 \| FOXA3 \| DISEASES 11236 \| RNF139 \| DISEASES 2299 \| FOXI1 \| DISEASES 3221 \| HOXC4 \| DISEASES 3622 \| ING2 \| DISEASES 4176 \| MCM7 \| DISEASES 3872 \| KRT17 \| DISEASES 1540 \| CYLD \| DISEASES 9690 \| UBE3C \| DISEASES 7015 \| TERT \| DISEASES 116113 \| FOXP4 \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 5763 \| PTMS \| DISEASES 3849 \| KRT2 \| DISEASES 136259 \| KLF14 \| DISEASES 94160 \| ABCC12 \| DISEASES 2944 \| GSTM1 \| DISEASES 81037 \| CLPTM1L \| DISEASES 354 \| KLK3 \| DISEASES 283150 \| FOXR1 \| DISEASES 810 \| CALML3 \| DISEASES 3170 \| FOXA2 \| DISEASES 8560 \| DEGS1 \| DISEASES 6482 \| ST3GAL1 \| DISEASES 4684 \| NCAM1 \| DISEASES 10808 \| HSPH1 \| DISEASES 54556 \| ING3 \| DISEASES 3039 \| HBA1 \| DISEASES 4312 \| MMP1 \| DISEASES 199699 \| DAND5 \| DISEASES 6657 \| SOX2 \| DISEASES 3909 \| LAMA3 \| DISEASES 951 \| CD37 \| DISEASES 113746 \| ODF3 \| DISEASES 2300 \| FOXL1 \| DISEASES 2303 \| FOXC2 \| DISEASES 3714 \| JAG2 \| DISEASES 221937 \| FOXK1 \| DISEASES 3855 \| KRT7 \| DISEASES 146852 \| ODF4 \| DISEASES 5727 \| PTCH1 \| DISEASES 220323 \| OAF \| DISEASES 91624 \| NEXN \| DISEASES 27152 \| INTU \| DISEASES 2301 \| FOXE3 \| DISEASES 2306 \| FOXD2 \| DISEASES 3607 \| FOXK2 \| DISEASES 3092 \| HIP1 \| DISEASES 8372 \| HYAL3 \| DISEASES 23583 \| SMUG1 \| DISEASES 7430 \| EZR \| DISEASES 1308 \| COL17A1 \| DISEASES 2810 \| SFN \| DISEASES 283652 \| SLC24A5 \| DISEASES 5275 \| SERPINB13 \| DISEASES 2804 \| GOLGB1 \| DISEASES 286380 \| FOXD4L3 \| DISEASES 7743 \| ZNF189 \| DISEASES 2305 \| FOXM1 \| DISEASES 7517 \| XRCC3 \| DISEASES 3344 \| FOXN2 \| DISEASES 83756 \| TAS1R3 \| DISEASES 1499 \| CTNNB1 \| DISEASES 4948 \| OCA2 \| DISEASES 7080 \| NKX2-1 \| DISEASES 7453 \| WARS \| DISEASES 355 \| FAS \| DISEASES 56241 \| SUSD2 \| DISEASES 841 \| CASP8 \| DISEASES 4311 \| MME \| DISEASES 1565 \| CYP2D6 \| DISEASES 26166 \| RGS22 \| DISEASES 2475 \| MTOR \| DISEASES 2736 \| GLI2 \| DISEASES 22887 \| FOXJ3 \| DISEASES 55160 \| ARHGEF10L \| DISEASES 3880 \| KRT19 \| DISEASES 58480 \| RHOU \| DISEASES 83881 \| MIXL1 \| DISEASES 5784 \| PTPN14 \| DISEASES 64710 \| NUCKS1 \| DISEASES 5743 \| PTGS2 \| DISEASES 6041 \| RNASEL \| DISEASES 356 \| FASLG \| DISEASES 1382 \| CRABP2 \| DISEASES 10763 \| NES \| DISEASES 4582 \| MUC1 \| DISEASES 6273 \| S100A2 \| DISEASES 6278 \| S100A7 \| DISEASES 4014 \| LOR \| DISEASES 3713 \| IVL \| DISEASES 2312 \| FLG \| DISEASES 7062 \| TCHH \| DISEASES 7482 \| WNT2B \| DISEASES 128344 \| PIFO \| DISEASES 57412 \| AS3MT \| DISEASES 51684 \| SUFU \| DISEASES 57535 \| KIAA1324 \| DISEASES 139135 \| PASD1 \| DISEASES 1647 \| GADD45A \| DISEASES 3725 \| JUN \| DISEASES 3755 \| KCNG1 \| DISEASES 8643 \| PTCH2 \| DISEASES 5429 \| POLH \| DISEASES 4318 \| MMP9 \| DISEASES 100132074 \| FOXO6 \| DISEASES 5303 \| PIN4 \| DISEASES 2833 \| CXCR3 \| DISEASES 4303 \| FOXO4 \| DISEASES 24137 \| KIF4A \| DISEASES 367 \| AR \| DISEASES 7046 \| TGFBR1 \| DISEASES 2304 \| FOXE1 \| DISEASES 7507 \| XPA \| DISEASES 55920 \| RCC2 \| DISEASES 54455 \| FBXO42 \| DISEASES 648 \| BMI1 \| DISEASES 3105 \| HLA-A \| DISEASES 631 \| BFSP1 \| DISEASES 1543 \| CYP1A1 \| DISEASES 3440 \| IFNA2 \| DISEASES 833 \| CARS \| DISEASES 51284 \| TLR7 \| DISEASES 54796 \| BNC2 \| DISEASES 438 \| ASMT \| DISEASES 6443 \| SGCB \| DISEASES 2315 \| MLANA \| DISEASES 7158 \| TP53BP1 \| DISEASES 2298 \| FOXD4 \| DISEASES 10284 \| SAP18 \| DISEASES 5268 \| SERPINB5 \| DISEASES 353497 \| POLN \| DISEASES 3875 \| KRT18 \| DISEASES 7306 \| TYRP1 \| DISEASES 2068 \| ERCC2 \| DISEASES 2113 \| ETS1 \| DISEASES 3161 \| HMMR \| DISEASES 3886 \| KRT35 \| DISEASES 3885 \| KRT34 \| DISEASES 2719 \| GPC3 \| DISEASES 374654 \| KIF7 \| DISEASES 5916 \| RARG \| DISEASES 5866 \| RAB3IL1 \| DISEASES 10112 \| KIF20A \| DISEASES 6387 \| CXCL12 \| DISEASES 5744 \| PTHLH \| DISEASES 2737 \| GLI3 \| DISEASES 27023 \| FOXB1 \| DISEASES 54535 \| CCHCR1 \| DISEASES 29998 \| GLTSCR1 \| DISEASES 5609 \| MAP2K7 \| DISEASES 346562 \| GNAT3 \| DISEASES 2950 \| GSTP1 \| DISEASES 337867 \| UBAC2 \| DISEASES 10437 \| IFI30 \| DISEASES 80059 \| LRRTM4 \| DISEASES 7852 \| CXCR4 \| DISEASES 285643 \| KIF4B \| DISEASES 51099 \| ABHD5 \| DISEASES 11020 \| IFT27 \| DISEASES 1029 \| CDKN2A \| DISEASES 387836 \| CLEC2A \| DISEASES 960 \| CD44 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 8318 \| CDC45 \| DISEASES 54845 \| ESRP1 \| DISEASES 4588 \| MUC6 \| DISEASES 389549 \| FEZF1 \| DISEASES 3586 \| IL10 \| DISEASES 8314 \| BAP1 \| DISEASES 4193 \| MDM2 \| DISEASES 285381 \| DPH3 \| DISEASES 2649 \| NR6A1 \| DISEASES 25907 \| TMEM158 \| DISEASES 139628 \| FOXR2 \| DISEASES 79776 \| ZFHX4 \| DISEASES 7421 \| VDR \| DISEASES 3851 \| KRT4 \| DISEASES 4157 \| MC1R \| DISEASES 567 \| B2M \| DISEASES 2297 \| FOXD1 \| DISEASES 57000 \| GSN-AS1 \| DISEASES 6023 \| RMRP \| DISEASES 26771 \| SNORD102 \| DISEASES
Locus	(Waiting for update.)

Disease ID	245
Disease	basal cell carcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002664 \| Neoplasia \| 13 HP:0003764 \| Naevus \| 6 HP:0002671 \| Basalioma \| 4 HP:0002861 \| Melanoma \| 3 HP:0010603 \| Keratocystic odontogenic tumor \| 3 HP:0100612 \| Odontogenic neoplasm \| 3 HP:0002860 \| Squamous cell carcinoma \| 2 HP:0000656 \| Ectropion \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001052 \| port-wine stain \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0010612 \| Plantar pits \| 1 HP:0010610 \| Palmar pits \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0200040 \| Epidermal inclusion cyst \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0012089 \| Arteritis \| 1 HP:0012844 \| Trichilemmoma \| 1 HP:0001025 \| Hives \| 1 HP:0001022 \| Achromasia \| 1 HP:0030447 \| Cutaneous APUDoma \| 1 HP:0001045 \| Blotchy loss of skin color \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0002858 \| Mengiomia \| 1

Disease ID	245
Disease	basal cell carcinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:17) C0796561 \| melanoma C0684550 \| spinal metastases C0334041 \| osteoma cutis C0268948 \| scrotal ulcer C0268397 \| cutaneous amyloidosis C0268392 \| localized amyloidosis C0239495 \| granuloma faciale C0238790 \| bone destruction C0220654 \| meningeal carcinomatosis C0162839 \| porokeratosis C0153690 \| bone metastasis C0153676 \| pulmonary metastasis C0037284 \| skin lesions C0027030 \| myiasis C0024232 \| lymphatic metastasis C0022603 \| seborrhoeic keratosis C0002171 \| alopecia areata
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0025202 \| melanoma \| 3 C0027030 \| myiasis \| 1 C0153676 \| pulmonary metastasis \| 1 C0153690 \| bone metastasis \| 1 C0037284 \| skin lesions \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:24)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11170164	25855136	3852	KRT5	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.242367032	2015	KRT5	12	52519884	C	T
rs12210050	21700618	3662	IRF4	umls:C0007117	GAD	[Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.]	0.002367032	2011	LOC105374875	6	475489	C	T
rs13014235	25855136	130540	ALS2CR12	umls:C0007117	GWASCAT	Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)).	0.12	2015	ALS2CR12	2	201350769	C	G
rs157935	25855136	378805	LINC-PINT	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.12	2015	LINC-PINT	7	130900794	T	G
rs157935	24403052	378805	LINC-PINT	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.12	2015	LINC-PINT	7	130900794	T	G
rs1805007	21700618	4157	MC1R	umls:C0007117	GAD	[A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007T: OR (95% CI) for combined discovery set and replication set 1.55 (1.45-1.66); P= 4.3 A 10(-17).]	0.25728386	2011	MC1R	16	89919709	C	G,T
rs1805007	21700618	4157	MC1R	umls:C0007117	GWASCAT	A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].	0.25728386	2011	MC1R	16	89919709	C	G,T
rs214782	25855136	7053	TGM3	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.12	2015	TGM3;LOC105372503	20	2301324	G	A
rs214782	24403052	7053	TGM3	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.12	2015	TGM3;LOC105372503	20	2301324	G	A
rs2151280	24403052	100048912	CDKN2B-AS1	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.12	2015	CDKN2B-AS1	9	22034720	G	A
rs2151280	25855136	100048912	CDKN2B-AS1	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.12	2015	CDKN2B-AS1	9	22034720	G	A
rs401681	25855136	81037	CLPTM1L	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.242367032	2015	CLPTM1L	5	1321972	C	T
rs401681	19151717	81037	CLPTM1L	umls:C0007117	GWASCAT	Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.	0.242367032	2009	CLPTM1L	5	1321972	C	T
rs401681	24403052	81037	CLPTM1L	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.242367032	2015	CLPTM1L	5	1321972	C	T
rs7006527	24403052	26166	RGS22	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.12	2015	RGS22	8	100012277	A	C
rs7006527	25855136	26166	RGS22	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.12	2015	RGS22	8	100012277	A	C
rs7538876	18849993	353238	PADI6	umls:C0007117	GWASCAT	Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.	0.122367032	2008	PADI6	1	17395867	G	A
rs7538876	24403052	353238	PADI6	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.122367032	2015	PADI6	1	17395867	G	A
rs7538876	18849993	353238	PADI6	umls:C0007117	GAD	[Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.]	0.122367032	2008	PADI6	1	17395867	G	A
rs7538876	25855136	353238	PADI6	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.122367032	2015	PADI6	1	17395867	G	A
rs78378222	24403052	7157	TP53	umls:C0007117	GWASCAT	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	0.255274147	2015	TP53	17	7668434	T	G
rs78378222	21946351	7157	TP53	umls:C0007117	GWASCAT	A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.	0.255274147	2011	TP53	17	7668434	T	G
rs78378222	25855136	7157	TP53	umls:C0007117	GWASCAT	New basal cell carcinoma susceptibility loci.	0.255274147	2015	TP53	17	7668434	T	G
rs801114	18849993	58480	RHOU	umls:C0007117	GAD	[Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.]	0.002367032	2008	NA	1	228862088	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:35)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	17722363	rs7538876	G	A	rs7538876	18849993	4.00E-12	NA	1.28	[1.19-1.37]	930 cases; 33,117 controls	NOPOP(34047)	ALL(34047)	NOPOP(34047)	ALL(34047)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs7538876-A	NA	A	PADI6
1	17722363	rs7538876	G	A	rs7538876	24403052	7.00E-14	NA	1.25	[1.18-1.32]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs7538876-A	Research Support, Non-U.S. Gov't	A	PADI6
1	228997835	rs801114	T	G	rs801114	18849993	6.00E-12	NA	1.28	[1.19-1.37]	930 cases; 33,117 controls	NOPOP(34047)	ALL(34047)	NOPOP(34047)	ALL(34047)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs801114-G	NA	G	NA
1	228997835	rs801114	T	G	rs801114	24403052	2.00E-13	NA	1.25	[1.17-1.32]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs801114-G	Research Support, Non-U.S. Gov't	G	NA
3	104590454	rs9826514	C	T	rs9826514	21700618	7.20E-05	NA	NA	NA	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	C	NA
3	104599330	rs11926023	T	C	rs11926023	21700618	4.60E-05	NA	NA	NA	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	T	NA
3	171558344	rs6794092	G	A	rs6794092	21700618	2.00E-06	NA	0.17	[0.10-0.24] unit increase	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs6794092-G	Research Support, N.I.H., Extramural	G	NA
5	1322087	rs401681	C	T	rs401681	19151717	4.00E-12	Basal cell carcinoma	NA	NA	2565 cases; 29405 controls	NOPOP(31970)	ALL(31970)	NOPOP(31970)	ALL(31970)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Comparative Study
5	1322087	rs401681	C	T	rs401681	24403052	2.00E-12	NA	1.23	[1.16-1.30]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs401681-C	Research Support, Non-U.S. Gov't	T	CLPTM1L
5	153509596	rs2033195	T	C	rs2033195	21700618	6.00E-06	NA	0.09	[0.05-0.13] unit increase	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs2033195-C	Research Support, N.I.H., Extramural	C	NA
6	471136	rs12202284	C	A	rs12202284	21700618	6.30E-07	NA	NA	NA	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	C	NA
6	475489	rs12210050	C	T	rs12210050	21700618	1.00E-09	NA	1.24	[1.17-1.31]	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs12210050-T	Research Support, N.I.H., Extramural	C	NA
7	130585553	rs157935	T	G	rs157935	24403052	9.00E-11	NA	1.23	[1.15-1.31]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs157935-T	Research Support, Non-U.S. Gov't	G	LOC646329
8	101024505	rs7006527	A	C	rs7006527	24403052	9.00E-10	NA	1.3	[1.20-1.43]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, Non-U.S. Gov't	A	RGS22
8	101024505	rs7006527	A	C	rs7006527	24403052	9.00E-13	NA	1.3	[1.22-1.41]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, Non-U.S. Gov't	A	RGS22
8	101096089	rs113394050	T	C	rs113394050	24403052	7.38E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs113394050-C	Research Support, Non-U.S. Gov't	T	RGS22
9	22034719	rs2151280	G	A	rs2151280	24403052	3.00E-10	NA	1.2	[1.14-1.27]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs2151280-G	Research Support, Non-U.S. Gov't	C	CDKN2B-AS1
12	52913668	rs11170164	C	T	rs11170164	24403052	3.00E-06	NA	1.25	[1.14-1.37]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs11170164-T	Research Support, Non-U.S. Gov't	G	KRT5
13	99968151	rs9517683	A	G	rs9517683	21700618	2.30E-05	NA	NA	NA	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	A	UBAC2
13	100041738	rs7335046	G	C	rs7335046	21700618	3.00E-08	NA	1.26	[1.18-1.34]	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs7335046-G	Research Support, N.I.H., Extramural	G	NA
16	89986117	rs1805007	C	T	rs1805007	21700618	4.00E-17	NA	1.55	[1.45-1.66]	2,045 European ancestry cases; 6,013 European ancestry controls	European(8058)	ALL(8058)	EUR(8058)	ALL(8058)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs1805007-T	Research Support, N.I.H., Extramural	C	MC1R
17	7571752	rs78378222	T	G	rs78378222	21946351	1.00E-05	Glioma	NA	NA	2121 Icelandic cases; 39614 Icelandic controls	Icelandic(41735)	ALL(41735)	EUR(41735)	ALL(41735)	Skin cancer (cutaneous basal cell carcinoma)	HPOID:0002671	Basal cell carcinoma	DOID:4282	pigmented basal cell carcinoma	NA	NA	NA	NA	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, American Recovery and Reinvestment Act
17	7571752	rs78378222	T	G	rs78378222	21946351	1.60E-04	Colorectal cancer	NA	NA	2121 Icelandic cases; 39614 Icelandic controls	Icelandic(41735)	ALL(41735)	EUR(41735)	ALL(41735)	Skin cancer (cutaneous basal cell carcinoma)	HPOID:0002671	Basal cell carcinoma	DOID:4282	pigmented basal cell carcinoma	NA	NA	NA	NA	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, American Recovery and Reinvestment Act
17	7571752	rs78378222	T	G	rs78378222	21946351	2.20E-20	Cutaneous squamous cell carcinoma (skin cancer)	NA	NA	2121 Icelandic cases; 39614 Icelandic controls	Icelandic(41735)	ALL(41735)	EUR(41735)	ALL(41735)	Skin cancer (cutaneous basal cell carcinoma)	HPOID:0002671	Basal cell carcinoma	DOID:4282	pigmented basal cell carcinoma	NA	NA	NA	NA	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, American Recovery and Reinvestment Act
17	7571752	rs78378222	T	G	rs78378222	21946351	2.40E-06	Prostate cancer	NA	NA	2121 Icelandic cases; 39614 Icelandic controls	Icelandic(41735)	ALL(41735)	EUR(41735)	ALL(41735)	Skin cancer (cutaneous basal cell carcinoma)	HPOID:0002671	Basal cell carcinoma	DOID:4282	pigmented basal cell carcinoma	NA	NA	NA	NA	Basal cell carcinoma	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, American Recovery and Reinvestment Act
17	7571752	rs78378222	T	G	rs78378222	24403052	4.00E-22	NA	2.24	[1.90-2.64]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs78378222-G	Research Support, Non-U.S. Gov't	A	TP53
20	2220310	rs59586681	A	T	rs59586681	24403052	3.00E-09	NA	1.16	[1.11-1.22]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs59586681-T	Research Support, Non-U.S. Gov't	A	NA
20	2262537	rs6082600	T	C	rs6082600	24403052	1.10E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs6082600-C	Research Support, Non-U.S. Gov't	T	NA
20	2270015	rs214748	C	T	rs214748	24403052	9.10E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214748-C	Research Support, Non-U.S. Gov't	C	NA
20	2273987	rs214755	A	T	rs214755	24403052	8.20E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214755-A	Research Support, Non-U.S. Gov't	A	NA
20	2279435	rs214770	A	G	rs214770	24403052	6.20E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214770-A	Research Support, Non-U.S. Gov't	A	TGM3
20	2281970	rs214782	G	A	rs214782	24403052	6.00E-17	NA	1.29	[1.22-1.37]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214782-G	Research Support, Non-U.S. Gov't	G	TGM3
20	2288590	rs214801	G	A	rs214801	24403052	2.50E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214801-G	Research Support, Non-U.S. Gov't	G	TGM3
20	2290333	rs214803	C	A	rs214803	24403052	5.00E-16	NA	1.28	[1.21-1.37]	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214803-G	Research Support, Non-U.S. Gov't	G	TGM3
20	2292273	rs214807	G	A	rs214807	24403052	1.10E-04	NA	NA	NA	4,208 European ancestry cases; 109,408 European ancestry controls	European(113616)	ALL(113616)	EUR(113616)	ALL(113616)	Basal cell carcinoma	HPOID:0002671	Basal cell carcinoma	DOID:2513	basal cell carcinoma	NA	NA	EFOID:0004193	basal cell carcinoma	Basal cell carcinoma	rs214807-G	Research Support, Non-U.S. Gov't	C	TGM3

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0007117	methotrexate	D008727	1959/5/2	carcinoma, basal cell	MESH:D002280	therapeutic	4058741

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)