C0339510

Vitelliform Macular Dystrophy

BEST1

C0339527

Leber Congenital Amaurosis

CRB1, GUCY2D, SPATA7

C0340288

Stable Angina

MMP9, TLR4, TNF

C0340375

Subaortic Stenosis

POMC

C0340543

Familial Primary Pulmonary Hypertension

HDAC5, HDAC1, HDAC4

C0341106

Eosinophilic Esophagitis

RRP1B, EMSY, SHROOM3, CCDC81, TIMP2, CAPN5, ANKRD27, PLPP3

C0342185

Hyperthyroxinemia, Familial Dysalbuminemic

ALB

C0342257

Complications Of Diabetes Mellitus

ALDH2, AKR1B1, HIF1A, HP, VEGFA

C0342488

Mineralocorticoid Excess Syndrome, Apparent

HSD11B2

C0342649

Vascular Calcification

MGP

C0342731

Deficiency Of Mevalonate Kinase

MVK

C0342853

Sialuria

GNE

C0343115

Skin Mastocytoma

KIT

C0343755

HIV Wasting Syndrome

IL1A, IL1B, IL6, TNF

C0344724

Ostium Secundum Atrial Septal Defect

CITED2, GATA4, GATA6, ACTC1

C0345408

Hereditary Clubbing

HPGD

C0346010

Multiple Fibrofolliculomas

FLCN

C0346302

Growth Hormone-Secreting Pituitary Adenoma

GH1, GNAS, PRL, SSTR5, AIP

C0346647

Malignant Neoplasm Of Pancreas

DAB2, DPP6, NR5A2, FAM19A5, LINC-PINT, BACH1, BICD1, CLPTM1L

C0349231

Phobic Anxiety Disorder

PRL

C0349464

Wernicke-Korsakoff Syndrome

TKT

C0349639

Juvenile Myelomonocytic Leukemia

SH2B3, EZH2, RRAS2, ARHGAP26, JAK3, KRAS, NRAS, PTPN11, RAC2, RRAS, RUNX1

C0349788

Arrhythmogenic Right Ventricular Dysplasia

DSC2, DSG2, DSP, KCNH2, LMNA, PKP2, TMEM43

C0376300

Dengue Shock Syndrome

MICB, RBFOX1

C0376358

Malignant Neoplasm Of Prostate

PDLIM5, FOXP4, CTBP2, CTNNB1, DNAH12, EPHB2, MARCH8, CEP152, PHLPP2, TNRC6B, ZBTB38, UPF2, GRHL1, KLK3, SHROOM2, ITGA6, AR, MDM4, MXI1, MYO6, NEDD9, POLK, PEX14, BAIAP2L1, PTEN, THADA, EBF2, SLC22A3, BRCA2, TBX1, TP53, MLPH, TRIM8, ARMC2, FARP2

C0376532

Epilepsy, Rolandic

GRIN2A

C0376545

Hematologic Neoplasms

HSPA5, PON1

C0376618

Endotoxemia

ALOX5, HSPD1, SOD2

C0376628

Chromosome Breakage

H2AFX, MYC, BRCA1

C0376634

Craniofacial Abnormalities

GPC6, ATP6AP2, DCAF7, SPRY2, KIF3A, RAB39B, COL11A1, COL11A2, HAPLN1, CSNK1A1, CTNNB1, CNTN4, DLX2, DLX5, DNMT3B, RCAN1, SLC26A2, ECE1, EDN1, EDNRA, EGFR, ERF, ETS2, GPC4, FGFR1, FGFR2, SLC35D1, FMR1, FOLR1, NIPBL, SALL3, GNAQ, GP1BB, SH3PXD2B, FAM83H, SEC61A1, ANXA1, HOXA1, HOXA3, HSPG2, NDST1, IRF6, LETM1, LMNA, LRP2, LTBP3, SMAD2, SMAD3, SMAD4, MMP2, MNT, TRIM37, NOTCH1, PDGFRA, PITX2, TMCO1, ATRX, BNC2, ANKH, PTCH1, PTEN, RAD23B, ACTB, SIM2, SKI, BMPR1A, SOX9, TBX1, TCF4, TCOF1, TGFB2, TGFBR2, ACTG1, TRPS1, UFD1L, UXS1, FZD4, PRKRA, RUNX2, FADD, ITGB1BP1, NRXN1, FOXP2

C0376670

Pancreatitis, Alcoholic

PTHLH

C0391826

Lhermitte-Duclos Disease

PTEN

C0392514

Hereditary Hemochromatosis

HFE, HAMP, TFR2

C0392525

Nephrolithiasis

DGKH

C0392622

Toxic Effect Of Carbon Tetrachloride

GFER

C0392784

Dermatofibrosarcoma Protuberans

COL1A1, PDGFB

C0393540

Childhood Progressive Bulbar Palsy

SLC52A3

C0393547

Bulbospinal Neuronopathy

AR

C0393584

Benign Hereditary Chorea

NKX2-1

C0393593

Dystonia Disorders

TOR1A, THAP1, PRKRA

C0393626

Opsoclonus-Myoclonus Syndrome

POMC

C0393665

Multiple Sclerosis, Chronic Progressive

HNRNPA1

C0394016

Coma, Post-Head Injury

TRH

C0398368

Lymphatic Abnormalities

HOXA3

C0398623

Thrombophilia

F2, F8, FGA, MTHFR

C0398689

Hyper-Igm Immunodeficiency Syndrome, Type 1

CD40LG

C0398691

Hyperimmunoglobulinemia D

MVK

C0398791

Nijmegen Breakage Syndrome

NBN

C0399352

Developmental Absence Of Tooth

LTBP3

C0399380

Dentin Dyspalsia, Shields Type 2

DSPP

C0400966

Non-Alcoholic Fatty Liver Disease

CYP17A1, ACE, F2, SAMM50, GSTA1, GSTM1, GSTP1, GSTT1, FAS, IL1A, LDLR, LEP, LIF, MMP1, PPARA, PPARD, SREBF1, TGFB1, TNFRSF1B, XBP1, PNPLA3, STC2, CD14, ADIPOQ, SCARB1

C0403447

Chronic Kidney Insufficiency

LCN2, NGF, RETN, AOC3

C0403823

Asthenozoospermia

GSTT1, PLAU

C0406702

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

EDARADD

C0406810

Carney Complex

PRKAR1A

C0410189

Muscular Dystrophy, Emery-Dreifuss

EMD, SYNE2, LMNA

C0410190

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)

SYNE2, LMNA, TMEM43

C0410203

X-Linked Centronuclear Myopathy

MAMLD1, MTM1

C0410916

Neonatal Death

FBN2, SPDL1, FAM20C, POMGNT2

C0424295

Hyperactive Behavior

DRD2, FOS, GABBR1, GCG, GIT1, HTR2C, NGF, NTRK2, NTS, TH, CCK

C0428886

Mean Blood Pressure

KAT2B

C0428977

Bradycardia

NISCH, CHRM2, ADORA1, CYP2D6, DRD2, AGT, EDN1, EDN2, GCG, GNAI2, GNRH1, KNG1, LHB, NTS, POMC, PRL, TRH

C0431362

Lobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431363

Alobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431391

Hemimegalencephaly

AKT3, PIK3CA

C0431943

Lower Extremity Deformities, Congenital

HOXD10, PCSK5

C0451641

Urolithiasis

SLC26A1, APRT

C0455988

Hydrops Fetalis, Non-Immune

DNAH14, HBA1, NEU1, GALNT14, FZD6

C0457133

Muscle Eye Brain Disease

POMT1, GMPPB, FKRP, LARGE

C0473527

Hypoalphalipoproteinemias

ABCA1, APOA1

C0476089

Endometrial Carcinoma

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

C0476254

Dyslexia

DCDC2

C0497327

Dementia

OSBPL1A, DNMT1, GRN, APP, MAPT

C0497406

Overweight

LEPR

C0497552

Congenital Neurologic Anomalies

SPRED1, HOXA1, ACTB, ACTG1

C0520459

Necrotizing Enterocolitis

HBEGF, ENO1, ALDH2, NOS3, CRYL1, SOD2, SORD, TLR4

C0520679

Sleep Apnea, Obstructive

EDNRA

C0520757

Delayed Emergence From Anesthesia

ZFAND6

C0521607

Peritoneal Fibrosis

TGFB1

C0522224

Paralysed

APP, INS, TRPM7

C0524582

Mulibrey Nanism

TRIM37

C0524620

Metabolic Syndrome X

NR1H3, TOMM40, APOA5, CRP, LOC157273, ABCA1, GALNT2, HECTD4, HMGA1, HTR2C, APOB, IL6, IL18, INS, LEP, FADS1, LPL, NOS3, PON1, RETN, TRIB3, CCL2, SHBG, TCF7L2, FTO, BUD13, ZPR1, ADIPOQ, FADS2

C0524851

Neurodegenerative Disorders

CRYAB, FTH1, GPX3, GSR, GSTM1, GSTM2, GSTM4, HMOX1, APOD, APP, IL6, MAPT, MGST1, NGF, NGFR, SERPINA1, PKD2, TTC19, PSEN1, AGPAT3, SEPP1, SNCA, SOD2, VIM, PANK2, PDE8B, KYNU, GSTO1

C0524909

Hepatitis B, Chronic

EHMT2, CTGF, HLA-C, HLA-DPA1, HLA-DQA2, HP, CFB, TCF19

C0524910

Hepatitis C, Chronic

HP

C0524948

Maxillofacial Abnormalities

MTHFR

C0524988

Schnitzler Syndrome

IL1RN

C0525041

Neurobehavioral Manifestations

CHRNA7, FKBP5, NGF

C0525045

Mood Disorders

DCTN1

C0543859

Amyotrophic Lateral Sclerosis, Guam Form

TRPM7

C0546127

Mercury Poisoning, Nervous System

JUN

C0546264

Congenital Fiber Type Disproportion

SEPN1, TPM2, TPM3, HACD1

C0546837

Malignant Neoplasm Of Esophagus

ADH1B, CSNK1A1, ALDH2, HECTD4, MUC1, PDE4D, HEATR3, PTPN2, ST6GAL1, TGFBR2, XBP1, RUNX1

C0549463

X-Linked Lymphoproliferative Disorder

XIAP

C0549473

Thyroid Carcinoma

NRG1

C0549567

Pigmentation Disorders

MITF, MPV17

C0553580

Ewings Sarcoma

EGR2, ETV1, EWSR1, CIZ1

C0553586

Cafe-Au-Lait Macules With Pulmonary Stenosis

MAP2K2

C0553730

Calcium Pyrophosphate Deposition Disease

POMC

C0553980

Endomyocardial Fibrosis

COL3A1, ADRB1, AGT, TGFB1