omimdefinitions

| Malignant melanoma, somatic, 155600 (3)
| Endometrial carcinoma, somatic, 608089 (3)
| Squamous cell carcinoma, head and neck, somatic, 275355 (3)
| Dubin-Johnson syndrome, 237500 (3)
| Alzheimer disease 6, 104300 (2)
| Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 (3)
| Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
| Corneal dystrophy, Thiel-Behnke type (2)
| Cocoon syndrome, 613630 (3)
| * 603646 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15| COX15
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
| * 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9| CYP2C9
| Warfarin sensitivity, 122700 (3)
| Spastic paraplegia 64, 615683 (3)
| Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)
| Epilepsy, familial temporal lobe, 1, 600512 (3)
| Immunodeficiency, common variable, 10, 615577 (3)
| Cone dystrophy 4, 613093 (3)
| * 191840 PLASMINOGEN ACTIVATOR, URINARY| PLAU
| Quebec platelet disorder, 601709 (3)
| Retinol dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3)
| Split-hand/foot malformation 3, gene duplication syndrome (4)
| * 607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF| SUFU
| {Meningioma, familial, susceptibility to}, 607174 (3)
| Basal cell nevus syndrome, 109400 (3)
| [Resting heart rate], 607276 (3)
| {Congestive heart failure and beta-blocker response, modifier of} (3)
| Orofaciodigital syndrome IV, 258860 (3)
| Joubert syndrome 18, 614815 (3)
| * 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6| TNFRSF6
| Squamous cell carcinoma, burn scar-related, somatic (3)
| Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
| Mephenytoin poor metabolizer, 609535 (3)
| * 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19| CYP2C19
| Proguanil poor metabolizer, 609535 (3)
| Clopidogrel, impaired responsiveness to, 609535 (3)
| Charcot-Marie-Tooth disease, dominant intermediate A (2)
| Aspartate aminotransferase, serum level of, QTL1, 614419 (3)
| Carboxypeptidase N deficiency, 212070 (3)
| Hyperoxaluria, primary, type III, 613616 (3)
| Spastic paraplegia 33, autosomal dominant, 610244 (3)
| Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
| * 113811 COLLAGEN, TYPE XVII, ALPHA-1| COL17A1
| 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
| * 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1| CYP17A1
| Spastic paraplegia 45, 613162 (3)
| * 612971 PDZ DOMAIN-CONTAINING 7| PDZD7
| Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
| Papillorenal syndrome, 120330 (3)
| * 167409 PAIRED BOX GENE 2| PAX2
| Spastic paraplegia 45, autosomal recessive (2)
| Hermansky-Pudlak syndrome 6, 614075 (3)
| Ectodermal dysplasia 5, hair/nail type (2)
| Hypomagnesemia 6, renal, 613882 (3)
| Cornelia de Lange syndrome 3, 610759 (3)
| {Diabetes mellitus, insulin-dependent, 17} (2)
| * 600020 MAX-INTERACTING PROTEIN 1| MXI1
| {Prostate cancer, susceptibility to}, 176807 (3)
| * 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3| PITX3
| Cataract 11, multiple types, 610623 (3)
| Cataract 11, syndromic, 610623 (3)
| Noonan-like syndrome with loose anagen hair, 607721 (3)
| 2-methylbutyrylglycinuria, 610006 (3)
| Epilepsy, idiopathic generalized, susceptibility to 4 (2)
| * 603924 HYALURONAN-BINDING PROTEIN 2| HABP2
| {Venous thromboembolism, susceptibility to}, 188050 (3)
| Cardiomyopathy, dilated, 1DD, 613172 (3)
| * 614316 VTI1, S. CEREVISIAE, HOMOLOG OF, A| VTI1A
| Myopathy, myofibrillar, 6, 612954 (3)
| Cardiomyopathy, dilated, 1HH, 613881 (3)
| Porphyria, congenital erythropoietic, 263700 (3)
| {Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
| * 602228 TRANSCRIPTION FACTOR 7-LIKE 2| TCF7L2
| {Macular degeneration, age-related, 7}, 610149 (3)
| * 602194 HTRA SERINE PEPTIDASE 1| HTRA1
| CARASIL syndrome, 600142 (3)
| * 607772 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1|
| Cone-rod dystrophy 17 (2)
| Chromosome 10q26 deletion syndrome (4)
| {Endometriosis, susceptibility to, 1} (2)
| Crouzon syndrome, 123500 (3)
| * 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2| FGFR2
| Beare-Stevenson cutis gyrata syndrome, 123790 (3)
| Pfeiffer syndrome, 101600 (3)
| Apert syndrome, 101200 (3)
| Saethre-Chotzen syndrome, 101400 (3)
| Craniosynostosis, nonspecific (3)
| Gastric cancer, somatic, 613659 (3)
| Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
| Scaphocephaly and Axenfeld-Rieger anomaly (3)
| LADD syndrome, 149730 (3)
| Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
| Bent bone dysplasia syndrome, 614592 (3)
| Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
| [Respiratory rhythmicity in sleep] (2)
| Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
| * 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF| EMX2
| Pancreatic lipase deficiency, 614338 (1)
| Microphthalmia, syndromic 11, 614402 (3)

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