Mouse Gene Sym | Human Gene Sym | Human Gene ID # | Human Disease MeshTerm | Mouse Phenotype Term |
---|---|---|---|---|
Npc1l1 | NPC1L1 | 29881 | Hypercholesterolemia(1) | abnormal circulating LDL cholesterol level; decreased circulating HDL cholesterol level; abnormal triglyceride level; abnormal lipid homeostasis; ... |
Nkx2-5 | NKX2-5 | 1482 | Heart Defects, Congenital(1), Heart Block(1) | abnormal heart development; abnormal looping morphogenesis; abnormal heart tube morphology; abnormal heart shape; thin ventricular wall; ... |
Oprm1 | OPRM1 | 4988 | Alcoholism(9), Substance-Related Disorders(5), Heroin Dependence(2), Pain, Postoperative(2), Epilepsy, Generalized(1), Substance Withdrawal Syndrome(1), Cocaine-Related Disorders(1), Diabetes Mellitus, Type 2(1), Kidney Failure, Chronic(1), Pain(1), Ischemia(1), Opioid-Related Disorders(1), Postoperative Nausea and Vomiting(1) | abnormal response to addictive substance; preference for addictive substance; abnormal touch/nociception; abnormal pain threshold; decreased chemically-elicited antinociception; sensitivity to addictive substance; excitatory postsyn. potential; resistance to addictive substance; altered response to anesthetics; ... |
Homer1 | HOMER1 | 9456 | Cocaine-Related Disorders(1) | cocaine preference; abnormal conditioning behavior; abnormal response to addictive substance; nervous system phenotype; abnormal nervous system physiology; behavior/neurological phenotype, ... |
Insl3 | INSL3 | 3640 | Cryptorchidism(3), Abnormalities, Multiple(1), Hypospadias(1), Gonadal Dysgenesis(1), Infertility, Male(1), Testicular Diseases(1) | abnormal male reproductive anatomy; small testis; abnormal spermatogenesis; behavior/neurological phenotype; male infertility; female infertility; abnormal estrous cycle; abnormal gametogenesis; decreased germ cell number; cryptorchism; ... |
Stat6 | STAT6 | 6778 | Asthma(3), Hypersensitivity(3), Dermatitis, Atopic(2), Anaphylaxis(2), Nut Hypersensitivity(1), Nephrotic Syndrome(1), Infertility(1), Hypersensitivity, Immediate(1), Graves Disease(1), Endometriosis(1), ... | abnormal humoral immune response; decreased IgM level; decreased IgA level; decreased susceptibility to viral infection; decreased IgE level; increased IgG level; increased IgA level; abnormal interleukin physiology; abnormal interferon physiology; abnormal CD8-positive T cell morphology; ... |
En2 | EN2 | 2020 | Autistic Disorder(1), Asperger Syndrome(1) | abnormal social investigation; abnormal spatial learning; abnormal social/conspecific interaction; abnormal cerebellum morphology; abnormal cerebellar foliation; abnormal vermis morphology; abnormal cerebellar granule layer; abnormal colliculi morphology; hyperactivity; impaired coordination; abnormal grooming behavior; ... |
Hsd11b1 | HSD11B1 | 3290 | Diabetes Mellitus, Type 2(2), Obesity(2), Hypertension(2), Insulin Resistance(2), Polycystic Ovary Syndrome(1), Hyperandrogenism(1) | abnormal abdominal fat pads; abnormal circulating cholesterol level; decreased circulating LDL cholesterol level; enlarged adrenal glands; increased circulating HDL cholesterol level; abnormal glucose homeostasis; decreased circulating triglyceride level; abnormal corticosterone level; improved glucose tolerance; ... |
Msh3 | MSH3 | 4437 | Lung Neoplasms(1), Head and Neck Neoplasms(1), Colonic Neoplasms(1), Carcinoma, Squamous Cell(1), Carcinoma, Small Cell(1) | tumorigenesis; increased tumor incidence; premature death; life span-post-weaning/aging |
Crb1 | CRB1 | 23418 | Optic Atrophies, Hereditary(1), Blindness(1) | abnormal retinal photoreceptor morphology; abnormal retina morphology; retinal degeneration; decreased retinal photoreceptor cell number; photosensitivity; abnormal ocular fundus morphology; nervous system phenotype; abnormal retinal photoreceptor layer; abnormal photoreceptor inner segment morph; ... |
Chrna7 | CHRNA7 | 1139 | Schizophrenia(3), Auditory Perceptual Disorders(1), Memory Disorders(1) | pharmacologically induced seizures; decreased anxiety-related response; abnormal spatial learning; abnormal hippocampus function; abnormal tumor necrosis factor physiology; homeostasis/metabolism phenotype |
Inha | INHA | 3623 | Ovarian Failure, Premature(2), Amenorrhea(1) | kyphoscoliosis; abnormal liver morphology; abnormal ovarian follicle morphology; enlarged testes; abnormal spermatogenesis; increased circulating follicle stimulating hormone; male infertility; female infertility; tumorigenesis; ovary hemorrhage; cachexia; diffuse hepatic necrosis; pancytopenia; liver/biliary system phenotype; ... |
Slc6a3 | SLC6A3 | 6531 | Attention Deficit Disorder w/Hyp.(7), Tobacco Use Disorder(3), Schizophrenia(2), Alcohol Withdrawal Delirium(2), Eating Disorders(1), Substance Withdrawal Syndrome(1), Stress Disorders, Post-Traumatic(1), Child Behavior Disorders(1), Bulimia(1), Alcoholism(1), | abnormal maternal nurturing; hyperactivity; hypoactivity; impaired coordination; increased exploration in new environment; decreased exploration in new environment; abnormal spatial learning; abnormal pituitary secretion; abnormal lactation; increased dopamine level; cocaine preference; ... |
Cyp11b2 | CYP11B2 | 1585 | Hypertension(18), Cardiovascular Diseases(2), Ventricular Dysfunction, Left(2), Cardiomyopathy, Dilated(2), Arteriosclerosis(1), Acromegaly(1), Fibrosis(1), Arthritis, Rheumatoid(1), Polycystic Ovary Syndrome(1), Metabolic Syndrome X(1), | decreased body size; hypotension; increased circulating corticosterone level; decreased circulating aldosterone level; decreased circulating chloride level; increased circulating renin level; abnormal enzyme/coenzyme level; lethality-postnatal; homeostasis/metabolism phenotype; growth/size phenotype; ... |
Ptpn22 | PTPN22 | 26191 | Arthritis, Rheumatoid(11), Diabetes Mellitus, Type 1(9), Lupus Erythematosus, Systemic(5), Arthritis, Psoriatic(2), Autoimmune Diseases(2), Arthritis, Juvenile Rheumatoid(2), Nephritis(1), Multiple Sclerosis(1), Asthma(1), Cholangitis, Sclerosing(1), | enlarged spleen; enlarged lymph nodes; abnormal Peyer's patch germinal center morph; abnormal T cell physiology; increased IgE level; increased B cell number; immune system phenotype; hematopoietic system phenotype; increased follicular B cell number; increased spleen germinal center number; increased IgG1 level; increased IgG2a level; ... |