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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; ...