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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   congenital mesoblastic nephroma
  

Disease ID 1672
Disease congenital mesoblastic nephroma
Definition
Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. [HPO:sdoelken]
Synonym
congen mesoblastic nephroma
congenital mesoblastic nephromas
mesoblastic nephroma, congenital
mesoblastic nephromas, congenital
nephroma, congenital mesoblastic
nephromas, congenital mesoblastic
stromal nephroma, malignant
Orphanet
DOID
UMLS
C1332965
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
2120  |  ETV6  |  ORPHANET
4916  |  NTRK3  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:13)
4267  |  CD99  |  1.775  |  DISEASES
2120  |  ETV6  |  5.386  |  DISEASES
9846  |  GAB2  |  2.2  |  DISEASES
3481  |  IGF2  |  2.944  |  DISEASES
4094  |  MAF  |  1.505  |  DISEASES
4151  |  MB  |  1.754  |  DISEASES
4893  |  NRAS  |  4.544  |  DISEASES
93034  |  NT5C1B  |  2.989  |  DISEASES
4916  |  NTRK3  |  5.676  |  DISEASES
4952  |  OCRL  |  2.145  |  DISEASES
10611  |  PDLIM5  |  2.354  |  DISEASES
727837  |  SSX2B  |  1.844  |  DISEASES
7490  |  WT1  |  3.455  |  DISEASES
Locus
Symbol | Locus(Total Locus:2)
ETV6  |  12p13.2
NTRK3  |  15q25.3
Disease ID 1672
Disease congenital mesoblastic nephroma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0000790  |  Hematuria  |  1
Disease ID 1672
Disease congenital mesoblastic nephroma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0020437  |  hypercalcemia
C0020224  |  polyhydramnios
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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 1672
Disease congenital mesoblastic nephroma
Case(Waiting for update.)