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Table 6 Selected Human-Mouse Phenotype Overlap

From: Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

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; ...