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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   keratoacanthoma
  

Disease ID 1179
Disease keratoacanthoma
Definition
A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption.
Synonym
ka - keratoacanthoma
keratoacanthoma (disorder)
keratoacanthoma (morphologic abnormality)
keratoacanthoma [disease/finding]
keratoacanthoma, nos
keratoacanthomas
molluscum sebaceum
DOID
UMLS
C0022572
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:15)
C0007137  |  squamous cell carcinoma  |  6
C0007137  |  squamous cell carcinomas  |  2
C0235974  |  pancreatic cancer  |  1
C0023646  |  lichen planus  |  1
C0019204  |  hepatocellular carcinoma  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0003873  |  rheumatoid arthritis  |  1
C0346647  |  pancreatic cancers  |  1
C1321489  |  muir-torre syndrome  |  1
C0003864  |  arthritis  |  1
C1527336  |  sjogren's syndrome  |  1
C0022593  |  keratosis  |  1
C0022572  |  keratoacanthoma  |  1
C0007117  |  basal cell carcinoma  |  1
C0004623  |  bacterial infection  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:45)
55256  |  ADI1  |  1.858  |  DISEASES
238  |  ALK  |  1.422  |  DISEASES
309  |  ANXA6  |  1.912  |  DISEASES
369  |  ARAF  |  1.883  |  DISEASES
488  |  ATP2A2  |  1.105  |  DISEASES
578  |  BAK1  |  1.597  |  DISEASES
149483  |  CCDC17  |  4.415  |  DISEASES
9332  |  CD163  |  1.455  |  DISEASES
1029  |  CDKN2A  |  2.461  |  DISEASES
1038  |  CDR1  |  1.51  |  DISEASES
10519  |  CIB1  |  2.024  |  DISEASES
387836  |  CLEC2A  |  3.006  |  DISEASES
1382  |  CRABP2  |  1.737  |  DISEASES
1499  |  CTNNB1  |  1.159  |  DISEASES
2017  |  CTTN  |  2.15  |  DISEASES
93099  |  DMKN  |  3.372  |  DISEASES
7430  |  EZR  |  1.755  |  DISEASES
2312  |  FLG  |  1.829  |  DISEASES
4303  |  FOXO4  |  1.351  |  DISEASES
28996  |  HIPK2  |  2.924  |  DISEASES
3440  |  IFNA2  |  1.164  |  DISEASES
3570  |  IL6R  |  1.035  |  DISEASES
3655  |  ITGA6  |  1.334  |  DISEASES
3713  |  IVL  |  3.624  |  DISEASES
3851  |  KRT4  |  1.829  |  DISEASES
4014  |  LOR  |  2.379  |  DISEASES
378938  |  MALAT1  |  1.117  |  DISEASES
5609  |  MAP2K7  |  2.927  |  DISEASES
4318  |  MMP9  |  1.453  |  DISEASES
4478  |  MSN  |  1.181  |  DISEASES
64710  |  NUCKS1  |  2.717  |  DISEASES
5728  |  PTEN  |  1.017  |  DISEASES
5962  |  RDX  |  1.255  |  DISEASES
7905  |  REEP5  |  1.805  |  DISEASES
6194  |  RPS6  |  1.289  |  DISEASES
6273  |  S100A2  |  1.796  |  DISEASES
6277  |  S100A6  |  2.666  |  DISEASES
6278  |  S100A7  |  2.356  |  DISEASES
7062  |  TCHH  |  2.395  |  DISEASES
84260  |  TCHP  |  1.401  |  DISEASES
6999  |  TDO2  |  1.735  |  DISEASES
8742  |  TNFSF12  |  1.277  |  DISEASES
7170  |  TPM3  |  1.542  |  DISEASES
7171  |  TPM4  |  2.348  |  DISEASES
57178  |  ZMIZ1  |  2.445  |  DISEASES
Locus(Waiting for update.)
Disease ID 1179
Disease keratoacanthoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:9)
HP:0002860  |  Squamous cell carcinoma  |  6
HP:0030731  |  Carcinoma  |  2
HP:0001402  |  Hepatocellular carcinoma  |  1
HP:0001369  |  Arthritis  |  1
HP:0002894  |  Neoplasia of the pancreas  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0002671  |  Basalioma  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0002829  |  Arthralgias  |  1
Disease ID 1179
Disease keratoacanthoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C2240374  |  eosinophilia
C1608408  |  malignant transformation
C1547219  |  basal cell carcinoma
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0007117  |  basal cell carcinoma  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1134880222206740122882ZHX2umls:C0022572BeFreeRAF inhibitors are effective against melanomas with BRAF V600E mutations but may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs).0.0008143262012BRAF7140753336AT,G,C
rs11348802224345644673BRAFumls:C0022572BeFreeKeratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cuSCCs) develop in 15-30% of patients with BRAF(V600E) metastatic melanoma treated with BRAF inhibitors (BRAFi).0.0013572092013BRAF7140753336AT,G,C
rs11348802222067401673BRAFumls:C0022572BeFreeRAF inhibitors are effective against melanomas with BRAF V600E mutations but may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs).0.0013572092012BRAF7140753336AT,G,C
rs113488022220674015894RAF1umls:C0022572BeFreeRAF inhibitors are effective against melanomas with BRAF V600E mutations but may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs).0.0008143262012BRAF7140753336AT,G,C
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1179
Disease keratoacanthoma
Case(Waiting for update.)