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encyclopedia of Rare Disease Annotation for Precision Medicine

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	balkan nephropathy

Disease ID	431
Disease	balkan nephropathy
Definition	A form of chronic interstitial nephritis that is endemic to limited areas of BULGARIA, the former YUGOSLAVIA, and ROMANIA. It is characterized by a progressive shrinking of the KIDNEYS that is often associated with uroepithelial tumors.
Synonym	balkan endemic nephropathy balkan nephropathy (disorder) balkan nephropathy [disease/finding] ben danubian endemic familial nephropathy defn endemic nephropathy, balkan nephropathia epidemica nephropathy, balkan nephropathy, balkan endemic
OMIM	OMIM:124100 OMIM:604318
DOID	DOID:3052 DOID:0050201
ICD10	ICD10CM:N15.0
UMLS	C0004698
MeSH	D001449
SNOMED-CT	SNOMEDCT_US_2016_09_01:26121002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0007138 \| urothelial carcinoma \| 3 C0042769 \| virus infection \| 1 C0022658 \| kidney disease \| 1 C0022661 \| chronic kidney disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7157 \| TP53 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2944 \| GSTM1 \| CIPHER 2950 \| GSTP1 \| CIPHER 2952 \| GSTT1 \| CIPHER 1728 \| NQO1 \| CIPHER 7157 \| TP53 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 210 \| ALAD \| 1.818 \| DISEASES 444 \| ASPH \| 1.864 \| DISEASES 567 \| B2M \| 4.422 \| DISEASES 959 \| CD40LG \| 4.312 \| DISEASES 9635 \| CLCA2 \| 2.151 \| DISEASES 1369 \| CPN1 \| 1.659 \| DISEASES 1429 \| CRYZ \| 4.546 \| DISEASES 8029 \| CUBN \| 1.74 \| DISEASES 1528 \| CYB5A \| 2.777 \| DISEASES 1543 \| CYP1A1 \| 4.117 \| DISEASES 1544 \| CYP1A2 \| 3.719 \| DISEASES 1565 \| CYP2D6 \| 1.817 \| DISEASES 346007 \| EYS \| 2.626 \| DISEASES 2534 \| FYN \| 1.443 \| DISEASES 2564 \| GABRE \| 2.813 \| DISEASES 2625 \| GATA3 \| 1.833 \| DISEASES 2625 \| GATA3 \| 1.53 \| DISEASES 2813 \| GP2 \| 2.028 \| DISEASES 2938 \| GSTA1 \| 2.801 \| DISEASES 2950 \| GSTP1 \| 1.362 \| DISEASES 51696 \| HECA \| 2.563 \| DISEASES 3106 \| HLA-B \| 1.052 \| DISEASES 3112 \| HLA-DOB \| 2.431 \| DISEASES 3123 \| HLA-DRB1 \| 1.692 \| DISEASES 23765 \| IL17RA \| 3.063 \| DISEASES 338567 \| KCNK18 \| 2.707 \| DISEASES 3776 \| KCNK2 \| 2.026 \| DISEASES 8645 \| KCNK5 \| 4.958 \| DISEASES 9361 \| LONP1 \| 2.123 \| DISEASES 10724 \| MGEA5 \| 2.834 \| DISEASES 4599 \| MX1 \| 1.162 \| DISEASES 4600 \| MX2 \| 2.191 \| DISEASES 4668 \| NAGA \| 2.23 \| DISEASES 7827 \| NPHS2 \| 1.332 \| DISEASES 5828 \| PEX2 \| 2.838 \| DISEASES 5251 \| PHEX \| 1.019 \| DISEASES 5328 \| PLAU \| 1.765 \| DISEASES 5378 \| PMS1 \| 1.279 \| DISEASES 149830 \| PRNT \| 3.084 \| DISEASES 5950 \| RBP4 \| 1.038 \| DISEASES 23480 \| SEC61G \| 5.072 \| DISEASES 23410 \| SIRT3 \| 1.203 \| DISEASES 9376 \| SLC22A8 \| 1.994 \| DISEASES 6622 \| SNCA \| 3.013 \| DISEASES 6817 \| SULT1A1 \| 3.199 \| DISEASES 6799 \| SULT1A2 \| 2.672 \| DISEASES 259289 \| TAS2R43 \| 4.451 \| DISEASES 57451 \| TENM2 \| 2.819 \| DISEASES 51284 \| TLR7 \| 1.076 \| DISEASES 7124 \| TNF \| 2.531 \| DISEASES 8718 \| TNFRSF25 \| 2.085 \| DISEASES 7178 \| TPT1 \| 1.602 \| DISEASES 9278 \| ZBTB22 \| 1.825 \| DISEASES
Locus	(Waiting for update.)

Disease ID	431
Disease	balkan nephropathy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0000112 \| Nephropathy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0030731 \| Carcinoma \| 3 HP:0001945 \| Fever \| 2 HP:0012586 \| Bilateral kidney degeneration \| 1 HP:0012622 \| Chronic kidney disease \| 1

Disease ID	431
Disease	balkan nephropathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1962972 \| proteinuria
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0007138 \| urothelial carcinoma \| 3

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000112	Nephropathy	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state

Disease ID	431
Disease	balkan nephropathy
Case	(Waiting for update.)

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