PedAM

Pediatric Disease Annotations & Medicines


	inverted follicular keratosis

Disease ID	835
Disease	inverted follicular keratosis
Definition	Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade.
Synonym	basal cell papilloma basosquamous papilloma bcp - basal cell papilloma keratoses seborrheic keratoses, seborrheic keratosis seborrheic keratosis seborrheica keratosis seborrhoeica keratosis senilis keratosis, seborrheic keratosis, seborrheic [disease/finding] pigmented basal cell papilloma seborrheic keratoses seborrheic keratosis seborrheic keratosis (morphologic abnormality) seborrheic keratosis nos seborrheic verruca seborrheic wart seborrheic warts seborrhoeic keratosis seborrhoeic keratosis (disorder) seborrhoeic verruca seborrhoeic wart seborrhoeic warts senile wart senile warts verruca seborrheica verruca seborrhoeica
OMIM	OMIM:182000
DOID	DOID:6498 DOID:6945
UMLS	C0022603
MeSH	D017492
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0007117 \| basal cell carcinoma \| 3 C0023267 \| leiomyoma \| 1 C0016436 \| folliculitis \| 1 C0013595 \| eczema \| 1 C0007137 \| squamous cell carcinoma \| 1 C0007117 \| basal cell carcinomas \| 1 C0002991 \| dermatofibroma \| 1 C0162855 \| mucinosis \| 1 C0002173 \| follicular mucinosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) PIK3CA \| 5290 \| CLINVAR;CTD_human;UNIPROT FGFR3 \| 2261 \| CLINVAR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:84) 4174 \| MCM5 \| DISEASES 1917 \| EEF1A2 \| DISEASES 1048 \| CEACAM5 \| DISEASES 8456 \| FOXN1 \| DISEASES 51053 \| GMNN \| DISEASES 2690 \| GHR \| DISEASES 3003 \| GZMK \| DISEASES 5948 \| RBP2 \| DISEASES 5947 \| RBP1 \| DISEASES 1026 \| CDKN1A \| DISEASES 29997 \| GLTSCR2 \| DISEASES 968 \| CD68 \| DISEASES 6299 \| SALL1 \| DISEASES 6299 \| SALL1 \| DISEASES 3852 \| KRT5 \| DISEASES 3848 \| KRT1 \| DISEASES 3866 \| KRT15 \| DISEASES 84246 \| MED10 \| DISEASES 301 \| ANXA1 \| DISEASES 6498 \| SKIL \| DISEASES 10850 \| CCL27 \| DISEASES 3290 \| HSD11B1 \| DISEASES 8140 \| SLC7A5 \| DISEASES 999 \| CDH1 \| DISEASES 5290 \| PIK3CA \| DISEASES 1475 \| CSTA \| DISEASES 8626 \| TP63 \| DISEASES 4171 \| MCM2 \| DISEASES 4060 \| LUM \| DISEASES 7157 \| TP53 \| DISEASES 3858 \| KRT10 \| DISEASES 9180 \| OSMR \| DISEASES 5295 \| PIK3R1 \| DISEASES 1956 \| EGFR \| DISEASES 10395 \| DLC1 \| DISEASES 3145 \| HMBS \| DISEASES 3145 \| HMBS \| DISEASES 6469 \| SHH \| DISEASES 1381 \| CRABP1 \| DISEASES 6036 \| RNASE2 \| DISEASES 4176 \| MCM7 \| DISEASES 794 \| CALB2 \| DISEASES 3872 \| KRT17 \| DISEASES 3872 \| KRT17 \| DISEASES 51206 \| GP6 \| DISEASES 51206 \| GP6 \| DISEASES 1909 \| EDNRA \| DISEASES 2814 \| GP5 \| DISEASES 2814 \| GP5 \| DISEASES 3855 \| KRT7 \| DISEASES 3753 \| KCNE1 \| DISEASES 9166 \| EBAG9 \| DISEASES 7430 \| EZR \| DISEASES 2261 \| FGFR3 \| DISEASES 6609 \| SMPD1 \| DISEASES 9232 \| PTTG1 \| DISEASES 2475 \| MTOR \| DISEASES 2475 \| MTOR \| DISEASES 3880 \| KRT19 \| DISEASES 54583 \| EGLN1 \| DISEASES 7042 \| TGFB2 \| DISEASES 55811 \| ADCY10 \| DISEASES 910 \| CD1B \| DISEASES 1382 \| CRABP2 \| DISEASES 6273 \| S100A2 \| DISEASES 6277 \| S100A6 \| DISEASES 6278 \| S100A7 \| DISEASES 3713 \| IVL \| DISEASES 2312 \| FLG \| DISEASES 7062 \| TCHH \| DISEASES 55315 \| SLC29A3 \| DISEASES 9500 \| MAGED1 \| DISEASES 100507436 \| MICA \| DISEASES 2315 \| MLANA \| DISEASES 7158 \| TP53BP1 \| DISEASES 11202 \| KLK8 \| DISEASES 1394 \| CRHR1 \| DISEASES 29072 \| SETD2 \| DISEASES 1029 \| CDKN2A \| DISEASES 387836 \| CLEC2A \| DISEASES 387836 \| CLEC2A \| DISEASES 285381 \| DPH3 \| DISEASES 488 \| ATP2A2 \| DISEASES 8742 \| TNFSF12 \| DISEASES
Locus	(Waiting for update.)

Disease ID	835
Disease	inverted follicular keratosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0200043 \| Verrucae
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0030731 \| Carcinoma \| 4 HP:0002671 \| Basalioma \| 3 HP:0003764 \| Naevus \| 2 HP:0030410 \| Sebaceous carcinoma \| 2 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0000964 \| Eczema \| 1 HP:0000995 \| Beauty mark \| 1

Disease ID	835
Disease	inverted follicular keratosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0007117 \| basal cell carcinoma \| 3 C0009450 \| infection \| 1

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104886003	NA	5290	PIK3CA	umls:C0022603	CLINVAR	NA	0.36408156	NA	PIK3CA	3	179218303	G	A
rs104894228	23739246	3265	HRAS	umls:C0022603	BeFree	Furthermore, the HRAS mutations p.G13R (2/58 SK) and p.Q61L (2/58 SK) were found.	0.000271442	2015	HRAS;LRRC56	11	534286	C	T,G,A
rs121434568	23739246	1956	EGFR	umls:C0022603	BeFree	We identified a somatic EGFR p.L858R mutation in 1 SK.	0.000542884	2015	EGFR	7	55191822	T	G
rs121913233	23739246	3265	HRAS	umls:C0022603	BeFree	Furthermore, the HRAS mutations p.G13R (2/58 SK) and p.Q61L (2/58 SK) were found.	0.000271442	2015	HRAS;LRRC56	11	533874	T	G,C,A
rs121913279	NA	5290	PIK3CA	umls:C0022603	CLINVAR	NA	0.36408156	NA	PIK3CA	3	179234297	A	G,T
rs121913482	NA	2261	FGFR3	umls:C0022603	CLINVAR	NA	0.255240471	NA	FGFR3	4	1801837	C	T
rs121913483	NA	2261	FGFR3	umls:C0022603	CLINVAR	NA	0.255240471	NA	FGFR3	4	1801841	C	G,T

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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0022603	alitretinoin	C103303	5300/3/8	keratosis, seborrheic	MESH:D017492	therapeutic	16144296

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

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

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