omimdefinitions

| * 276000 PROTEASE, SERINE, 1| PRSS1
| Trypsinogen deficiency, 614044 (1)
| * 601564 PROTEASE, SERINE, 2| PRSS2
| Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
| {Autism susceptibility 15}, 612100 (3)
| * 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2| CNTNAP2
| Pigment dispersion syndrome (2)
| Long QT syndrome 2, 613688 (3)
| * 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2| KCNH2
| Short QT syndrome 1, 609620 (3)
| {Specific language impairment 4} (2)
| Acropectoral syndrome (2)
| Alzheimer disease-10, 104300 (2)
| {Autism, susceptibility to, 10} (2)
| [Fetal hemoglobin QTL5] (2)
| Acheiropody, 200500 (3)
| Polydactyly, preaxial type II, 174500 (3)
| * 605522 LIMB REGION 1, MOUSE, HOMOLOG OF| LMBR1
| Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
| Syndactyly, type IV, 186200 (3)
| Currarino syndrome, 176450 (3)
| {Coronary artery spasm 1, susceptibility to} (3)
| {Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
| {Hypertension, susceptibility to}, 145500 (3)
| {Hypertension, pregnancy-induced}, 189800 (3)
| {Placental abruption} (3)
| {Ischemic stroke, susceptibility to}, 601367 (3)
| * 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1| PAXIP1
| Wolff-Parkinson-White syndrome, 194200 (3)
| Cardiomyopathy, familial hypertrophic 6, 600858 (3)
| Glycogen storage disease of heart, lethal congenital, 261740 (3)
| Holoprosencephaly-3, 142945 (3)
| Single median maxillary central incisor, 147250 (3)
| Microphthalmia with coloboma 5, 611638 (3)
| * 600725 SONIC HEDGEHOG| SHH
| Glaucoma 1, open angle, F, 603383 (3)
| Ventricular fibrillation, paroxysmal familial, 2, 612956 (3)
| Muscular dystrophy, limb-girdle, type 1E, 603511 (3)
| Schizophrenia 16 (4)
| Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
| {Autoimmune disease, susceptibility to, 2} (2)
| Diamond-Blackfan anemia 2 (2)
| Hernia, congenital diaphragmatic 2 (2)
| * 605352 MALIGNANT FIBROUS HISTIOCYTOMA-AMPLIFIED SEQUENCE 1| MFHAS1
| {Systemic lupus erythematosus, susceptibility to, 12} (2)
| [Acetylation, slow], 243400 (3)
| Atrial septal defect 2, 607941 (3)
| Ventricular septal defect 1, 614429 (3)
| Atrioventricular septal defect 4, 614430 (3)
| ?Testicular anomalies with or without congenital heart disease, 615542 (3)
| Slowed nerve conduction velocity, AD, 608236 (3)
| Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3)
| Microcephaly 1, primary, autosomal recessive, 251200 (3)
| Myopia 10 (2)
| Occult macular dystrophy, 613587 (3)
| Waardenburg syndrome, type 2C (2)
| Maturity-onset diabetes of the young, type 11, 613375 (3)
| Keratolytic winter erythema (2)
| Epilepsy, generalized, with febrile seizures plus, type 6 (2)
| Spastic paraplegia 53, autosomal recessive, 614898 (3)
| Aneurysm, intracranial berry, 11 (2)
| {Coronary heart disease, susceptibility to, 9} (2)
| Lipoprotein lipase deficiency, 238600 (3)
| Combined hyperlipidemia, familial, 144250 (3)
| [High density lipoprotein cholesterol level QTL 11] (3)
| * 606551 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 1| LZTS1
| * 153622 MACROPHAGE SCAVENGER RECEPTOR| MSR1
| Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
| Mental retardation, autosomal recessive 7, 611093 (3)
| Farber lipogranulomatosis, 228000 (3)
| Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
| Deafness, autosomal recessive 71 (2)
| * 604258 DELETED IN LIVER CANCER 1| DLC1
| ?Renal hypodysplasia/aplasia 2, 615721 (3)
| * 600299 PERICENTRIOLAR MATERIAL 1| PCM1
| * 604584 PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE| PDGFRL
| Colorectal cancer, somatic, 114500 (3)
| Squamous cell carcinoma, head and neck, 275355 (3)
| Myopathy, distal 3 (2)
| {?Schizophrenia, susceptibility to}, 603013 (1)
| Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)
| Alopecia universalis, 203655 (3)
| Atrichia with papular lesions, 209500 (3)
| Hypotrichosis 4, 146550 (3)
| Roberts syndrome, 268300 (3)
| SC phocomelia syndrome, 269000 (3)
| Hemolytic anemia due to glutathione reductase deficiency (1)
| Scurvy (3)
| Spastic paraplegia 37, autosomal dominant (2)
| Osteogenesis imperfecta, type XIII, 614856 (3)
| Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
| Trichilemmal cyst 1 (2)
| Charcot-Marie-Tooth disease, type 2E, 607684 (3)
| Charcot-Marie-Tooth disease, type 1F, 607734 (3)
| * 611770 NK2, DROSOPHILA, HOMOLOG OF, 6| NKX2-6
| Conotruncal heart malformations, 217095 (3)
| {Schizophrenia}, 181500 (2)
| Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
| * 132811 EPOXIDE HYDROLASE 2, CYTOSOLIC| EPHX2

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