C0086439

Hypokinesia

APOD, OPRL1

C0086445

Idiopathic Membranous Glomerulonephritis

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

C0086533

Leiomyoma, Epithelioid

COL4A6

C0086543

Cataract

CRYAB, AKR1B1, MIP, ATP2B1, NDRG2, VIM, SLC4A4, SLC33A1

C0086647

Mucopolysaccharidosis Type Iiia

SGSH, GNPTAB

C0086648

Mps Iii B

NAGLU

C0086649

Mps Iii C

HGSNAT

C0086650

Mps Iii D

GNS

C0086651

Mucopolysaccharidosis, Mps-Iv-A

GALNS

C0087012

Ataxia, Spinocerebellar

FOXC1, CIC, ATXN1, RBM17

C0149521

Pancreatitis, Chronic

CFTR, PRSS1, SPINK1

C0149649

Cholesterol Embolism

PLAT, PLAU

C0149654

Conduct Disorder

C1QTNF7

C0149721

Left Ventricular Hypertrophy

CKB, COL1A1, COL3A1, ADRB3, ACE, AGT, HBEGF, AGTR2, EDN1, AHR, FN1, GAA, MYC, PPP3CA, STK11, GDF15

C0149745

Oral Ulcer

EDN1, LEP

C0149925

Small Cell Carcinoma Of Lung

NDRG1, RASSF8, CKB, TMEM132D, COL4A2, CREBBP, EGFR, LYRM9, EP300, FGFR1, DIP2C, GRM8, ID2, INSM1, KIT, ASCL1, PLSCR4, PTEN, RB1, SMARCA4, TP53, KHSRP, SLIT2, CDYL, RIMS2, BCLAF1

C0149931

Migraine Disorders

EDNRA, ESR1, MEF2D, MRPL37, CNNM2, TGFB1, TGFBR2, TNF, SUV39H2, WASL

C0150055

Chronic Pain

SCN9A

C0151491

Congenital Musculoskeletal Anomalies

TMCO1, SKI, TGFB2

C0151516

Thyroid Hypoplasia

PAX8

C0151526

Premature Birth

EDN1, IL6, MBL2, MMP9, PTGS2, SOD2

C0151636

Premature Ventricular Contractions

NOS3

C0151699

Intracranial Hemorrhages

PLAT, PLAU

C0151744

Myocardial Ischemia

CDH2, CEBPD, PDLIM5, CTSC, RALBP1, TMED2, CIRBP, MAP3K8, COX5B, CPT1B, CRP, MAPK14, ADRB1, ADRB2, DCN, AES, DLAT, AGT, DUSP1, DUSP6, EDN1, EGR2, RAB12, ENSA, AK1, F2RL1, FABP5, FGF2, ALDOA, MAPRE1, CES3, GATM, GBP2, GHR, GK, GCLC, GNA12, RGCC, CXCL2, GSTA1, GSTM2, GSTP1, HGF, HIVEP2, HK1, HMGB1, HMOX1, NR4A1, HSPA1A, APLP2, ICAM1, ID1, ID3, IFNGR1, IGF1, IGFBP3, IL1A, IL1B, IL6, IL6ST, IRF1, JAK2, JUNB, AREG, ARNTL, KITLG, ALDH6A1, NOS3, P4HB, PEBP1, PDHA1, PDK4, PFKFB3, PGM1, PLA2G2A, POMC, PPAT, PPM1B, PSMB5, PYGB, RAB5A, ACTB, GAS5, RPL17, RYR2, CCL2, CCL3, CCL4, SELE, SLC6A6, SOD2, SPARC, STAT5A, ZEB1, TFRC, TMPO, TNF, TXNRD1, UGCG, UQCRFS1, VCAM1, VEGFA, ZFP36, TUBA1A, RAB7A, CALR, CAMK2D, RAB1B, CANX, BHLHE40, SNAP23, CCND2, SOCS3, KLF4, ADIPOQ, CD36, GDF15, PRDX6

C0151786

Muscle Weakness

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, IL10RB, MIR155, NCAM2, PMP22, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SON, TIAM1, TTC3, TTN, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, MYOT, ADAMTS1, CRYZL1

C0151827

Eye Pain

POMC

C0152020

Gastroparesis

HMOX1

C0152025

Polyneuropathy

SCP2

C0152101

Hypoplastic Left Heart Syndrome

GJA1

C0152200

Achromatopsia

ATF6, RPGR

C0152426

Craniorachischisis

DACT1

C0152427

Polydactyly

KIF3A, GLI3, PTEN

C0153452

Malignant Neoplasm Of Gallbladder

CNTN4

C0153594

Malignant Neoplasm Of Testis

KIT, KITLG, STK11, BCL10

C0154251

Lipid Metabolism Disorders

HADHB

C0154723

Migraine With Aura

VSTM4, NEDD4L

C0154832

Exudative Retinopathy

CRB1, NDP

C0155017

Color Blindness, Blue

OPN1SW

C0155862

Streptococcal Pneumonia

MASP2, CXCL8, MAPK1, MAPK3

C0158266

Intervertebral Disc Degeneration

GPC6, PARK2, CSMD1, SPARC, TGFB1

C0162283

Nephrogenic Diabetes Insipidus

AQP2, AVPR2, PRKCA

C0162309

Adrenoleukodystrophy

HMOX1, SOD2

C0162311

Androgenetic Alopecia

HDAC9

C0162316

Iron Deficiency Anemia

TMPRSS6, SLC11A2, TFRC

C0162429

Malnutrition

MTHFR, MTR, CBS

C0162526

Aids-Related Opportunistic Infections

CD4

C0162531

Hereditary Coproporphyria

CPOX

C0162533

Porphyrias, Hepatic

ALAD

C0162534

Prion Diseases

PRNP

C0162557

Liver Failure, Acute

GPNMB, FST, ALB, GC, GFER, HGF, FAS, IL1RN, INHBA, INS, KRT8, KRT18, SERPINC1, POMC, MAPK8, TNF, CAST, CD74

C0162566

Porphyria Cutanea Tarda

CPOX, HFE, UROD

C0162568

Erythropoietic Protoporphyria

EREG, AREG, BTC

C0162569

Hepatoerythropoietic Porphyria

UROD

C0162666

Mitochondrial Encephalomyopathies

FARS2, NDUFS2, NDUFV2, MFF, C12orf65

C0162670

Mitochondrial Myopathies

IL1A, IL1B, IL6, TNF

C0162671

Melas Syndrome

IL1A, IL1B, NDUFS1, SOD2

C0162672

Merrf Syndrome

IL1A, IL1B

C0162674

Chronic Progressive External Ophthalmoplegia

IL1A, IL1B, POLG, SOD2

C0162677

Caliciviridae Infections

FUT2

C0162770

Right Ventricular Hypertrophy

TGFA

C0162809

Kallmann Syndrome

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

C0162819

Skin Diseases, Vascular

F2

C0162820

Dermatitis, Allergic Contact

NAMPT, PRDX4, CTSC, FGL2, RAB32, CREM, CYP1A1, ETS2, F13A1, FCGR3B, PHLDA1, ABCA6, FYB, QPCT, IPCEF1, CXCL2, HSD11B1, IL1A, IL10, ITGAM, MXD1, MEOX1, MRC1, CNTN3, PLAT, BCL2, SAT1, SELE, ST6GAL1, SLC2A3, BMP6, SPP1, STAC, TNF, TNFAIP6, UPP1, ASRGL1, SLC7A5, CASP8, KMO, SOCS1, SOCS2, TMSB10, IL32, CD36

C0162823

Dermatitis, Irritant

CBR1

C0162834

Hyperpigmentation

RPL27A

C0162835

Hypopigmentation Disorder

GLI3, EPG5

C0162848

Lichenoid Eruptions

IL6, CXCL8

C0162871

Aortic Aneurysm, Abdominal

AGT, AGTR1, LDLR, MMP9, MMP14, PTGS2, SOD2

C0162872

Aortic Aneurysm, Thoracic

FBN1, MMP2, MMP9, ACTA2, TGFB2, TGFBR2

C0175683

Citrullinemia

ASS1

C0175693

Russell-Silver Syndrome

H19, IGF2, FOXP2

C0175694

Smith-Lemli-Opitz Syndrome

DHCR7

C0175699

Saethre-Chotzen Syndrome

FGFR2, TWIST1

C0175702

Williams Syndrome

DLG4, TBL2, GTF2I, RFC2, CLIP2, BAZ1B

C0175704

Leopard Syndrome

PTEN, PTPN11, RAF1

C0205710

Alpers Syndrome (Disorder)

POLG

C0205711

Pelizaeus-Merzbacher Disease

LMNB1, PLP1

C0205713

Roussy-Levy Syndrome (Disorder)

PMP22

C0205730

Hereditary Opalescent Dentin (Disorder)

DSPP

C0205770

Choroid Plexus Papilloma

TP53

C0205824

Liposarcoma, Dedifferentiated

CDK4, MDM2, HMGA2

C0206042

Fatal Familial Insomnia

PRNP

C0206062

Lung Diseases, Interstitial

FAM13A, COPA, DSP, MAPT, CSMD1, DEPTOR, SOD2, OBFC1

C0206064

Microvascular Angina

MTHFR

C0206081

Hyperandrogenism

BMPR2

C0206093

Neuroectodermal Tumors

MYC

C0206115

Wagr Syndrome

BDNF, WT1

C0206146

Myocardial Stunning

ATP2A2, PLN, TNF

C0206160

Reticulocytosis

SOD2

C0206180

Ki-1+ Anaplastic Large Cell Lymphoma

HSP90AA1, STAT3, TWIST1

C0206182

Lymphomatoid Papulosis

NPM1

C0206245

Amyloid Neuropathies, Familial

TTR

C0206368

Exfoliation Syndrome

LOXL1

C0206617

Cardiovirus Infections

TNF

C0206624

Hepatoblastoma

CTNNB1, APC, IGF2, PCNA, TGFA, TP53

C0206630

Endometrial Stromal Sarcoma

JAZF1, SUZ12, YWHAE

C0206634

Liposarcoma, Myxoid

DDIT3, FUS

C0206637

Chondrosarcoma, Mesenchymal

IL1A, CD99, MKI67, PDGFRA, BCL2

C0206638

Giant Cell Tumor Of Bone

H3F3A

C0206646

Fibromatosis, Abdominal

APC