Modules | Phenotypes | Disorders |
---|---|---|
Cardiac 8 genes -Ras association (RalGDS/AF-6) domain family member 1 (cardiac hypertrophy [58, 59]) -solute carrier family 22 (organic cation/carnitine transporter), member 5 (primary carnitine deficiency [75]) -cysteine-rich, angiogenic inducer, 61 (prostate cancer [76]) -tropomodulin 1 -transmembrane protein 38A -eukaryotic translation initiation factor 2-alpha kinase 1 -snail homolog 1 (Drosophila) (colon cancer [47]) -interleukin 1 receptor antagonist (coronary artery disease [77], autoinflammatory disease [54]) | -cardiac hypertrophy -dilated dorsal aorta -abnormal mitral valve morphology -abnormal cardiac output -abnormal myocardial fiber physiology -enlarged heart -abnormal outflow tract -abnormal coronary artery morphology | -mitral valve dysplasia -tricuspid valve dysplasia -ventricular septal defects -atrial septal defects -dynamic subaortic stenosis -hypertrophic cardiomyopathy -restrictive cardiomyopathy -unclassified cardiomyopathy |
Development 7 genes -TGFB-induced factor homeobox 2 -thioredoxin (Alzheimer's disease [78]) -E binding protein 1 -potassium inwardly-rectifying channel, subfamily J, member 1 (Andersen-Tawil syndrome [79], short QT syndrome [80]) -retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (Leber's congenital amaurosis [81]) -arginine vasopressin receptor 1A -peptidylprolyl cis/trans isomerase, NIMA-interacting 1 (Alzheimer's disease [82]) | -abnormal mesoderm development -abnormal proximal/distal developmental patterning -abnormal rostral/caudal developmental patterning -embryonic growth arrest -abnormal trophoblast layer morphology -abnormal white adipose tissue -decreased renal glomerular filtration rate -decreased cholesterol levels -decreased triglycerides, -abnormal intestine morphology -post natal growth retardation -retinal neuronal layer morphology -abnormal retinal apoptosis -abnormal circulating corticosterone level -abnormal adrenal gland morphology -decreased primordial germ cell number -seminiferous tubule degeneration | -tubular disease -chronic kidney disease -amyloidosis -membranous glomerulopathies -polycystic kidney disease |
Immune and Hematopoietic 9 Genes -tumor protein D52-like 2 (childhood leukemia [83]) -fragile histidine triad gene (breast cancer [50], inflammatory bowel disease [84]) -tetraspanin 33 -beclin 1, autophagy related (Alzheimer's disease [51], colorectal cancer [56], glioblastoma multiforme [55]) -uracil-DNA glycosylase (hyper-IgM syndrome [57]) -solute carrier family 35, member C1 (leukocyte adhesion deficiency II [85]) -linker for activation of T cell -bridging integrator 3 -interleukin 1 receptor antagonist (coronary artery disease [77], autoinflammatory disease [54]) | -abnormal macrophage physiology -abnormal hematopoiesis -abnormal T-cell proliferation -abnormal B-cell proliferation -increased susceptibility to infection -decreased granulocyte number -abnormal erythrocyte morphology -decreased hematocrit -decreased platelet number -abnormal immune system biology -increased spleen germinal cell number -increased spleen germinal size -abnormal class switch recombination -abnormal somatic hypermutation frequency -lymphoid hyperplasia -abnormal lymph node primary follicle -abnormal leukocyte adhesion -abnormal cytokine secretion -abnormal interferon secretion -increased IgE levels -increased IgG1 levels -increased IgM levels - increased interferon gamma secretion - increased interleukin 10 secretion - increased interleukin 4 secretion - enlarged spleen - liver inflammation - abnormal chemokine secretion - abnormal macrophage recruitment - increased susceptibility to endotoxin shock - chronic inflammation, - increased interleukin 1beta secretion - increased interleukin 17 secretion - increased interleukin 6 secretion | -Heinz bodies -pyruvate kinase deficiency -porphyria -lymphocytic cholangitis -neutrophilic cholangitis |
Energy, Nutrition and Homeostasis 6 Genes -phosphatidylserine synthase 2 -glycerol kinase 2 -NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18 kDa (NADH-coenzyme Q reductase) (Leigh syndrome [49]) -NAD(P)H dehydrogenase, quinone 1 (childhood acute lymphoblastic leukemia [41]) -solute carrier family 22 (organic cation/carnitine transporter), member 5 (primary carnitine deficiency [75])-syntaxin 4 | -abnormal phospholipid level -increased circulating follicle stimulating hormone -decreased circulating glucose level -increased fatty acid level -abnormal body weight -decreased body temperature -decreased oxygen consumption -abnormal gluconeogenesis -abnormal liver morphology -decreased circulating glucose -increased glucagon -insulin resistance -abnormal glucose homeostasis -decreased circulating carnitine -hypoglycemia -increased circulating ammonia level -impaired glucose tolerance -insulin resistance -increased circulating insulin level | -insulin resistance -type II diabetes melitus Congts |
Tumorigenesis 5 Genes -uracil-DNA glycosylase (hyper-IgM syndrome [57]) -caspase 9, apoptosis-related (colon cancer [42], inflammatory bowel disease [43]) -cysteine peptidase -bridging integrator 3 -beclin 1 (Alzheimer's disease [51], colorectal cancer [56], glioblastoma multiforme [55]) -Ras association (RalGDS/AF-6) domain family member 1 | -B-cell derived lymphoma -increased sensitivity to oxidative stress -increased apoptosis -decreased cellular sensitivity to gamma irradiation -increased incidence of ionizing radiation induced tumors -increased tumor incidence -malignant tumors -adenocarcinoma | -B-cell lymphoma -T-cell lymphoma -cutaneous mast cell tumors -visceral mast cell tumors -feline injection site sarcomas -squamous cell carcinoma -mammary gland tumors -meningioma |
Sensory 5 Genes -bridging integrator 3 -mal, T-cell differentiation protein (protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis [45]) -NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18 kDa (NADH-coenzyme Q reductase) (Leigh syndrome [49]) -caspase 9, apoptosis-related cysteine peptidase (colon cancer [42], inflammatory bowel disease [43]) -snail homolog 1(Drosophila) (colon cancer [47]) | -abnormal lens fiber morphology -cataracts -abnormal optic nerve nerve morphology -abnormal eye electrophysiology -hyperkplexia -abnormal vision -blindness -optic nerve atrophy -decreased startle response -abnormal olfactory epithelium morphology - abnormal Meckel's cartilage morphology | -retinal degeneration -cataracts |
Behavior, Neurological and Nervous System 12 Genes -N-ethylmaleimide-sensitive factor attachment protein, alpha -carbohydrate sulfotransferase 10 (melanoma [86]) -transmembrane protein 176B -solute carrier family 35, member C1 (leukocyte adhesion deficiency II [85]) -glycerol kinase 2 -NAD(P)H dehydrogenase, quinone 2 (Alzheimer's disease [87]) -NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18 kDa (NADH-coenzyme Q reductase) (Leigh syndrome [49]) -diablo homolog (progressive hearing loss [88], breast cancer [89]) -caspase 9, apoptosis-related cysteine peptidase (colon cancer [42], inflammatory bowel disease [43]) -RAB3B, member RAS oncogene family -snail homolog 1(Drosophila) (colon cancer [47]) -mal, T-cell differentiation protein (protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis [45]) | -abnormal motor coordination -impaired balance -impaired righting response -abnormal learning and memory -abnormal spatial learning, ataxia -abnormal maternal nurturing -abnormal posture -abnormal suckling behavior -hypoactivity -abnormal motor learning -abnormal spatial learning -abnormal spatial working memory -abnormal emotion and affect -abnormal gate -abnormal motor control -abnormal balance -abnormal vocalization -impaired coordination -abnormal nest building -abnormal stationary movement -abnormal CNS synaptic transmission -reduced long term potentiation -abnormal excitatory post synaptic potential -abnormal brain commissure morphology -abnormal brain development -abnormal embryonic neuroepithelium layer differentiation -decreased neuron apoptosis -decreased neurotransmitter release -enhanced paired-pulse facilitation -open neural tube -abnormal cerebellar granuale layer -abnormal Purkinje cell layer, small cerebellum -abnormal brain ventricle morphology -abnormal cerbral cortex morphology - abnormal forebrain morphology -abnormal hindbrain -abnormal myelination -abnormal neuron morphology -abnormal neuron physiology -astrocytosis, brain vacuoles -brainstem hemorrhage -gliosis -intercranial hemorrage | -lysosomal storage diseases -idiopathic vestibular disease -congenital unilateral vestibular disease |