PedAM

Pediatric Disease Annotations & Medicines


	dowling-degos disease 1

Disease ID	1903
Disease	dowling-degos disease 1
Synonym	dark dot disease ddd1 dowling-degos disease dowling-degos-kitamura disease reticular pigment anomaly of flexures
Orphanet	ORPHANET:79145
OMIM	OMIM:179850
DOID	DOID:0060256
UMLS	C3714534
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) POGLUT1 \| 56983 \| ORPHANET KRT5 \| 3852 \| CLINVAR;CTD_human;ORPHANET;GHR POFUT1 \| 23509 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:17) 3861 \| KRT14 \| DISEASES 55851 \| PSENEN \| DISEASES 3312 \| HSPA8 \| DISEASES 3852 \| KRT5 \| DISEASES 4853 \| NOTCH2 \| DISEASES 102 \| ADAM10 \| DISEASES 7299 \| TYR \| DISEASES 4851 \| NOTCH1 \| DISEASES 1824 \| DSC2 \| DISEASES 23385 \| NCSTN \| DISEASES 56983 \| POGLUT1 \| DISEASES 5313 \| PKLR \| DISEASES 1825 \| DSC3 \| DISEASES 103 \| ADAR \| DISEASES 1736 \| DKC1 \| DISEASES 23509 \| POFUT1 \| DISEASES 488 \| ATP2A2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1903
Disease	dowling-degos disease 1
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0007456 \| Progressive reticulate hyperpigmentation
Text Mined Phenotype	(Waiting for update.)

Disease ID	1903
Disease	dowling-degos disease 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs58751565	NA	3852	KRT5	umls:C3714534	CLINVAR	NA	0.242985861	NA	KRT5	12	52520283	G	T,A

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:0)
(Waiting for update.)

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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