C0000768

Congenital Abnormality

SLC31A1, FMR1, FOLR1, NOTCH1, KLF4

C0000786

Spontaneous Abortion

CRISP3, FST, IFI44, SPAG5, COL1A1, COL1A2, COL4A6, COL5A1, COL5A2, COL6A1, COL6A3, COL13A1, CYP1A1, DHFR, ECM2, AGTR1, EMP1, FGF7, MAPRE3, FN1, FLRT3, FETUB, GLS, HSD17B1, IGF1, APOE, IGF2, IGFBP1, IGFBP3, IGFBP6, IL1B, IL5RA, IL6, IL11, INHA, ITGB4, JAK2, LAMA4, LGALS3, LIF, ARNT, MAP2, MGAT2, MGP, MMP11, MMP15, MMP19, MUC4, NCAM1, PAEP, ACKR4, PGF, PCDHA3, PRLR, MMP26, KLK10, PTGIS, PTHLH, RBP4, SERPINB3, SERPINB4, TFRC, TGFB1, TGFBI, TGFBR1, TIMP2, TIMP3, TNR, TRAF1, CSRNP3, TNFSF13, TNFSF10, CD164, CD163, CD68

C0000809

Abortion, Habitual

F5

C0000821

Threatened Abortion

PIBF1

C0000832

Abruptio Placentae

MTHFD1, NOS3

C0001125

Acidosis, Lactic

PDHA1, PLAT

C0001126

Renal Tubular Acidosis

SLC4A4

C0001144

Acne Vulgaris

UBE2E1

C0001175

Acquired Immunodeficiency Syndrome

HCP5, ZNRD1, PPP1R11

C0001193

Apert Syndrome

FGFR2

C0001197

Acrodermatitis

SLC39A4

C0001206

Acromegaly

GH1, GNAS, IGF1, AIP

C0001231

ACTH Syndrome, Ectopic

POMC

C0001349

Acute-Phase Reaction

ANG

C0001364

Massive Hepatic Necrosis

PRKDC

C0001418

Adenocarcinoma

CDKN1C, RASSF1, CKB, CTGF, CTNNB1, CYP2A6, CYP2E1, CYP19A1, CYP26A1, DAPK1, ACE, DNMT1, EEF2, EGFR, ENO1, ERBB2, ESR1, ESR2, EFEMP1, FGF9, GPX3, PYCARD, HOXA10, APC, HSPD1, APOA1, ID3, APOE, IL1B, CXCL8, KRAS, KRT8, MET, MKI67, MMP14, MPP1, NFKB1, NOS3, PAWR, PCNA, GHRL, PGAM1, PGR, PHB, SERPINA1, PIK3CA, PLAU, PPARG, PRKD1, PRL, AZGP1, PTEN, PTGS2, KMT2C, BCL2, SMARCC1, SOD2, SPP1, STAT3, STAT5A, STK11, TCF7L2, TGFB1, TNF, TP53, TPM3, CA2, DDR1, NCOA3, ARID1A, CASP8, RUNX3, SELENBP1

C0001430

Adenoma

CTNNB1, CYP1B1, SUZ12, ALOX5, GJA1, APC, IGF1, KRAS, TRPM7, PRL, PTMA, BCL2, SEPP1, SLC19A1, TP53, TXNRD1, AIP

C0001546

Adjustment Disorders

HDAC5

C0001614

Adrenal Cortex Diseases

POMC

C0001621

Adrenal Gland Diseases

CGA

C0001623

Adrenal Gland Hypofunction

CYP11A1

C0001624

Adrenal Gland Neoplasms

CTNNB1, GNAS, GNRH1, GNRHR, PRKACA, PTGS2, RB1, TP53, CDC42

C0001627

Congenital Adrenal Hyperplasia

CYP17A1, CYP21A2, HSD3B2, AVPR2, PRKAR1A, PDE8B

C0001733

Afibrinogenemia

FGA, FGB, CFI

C0001768

Agammaglobulinemia

LRRC8A

C0001815

Primary Myelofibrosis

SH2B3, EZH2, JAK2, CALR

C0001824

Agranulocytosis

NQO2

C0001828

Agricultural Workers' Diseases

PON1

C0001883

Airway Obstruction

PLAT, PTGFR, TFPI

C0001925

Albuminuria

ACE, AGT, GNAQ, PYCARD, IL6, INS, LEPR, MIR155, PTGS2, SOD2, TNF, CASP1

C0001973

Alcoholic Intoxication, Chronic

MBNL2, GPHN, CHRNA5, ADH1B, COMT, CYP2E1, ALDH2, FSHB, GABBR1, GATA4, GHSR, UTP20, SERINC2, LHB, NPY2R, RCBTB1, SHBG, SNCA, TF

C0002063

Alkalosis

AGT

C0002066

Alkaptonuria

HGD

C0002170

Alopecia

PARP1, BRD4, AR, MTHFR, SRD5A2, SUPV3L1, VDR, ZFP36

C0002171

Alopecia Areata

IKZF4, ULBP3

C0002312

Alpha-Thalassemia

HBA1, HBB

C0002382

Alveolar Bone Loss

ALPL, TNFSF11

C0002390

Extrinsic Allergic Alveolitis

SOD2

C0002395

Alzheimer'S Disease

GPC6, SPON1, TOMM40, CELF2, CHRNA7, OSBPL1A, CLU, TPP1, NDUFAF6, CR1, CST3, CTNNA2, NKAIN2, CYP2D6, AP2A2, ACE, DMXL1, BMPER, DHCR24, DPYSL2, EIF2S1, A2M, ENO1, ESR1, F2, PRRC2C, ARC, NCS1, MTHFD1L, AMFR, PDE7B, BIN1, BZW2, GSK3B, HFE, HMOX1, APBB2, APOC1, IDE, IGF1, APOE, IGF1R, IGF2, IGF2R, APP, IL1B, INS, INPP5D, INSR, LEP, MAOB, MAPT, MPO, MTHFR, NOS3, MS4A4A, PLAU, CYCS, PPARG, FRMD4A, PRNP, PSEN1, PSEN2, FMN2, CASS4, ARHGAP20, BAX, BCL2, EXOC4, BDNF, BLMH, CSMD1, LINC01184, SLC2A4, SOD2, SORL1, TF, TFAM, TNF, TPI1, VEGFA, PPP1R3B, SAP30L, ANKRD55, PICALM, MEGF10, SPPL2A, CRADD, SQSTM1, CACNA1G, MPZL1, CD33, SLC4A8, ELMO1

C0002452

Amelogenesis Imperfecta

FAM83H, LTBP3

C0002453

Amenorrhea

CPB2, CYP17A1, CYP19A1, FSHB, PRL

C0002514

Amino Acid Metabolism, Inborn Errors

AHCY, GCLC, ALDH6A1, EIF2AK4, PRODH, XPC, SECISBP2, SLC7A7

C0002622

Amnesia

SIGMAR1, HRH3, GNAI1, GNAI3, APP, IL1A, IL6, NGF, POMC, PREP, TRH

C0002624

Retrograde Amnesia

PREP

C0002726

Amyloidosis

APOE, APP, PSEN1, TTR

C0002736

Amyotrophic Lateral Sclerosis

OPTN, SIGMAR1, OLFM4, PPARGC1A, ARAP2, METTL21A, DCTN1, DPP6, CENPV, C9orf72, ERBB4, KIFAP3, TARDBP, FUS, TNFRSF21, ANG, ANK3, TBK1, GSR, GSTP1, HNRNPA1, HOXD10, ITGA9, LAMA3, CHCHD10, NEFH, PFN1, PLA2G4A, PON1, PTGS2, ST3GAL3, SLC1A2, SLC6A1, SOD2, TIAM1, TP53, VCP, SLC25A12, INPP4B, SQSTM1, ARHGEF2, VAPB, B4GALT6, CD40LG, KIAA0513, MATR3

C0002768

Congenital Pain Insensitivity

NGF, NTRK1, SCN9A

C0002792

Anaphylaxis

KNG1

C0002793

Anaplasia

HIF1A

C0002871

Anemia

SLC46A1, PARP1, AGT, GSR, SLC40A1, HP, IGF2, MTHFR, SLC25A37, PRL, PTH, HAMP, SOD2, TNF, TYMS

C0002874

Aplastic Anemia

NBN

C0002878

Anemia, Hemolytic

G6PD, GCLC, GPI, GSR, HBB, HMOX1, TPI1

C0002880

Autoimmune Hemolytic Anemia

SLC14A1

C0002882

Anemia, Hemolytic, Congenital Nonspherocytic

G6PD, TPI1

C0002888

Anemia, Megaloblastic

DHFR, MAOB

C0002893

Refractory Anemias

TNF

C0002895

Anemia, Sickle Cell

DHODH, HBB, HP, NPPB, BCL11A, TNF, UMPS, VCAM1, CAD, NPRL3

C0002896

Sideroblastic Anemia

SOD2, GDF15

C0002902

Anencephaly

MTHFR

C0002938

Aneuploidy

KIF11

C0002940

Aneurysm

MMP1

C0002949

Aneurysm, Dissecting

COL1A1, AGT, SMAD3, TGFBR1, TGFBR2

C0002962

Angina Pectoris

PLAU

C0002965

Angina, Unstable

CXCL8, PAPPA, PLAU

C0002994

Angioedema

IFT43, ALB, HLA-DQB1, HLA-DRB1, PLAT

C0003076

Aniridia

ELP4

C0003081

Anisometropia

PTEN

C0003090

Ankylosis

FGFR2

C0003123

Anorexia

IL1B, IL1RN, TNF, CCK

C0003125

Anorexia Nervosa

BDNF

C0003128

Anovulation

NR5A2

C0003130

Anoxia

ALDH1L1, SARDH, AHCY, EGR1, GAPDH, GNAS, APOA1, ACADVL, MPO, ATF4, NME1, NOS3, PCK2, PLAT, POMC, ACTB, RPS2, RPS14, BDNF, SOD2, TFPI, TKT

C0003165

Anthracosis

IL1A, IL1B, IL1RN, TNF

C0003431

Antisocial Personality Disorder

MAOA

C0003460

Anuria

AGT, ALB, PLAU

C0003466

Anus, Imperforate

PCSK5

C0003469

Anxiety Disorders

CHRNA5, CNR1, CRP, DNMT1, DRD2, FOS, GLO1, GNB1, GRM8, HTR7, APP, MDK, MIF, NPY1R, PAM, SERPINA1, TNF, CARTPT, MFAP3L

C0003486

Aortic Aneurysm

AGT, SMAD3, MMP9, SKI, TGFBR2

C0003493

Aortic Diseases

LAMC1, MMP2, MMP9, SOD2

C0003496

Aortic Rupture

FBN1, MMP2, MMP9, VKORC1

C0003504

Aortic Valve Insufficiency

FSTL1, COL1A1, COL3A1, CTGF, FN1, LOX, NPPB, TGFB1, TGFB2, TIMP1

C0003537

Aphasia

PLAT

C0003615

Appendicitis

IL10

C0003635

Apraxias

FOXP2

C0003706

Arachnodactyly

FBN1, FZD4

C0003756

Arenaviridae Infections

TFRC

C0003803

Arnold Chiari Malformation

ERF

C0003811

Cardiac Arrhythmia

SGOL1, ACE, AGT, EDN1, ESR2, GJA1, ANK2, KCNH2, KNG1, OPRL1, CNNM2, PPP1R1A, PTGS2, TRH, CACNA1C

C0003838

Arterial Occlusive Diseases

PLAT, PLAU

C0003850

Arteriosclerosis

GSTA4, APOE, NOS3, SERPINA1, KL

C0003857

Congenital Arteriovenous Malformation

RASA1

C0003860

Arteritis

CYP1A1, PON1

C0003862

Arthralgia

MVK

C0003864

Arthritis

COPA, REEP3, JMJD1C, HP, TIMMDC1, ZFP36, VTCN1

C0003868

Arthritis, Gouty

POMC

C0003869

Arthritis, Infectious

TNF

C0003872

Arthritis, Psoriatic

TRAF3IP2, HLA-C, CXCL8, NR4A2, REL, BMP4, TNF, RUNX2, CD68

C0003873

Rheumatoid Arthritis

ABCC5, CDK6, ABCC4, TXNIP, B3GNT2, PHTF1, OS9, TAGAP, CRP, HAPLN1, CTGF, CTSD, CLYBL, DHFR, ACAN, DPP4, RCAN1, AHR, ENO1, F2, RTKN2, FCGR2A, JAZF1, FKBP5, PLCL2, TNPO3, PADI4, ALOX5, PHF19, GART, PTPN22, GC, RGMB, GRK6, CXCL2, HCLS1, ANXA3, HLA-DQA2, HLA-DRB1, HOXD10, HSD11B1, IGFBP3, CYR61, IL1B, IL1RN, IL6, IL6R, IL6ST, CXCL8, IL10, IL18, IRAK1, ITGA6, AFF3, LCN2, MARCKS, STS, MIF, MMP2, MMP10, MPO, MTF1, MTHFR, NCF2, NFKBIL1, TNFRSF11B, FOXP3, CD244, PON1, POU3F1, DDIT4, PXK, PRKCQ, BAIAP2L1, PTGS2, PTK2, PTPN2, PTPRC, RAP2A, REL, BGN, CCL8, CXCL6, BMP4, BMP6, SLC11A1, SOD2, SUOX, TLE3, TLR2, TMPO, TNF, TNFAIP2, TNFAIP3, TRAF1, VEGFA, CXCR4, DDA1, MMEL1, ANKRD55, TFPI2, CALD1, NR4A3, ST6GALNAC5, GDF5, ARID5B, MGARP, B3GNT9, PPIL4, CAV2, RUNX2, SLC25A12, RUNX1, GGH, C5orf30, GPRC5A, RABEP1, CD83, LHX2, ADIPOQ, CD28, FADS2

C0003949

Asbestosis

DDIT3, ATF6, GSTT1, HSPA5, SERPINA1

C0003962

Ascites

CHRM3