C1621920

Intermediate Maple Syrup Urine Disease

PPM1K, DBT, BCKDHA, BCKDHB

C1691228

Cystic Kidney Diseases

SDCCAG8, INS

C1704299

Hypobetalipoproteinemia, Familial, Apolipoprotein B

APOB

C1704417

Hyperlipoproteinemia Type Iib

APOB

C1704423

Milroy Disease

FLT4, VEGFC

C1704429

Hypoalphalipoproteinemia, Familial

ABCA1, APOA1

C1704436

Peripheral Arterial Diseases

OSBPL10

C1706595

Pachyonychia Congenita, Jadassohn Lewandowsky Type

KRT16

C1708349

Hereditary Diffuse Gastric Cancer

CTNNA1

C1720821

Membranoproliferative Glomerulonephritis, Type Iii

CFH

C1720824

Sudden Cardiac Arrest

ZNF385B, ESR1, ARL5B, KCTD1, ATF1, MAML2, AP1G2

C1720859

Familial Partial Lipodystrophy, Type 1

LMNA

C1720860

Familial Partial Lipodystrophy, Type 2

LMNA

C1720861

Familial Partial Lipodystrophy, Type 3

PPARG

C1720864

Sulfatidosis, Juvenile, Austin Type

SUMF1

C1720887

Female Urogenital Diseases

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

C1720958

Hyper-Igm Immunodeficiency Syndrome, Type 5

UNG

C1720965

Ectodermal Dysplasia 3, Anhidrotic

EDARADD

C1721005

Leukokeratosis, Hereditary Mucosal

KRT13

C1721006

Keratoderma, Palmoplantar, Epidermolytic

KRT1, KRT9, KRT16

C1721007

Pachyonychia Congenita, Type 2 (Disorder)

KRT17

C1800706

Idiopathic Pulmonary Fibrosis

FAM13A, DSP, PARN, PLAU, TOLLIP, SFTPC, OBFC1

C1802395

Congenital Muscular Hypertrophy-Cerebral Syndrome

SMC1A

C1833340

Synostotic Posterior Plagiocephaly

ERF

C1836373

Muscular Dystrophy, Limb-Girdle, Type 2K

POMT1

C1836635

Loeys-Dietz Aortic Aneurysm Syndrome

TGFBR1

C1838244

Tibial Muscular Dystrophy, Tardive

TTN

C1839259

Bulbo-Spinal Atrophy, X-Linked

AR

C1845168

Hypophosphatemic Rickets, X-Linked Recessive

CLCN5

C1846545

Autoimmune Lymphoproliferative Syndrome Type 2B

CASP8

C1848201

Subcortical Band Heterotopia

EML1

C1848213

Periventricular Heterotopia, X-Linked

FLNA

C1853099

Cornelia De Lange Syndrome 3

SMC3

C1857761

Alagille Syndrome 2

NOTCH2

C1858991

Childhood Ataxia With Central Nervous System Hypomyelinization

EIF2B1, EIF2B4, EIF2B3, EIF2B5

C1861172

Venous Thromboembolism

NEBL, PROCR, AK4, F2, F5, EFEMP1, FGA, FGF14, FGG, ZFPM2, NME7, SERPINC1, PLAT, BRWD1, SLC44A2, TNF, YEATS4, RAB11FIP3

C1861922

Campomelic Dysplasia

SOX9

C1861923

Acampomelic Campomelic Dysplasia

SOX9

C1862892

Hereditary Angioedema Type Ii

SERPING1

C1864100

Pseudohypoparathyroidism, Type Ib

GNAS

C1866398

Proteus-Like Syndrome (Disorder)

PTEN

C1866504

Photosensitive Trichothiodystrophy

MPLKIP, ERCC2

C1867983

Porencephaly, Familial

COL4A2

C1868675

Parkinson Disease 2, Autosomal Recessive Juvenile

PARK2

C1868720

Periventricular Nodular Heterotopia

ARFGEF2, FLNA

C1869114

Weill-Marchesani Syndrome, Autosomal Recessive

ADAMTS10

C1869115

Weill-Marchesani Syndrome, Autosomal Dominant

FBN1

C1879526

Aberrant Crypt Foci

CTNNB1, GCG, APC

C1955869

Malformations Of Cortical Development

AKT3, DYNC1H1, NDST1, TUBB2B, KIF5C, PIK3CA, TUBG1

C1955870

Classical Lissencephalies And Subcortical Band Heterotopias

MNT, YWHAE

C1955906

Lymphoma, Extranodal Nk-T-Cell

CFLAR

C1955934

Trichothiodystrophy Syndromes

MPLKIP, ERCC2

C1956097

Wolf-Hirschhorn Syndrome

LETM1, WHSC1

C1956125

Alagille Syndrome 1

JAG1

C1956346

Coronary Artery Disease

SH2B3, TRIB1, CDKN2B, ADAMTS7, APOA5, CRP, ACE, ESR1, ESR2, ANKS1A, DDAH2, PCSK9, GNB3, HECTD4, HMOX1, APCS, APOC3, IRAK1, IRS1, LDLR, LIPA, LPL, NOS3, NPPB, ATP2B1, PAPPA, PON1, CNNM2, WDR12, PTGS2, CCL2, CXCL12, ABCG8, SLC22A3, SMARCA4, TCF21, TLR4, VEGFA, PDGFD, PLPP3, KL, GDF15, CD40LG

C1956391

Temporal Arteritis

PTPN22

C1959582

Pten Hamartoma Tumor Syndrome

PTEN

C1959620

Dihydropyrimidine Dehydrogenase Deficiency

DPYD

C1959626

Mevalonic Aciduria

MVK

C1961099

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

IL7R, LMO2, CNOT3, NOTCH1, PTPN2, BAX, RPL5, RPL10, TAL1, BCL10

C1961102

Precursor Cell Lymphoblastic Leukemia Lymphoma

CDK6, IKZF1, CYP1B1, NQO1, EPHX1, P2RY8, HLF, IDH1, ARNT, MTHFR, PIP4K2A, PAG1, RB1, BCR, SLC19A1, TCF3, TP53, WHSC1, CASP8, ARID5B, RUNX1

C1968689

Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

DOCK8

C1969342

Pulmonary Hypertension, Primary, Dexfenfluramine-Associated

BMPR2

C1969343

Pulmonary Hypertension, Primary, Fenfluramine-Associated

BMPR2

C2239176

Liver Carcinoma

MICA, CDH13, CDKN1B, CDKN3, FST, ATP5H, CEBPB, CEBPD, UBD, HTATIP2, IQGAP2, ERP29, THEM4, JDP2, COMT, CRP, CTNNB1, CTSD, CYLD, CYP1A1, CYP2E1, CYP17A1, ACE, AKR1C2, DPYD, E2F1, EGFR, A2M, ENO1, EPHX1, ESR1, F2, FABP5, ACSL4, FASN, FBP1, FDFT1, FOXM1, KIF1B, FOS, GAPDH, SFN, PYCARD, PDIA3, GSTM1, GSTP1, ANXA4, HGF, HMGB2, HMGCR, APC, APCS, HSD3B2, HSPA5, HSPB1, BIRC5, APOA1, IDH1, IGBP1, IGF1R, IGF2, IGF2R, CYR61, IL6, CXCL8, IRS1, AR, JUN, KRAS, LETM1, MET, MMP2, MMP9, MPO, MT2A, MVK, MYC, NME1, ACO2, ACOX1, PCK1, PDGFB, PGD, PGK1, PHB, SERPINA1, PIK3CA, PKM, PPARG, PPP1R1A, PTGS2, PTK2, ARID1B, MTUS1, KMT2C, RAC1, RB1, ACTB, RPS6, RRM1, RRM2, SCD, CCL3, BID, CXCL12, HHIP, SKP2, SLC2A1, SLC5A5, SOD2, SREBF1, SREBF2, TALDO1, PRDX2, TGFA, TGFB1, TH, TP53, TYMS, UCHL1, UMPS, NR1H2, VCAM1, ZNF23, CA2, BTG2, TFPI2, CD276, ARID1A, AXIN1, TATDN1, TAGLN2, CASP8, NR0B2, IRS2, PNPT1, CBR1, TNFSF10, IQGAP1, CCNA1, SOCS3, USP2, SLIT2, ADAMTS1, GDF15, PRDX6, KMT2B, FGF19, NR1H4

C2267227

Bulimia Nervosa

CHODL, BDNF

C2316212

Cryopyrin-Associated Periodic Syndromes

MME

C2350233

Antley-Bixler Syndrome Phenotype

FGFR2

C2584774

Congenital Hypofibrinogenemia

FGA, FGB, FGG

C2607914

Allergic Rhinitis (Disorder)

ABCA1, LAMA3, RBFOX1, FTO, ENTPD6

C2607929

Carney Complex, Type 1

PRKAR1A

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

C2678439

Cranioosteoarthropathy

HPGD

C2697932

Loeys-Dietz Syndrome

SMAD3, TGFB2, TGFBR1, TGFBR2

C2700553

Omenn Syndrome

ADA, IL7R, CHD7, RAG1, DCLRE1C

C2713347

7-Dehydrocholesterol Reductase Deficiency

DHCR7

C2713442

Polyposis, Adenomatous Intestinal

APC

C2717836

Steroid Sulfatase Deficiency Disease

STS

C2717905

Hereditary Angioedema Types I And Ii

SERPING1, C1S

C2717906

Hereditary Angioedema Type I

SERPING1

C2717961

Thrombotic Microangiopathies

VEGFA

C2745948

Hyalinosis, Systemic

ANTXR2

C2745963

Kashin-Beck Disease

ITPR2

C2748895

Ovotesticular Disorders Of Sex Development

SOX9

C2751306

Polycystic Kidney Disease, Type 2

PKD2

C2751824

46, Xy Disorders Of Sex Development

CYP11A1, LHCGR

C2919945

Cavernous Hemangioma Of Brain

KRIT1

C2931196

Craniofacial Dysostosis Type 1

ERF, FGFR2

C2931618

Gestational Trophoblastic Disease

POU5F1

C2931735

Epidermolytic Palmoplantar Keratoderma Vorner Type

KRT1, KRT9, KRT16

C2931788

Atypical Hemolytic Uremic Syndrome

CFH, CFHR1, CFI, CD46, CFB, C3

C2931833

Hyperinsulinemic Hypoglycemia, Familial, 2

KCNJ11

C2936346

22Q11 Deletion Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C2936349

Plaque, Amyloid

APP, MAOB

C2936350

Plaque, Atherosclerotic

PARP1, APOE, BSG

C2936380

Neointima

AGT, MMP2, MMP9

C2936403

46, Xx Disorders Of Sex Development

NR3C1

C2936419

46, Xx Testicular Disorders Of Sex Development

SOX9

C2936694

Swyer Syndrome

NR0B1, DHH, SOX9

C2936739

Hyper-Immunoglobulin E Syndrome, Autosomal Dominant

STAT3