PedAM

Pediatric Disease Annotations & Medicines


	glomerulosclerosis

Disease ID	1274
Disease	glomerulosclerosis
Definition	fibrosis and scarring of the renal glomeruli involving a part of or the entire glomerulus; can be limited to a small area or can be diffused throughout the entire kidney; caused by diabetic nephropathy, chronic glomerular nephritis, nephrotic syndrome, or renal hypertension.
Synonym	glomerular sclerosis glomerulosclerosis (disorder) glomerulosclerosis (m-53300) glomerulosclerosis (morphologic abnormality) glomerulosclerosis, nos
DOID	DOID:0050851
UMLS	C0178664
SNOMED-CT	SNOMEDCT_US_2016_09_01:197661001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:74) C0027726 \| nephrotic syndrome \| 23 C0033687 \| proteinuria \| 20 C0022658 \| nephropathy \| 11 C0022658 \| kidney disease \| 11 C0022658 \| renal disease \| 10 C0011847 \| diabetes \| 9 C0020538 \| hypertension \| 8 C0035078 \| renal failure \| 7 C0022661 \| end-stage renal disease \| 7 C0011881 \| diabetic nephropathy \| 7 C0017658 \| glomerulonephritis \| 5 C1565489 \| renal insufficiency \| 5 C0028754 \| obesity \| 4 C0027697 \| nephritis \| 4 C0235618 \| proliferative glomerulonephritis \| 3 C0011860 \| type 2 diabetes \| 3 C0022661 \| chronic kidney disease \| 3 C0027707 \| interstitial nephritis \| 3 C0022661 \| end stage renal disease \| 2 C0022661 \| end-stage kidney disease \| 2 C0032461 \| polycythemia \| 2 C0017661 \| iga nephropathy \| 2 C0751778 \| progressive myoclonus epilepsy \| 1 C0017668 \| focal sclerosing glomerulonephritis \| 1 C0001175 \| acquired immunodeficiency syndrome (aids) \| 1 C0007785 \| cerebral infarctions \| 1 C0007785 \| cerebral infarct \| 1 C0376545 \| hematological malignancies \| 1 C0007785 \| cerebral infarction \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0008312 \| biliary cirrhosis \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0028756 \| severe obesity \| 1 C0221238 \| mesangial proliferative glomerulonephritis \| 1 C0023434 \| chronic lymphocytic leukaemia \| 1 C0017665 \| membranous nephropathy \| 1 C0268450 \| gitelman syndrome \| 1 C0152013 \| lung adenocarcinoma \| 1 C0041349 \| tubulointerstitial nephritis \| 1 C0342388 \| acth deficiency \| 1 C0036323 \| schistosomiasis \| 1 C0085113 \| neurofibromatosis \| 1 C0001815 \| idiopathic myelofibrosis \| 1 C0042373 \| vascular disease \| 1 C0042384 \| vasculitis \| 1 C0022116 \| ischemia \| 1 C0334634 \| mantle cell lymphoma \| 1 C0011849 \| diabetes mellitus \| 1 C0027719 \| nephrosclerosis \| 1 C0278846 \| invasive thymoma \| 1 C0022661 \| chronic renal disease \| 1 C0001175 \| acquired immunodeficiency syndrome \| 1 C0022667 \| papillary necrosis \| 1 C0403447 \| chronic renal insufficiency \| 1 C0032463 \| polycythemia vera \| 1 C1332977 \| childhood leukemia \| 1 C0008312 \| primary biliary cirrhosis \| 1 C1527336 \| sjogren's syndrome \| 1 C0021053 \| immune disease \| 1 C0403416 \| crescentic glomerulonephritis \| 1 C0023448 \| lymphocytic leukaemia \| 1 C0008728 \| churg-strauss syndrome \| 1 C0409974 \| lupus erythematosus \| 1 C0011860 \| type ii diabetes \| 1 C0085580 \| essential hypertension \| 1 C0010403 \| cryoglobulinemia \| 1 C0022660 \| acute renal failure \| 1 C0023418 \| leukaemia \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0033804 \| pseudohermaphroditism \| 1 C0022658 \| kidney diseases \| 1 C0014544 \| epilepsy \| 1 C0027720 \| nephrosis \| 1 C0036319 \| schistosoma mansoni \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) APOL1 \| 8542 \| GWASCAT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:222) 282706 \| DAOA-AS1 \| DISEASES 1634 \| DCN \| DISEASES 5594 \| MAPK1 \| DISEASES 4627 \| MYH9 \| DISEASES 7076 \| TIMP1 \| DISEASES 2217 \| FCGRT \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 5444 \| PON1 \| DISEASES 5054 \| SERPINE1 \| DISEASES 6347 \| CCL2 \| DISEASES 3558 \| IL2 \| DISEASES 1027 \| CDKN1B \| DISEASES 57122 \| NUP107 \| DISEASES 1839 \| HBEGF \| DISEASES 64902 \| AGXT2 \| DISEASES 2908 \| NR3C1 \| DISEASES 1894 \| ECT2 \| DISEASES 4358 \| MPV17 \| DISEASES 7276 \| TTR \| DISEASES 7043 \| TGFB3 \| DISEASES 27019 \| DNAI1 \| DISEASES 79809 \| TTC21B \| DISEASES 718 \| C3 \| DISEASES 6629 \| SNRPB2 \| DISEASES 23780 \| APOL2 \| DISEASES 968 \| CD68 \| DISEASES 3630 \| INS \| DISEASES 5894 \| RAF1 \| DISEASES 59272 \| ACE2 \| DISEASES 81 \| ACTN4 \| DISEASES 10343 \| PKDREJ \| DISEASES 9590 \| AKAP12 \| DISEASES 182 \| JAG1 \| DISEASES 4608 \| MYBPH \| DISEASES 81494 \| CFHR5 \| DISEASES 8728 \| ADAM19 \| DISEASES 2799 \| GNS \| DISEASES 3569 \| IL6 \| DISEASES 84681 \| HINT2 \| DISEASES 27283 \| TINAG \| DISEASES 51196 \| PLCE1 \| DISEASES 1295 \| COL8A1 \| DISEASES 4069 \| LYZ \| DISEASES 55746 \| NUP133 \| DISEASES 4092 \| SMAD7 \| DISEASES 4087 \| SMAD2 \| DISEASES 7077 \| TIMP2 \| DISEASES 10552 \| ARPC1A \| DISEASES 23523 \| CABIN1 \| DISEASES 3553 \| IL1B \| DISEASES 57669 \| EPB41L5 \| DISEASES 4036 \| LRP2 \| DISEASES 941 \| CD80 \| DISEASES 2247 \| FGF2 \| DISEASES 5443 \| POMC \| DISEASES 3383 \| ICAM1 \| DISEASES 950 \| SCARB2 \| DISEASES 306 \| ANXA3 \| DISEASES 1950 \| EGF \| DISEASES 54443 \| ANLN \| DISEASES 6595 \| SMARCA2 \| DISEASES 3700 \| ITIH4 \| DISEASES 8826 \| IQGAP1 \| DISEASES 6687 \| SPG7 \| DISEASES 4628 \| MYH10 \| DISEASES 207 \| AKT1 \| DISEASES 126374 \| WTIP \| DISEASES 5972 \| REN \| DISEASES 185 \| AGTR1 \| DISEASES 3934 \| LCN2 \| DISEASES 4851 \| NOTCH1 \| DISEASES 5800 \| PTPRO \| DISEASES 130271 \| PLEKHH2 \| DISEASES 22925 \| PLA2R1 \| DISEASES 8526 \| DGKE \| DISEASES 7070 \| THY1 \| DISEASES 5468 \| PPARG \| DISEASES 4643 \| MYO1E \| DISEASES 4690 \| NCK1 \| DISEASES 5909 \| RAP1GAP \| DISEASES 1636 \| ACE \| DISEASES 6352 \| CCL5 \| DISEASES 3856 \| KRT8 \| DISEASES 115 \| ADCY9 \| DISEASES 213 \| ALB \| DISEASES 57619 \| SHROOM3 \| DISEASES 28999 \| KLF15 \| DISEASES 4846 \| NOS3 \| DISEASES 84889 \| SLC7A3 \| DISEASES 3611 \| ILK \| DISEASES 93659 \| CGB5 \| DISEASES 10736 \| SIX2 \| DISEASES 4330 \| MN1 \| DISEASES 7369 \| UMOD \| DISEASES 6383 \| SDC2 \| DISEASES 10238 \| DCAF7 \| DISEASES 23529 \| CLCF1 \| DISEASES 27235 \| COQ2 \| DISEASES 4118 \| MAL \| DISEASES 64236 \| PDLIM2 \| DISEASES 998 \| CDC42 \| DISEASES 1191 \| CLU \| DISEASES 10458 \| BAIAP2 \| DISEASES 8542 \| APOL1 \| DISEASES 27319 \| BHLHE22 \| DISEASES 51715 \| RAB23 \| DISEASES 8727 \| CTNNAL1 \| DISEASES 9370 \| ADIPOQ \| DISEASES 3321 \| IGSF3 \| DISEASES 1730 \| DIAPH2 \| DISEASES 5032 \| P2RY11 \| DISEASES 3309 \| HSPA5 \| DISEASES 1453 \| CSNK1D \| DISEASES 4772 \| NFATC1 \| DISEASES 7490 \| WT1 \| DISEASES 1287 \| COL4A5 \| DISEASES 4088 \| SMAD3 \| DISEASES 6297 \| SALL2 \| DISEASES 51004 \| COQ6 \| DISEASES 342184 \| FMN1 \| DISEASES 153571 \| C5orf38 \| DISEASES 10881 \| ACTL7A \| DISEASES 7430 \| EZR \| DISEASES 5329 \| PLAUR \| DISEASES 1180 \| CLCN1 \| DISEASES 7225 \| TRPC6 \| DISEASES 5962 \| RDX \| DISEASES 5498 \| PPOX \| DISEASES 1499 \| CTNNB1 \| DISEASES 26762 \| HAVCR1 \| DISEASES 9863 \| MAGI2 \| DISEASES 4010 \| LMX1B \| DISEASES 7328 \| UBE2H \| DISEASES 5265 \| SERPINA1 \| DISEASES 92359 \| CRB3 \| DISEASES 50485 \| SMARCAL1 \| DISEASES 253260 \| RICTOR \| DISEASES 23556 \| PIGN \| DISEASES 871 \| SERPINH1 \| DISEASES 55243 \| KIRREL \| DISEASES 23607 \| CD2AP \| DISEASES 84063 \| KIRREL2 \| DISEASES 8828 \| NRP2 \| DISEASES 4311 \| MME \| DISEASES 10724 \| MGEA5 \| DISEASES 88 \| ACTN2 \| DISEASES 183 \| AGT \| DISEASES 1378 \| CR1 \| DISEASES 5788 \| PTPRC \| DISEASES 7827 \| NPHS2 \| DISEASES 1490 \| CTGF \| DISEASES 10763 \| NES \| DISEASES 57107 \| PDSS2 \| DISEASES 128344 \| PIFO \| DISEASES 2334 \| AFF2 \| DISEASES 959 \| CD40LG \| DISEASES 10023 \| FRAT1 \| DISEASES 5236 \| PGM1 \| DISEASES 186 \| AGTR2 \| DISEASES 7422 \| VEGFA \| DISEASES 958 \| CD40 \| DISEASES 4318 \| MMP9 \| DISEASES 310 \| ANXA7 \| DISEASES 129685 \| TAF8 \| DISEASES 286204 \| CRB2 \| DISEASES 27293 \| SMPDL3B \| DISEASES 4736 \| RPL10A \| DISEASES 1896 \| EDA \| DISEASES 10880 \| ACTL7B \| DISEASES 3118 \| HLA-DQA2 \| DISEASES 23509 \| POFUT1 \| DISEASES 1460 \| CSNK2B \| DISEASES 1184 \| CLCN5 \| DISEASES 23590 \| PDSS1 \| DISEASES 3105 \| HLA-A \| DISEASES 1471 \| CST3 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 8029 \| CUBN \| DISEASES 5420 \| PODXL \| DISEASES 4868 \| NPHS1 \| DISEASES 1906 \| EDN1 \| DISEASES 7222 \| TRPC3 \| DISEASES 150084 \| IGSF5 \| DISEASES 6526 \| SLC5A3 \| DISEASES 284217 \| LAMA1 \| DISEASES 51429 \| SNX9 \| DISEASES 64423 \| INF2 \| DISEASES 80310 \| PDGFD \| DISEASES 5361 \| PLXNA1 \| DISEASES 11346 \| SYNPO \| DISEASES 87 \| ACTN1 \| DISEASES 79868 \| ALG13 \| DISEASES 5532 \| PPP3CB \| DISEASES 7041 \| TGFB1I1 \| DISEASES 6696 \| SPP1 \| DISEASES 83478 \| ARHGAP24 \| DISEASES 1285 \| COL4A3 \| DISEASES 1286 \| COL4A4 \| DISEASES 340990 \| OTOG \| DISEASES 81624 \| DIAPH3 \| DISEASES 55083 \| KIF26B \| DISEASES 7018 \| TF \| DISEASES 221935 \| SDK1 \| DISEASES 154810 \| AMOTL1 \| DISEASES 255743 \| NPNT \| DISEASES 85443 \| DCLK3 \| DISEASES 5005 \| ORM2 \| DISEASES 5076 \| PAX2 \| DISEASES 960 \| CD44 \| DISEASES 7124 \| TNF \| DISEASES 387 \| RHOA \| DISEASES 1028 \| CDKN1C \| DISEASES 3586 \| IL10 \| DISEASES 11267 \| SNF8 \| DISEASES 55998 \| NXF5 \| DISEASES 4359 \| MPZ \| DISEASES 84000 \| TMPRSS13 \| DISEASES 80790 \| CMIP \| DISEASES 567 \| B2M \| DISEASES 6139 \| RPL17 \| DISEASES 51352 \| WT1-AS \| DISEASES
Locus	(Waiting for update.)

Disease ID	1274
Disease	glomerulosclerosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:48) HP:0000100 \| Nephrosis \| 24 HP:0000093 \| Proteinuria \| 20 HP:0000083 \| Renal insufficiency \| 12 HP:0000112 \| Nephropathy \| 11 HP:0003774 \| End-stage renal failure \| 9 HP:0000822 \| Hypertension \| 8 HP:0000099 \| Glomerular nephritis \| 5 HP:0012588 \| Steroid-resistant nephrotic syndrome \| 4 HP:0000123 \| Nephritis \| 4 HP:0012592 \| Albuminuria \| 4 HP:0001513 \| Obesity \| 4 HP:0012622 \| Chronic kidney disease \| 3 HP:0012597 \| Heavy proteinuria \| 3 HP:0001970 \| Interstitial nephritis \| 3 HP:0004737 \| Global glomerulosclerosis \| 2 HP:0001901 \| Abnormally shaped erythrocytes \| 2 HP:0000110 \| Renal dysplasia \| 2 HP:0003077 \| Hyperlipidemia \| 2 HP:0030162 \| Glomerulomegaly \| 2 HP:0012593 \| Nephrotic range proteinuria \| 2 HP:0000105 \| Renal enlargement \| 2 HP:0002613 \| Biliary cirrhosis \| 1 HP:0012574 \| Mesangial hypercellularity \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0005576 \| Renal interstitial fibrosis \| 1 HP:0011748 \| Adrenocorticotropic hormone deficiency \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0030078 \| Lung adenocarcinoma \| 1 HP:0100778 \| Cryoglobulinemia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0025005 \| Thickening of glomerular capillary wall \| 1 HP:0008653 \| Crescentic glomerulonephritis \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0002633 \| Vasculitis \| 1 HP:0004722 \| Thickening of the glomerular basement membrane \| 1 HP:0000092 \| Tubular atrophy \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0012594 \| High urine albumin levels \| 1 HP:0004729 \| Acute tubulointerstitial nephritis \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0100699 \| Scarring \| 1 HP:0009741 \| Thickening of kidney artiries \| 1 HP:0000037 \| Male pseudohermaphroditism \| 1

Disease ID	1274
Disease	glomerulosclerosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0033687 \| proteinuria \| 20 C0011881 \| diabetic nephropathy \| 7 C1565489 \| renal insufficiency \| 5 C0022661 \| chronic renal disease \| 1

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
rs2239785	20668430	8542	APOL1	umls:C0178664	GWASCAT	A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.	0.121085767	2010	APOL1	22	36265284	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:1)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
22	36661330	rs2239785	G	A	rs2239785	20668430	5.00E-13	AA	NA	NA	56 African American cases; 61 European descent cases	European(61)	African American(56)	ALL(117)	AFR(56)	EUR(61)	ALL(117)	Glomerulosclerosis	HPOID:0000096	Glomerulosclerosis	DOID:2921	glomerulonephritis	D005923	Glomerulosclerosis, Focal Segmental	EFOID:0004236	focal segmental glomerulosclerosis	Glomerulonephritis	rs2239785-G	Research Support, N.I.H., Extramural

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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