| Alopecia areata | GLYCOGEN STORAGE DISEASE Ia; GSD1A |
| Intracranial aneurysm | GLYCOGEN STORAGE DISEASE II; GSD2 |
| Rheumatoid arthritis | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 |
| Chronic bronchitis and chronic obstructive pulmonary disease | HERMANSKY-PUDLAK SYNDROME 3; HPS3 |
| Breast cancer GWAS | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME |
| Breast Cancer: pathogenic SNP carrier | ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED |
| Ovarian cancer in BRCA1 mutation carriers | JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 |
| Prostate cancer | JOUBERT SYNDROME 14; JBTS14 |
| Prostate cancer aggressiveness | JOUBERT SYNDROME 16; JBTS16 |
| Prostate cancer (early onset) | JOUBERT SYNDROME 3; JBTS3 |
| Bladder cancer | JOUBERT SYNDROME 5; JBTS5 |
| Upper aerodigestive tract cancers | JOUBERT SYNDROME 7; JBTS7 |
| Basal cell carcinoma | JOUBERT SYNDROME 8; JBTS8 |
| Motion sickness | JOUBERT SYNDROME 9; JBTS9 |
| Primary biliary cirrhosis | KABUKI SYNDROME 1; KABUK1 |
| Age-related macular degeneration | LEIGH SYNDROME; LS |
| Conduct disorder | LEOPARD SYNDROME 1; LPRD1 |
| Type 1 diabetes | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
| Type 1 diabetes nephropathy | LISSENCEPHALY 1; LIS1 |
| Type 2 diabetes | LOEYS-DIETZ SYNDROME 2; LDS2 |
| Endometriosis | LONG QT SYNDROME 1; LQT1 |
| Celiac disease | LYNCH SYNDROME I |
| Alzheimer’s disease (late onset) | MAPLE SYRUP URINE DISEASE; MSUD |
| Coronary heart disease | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 |
| Parkinson’s disease | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 |
| Multiple sclerosis | MECKEL SYNDROME, TYPE 3; MKS3 |
| Systemic sclerosis | MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH |
| Schizophrenia | METACHROMATIC LEUKODYSTROPHY; MLD |
| Glioma | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE |
| Hypothyroidism | METHYLMALONIC ACIDURIA, cblA TYPE |
| Myocardial infarction (early onset) | METHYLMALONIC ACIDURIA, cblB TYPE |
| Chronic lymphocytic leukemia | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 |
| Hodgkin’s lymphoma | MUCOPOLYSACCHARIDOSIS TYPE VI; MPS6 |
| Diffuse large B cell lymphoma | MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 |
| Follicular lymphoma | MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A |
| Myasthenia gravis | MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
| Multiple myeloma | MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A |
| Neuroblastoma | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 |
| Osteosarcoma | MYOPATHY, MYOFIBRILLAR, 1; MFM1 |
| Psoriasis | MYOPATHY, CENTRONUCLEAR, 1; CNM1 |
| Allergic sensitization | MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX |
| Testicular germ cell tumor | NEMALINE MYOPATHY 2; NEM2 |
| Wilms tumor | CYSTINOSIS, NEPHROPATHIC; CTNS |
| Vitiligo | NIEMANN-PICK DISEASE, TYPE C1; NPC1 |
| 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY | NIEMANN-PICK DISEASE, TYPE A |
| 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D | NIEMANN-PICK DISEASE, TYPE B |
| AARSKOG-SCOTT SYNDROME; AAS | NOONAN SYNDROME 1; NS1 |
| ACHROMATOPSIA 2; ACHM2 | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL |
| LEUKEMIA, ACUTE MYELOID; AML | NOONAN SYNDROME 4; NS4 |
| ADRENOLEUKODYSTROPHY; ALD | Obesity due to melanocortin 4 receptor deficiency |
| HYPOPHOSPHATASIA, ADULT | ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B |
| ALLAN-HERNDON-DUDLEY SYNDROME; AHDS | OSTEOGENESIS IMPERFECTA, TYPE III; OI3 |
| ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
| AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | PITT-HOPKINS SYNDROME; PTHS |
| ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP |
| ANGELMAN SYNDROME; AS | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 |
| ANTITHROMBIN III DEFICIENCY; AT3D | RETINITIS PIGMENTOSA; RP |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 |
| AURICULOCONDYLAR SYNDROME 1; ARCND1 | SOTOS SYNDROME 1; SOTOS1 |
| HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR | SUPRAVALVULAR AORTIC STENOSIS; SVAS |
| BARDET-BIEDL SYNDROME 1; BBS1 | TAY-SACHS DISEASE; TSD |
| MUSCULAR DYSTROPHY, BECKER TYPE; BMD | TUBEROUS SCLEROSIS 1; TSC1 |
| BETA-THALASSEMIA | TUBEROUS SCLEROSIS 2; TSC2 |
| BLOOM SYNDROME; BLM | ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
| BRUGADA SYNDROME 1; BRGDA1 | TYROSINEMIA, TYPE I; TYRSN1 |
| CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 | USHER SYNDROME, TYPE I; USH1 |
| CARDIOMYOPATHY, DILATED, 1S; CMD1S | USHER SYNDROME, TYPE ID; USH1D |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | USHER SYNDROME, TYPE IF; USH1F |
| CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 | USHER SYNDROME, TYPE IIA; USH2A |
| CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 | USHER SYNDROME, TYPE IIC; USH2C |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | USHER SYNDROME, TYPE IID; USH2D |
| CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 | USHER SYNDROME, TYPE IIIA; USH3A |
| GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
| ADRENAL HYPOPLASIA, CONGENITAL; AHC | VON HIPPEL-LINDAU SYNDROME; VHL |
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C | WEAVER SYNDROME; WVS |
| CORNELIA DE LANGE SYNDROME 1; CDLS1 | Wilson Disease |
| COSTELLO SYNDROME; CSTLO | AGAMMAGLOBULINEMIA, X-LINKED; XLA |
| CYSTIC FIBROSIS; CF | |
| DANON DISEASE | |
| DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | |
| DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 | |
| DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 | |
| DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 | |
| MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA | |
| CARDIOMYOPATHY, DILATED, 1A; CMD1A | |
| DUBIN-JOHNSON SYNDROME; DJS | |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 | |
| MYOCLONIC EPILEPSY OF LAFORA | |
| ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2 | |
| FABRY DISEASE | |
| FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 | |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 | |
| FAMILIAL MEDITERRANEAN FEVER; FMF | |
| THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC | |
| FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO | |
| NEPHROTIC SYNDROME, TYPE 1; NPHS1 | |
| GAUCHER DISEASE, TYPE I | |
| GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 | |
| GLUTARIC ACIDEMIA I; GA1 | |
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | |
