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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; ...