| 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 |