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	denys-drash syndrome

Disease ID	52
Disease	denys-drash syndrome
Definition	A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer.
Synonym	denys drash syndrome denys-drash syndrome [disease/finding] drash syndrome drash syndrome (disorder) nephropathy, wilms tumor, and genital anomalies nephrotic syndrome type 4 nephrotic syndrome with pseudohermaphroditism pseudohermaphroditism, nephron disorder and wilms' tumor syndrome, denys-drash syndrome, drash wilms tumor and pseudo- or true hermaphroditism wilms tumor and pseudohermaphroditism wilms' tumor and nephrotic syndrome with pseudohermaphroditism wilms' tumour and nephrotic syndrome with pseudohermaphroditism
Orphanet	ORPHANET:220
OMIM	OMIM:194080
DOID	DOID:3764
UMLS	C0950121
MeSH	D030321
SNOMED-CT	SNOMEDCT_US_2016_09_01:236385009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0033687 \| proteinuria \| 1 C0027708 \| wilms tumor \| 1 C0022735 \| klinefelter syndrome \| 1 C0035078 \| renal failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7490 \| WT1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7490 \| WT1 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:30) 375790 \| AGRN \| 1.465 \| DISEASES 546 \| ATRX \| 1.052 \| DISEASES 900 \| CCNG1 \| 2.048 \| DISEASES 23607 \| CD2AP \| 1.777 \| DISEASES 80790 \| CMIP \| 2.772 \| DISEASES 1285 \| COL4A3 \| 1.335 \| DISEASES 1286 \| COL4A4 \| 1.673 \| DISEASES 1287 \| COL4A5 \| 1.233 \| DISEASES 1289 \| COL5A1 \| 2.001 \| DISEASES 2971 \| GTF3A \| 3.134 \| DISEASES 3347 \| HTN3 \| 1.702 \| DISEASES 3481 \| IGF2 \| 3.13 \| DISEASES 4868 \| NPHS1 \| 2.874 \| DISEASES 7827 \| NPHS2 \| 2.487 \| DISEASES 190 \| NR0B1 \| 2.147 \| DISEASES 2516 \| NR5A1 \| 2.255 \| DISEASES 5074 \| PAWR \| 2.107 \| DISEASES 5076 \| PAX2 \| 3.022 \| DISEASES 5154 \| PDGFA \| 3.16 \| DISEASES 5420 \| PODXL \| 2.457 \| DISEASES 6427 \| SRSF2 \| 1.453 \| DISEASES 6736 \| SRY \| 3.204 \| DISEASES 11346 \| SYNPO \| 2.492 \| DISEASES 7490 \| WT1 \| 7.137 \| DISEASES 25844 \| YIPF3 \| 4.675 \| DISEASES 10782 \| ZNF274 \| 4.579 \| DISEASES 51710 \| ZNF44 \| 2.28 \| DISEASES 115560 \| ZNF501 \| 2.32 \| DISEASES 148266 \| ZNF569 \| 2.292 \| DISEASES 284390 \| ZNF763 \| 2.32 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) WT1 \| 11p13

Disease ID	52
Disease	denys-drash syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000083 \| Renal insufficiency \| 1 HP:0002664 \| Neoplasia \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0000093 \| Proteinuria \| 1 HP:0002667 \| Wilms tumor \| 1

Disease ID	52
Disease	denys-drash syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1398810 \| glomerulopathy C0494752 \| diaphragmatic hernia C0268747 \| diffuse mesangial sclerosis C0238395 \| male pseudohermaphroditism C0042063 \| urogenital abnormalities C0027726 \| nephrotic syndrome C0020312 \| hydrothorax C0019061 \| hemolytic uremic syndrome C0006413 \| burkitt's lymphoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0035078 \| renal failure \| 1

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

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907900	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392020	G	A
rs121907901	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392704	C	T
rs121907902	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392013	T	C
rs121907903	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392019	C	G
rs121907904	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32396313	C	T
rs121907905	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392723	A	C
rs121907906	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392717	G	A
rs121907907	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392682	G	C
rs28941778	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392014	C	T
rs28942089	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392672	G	A
rs587776576	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32391967	C	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.)

Disease ID	52
Disease	denys-drash syndrome
Case	(Waiting for update.)

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