C0877172

Hematoma, Epidural, Spinal

PLAT

C0878544

Cardiomyopathies

PARP1, MAPK14, ADRB2, CYP2C9, DMD, DSC2, DSG2, AGT, DSP, EDN1, EMD, AKT1, ANKRD1, HGF, HSPD1, HSPE1, FAS, IL1A, IL1B, IL6, AQP2, ITGB1, LAMP2, LDHA, LMNA, LPL, MAP3K5, ATF3, NDUFS2, NDUFV2, NPPB, OLR1, POMC, PPARD, PPP1R1A, AVPR2, PRKAA2, MAPK1, MAPK3, RHOJ, PTGS2, EPG5, RYR2, SGCB, SGCD, SOD2, STAT3, TLR2, TNF, TNNI3, TPM1, YWHAH, TMEM43, CBR1, ACTN2, NEXN, MYOT

C0878677

Glycogen Storage Disease Type Iib

LAMP2

C0878681

Dent'S Disease

CLCN5

C0878773

Overactive Bladder

EDN1, NGF

C0887833

Carcinoma, Pancreatic Ductal

NDRG1, JAG1, AGTR1, HEY1, HES1, HSPA1A, HSPA1B, KRAS, NOTCH1, VEGFA

C0917713

Becker Muscular Dystrophy

DMD

C0917715

Hajdu-Cheney Syndrome

NOTCH2

C0917796

Optic Atrophy, Hereditary, Leber

IL1A, IL1B

C0917799

Hypersomnia

LINC02112

C0917817

Neurofibromatosis 3

NF2

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

C0920269

Microsatellite Instability

MSH6, HDAC2, MIR155, MIR21, MSH3, MTHFR, BAX, TGFBR2, ARID1A, ACVR2A

C0936248

Chondroma

IDH1, IDH2

C0936256

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

AASS

C0947622

Cholecystolithiasis

ABCG8

C0948089

Acute Coronary Syndrome

CKB, CRP, ENO1, GAPDH, PDIA3, GSTP1, HSPD1, ITGB3, LDHB, ARHGDIB, MMP9, SERPINC1, PAPPA, PON1, PSMB1, SOD2, TLR4, ACTG1, TNF, TNNI3, TPM4, VIM, TUBB1, CAPZB

C0948480

Coronary Restenosis

ACE, MTHFR, TNF, ADIPOQ

C0949116

Congenital Hypoplastic Anemia

UMPS, CAD

C0949595

Gonadal Dysgenesis, 46,Xx

FSHR, PSMC3IP, BMP15

C0949658

Cardiomyopathy, Hypertrophic, Familial

CRYAB, DES, DSG2, ANKRD1, LAMP2, TNNI3, TPM1, ACTN2, NEXN

C0949664

Tauopathies

MAPT

C0949690

Spondylarthritis

RUNX2

C0950121

Denys-Drash Syndrome

WT1

C0950122

Frasier Syndrome

WT1

C0950124

Papillomavirus Infections

VAMP7, CASP8, CCNA1

C0993582

Arthritis, Experimental

CRP, DNMT1, EGFR, AHR, ALB, ACSL1, ACSL4, GSK3B, IL1B, IL6, IL10, LEP, MPO, TNFRSF11B, PTGER4, SAA1, SFRP4, STAT3, TNF, VEGFA, IL33, IL1RL1, ADIPOQ

C1134719

Invasive Ductal Breast Carcinoma

CLDN4, SMAD4, ATF4, SERPINB5, PTGS2, SOD2

C1136249

Mental Retardation, X-Linked

PQBP1, RAB39B, PTCHD1, AGTR2, GDI1, MAOA, ATRX, PCDH19, SLC6A8, CASK

C1136321

HIV-Associated Lipodystrophy Syndrome

LMNA

C1140680

Malignant Neoplasm Of Ovary

CTNNB1, PIK3CA, BRCA1, BRCA2, MLLT10

C1142166

Brugada Syndrome (Disorder)

TRPM4, CACNA1C, CACNA2D1, SLMAP

C1145628

Autonomic Nervous System Disorders

ECE1

C1148551

X-Linked Dyskeratosis Congenita

DKC1

C1175175

Severe Acute Respiratory Syndrome

ACE

C1176475

Ductal Carcinoma

HIF1A, SLC2A1, STAT5A

C1257806

Chromosomal Instability

KIF11, PPP2R5C

C1257915

Intestinal Polyposis

STK11

C1260899

Anemia, Diamond-Blackfan

RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS26

C1260965

Lipoblastoma

PLAG1

C1261473

Sarcoma

GSTP1, MCL1, PIK3CA, MAML3, SMARCA4, TNF, TP53

C1261502

Finding Of Mean Corpuscular Hemoglobin

TIMM23, RCL1, DENND4A, TMPRSS6, TYMP, MARCH8, HBA1, HFE, LUC7L, TFRC, NPRL3, CCND3

C1262477

Weight Decreased

TSC22D3, IL10, INS, LIF, POMC, CLN6, ADIPOQ

C1263846

Attention Deficit Hyperactivity Disorder

GPC6, CPLX2, TPH2, CNR1, COMT, PIWIL4, AK8, DPP6, DRD2, EMP2, ITGA11, ADGRL3, GIT1, GRM8, ITGAE, MIR99AHG, STS, MAN2A2, PTPRD

C1264039

Von Willebrand Disease, Type 1

VWF

C1264040

Von Willebrand Disease, Type 2

VWF

C1264041

Von Willebrand Disease, Type 3

VWF

C1266042

Chromophobe Renal Cell Carcinoma

FLCN, HNF1A

C1269683

Major Depressive Disorder

TPH2, CYP2D6, ITGA11, FKBP5, PDZD2, PCLO, GMPR, GNAI3, MPO, MYO10, ATP6V1B2, ENOX1, SOD2, XDH, ANKRD27

C1270972

Mild Cognitive Disorder

APP

C1272641

Systemic Arterial Pressure

CDH13, FRY, KLHL32, ARHGAP42, CSK, CNTN4, CYP17A1, DAPK1, FHIT, HECTD4, GRB10, KCNMA1, LRP2, MTHFR, NPR3, ATP2B1, CASZ1, ULK4, SYNJ2BP, SOX6, AS3MT, SIPA1L2, RPS6KA2, SLC39A8, CYB5B, CAPZA1, FOXP2, GOSR2

C1282968

Von Willebrand Disease, Type 2A

VWF

C1282971

Von Willebrand Disease, Type 2B

VWF

C1282974

Von Willebrand Disease Type 2M

VWF

C1282975

Von Willebrand Disease, Type 2N

VWF

C1285261

Fetal Nutrition Disorders

MAOA

C1301355

Myelodysplastic-Myeloproliferative Diseases

EZH2

C1301362

Lymphoma, Primary Cutaneous Anaplastic Large Cell

NPM1

C1306214

Acth-Secreting Pituitary Adenoma

GNAS, BMP4, AIP

C1306503

Congenital Exomphalos

CHRNA7, PCSK5

C1306837

Papillary Renal Cell Carcinoma

MITF

C1319853

Asthma, Aspirin-Induced

POSTN, PTGER2, PTGS2

C1321489

Torre-Muir Syndrome

MSH6, MLH1, MSH2

C1328840

Autoimmune Lymphoproliferative Syndrome

FAS, NRAS, PRKCD, CASP8

C1333990

Hereditary Nonpolyposis Colorectal Cancer

MLH3, MSH6, KRAS, EPCAM, MLH1, MSH2, PIK3CA, PMS1, RPS20, BMPR1A, TGFBR2, LRRFIP2

C1333991

Hereditary Non-Polyposis Colon Cancer Type 2

MLH1

C1383860

Cardiac Hypertrophy

COL17A1, RAF1

C1384666

Hearing Impairment

IQGAP2, TMEM200A, CPN1, CCBE1, DNMT1, ZNF25, NLGN1, MSRB3, SUMF1, SH3PXD2B, ZFP69, APOE, HEG1, RPGR, THADA, CSMD1, TLR4, UQCRH, ACVR1B, SLC33A1, TJP2

C1449563

Cardiomyopathy, Familial Idiopathic

LMNA

C1449843

Pseudohypoaldosteronism, Type I, Autosomal Recessive

SCNN1A, SCNN1G

C1449844

Pseudohypoaldosteronism, Type Ii

KLHL3, CUL3

C1449861

Micronuclei, Chromosome-Defective

RASSF1, CYP1A1, CYP2E1, EPHX1, ERCC4, GSTM1, GSTT1, HIF1A, PPP2R5C, XPA, XPC

C1450010

Plagiocephaly, Nonsynostotic

FGFR2

C1450051

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

LMNA

C1456784

Paranoia

HSD3B2, ICE2, MANEA

C1456865

Ureteral Calculi

GSR, GSTP1

C1458155

Mammary Neoplasms

TANK, CDH5, OCLN, ADAM10, HNRNPR, CDKN1B, TUBB3, NDRG1, GPNMB, FST, NCOA2, CENPF, CFL1, HPSE, UBE2C, DEPP, CHEK1, CLIC1, COMT, PPARGC1B, CLDN4, CPT1A, PARP1, CSF1R, CTNNB1, CYP1A1, CYP1B1, CYP2D6, CYP3A4, CYP17A1, CYP19A1, DDIT3, DHFR, NQO1, DNMT1, DNMT3B, DPYD, JAG1, E2F1, EEF1B2, EEF2, EFNA1, EGFR, AHR, ELK3, ENO1, EP300, EPHB4, EPOR, ERBB2, ERBB3, AKT1, AKT2, ESR1, ESR2, ESRRA, ETS2, EZH2, FASN, EFEMP1, RNF182, ALDOA, FGFR1, FGFR2, DKK1, FOXM1, EPB41L3, FLNA, FN1, COTL1, HEY1, FOS, CADM1, SLC39A6, PHGDH, HEYL, CLUL1, TOX3, GNAI2, GPI, GPER1, GPX1, GPX4, MRPS28, CXCL2, GSTP1, HIST1H1C, H2AFX, HADHB, NRG1, HHEX, HIF1A, HMMR, HMOX1, HNRNPL, HP, HES1, HSPA1B, BIRC5, HSP90AA1, IGBP1, IGF1, IGF1R, IGFBP5, IGFBP7, APRT, IL1B, IL6, CXCL8, AR, EIF6, JUN, AREG, KIT, KRAS, KRT8, KRT18, STMN1, LDHB, LEP, LEPR, ARHGDIA, LOXL2, LSP1, MIR132, MAL, MDM2, MDM4, MEIS1, MFGE8, MIF, MKI67, MME, MMP1, MMP2, MMP9, MMP14, ABCC1, MT3, MTHFR, MTR, NQO2, NOS3, NOTCH1, NOTCH2, NRCAM, YBX1, SLC22A18, PAEP, ITSN2, FOXP3, EVL, PDGFA, PGR, PHB, SERPINB5, PIK3CA, PLA2G4A, DLL4, MAP2K7, KLK10, EMSY, PTEN, PTGS1, PTGS2, PTHLH, ARRDC3, PTPRD, BARD1, BAX, RAD51, RAD51C, RAF1, RB1, RBM3, LGR6, BCL2, RECQL, RELA, RGS2, RPL23A, RPL31, RPS6, RPS7, RPS8, RRAD, RXRB, CCL20, CXCL12, SFRP1, SFRP5, SHMT1, SIM1, BMP2, SLC2A1, SLC2A5, BMP4, SLC5A5, BMPR2, SNAI2, SOD2, SPP1, BRCA1, BRCA2, STAT3, STAT5A, AURKA, ZEB1, NR2F1, TFRC, TGM2, THBS1, C1QBP, TLE3, TNF, TOP2A, TP53, TYMS, UMPS, VDR, VEGFB, VEGFC, VIM, WHSC1, WT1, DAP3, FTO, TFPI2, CUL5, SLC2A10, NCOA3, NRIP1, HIST1H2BC, CASP8, BCAR3, RAD54L, RSPO3, HIST1H2BK, CAV1, STC2, NCOA1, TNFSF10, SYNJ2, ACVR1, PRC1, CLDN1, EXO1, REPS2, MTDH, THEMIS2, ADAMTS1, APOBEC3B, NCOR1, CD74, STARD8, MRPL19, RB1CC1, ZEB2, ZC3H11A, MED12

C1510455

Acrocephalosyndactylia

FGFR2, TWIST1

C1510460

Orofaciodigital Syndrome I

OFD1

C1510502

Oxyphilic Adenoma

KRT7

C1522378

Leukemia, Large Granular Lymphocytic

STAT5B

C1527249

Colorectal Cancer

POLD3, CTNNB1, GREM1, ZMIZ1-AS1 , LAMC1, COLCA1, SMAD7, LIMA1, PIK3CA, MYNN, SLC22A3, TCF7L2, TGFB1, MYRF, BICC1, CCND2

C1527284

Dental Pulp Stone

DSPP

C1527311

Brain Edema

MYL9, MMP9, MYLK, PLAU, S100B, TNF

C1527336

Sjogren'S Syndrome

IRAK1BP1, FCGR2A, GTF2I, IL12A, ITSN2, PHIP, TNFAIP3, PTTG1

C1527338

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

CST3

C1527348

Brain Hypoxia

ITPR1, ITPR2

C1527405

Erythrocytosis

HBB

C1540912

Hypereosinophilic Syndrome

PDGFRA, FIP1L1

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

C1568248

Usher Syndrome, Type Iii

HARS

C1619692

Nephrogenic Fibrosing Dermopathy

COL1A1, ACTA2, CCL8