C0085413

Polycystic Kidney, Autosomal Dominant

BRD4, MYC, PKD1, PKD2, PPARG

C0085548

Autosomal Recessive Polycystic Kidney Disease

EGFR, NPHP3

C0086445

Idiopathic Membranous Glomerulonephritis

EHMT2, DXO, HLA-DQA1, POU5F1, TCF19, PRRC2A, EGFL8

C0151526

Premature Birth

EDN1, IL6, MBL2, MMP9, PTGS2, SOD2

C0162283

Nephrogenic Diabetes Insipidus

AQP2, AVPR2, PRKCA

C0162809

Kallmann Syndrome

SEMA3A, DUSP6, FGFR1, FLRT3, NSMF, ANOS1, CHD7, WDR11, SPRY4, KISS1R, HS6ST1

C0206081

Hyperandrogenism

BMPR2

C0206115

Wagr Syndrome

BDNF, WT1

C0206630

Endometrial Stromal Sarcoma

JAZF1, SUZ12, YWHAE

C0221043

Liddle Syndrome

SCNN1A, SCNN1G

C0237873

Physiological Sexual Disorders

PRL, PTGER2, PTGER4

C0242341

Sexual Infantilism

CYP19A1

C0242528

Azotemia

GH1

C0265233

Cryptophthalmos Syndrome

FRAS1

C0268301

Reifenstein Syndrome

AR

C0268450

Gitelman Syndrome

CLCNKB

C0268742

Membranoproliferative Glomerulonephritis, Type I

CFH

C0268743

Membranoproliferative Glomerulonephritis, Type Ii

CFH, CFHR1

C0279702

Conventional (Clear Cell) Renal Cell Carcinoma

FLCN, FHIT, HNF1A

C0302592

Cervix Carcinoma

HLA-DPB2, EXOC1, TP53

C0392525

Nephrolithiasis

DGKH

C0403447

Chronic Kidney Insufficiency

LCN2, NGF, RETN, AOC3

C0410916

Neonatal Death

FBN2, SPDL1, FAM20C, POMGNT2

C0451641

Urolithiasis

SLC26A1, APRT

C0455988

Hydrops Fetalis, Non-Immune

DNAH14, HBA1, NEU1, GALNT14, FZD6

C0476089

Endometrial Carcinoma

FGFR2, MLH3, MSH6, KRAS, MSH3, MUTYH, PTEN

C0677776

Hereditary Breast And Ovarian Cancer Syndrome

RAD50, MRE11A, NBN, PTEN, BARD1, RAD51, RAD51C, RAD51D, BRCA1, BRCA2, TP53

C0685837

Pure Gonadal Dysgenesis, 46, Xx

FSHR, PSMC3IP, BMP15

C0752351

Embryo Loss

SLC31A1, GPX4, LIF, LCMT1

C0848558

Hypospadias

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

C0852036

Pregnancy Associated Hypertension

HP, NOS3

C0878681

Dent'S Disease

CLCN5

C0878773

Overactive Bladder

EDN1, NGF

C0919267

Ovarian Neoplasm

HDAC6, CDKN1B, TUBB3, DLC1, YAP1, SRSF10, POP4, CTNNB1, CYP1B1, GADD45A, DOK1, EGFR, ERBB2, EREG, AKT1, FASN, RRAS2, SULF1, FOLR1, ANXA3, XIAP, BIRC5, IL6, IL6ST, CXCL8, AQP3, AREG, KRAS, EPCAM, MET, MKI67, MLH1, MSH2, MYC, ATF3, PARK2, PIK3CA, BNC2, PPP1CC, MAPK1, MAPK3, KLK10, PRTFDC1, PTEN, RAD51C, RAD51D, SKP2, SLC2A1, SLC5A5, SMARCA4, SOD2, SPARC, BRCA1, BRCA2, STAT3, ZEB1, TLR4, TYMS, CAV1, URI1, TNFSF10, CCND2, SELENBP1

C0949595

Gonadal Dysgenesis, 46,Xx

FSHR, PSMC3IP, BMP15

C0950121

Denys-Drash Syndrome

WT1

C0950122

Frasier Syndrome

WT1

C1140680

Malignant Neoplasm Of Ovary

CTNNB1, PIK3CA, BRCA1, BRCA2, MLLT10

C1266042

Chromophobe Renal Cell Carcinoma

FLCN, HNF1A

C1285261

Fetal Nutrition Disorders

MAOA

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

C1567257

Granulosa Cell Cancer

DICER1

C1567743

Alport Syndrome, Autosomal Dominant

COL4A3

C1567744

Alport Syndrome, Autosomal Recessive

COL4A3

C1691228

Cystic Kidney Diseases

SDCCAG8, INS

C1720821

Membranoproliferative Glomerulonephritis, Type Iii

CFH

C1720887

Female Urogenital Diseases

EMX2, ESR1, AMH, AMHR2, HOXA10, IGF1, LIF, BMPR1A, TIMP1, WNT5A

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

C2931618

Gestational Trophoblastic Disease

POU5F1

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

C3536983

Familial Hypophosphatemic Rickets

CLCN5

C3665358

Galactorrhea

PRL