eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	basal cell carcinoma

Disease ID	650
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) C0007117 \| basal cell carcinoma \| 23 C0007117 \| basal cell carcinoma of the skin \| 22 C0007114 \| skin cancer \| 5 C0004779 \| gorlin syndrome \| 4 C0004779 \| basal cell nevus syndrome \| 3 C0025202 \| melanoma \| 3 C0022603 \| seborrheic keratosis \| 3 C0022593 \| keratosis \| 3 C0010414 \| cryptococcosis \| 2 C0007114 \| skin cancers \| 2 C0007137 \| squamous cell carcinoma \| 1 C0035078 \| renal failure \| 1 C0022572 \| keratoacanthoma \| 1 C0026393 \| molluscum contagiosum \| 1 C0153676 \| lung metastasis \| 1 C0242379 \| lung cancer \| 1 C1266005 \| basaloid squamous cell carcinoma \| 1 C0007140 \| carcinosarcomas \| 1 C0025286 \| meningioma \| 1 C0004779 \| basal cell naevus syndrome \| 1 C0013592 \| ectropion \| 1 C0153676 \| pulmonary metastasis \| 1 C0206695 \| neuroendocrine carcinoma \| 1 C0036202 \| sarcoid \| 1 C0043037 \| verruca \| 1 C0043037 \| verruca vulgaris \| 1 C0035328 \| retinal vein occlusion \| 1 C0027960 \| naevus \| 1 C0235752 \| port-wine stain \| 1 C0011649 \| dermoid cyst \| 1 C0684249 \| carcinoma of the lung \| 1 C0036337 \| schizoaffective disorder \| 1 C0346013 \| fibroepithelioma of pinkus \| 1 C0862889 \| superficial basal cell carcinoma \| 1 C0004779 \| naevoid basal cell carcinoma syndrome \| 1 C1857941 \| brooke-spiegler syndrome \| 1 C0025202 \| malignant melanoma \| 1 C0042109 \| urticaria \| 1 C0022661 \| chronic renal failure \| 1 C0039446 \| telangiectasias \| 1 C0039483 \| giant cell arteritis \| 1 C0007117 \| basal cell carcinomas \| 1 C1956391 \| temporal arteritis \| 1 C0030567 \| parkinson disease \| 1 C0027030 \| myiasis \| 1 C0878544 \| cardiomyopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) 7507 \| XPA \| CTD_human 5727 \| PTCH1 \| CTD_human 8643 \| PTCH2 \| CTD_human 100048912 \| CDKN2B-AS1 \| GWASCAT 51151 \| SLC45A2 \| CTD_human 7015 \| TERT \| CTD_human 7157 \| TP53 \| CTD_human;GWASCAT 5921 \| RASA1 \| CTD_human 3569 \| IL6 \| CTD_human 6608 \| SMO \| CTD_human 2736 \| GLI2 \| CTD_human 7517 \| XRCC3 \| CTD_human 7053 \| TGM3 \| GWASCAT 7299 \| TYR \| CTD_human 3852 \| KRT5 \| CTD_human;GWASCAT 353238 \| PADI6 \| GWASCAT 4157 \| MC1R \| CTD_human;GWASCAT 130540 \| ALS2CR12 \| GWASCAT 81037 \| CLPTM1L \| CTD_human;GWASCAT 3872 \| KRT17 \| CTD_human 26166 \| RGS22 \| GWASCAT 434 \| ASIP \| CTD_human 378805 \| LINC-PINT \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:26) 3662 \| IRF4 \| CIPHER 4157 \| MC1R \| CIPHER;CTD_human 353238 \| PADI6 \| CIPHER 58480 \| RHOU \| CIPHER 51151 \| SLC45A2 \| CTD_human 7517 \| XRCC3 \| CTD_human 3872 \| KRT17 \| CTD_human 81037 \| CLPTM1L \| CTD_human 100307119 \| BCC2 \| CTD_human 100307120 \| BCC3 \| CTD_human 100307118 \| BCC1 \| CTD_human 100307123 \| BCC6 \| CTD_human 100307121 \| BCC4 \| CTD_human 100307122 \| BCC5 \| CTD_human 5727 \| PTCH1 \| CTD_human 8643 \| PTCH2 \| CTD_human 3852 \| KRT5 \| CTD_human 2736 \| GLI2 \| CTD_human 7015 \| TERT \| CTD_human 7299 \| TYR \| CTD_human 5921 \| RASA1 \| CTD_human 434 \| ASIP \| CTD_human 3569 \| IL6 \| CTD_human 7157 \| TP53 \| CTD_human 7507 \| XPA \| CTD_human 6608 \| SMO \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:160) 51099 \| ABHD5 \| 1.438 \| DISEASES 367 \| AR \| 2.026 \| DISEASES 55160 \| ARHGEF10L \| 3.071 \| DISEASES 57412 \| AS3MT \| 1.432 \| DISEASES 438 \| ASMT \| 1.071 \| DISEASES 567 \| B2M \| 1.5 \| DISEASES 8314 \| BAP1 \| 1.607 \| DISEASES 631 \| BFSP1 \| 3.496 \| DISEASES 648 \| BMI1 \| 1.853 \| DISEASES 54796 \| BNC2 \| 1.277 \| DISEASES 833 \| CARS \| 1.336 \| DISEASES 401237 \| CASC15 \| 1.877 \| DISEASES 841 \| CASP8 \| 1.589 \| DISEASES 54535 \| CCHCR1 \| 1.606 \| DISEASES 951 \| CD37 \| 1.443 \| DISEASES 960 \| CD44 \| 2.196 \| DISEASES 8318 \| CDC45 \| 1.117 \| DISEASES 1029 \| CDKN2A \| 3.061 \| DISEASES 387836 \| CLEC2A \| 4.096 \| DISEASES 1308 \| COL17A1 \| 1.471 \| DISEASES 1382 \| CRABP2 \| 1.387 \| DISEASES 1499 \| CTNNB1 \| 3.189 \| DISEASES 6387 \| CXCL12 \| 1.026 \| DISEASES 2833 \| CXCR3 \| 1.666 \| DISEASES 7852 \| CXCR4 \| 1.759 \| DISEASES 1543 \| CYP1A1 \| 1.445 \| DISEASES 1565 \| CYP2D6 \| 2.008 \| DISEASES 199699 \| DAND5 \| 3.808 \| DISEASES 285381 \| DPH3 \| 2.295 \| DISEASES 2068 \| ERCC2 \| 1.677 \| DISEASES 54845 \| ESRP1 \| 1.022 \| DISEASES 2113 \| ETS1 \| 1.441 \| DISEASES 7430 \| EZR \| 1.784 \| DISEASES 355 \| FAS \| 1.548 \| DISEASES 356 \| FASLG \| 2.394 \| DISEASES 54455 \| FBXO42 \| 1.924 \| DISEASES 389549 \| FEZF1 \| 1.685 \| DISEASES 2312 \| FLG \| 1.009 \| DISEASES 27023 \| FOXB1 \| 2.009 \| DISEASES 2303 \| FOXC2 \| 2.07 \| DISEASES 2297 \| FOXD1 \| 1.404 \| DISEASES 2306 \| FOXD2 \| 2.076 \| DISEASES 2298 \| FOXD4 \| 2.038 \| DISEASES 286380 \| FOXD4L3 \| 2.49 \| DISEASES 2304 \| FOXE1 \| 2.221 \| DISEASES 2301 \| FOXE3 \| 1.124 \| DISEASES 22887 \| FOXJ3 \| 2.154 \| DISEASES 221937 \| FOXK1 \| 2.842 \| DISEASES 3607 \| FOXK2 \| 1.373 \| DISEASES 2300 \| FOXL1 \| 2.618 \| DISEASES 2305 \| FOXM1 \| 2.077 \| DISEASES 3344 \| FOXN2 \| 1.814 \| DISEASES 4303 \| FOXO4 \| 3.073 \| DISEASES 100132074 \| FOXO6 \| 1.26 \| DISEASES 139628 \| FOXR2 \| 1.569 \| DISEASES 1647 \| GADD45A \| 1.246 \| DISEASES 2736 \| GLI2 \| 5.038 \| DISEASES 2737 \| GLI3 \| 3.044 \| DISEASES 29998 \| GLTSCR1 \| 2.173 \| DISEASES 346562 \| GNAT3 \| 1.005 \| DISEASES 2804 \| GOLGB1 \| 1.32 \| DISEASES 2719 \| GPC3 \| 1.305 \| DISEASES 57000 \| GSN-AS1 \| 1.204 \| DISEASES 2950 \| GSTP1 \| 1.585 \| DISEASES 3039 \| HBA1 \| 1.574 \| DISEASES 3092 \| HIP1 \| 1.844 \| DISEASES 3105 \| HLA-A \| 1.162 \| DISEASES 3106 \| HLA-B \| 1.286 \| DISEASES 3161 \| HMMR \| 1.107 \| DISEASES 8372 \| HYAL3 \| 1.89 \| DISEASES 10437 \| IFI30 \| 1.001 \| DISEASES 3440 \| IFNA2 \| 2.267 \| DISEASES 11020 \| IFT27 \| 2.171 \| DISEASES 3586 \| IL10 \| 1.474 \| DISEASES 54556 \| ING3 \| 1.807 \| DISEASES 27152 \| INTU \| 1.634 \| DISEASES 3713 \| IVL \| 2.689 \| DISEASES 3714 \| JAG2 \| 1.716 \| DISEASES 3725 \| JUN \| 1.687 \| DISEASES 3755 \| KCNG1 \| 1.169 \| DISEASES 57535 \| KIAA1324 \| 1.893 \| DISEASES 10112 \| KIF20A \| 1.166 \| DISEASES 24137 \| KIF4A \| 1.375 \| DISEASES 285643 \| KIF4B \| 3.071 \| DISEASES 374654 \| KIF7 \| 1.143 \| DISEASES 3875 \| KRT18 \| 1.466 \| DISEASES 3880 \| KRT19 \| 3.186 \| DISEASES 3885 \| KRT34 \| 1.992 \| DISEASES 3886 \| KRT35 \| 1.279 \| DISEASES 3851 \| KRT4 \| 1.523 \| DISEASES 3855 \| KRT7 \| 3.243 \| DISEASES 3909 \| LAMA3 \| 1.819 \| DISEASES 4014 \| LOR \| 1.676 \| DISEASES 80059 \| LRRTM4 \| 2.411 \| DISEASES 5609 \| MAP2K7 \| 1.528 \| DISEASES 4157 \| MC1R \| 4.648 \| DISEASES 4193 \| MDM2 \| 1.354 \| DISEASES 83881 \| MIXL1 \| 1.852 \| DISEASES 2315 \| MLANA \| 3.302 \| DISEASES 4311 \| MME \| 2.593 \| DISEASES 4312 \| MMP1 \| 2.063 \| DISEASES 4318 \| MMP9 \| 2.443 \| DISEASES 2475 \| MTOR \| 1.686 \| DISEASES 4582 \| MUC1 \| 1.216 \| DISEASES 4588 \| MUC6 \| 1.195 \| DISEASES 10763 \| NES \| 1.584 \| DISEASES 91624 \| NEXN \| 1.048 \| DISEASES 7080 \| NKX2-1 \| 1.096 \| DISEASES 2649 \| NR6A1 \| 2.164 \| DISEASES 64710 \| NUCKS1 \| 1.454 \| DISEASES 220323 \| OAF \| 1.344 \| DISEASES 4948 \| OCA2 \| 1.598 \| DISEASES 113746 \| ODF3 \| 3.292 \| DISEASES 146852 \| ODF4 \| 3.005 \| DISEASES 139135 \| PASD1 \| 1.59 \| DISEASES 128344 \| PIFO \| 2.2 \| DISEASES 5303 \| PIN4 \| 1.298 \| DISEASES 5429 \| POLH \| 2.565 \| DISEASES 353497 \| POLN \| 1.891 \| DISEASES 5727 \| PTCH1 \| 6.957 \| DISEASES 8643 \| PTCH2 \| 4.163 \| DISEASES 5743 \| PTGS2 \| 1.846 \| DISEASES 5744 \| PTHLH \| 1.39 \| DISEASES 5784 \| PTPN14 \| 1.407 \| DISEASES 5866 \| RAB3IL1 \| 2.041 \| DISEASES 5916 \| RARG \| 1.607 \| DISEASES 55920 \| RCC2 \| 1.651 \| DISEASES 26166 \| RGS22 \| 2.442 \| DISEASES 58480 \| RHOU \| 2.324 \| DISEASES 6023 \| RMRP \| 1.624 \| DISEASES 6041 \| RNASEL \| 1.033 \| DISEASES 6273 \| S100A2 \| 2.05 \| DISEASES 6278 \| S100A7 \| 2.367 \| DISEASES 10284 \| SAP18 \| 2.112 \| DISEASES 5275 \| SERPINB13 \| 2.345 \| DISEASES 5268 \| SERPINB5 \| 1.455 \| DISEASES 2810 \| SFN \| 1.438 \| DISEASES 6443 \| SGCB \| 1.025 \| DISEASES 283652 \| SLC24A5 \| 1.356 \| DISEASES 23583 \| SMUG1 \| 1.048 \| DISEASES 26771 \| SNORD102 \| 2.313 \| DISEASES 6657 \| SOX2 \| 1.226 \| DISEASES 51684 \| SUFU \| 4.499 \| DISEASES 56241 \| SUSD2 \| 1.591 \| DISEASES 83756 \| TAS1R3 \| 1.058 \| DISEASES 7062 \| TCHH \| 1.299 \| DISEASES 7046 \| TGFBR1 \| 2.214 \| DISEASES 51284 \| TLR7 \| 4.163 \| DISEASES 25907 \| TMEM158 \| 1.923 \| DISEASES 7124 \| TNF \| 1.761 \| DISEASES 7158 \| TP53BP1 \| 1.411 \| DISEASES 7306 \| TYRP1 \| 1.722 \| DISEASES 337867 \| UBAC2 \| 2.17 \| DISEASES 7421 \| VDR \| 2.358 \| DISEASES 7453 \| WARS \| 1.04 \| DISEASES 7482 \| WNT2B \| 2.323 \| DISEASES 7507 \| XPA \| 2.386 \| DISEASES 7517 \| XRCC3 \| 2.146 \| DISEASES 79776 \| ZFHX4 \| 1.781 \| DISEASES 7743 \| ZNF189 \| 3.387 \| DISEASES
Locus	(Waiting for update.)

Disease ID	650
Disease	basal cell carcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:26) HP:0002671 \| Basalioma \| 28 HP:0002664 \| Neoplasia \| 13 HP:0003764 \| Naevus \| 6 HP:0002861 \| Melanoma \| 3 HP:0100612 \| Odontogenic neoplasm \| 3 HP:0010603 \| Keratocystic odontogenic tumor \| 3 HP:0010610 \| Palmar pits \| 1 HP:0002858 \| Mengiomia \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0012844 \| Trichilemmoma \| 1 HP:0001052 \| port-wine stain \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0012089 \| Arteritis \| 1 HP:0010612 \| Plantar pits \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0030447 \| Cutaneous APUDoma \| 1 HP:0000656 \| Ectropion \| 1 HP:0030731 \| Carcinoma \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001022 \| Achromasia \| 1 HP:0001025 \| Hives \| 1 HP:0200040 \| Epidermal inclusion cyst \| 1

Disease ID	650
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 C0153690 \| bone metastasis \| 1 C0153676 \| pulmonary metastasis \| 1 C0037284 \| skin lesions \| 1

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

Text Mining Genotype(Total 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:31)
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	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.)

Disease ID	650
Disease	basal cell carcinoma
Case	(Waiting for update.)