| Coxsackie virus sensitivity. CXB3S |
| Ataxia, cerebellar, Cayman type. ATCAY |
| Cyclic hematopoiesis. ELANE |
| Convulsions, familial febrile. FEB2 |
| Fucosyltransferase-6 deficiency. FUT6 |
| Guanidinoacetate methyltransferase deficiency. GAMT |
| Hypocalciuric hypercalcemia, type II. GNA11 |
| Muscular dystrophy. MDDGC5 |
| Leukemia, myeloid / lymphoid or mixed-lineage. AML |
| Hirschsprung disease. HSCR7 |
| Wegener granulomatosis autoantigen. PRTN3 |
| Peutz-Jeghers syndrome. PJS |
| Bleeding disorder. BDPTL11 |
| Leukemia, acute lymphoblastic. LYL1 |
| Persistent Mullerian duct syndrome, type 1. PMDS |
| Atherosclerosis, susceptibility to. ATHS |
| Mucolipidosis. ML4 |
| Malaria, cerebral, susceptibility. ICAM1 |
| Glutaricaciduria. GA1 |
| Sicca syndrome. SLS |
| Leprechaunism. INSR |
| Glioblastoma. GLTSCR2 |
| Rabson-Mendenhall syndrome. INSR |
| Thyroid carcinoma, nonmedullary. TCO1 |
| Diabetes mellitus, insulin-resistant. INSR |
| Low density lipoprotein receptor. LDLR |
| Ichthyosis. ARCI5 |
| Hypercholesterolemia, familial. FHCL1 |
| Leukemia, T-cell acute lymphoblastoid. LYL1 |
| Arteriopathy, cerebral. CADASIL1 |
| Mycobacterial and salmonella infections, susceptibility. NRAMP1 |
| Pseudoachondroplasia. COMP |
| Eye color, green / blue. EYCL1 |
| Epiphyseal dysplasia, multiple. EDM1 |
| Hemiplegic migraine, familial. FHM |
| Severe combined immunodeficiency disease. SCID |
| Episodic ataxia, type 2. EA2 |
| Hair color, brown. SHEP |
| Ataxia, spinocerebellar and cerebellar. SCA6 |
| Leigh syndrome. LS |
Leukemia, acute myeloid.
AML |
| MHC class II deficiency. MHC2D2 |
| Mannosidosis, alpha, types I and II. MANSA |
| Exostoses, multiple, type 3. EXT3 |
| Alzheimer disease, late onset. AD2 |
| Benign familial infantile convulsions. BFSI1 |
| Glomerulosclerosis, focal segmental. FSGS1 |
| Leukemia / lymphoma, B-cell. BCL3 |
| Deafness, autosomal dominant. DFNA4A |
| Spondylocostal dysostisis, autosomal recessive. SCDO1 |
| Hypercalcemia, familial benign, Oklahoma type, type III. HHC3 |
Prostate-specific antigen.
HPCQTL19 |
| Orofacial cleft. OFC3 |
| Spastic paraplegia antigen. C19ORF12 |
| Charcot-Leyden crystal protein. CLC |
| Cystinuria, types II and III. CSNU |
| Hemolytic anemia. GPI |
| Nephrosis, congenital, Finnish type. NPHS1 |
| Hydrops fetalis. CDAN4 |
| Generalized epilepsy with febrile seizures plus. GEFSP1 |
| Malignant hyperthermia susceptibility. MHS |
| Ovarian carcinoma. CEACAM19 |
| Central core disease. CCD |
| Microcephaly, autosomal recessive. MCPH2 |
| Osteodysplasia, polycystic lipomembranous. PLOSL |
| Hyperlipoproteinemia, type Ib and III. APOE |
| Maple syrup urine disease, type 1a. MSUD1A |
| Myocardial infarction susceptibility. ATHS |
| Camurati-Engelmann disease. CAEND |
| Cytochrome P450 (coumarin resistance). CYP2A6 |
| Myotonic dystrophy. DM1 |
| Nicotine addiction, protection from. CYP2A6 |
| Heart block, progressive familial, type 1. PFHB1B |
| X-ray repair. XRCC1 |
| Optic atrophy. OPA3 |
| Excision repair. ERCC1 |
| 3-methylglutaconicaciduria, type III. MGCA3 |
| Xeroderma pigmentosum, group D. XPD |
| Cystic fibrosis modifier. CFM1 |
| Trichothiodystrophy. TTD1 |
| Meconium ileus in cystic fibrosis, susceptibility to. CFM1 |
| DNA ligase I deficiency. LIG1 |
| Osteodysplasia, polycystic lipomembranous. PLOSL |
| Polio virus receptor. PVR |
| Herpes virus entry mediator. HVEML |
| Glutaricaciduria, type IIB. GA2B |
| Leber congenital amaurosis. LCA7 |
| Colorectal cancer. CRC |
| Retinitis pigmentosa, late-onset dominant. RP78 |
| Leukemia, T-cell acute lymphoblastic. LYL1 |
| Diabetes mellitus, noninsulin-dependent. INSR |
| Shaw-related subfamily genes. KCNC3 |
| Hyperferritinemia-cataract syndrome. HHCS |
| Melanoma inhibitory activity. MIA |
| Retinitis pigmentosa, autosomal dominant. RP11 |
| Cardiomyopathy, familial hypertrophic. CMH7 |
| Ectrodactyly, ectodermal dysplasia, cleft lip / palate. EEC |
