Search Diseases

Diseases

UMLS CUI UMLS Term Proteins

C0403823

Asthenozoospermia

GSTT1, PLAU

C0451641

Urolithiasis

SLC26A1, APRT

C0685837

Pure Gonadal Dysgenesis, 46, Xx

FSHR, PSMC3IP, BMP15

C0848558

Hypospadias

MAMLD1, EXOC3, DGKK, GREM1, CCDC59, HOXA3, HSD3B2, KCNMA1, ZFHX3, ATF3, TAX1BP1

C0878681

Dent'S Disease

CLCN5

C0878773

Overactive Bladder

EDN1, NGF

C0949595

Gonadal Dysgenesis, 46,Xx

FSHR, PSMC3IP, BMP15

C0950121

Denys-Drash Syndrome

WT1

C0950122

Frasier Syndrome

WT1

C1266042

Chromophobe Renal Cell Carcinoma

FLCN, HNF1A

C1306837

Papillary Renal Cell Carcinoma

MITF

C1449843

Pseudohypoaldosteronism, Type I, Autosomal Recessive

SCNN1A, SCNN1G

C1449844

Pseudohypoaldosteronism, Type Ii

KLHL3, CUL3

C1456865

Ureteral Calculi

GSR, GSTP1

C1561643

Chronic Kidney Diseases

SLC7A9, CST3, DAB2, DACH1, WDR37, WDR72, SHROOM3, PIP5K1B

C1563705

Nephrogenic Diabetes Insipidus, Type I

AVPR2

C1563706

Nephrogenic Diabetes Insipidus, Type Ii

AQP2

C1563719

Kallmann Syndrome 1

ANOS1

C1563720

Kallmann Syndrome 2 (Disorder)

FGFR1

C1565489

Renal Insufficiency

ACE, AGT, EDN1, APOE, INS, MME

C1567743

Alport Syndrome, Autosomal Dominant

COL4A3

C1567744

Alport Syndrome, Autosomal Recessive

COL4A3

C1691228

Cystic Kidney Diseases

SDCCAG8, INS

C1720821

Membranoproliferative Glomerulonephritis, Type Iii

CFH

C1845168

Hypophosphatemic Rickets, X-Linked Recessive

CLCN5

C2609414

Acute Kidney Injury

OCLN, GPNMB, FSTL1, CLU, CST3, CYP2C9, CYP2D6, HBEGF, EDN1, EGFR, A2M, ALB, G6PD, AMBP, GAS6, GFER, GSK3B, GSTM2, GSTP1, HMOX1, HSPA1A, IGF1, IGFBP1, IL6, IL10, INS, KNG1, LCN2, MPO, MTHFR, NOS3, TNFRSF12A, PPARG, B2M, BAX, SLC11A1, SPP1, TGFB1, TNF, TP53, VEGFA, CD44

C2748895

Ovotesticular Disorders Of Sex Development

SOX9

C2751306

Polycystic Kidney Disease, Type 2

PKD2

C2751824

46, Xy Disorders Of Sex Development

CYP11A1, LHCGR

C2931788

Atypical Hemolytic Uremic Syndrome

CFH, CFHR1, CFI, CD46, CFB, C3

C2936403

46, Xx Disorders Of Sex Development

NR3C1

C2936419

46, Xx Testicular Disorders Of Sex Development

SOX9

C2936694

Swyer Syndrome

NR0B1, DHH, SOX9

C2937421

Prostatic Hyperplasia

FGF7, KLK3, PRL, SRD5A2

C3536983

Familial Hypophosphatemic Rickets

CLCN5

C3658267

Prostatic Neoplasms, Castration-Resistant

AKR1C3

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