Basic Information Gene Taxonomy: LRRC55 UniprotID: Q6ZSA7 Mouse Homolog: Lrrc55 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: FXYD3 UniprotID: Q14802 Mouse Homolog: Fxyd3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: malignant neoplasm of pancreas 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: PKD1L2 UniprotID: Q7Z442 Mouse Homolog: Pkd1l2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Abnormality of the lens Female infertility Monogenic Disease Association: Not Detected Polygenic Disease Association: diabetic nephropathies liver cirrhosis biliary lutein platelet function tests beta carotene 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: HTR3D UniprotID: Q70Z44 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: schizophrenia 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: ASIC4 UniprotID: Q96FT7 Mouse Homolog: Asic4 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype decreased vertical activity small superior vagus ganglion hydrometra Decreased basophil count Monogenic Disease Association: Not Detected Polygenic Disease Association: platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLIC6 UniprotID: Q96NY7 Mouse Homolog: Clic6 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMC7 UniprotID: Q7Z402 Mouse Homolog: Tmc7 Pharos Link: Pharos Link Knockout Mouse Phenotype: Male infertility Female infertility Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNH8 UniprotID: Q96L42 Mouse Homolog: Kcnh8 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TTYH2 UniprotID: Q9BSA4 Mouse Homolog: Ttyh2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GPR89A UniprotID: B7ZAQ6 Mouse Homolog: Gpr89 Pharos Link: Pharos Link Knockout Mouse Phenotype: dermatitis abnormal ear lobe morphology premature death Decreased body weight Hyperkeratosis Failure to thrive Scaling skin Hypotrichosis Hypopigmentation of the skin abnormal hair follicle morphology enlarged sebaceous gland impaired skin barrier function abnormal epidermis stratum basale morphology abnormal keratinocyte morphology abnormal epidermis stratum corneum morphology abnormal skin development abnormal reproductive system development Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GLRA4 UniprotID: Q5JXX5 Mouse Homolog: Glra4 Pharos Link: Pharos Link Knockout Mouse Phenotype: Increased LDL cholesterol concentration Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCND1 UniprotID: Q9NSA2 Mouse Homolog: Kcnd1 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TTYH1 UniprotID: Q9H313 Mouse Homolog: Ttyh1 Pharos Link: Pharos Link Knockout Mouse Phenotype: embryonic growth arrest embryonic lethality before implantation complete penetrance abnormal cell nucleus morphology abnormal mitosis increased cell nucleus count Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GPR89B UniprotID: P0CG08 Mouse Homolog: Gpr89 Pharos Link: Pharos Link Knockout Mouse Phenotype: dermatitis abnormal ear lobe morphology premature death Decreased body weight Hyperkeratosis Failure to thrive Scaling skin Hypotrichosis Hypopigmentation of the skin abnormal hair follicle morphology enlarged sebaceous gland impaired skin barrier function abnormal epidermis stratum basale morphology abnormal keratinocyte morphology abnormal epidermis stratum corneum morphology abnormal skin development abnormal reproductive system development Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: FAM26E UniprotID: F7IPZ5 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: PLLP UniprotID: Q9Y342 Mouse Homolog: Pllp Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: schizophrenia 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLIC3 UniprotID: O95833 Mouse Homolog: Clic3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: FAM26D UniprotID: Q5JW98 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMC5 UniprotID: Q6UXY8 Mouse Homolog: Tmc5 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMC3 UniprotID: Q7Z5M5 Mouse Homolog: Tmc3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: forced expiratory volume platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNA6 UniprotID: P17658 Mouse Homolog: Kcna6 Pharos Link: Pharos Link Knockout Mouse Phenotype: Hypertriglyceridemia increased thermal nociceptive threshold Monogenic Disease Association: Not Detected Polygenic Disease Association: eosinophils 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMC4 UniprotID: Q7Z404 Mouse Homolog: Tmc4 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLCC1 UniprotID: Q96S66 Mouse Homolog: Clcc1 Pharos Link: Pharos Link Knockout Mouse Phenotype: brain vacuoles muscular atrophy nervous system phenotype Retinal dysplasia Neurodegeneration Cerebellar hypoplasia Skeletal muscle atrophy Ataxia abnormal embryo size preweaning lethality complete penetrance embryonic growth retardation abnormal retinal outer nuclear layer morphology abnormal embryo turning increased fasting circulating glucose level abnormal retinal inner nuclear layer morphology embryonic lethality complete penetrance abnormal cerebellar granule cell morphology abnormal retinal photoreceptor layer morphology abnormal retinal inner plexiform layer morphology decreased skeletal muscle fiber diameter decreased b wave amplitude decreased cerebellar granule cell number abnormal cerebellar granule layer morphology decreased a wave amplitude skeletal muscle fiber atrophy abnormal retinal outer plexiform layer morphology decreased retinal cone cell number increased endoplasmic reticulum stress Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNH4 UniprotID: Q9UQ05 Mouse Homolog: Kcnh4 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLIC5 UniprotID: Q9NZA1 Mouse Homolog: Clic5 Pharos Link: Pharos Link Knockout Mouse Phenotype: decreased body size circling Hyperactivity abnormal renal glomerulus morphology Gait disturbance Abnormal renal physiology decreased circulating glucose level Polyphagia Albuminuria Proteinuria Adipose tissue loss Hypoinsulinemia Decreased serum leptin Neutropenia Lethargy Hearing impairment Hypothermia Osteopenia Monocytopenia Gastrointestinal hemorrhage decreased bone mineral content decreased prepulse inhibition decreased body length increased or absent threshold for auditory brainstem response decreased eosinophil cell number decreased startle reflex increased respiratory quotient absent startle reflex head bobbing abnormal pulmonary alveolus morphology abnormal lens development vestibular hair cell degeneration increased susceptibility to weight loss cochlear ganglion degeneration podocyte foot process effacement cochlear outer hair cell degeneration head tossing decreased susceptibility to hepatic steatosis organ of Corti degeneration increased susceptibility to injury bidirectional circling impaired swimming abnormal cochlear hair cell stereociliary bundle morphology increased circulating glucagon level increased stomach pH cochlear inner hair cell degeneration increased aggression towards males abnormal glomerular capillary endothelium morphology abnormal podocyte foot process morphology decreased digestive secretion abnormal glomerular endothelium fenestra morphology Monogenic Disease Association: Not Detected Polygenic Disease Association: leukocyte count 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GABRR1 UniprotID: P24046 Mouse Homolog: Gabrr1 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal rod electrophysiology abnormal mechanical nociception Abnormality of the sense of smell Abnormal nervous system electrophysiology hyperresponsive to tactile stimuli Monogenic Disease Association: Not Detected Polygenic Disease Association: alcoholic intoxication chronic bipolar disorder schizophrenia 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNA7 UniprotID: Q96RP8 Mouse Homolog: Kcna7 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: SCN7A UniprotID: Q01118 Mouse Homolog: Scn7a Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal taste sensitivity Monogenic Disease Association: Not Detected Polygenic Disease Association: cholesterol hdl platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GLRA3 UniprotID: O75311 Mouse Homolog: Glra3 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype Abnormal eye physiology increased susceptibility to pharmacologically induced seizures abnormal nociception after inflammation abnormal inhibitory postsynaptic currents Monogenic Disease Association: Not Detected Polygenic Disease Association: platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNK4 UniprotID: Q9NYG8 Mouse Homolog: Kcnk4 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNH6 UniprotID: Q9H252 Mouse Homolog: Kcnh6 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: psychotic disorders schizophrenia nonorganic psychosis 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: BEST4 UniprotID: Q8NFU0 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNT2 UniprotID: Q6UVM3 Mouse Homolog: Kcnt2 Pharos Link: Pharos Link Knockout Mouse Phenotype: behavior/neurological phenotype no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: arterial pressure macular degeneration 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLIC2 UniprotID: O15247 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: intellectual disability 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CHRNA10 UniprotID: Q9GZZ6 Mouse Homolog: Chrna10 Pharos Link: Pharos Link Knockout Mouse Phenotype: hearing/vestibular/ear phenotype abnormal distortion product otoacoustic emission abnormal cochlear outer hair cell physiology abnormal cochlear inner hair cell physiology abnormal cochlear hair cell physiology abnormal cochlear hair cell morphology abnormal cochlear OHC efferent innervation pattern abnormal cochlear IHC efferent innervation pattern Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMEM38B UniprotID: Q9NVV0 Mouse Homolog: Tmem38b Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal calcium ion homeostasis Functional respiratory abnormality Cyanosis Respiratory distress Respiratory insufficiency Neonatal death Acidosis Atelectasis abnormal surfactant secretion hypoxia neonatal lethality complete penetrance abnormal lung development impaired lung alveolus development pulmonary vascular congestion thick pulmonary interalveolar septum abnormal pulmonary alveolus epithelial cell morphology abnormal type II pneumocyte morphology abnormal surfactant composition decreased alveolar lamellar body number small alveolar lamellar bodies abnormal lung saccule morphology abnormal alveolar lamellar body morphology Monogenic Disease Association: osteogenesis imperfecta type 14 Polygenic Disease Association: osteogenesis imperfecta osteogenesis imperfecta type xiv platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMEM63A UniprotID: O94886 Mouse Homolog: Tmem63a Pharos Link: Pharos Link Knockout Mouse Phenotype: Hypocalcemia Hypertriglyceridemia Elevated tissue non-specific alkaline phosphatase Elevated serum creatinine fusion of vertebral arches polysyndactyly vertebral transformation Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: PANX2 UniprotID: Q96RD6 Mouse Homolog: Panx2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Enlarged uterus small superior vagus ganglion hydrometra decreased susceptibility to ischemic brain injury Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GRID1 UniprotID: Q9ULK0 Mouse Homolog: Grid1 Pharos Link: Pharos Link Knockout Mouse Phenotype: behavior/neurological phenotype Decreased body weight Abnormal auditory evoked potentials Hearing impairment increased or absent threshold for auditory brainstem response abnormal distortion product otoacoustic emission absent distortion product otoacoustic emissions cochlear outer hair cell degeneration increased susceptibility to noise-induced hearing loss decreased endocochlear potential type IV spiral ligament fibrocyte degeneration Monogenic Disease Association: Not Detected Polygenic Disease Association: bipolar disorder mental depression depressive disorder schizophrenia platelet function tests walking 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GRIK3 UniprotID: Q13003 Mouse Homolog: Grik3 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal CNS synaptic transmission reduced long term potentiation decreased paired-pulse facilitation decreased post-tetanic potentiation Monogenic Disease Association: Not Detected Polygenic Disease Association: mental depression depressive disorder psychotic disorders schizophrenia 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNJ15 UniprotID: Q99712 Mouse Homolog: Kcnj15 Pharos Link: Pharos Link Knockout Mouse Phenotype: Impaired proprioception Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMEM63B UniprotID: Q5T3F8 Mouse Homolog: Tmem63b Pharos Link: Pharos Link Knockout Mouse Phenotype: Hyperactivity Behavioral abnormality limb grasping Abnormal cornea morphology preweaning lethality complete penetrance Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNN1 UniprotID: Q92952 Mouse Homolog: Kcnn1 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CHRNA2 UniprotID: Q15822 Mouse Homolog: Chrna2 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype no abnormal phenotype detected abnormal excitatory postsynaptic currents decreased physiological sensitivity to xenobiotic abnormal inhibitory postsynaptic currents abnormal long term potentiation Monogenic Disease Association: autosomal dominant nocturnal frontal lobe epilepsy 4 Polygenic Disease Association: bipolar disorder mental depression depressive disorder autosomal dominant nocturnal frontal lobe epilepsy 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNC4 UniprotID: Q03721 Mouse Homolog: Kcnc4 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: TMEM63C UniprotID: Q9P1W3 Mouse Homolog: Tmem63c Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: blood pressure 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNJ18 UniprotID: B7U540 Mouse Homolog: Kcnj12 Pharos Link: Pharos Link Knockout Mouse Phenotype: increased startle reflex cardiovascular system phenotype Monogenic Disease Association: Not Detected Polygenic Disease Association: thyrotoxic periodic paralysis 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CHRNB1 UniprotID: P11230 Mouse Homolog: Chrnb1 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal neuromuscular synapse morphology abnormal miniature endplate potential Monogenic Disease Association: congenital myasthenic syndrome 2A Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLCNKA UniprotID: P51800 Mouse Homolog: Clcnkb ,Clcnka Pharos Link: Pharos Link Knockout Mouse Phenotype: decreased renal glomerular filtration rate premature death Hydronephrosis Hypokalemia Hyperchloriduria Hypotension Hypermagnesiuria Polyuria Failure to thrive Adipose tissue loss Hyperprostaglandinuria Abnormal bone structure Increased blood urea nitrogen Abnormality of urine homeostasis Hypochloremia Alkalosis Increased urinary potassium Hypovolemia Increased circulating renin level decreased bone mineral content decreased body length decreased grip strength improved glucose tolerance shortened QRS complex duration increased lean body mass small kidney increased fasting circulating glucose level hearing/vestibular/ear phenotype renal/urinary system phenotype decreased urine osmolality decreased physiological sensitivity to xenobiotic dilated distal convoluted tubules alkalemia juxtaglomerular cell hyperplasia abnormal distal convoluted tubule morphology abnormal juxtaglomerular apparatus morphology abnormal kidney blood vessel morphology abnormal renal transport increased urine sodium level abnormal kidney afferent arteriole morphology abnormal loop of Henle ascending limb thick segment morphology abnormal renal sodium ion transport abnormal kidney efferent arteriole morphology Polyuria increased susceptibility to induced colitis decreased urine osmolality Monogenic Disease Association: Bartter disease type 4B Polygenic Disease Association: hypertensive disease 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNK7 UniprotID: Q9Y2U2 Mouse Homolog: Kcnk7 Pharos Link: Pharos Link Knockout Mouse Phenotype: no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: PKD2L2 UniprotID: Q9NZM6 Mouse Homolog: Pkd2l2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Hyperactivity Osteopenia improved glucose tolerance decreased fasting circulating glucose level obsolete Glucose intolerance Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNV1 UniprotID: Q6PIU1 Mouse Homolog: Kcnv1 Pharos Link: Pharos Link Knockout Mouse Phenotype: Tremor iris synechia Hyperkinesis Ataxia shortened PQ interval Monogenic Disease Association: Not Detected Polygenic Disease Association: blood coagulation factors blood pressure 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CHRND UniprotID: Q07001 Mouse Homolog: Chrnd Pharos Link: Pharos Link Knockout Mouse Phenotype: muscle phenotype Abnormal peripheral nervous system synaptic transmission abnormal endplate potential abnormal miniature endplate potential abnormal action potential Monogenic Disease Association: congenital myasthenic syndrome 3B Polygenic Disease Association: myasthenic syndromes congenital 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNG2 UniprotID: Q9UJ96 Mouse Homolog: Kcng2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Behavioral abnormality Hypoalbuminemia decreased cardiac stroke volume Monogenic Disease Association: Not Detected Polygenic Disease Association: platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNS1 UniprotID: Q96KK3 Mouse Homolog: Kcns1 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: depressive symptoms platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNG3 UniprotID: Q8TAE7 Mouse Homolog: Kcng3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CNGA4 UniprotID: Q8IV77 Mouse Homolog: Cnga4 Pharos Link: Pharos Link Knockout Mouse Phenotype: taste/olfaction phenotype abnormal odor adaptation abnormal olfactory system physiology Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNT1 UniprotID: Q5JUK3 Mouse Homolog: Kcnt1 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal mechanical nociception no abnormal phenotype detected impaired ability to fire action potentials decreased channel response intensity increased pruritus abnormal sensory neuron physiology Monogenic Disease Association: epileptic encephalopathy early infantile 14 autosomal dominant nocturnal frontal lobe epilepsy 5 Polygenic Disease Association: epilepsies partial epileptic encephalopathy autosomal dominant nocturnal frontal lobe epilepsy 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNK12 UniprotID: Q9HB15 Mouse Homolog: Kcnk12 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: hip 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNG4 UniprotID: Q8TDN1 Mouse Homolog: Kcng4 Pharos Link: Pharos Link Knockout Mouse Phenotype: Abnormality of brain morphology Hydrocephalus decreased vertical activity Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: PKD1L3 UniprotID: Q7Z443 Mouse Homolog: Pkd1l3 Pharos Link: Pharos Link Knockout Mouse Phenotype: behavior/neurological phenotype nervous system phenotype taste/olfaction phenotype Monogenic Disease Association: Not Detected Polygenic Disease Association: alpha-globulins 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNJ14 UniprotID: Q9UNX9 Mouse Homolog: Kcnj14 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal sensory capabilities/reflexes/nociception decreased prepulse inhibition Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GABRA5 UniprotID: P31644 Mouse Homolog: Gabra5 Pharos Link: Pharos Link Knockout Mouse Phenotype: Hyperactivity abnormal contextual conditioning behavior abnormal behavioral response to xenobiotic abnormal spatial learning decreased prepulse inhibition increased or absent threshold for auditory brainstem response decreased fluid intake abnormal auditory brainstem response waveform shape cochlear ganglion degeneration abnormal distortion product otoacoustic emission abnormal cochlea morphology cochlear outer hair cell degeneration abnormal inhibitory postsynaptic currents abnormal GABA-mediated receptor currents abnormal long term potentiation sensorineural hearing loss enhanced cued conditioning behavior abnormal hippocampus CA1 region morphology cochlear inner hair cell degeneration abnormal cochlear OHC efferent innervation pattern type IV spiral ligament fibrocyte degeneration Monogenic Disease Association: Not Detected Polygenic Disease Association: alcoholic intoxication chronic autistic disorder bipolar disorder schizophrenia mood disorders platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CATSPER2 UniprotID: Q96P56 Mouse Homolog: Catsper2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Male infertility impaired acrosome reaction abnormal sperm physiology asthenozoospermia impaired fertilization Abnormal sperm motility Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GABRP UniprotID: O00591 Mouse Homolog: Gabrp Pharos Link: Pharos Link Knockout Mouse Phenotype: no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: malignant neoplasm of breast heart failure 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNS2 UniprotID: Q9ULS6 Mouse Homolog: Kcns2 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal heart left ventricle morphology decreased lean body mass no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNS3 UniprotID: Q9BQ31 Mouse Homolog: Kcns3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: schizophrenia body weight changes echocardiography mental competency platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG8 UniprotID: Q8WXS5 Mouse Homolog: Cacng8 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype Abnormal synaptic transmission Abnormality of reproductive system physiology abnormal excitatory postsynaptic currents abnormal glutamate-mediated receptor currents abnormal miniature excitatory postsynaptic currents reduced long term potentiation abnormal hippocampus pyramidal cell morphology abnormal AMPA-mediated synaptic currents Mortality/Aging Monogenic Disease Association: Not Detected Polygenic Disease Association: schizophrenia 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: HTR3C UniprotID: Q8WXA8 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: autistic disorder 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: LRRC38 UniprotID: Q5VT99 Mouse Homolog: Lrrc38 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNMB3 UniprotID: Q9NPA1 Mouse Homolog: Kcnmb3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLCA4 UniprotID: Q14CN2 Mouse Homolog: Clca4a ,Clca4b Pharos Link: Pharos Link Knockout Mouse Phenotype: NA no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: cystic fibrosis 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: HTR3D UniprotID: Q70Z44 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: schizophrenia 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG5 UniprotID: Q9UF02 Mouse Homolog: Cacng5 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: bipolar disorder schizophrenia platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG3 UniprotID: O60359 Mouse Homolog: Cacng3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Hypercholesterolemia Increased HDL cholesterol concentration no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: autistic disorder cholesterol hdl leukocyte count 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: PKD1L2 UniprotID: Q7Z442 Mouse Homolog: Pkd1l2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Abnormality of the lens Female infertility Monogenic Disease Association: Not Detected Polygenic Disease Association: diabetic nephropathies liver cirrhosis biliary lutein platelet function tests beta carotene 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GABRG1 UniprotID: Q8N1C3 Mouse Homolog: Gabrg1 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: alcoholic intoxication chronic bipolar disorder 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: SLC26A1 UniprotID: Q9H2B4 Mouse Homolog: Slc26a1 Pharos Link: Pharos Link Knockout Mouse Phenotype: Elevated hepatic transaminase Hepatic necrosis Hypercalciuria Nephritis Hypercalcemia Nephrolithiasis abnormal digestive system physiology increased circulating alanine transaminase level abnormal vesicle-mediated transport increased physiological sensitivity to xenobiotic abnormal mineral level hyposulfatemia Increased urinary sulfate Monogenic Disease Association: Not Detected Polygenic Disease Association: hyperoxaluria 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: LRRC55 UniprotID: Q6ZSA7 Mouse Homolog: Lrrc55 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG7 UniprotID: P62955 Mouse Homolog: Cacng7 Pharos Link: Pharos Link Knockout Mouse Phenotype: no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNAB3 UniprotID: O43448 Mouse Homolog: Kcnab3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Increased bone mineral density Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: GLRB UniprotID: P48167 Mouse Homolog: Glrb Pharos Link: Pharos Link Knockout Mouse Phenotype: decreased body size Adrenal hyperplasia Gait disturbance short stride length abnormal Purkinje cell morphology Tremor abnormal maternal nurturing abnormal motor capabilities/coordination/movement limb grasping Increased susceptibility to fractures Abnormal posturing Hyperkinesis Exaggerated startle response Abnormality of the spinal cord Edema Hypoalbuminemia Microphthalmia Abnormal bleeding preweaning lethality complete penetrance increased startle reflex decreased startle reflex impaired righting response postnatal lethality incomplete penetrance impaired acrosome reaction reduced male fertility muscle hypertonia abnormal dorsal root ganglion morphology impaired fertilization impaired swimming abnormal adrenal cortex morphology abnormal vertebral column morphology abnormal spinal nerve morphology abnormal spinal cord ventral horn morphology abnormal intervertebral disk morphology abnormal brain dura mater morphology Low tissue non-specific alkaline phosphatase Monogenic Disease Association: hyperekplexia 2 Polygenic Disease Association: platelet function tests tumor necrosis factor-alpha 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNA2D3 UniprotID: Q8IZS8 Mouse Homolog: Cacna2d3 Pharos Link: Pharos Link Knockout Mouse Phenotype: increased aggression behavior/neurological phenotype Hyperactivity decreased circulating glucose level Abnormality of nervous system physiology Hypernatremia decreased startle reflex decreased circulating free fatty acid level increased thermal nociceptive threshold abnormal nociception after inflammation Monogenic Disease Association: Not Detected Polygenic Disease Association: body weight child development disorders pervasive platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: SCNN1B UniprotID: P51168 Mouse Homolog: Scnn1b Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal kidney morphology postnatal lethality Functional respiratory abnormality Decreased body weight Hypokalemia Hyponatremia Abnormality of pelvic girdle bone morphology Hyperkalemia Respiratory distress Emphysema Pneumonia Hyperchloremia Abnormality of urine homeostasis Alkalosis Hypervolemia Hyperaldosteronism preweaning lethality complete penetrance abnormal digestive system physiology respiratory system phenotype no abnormal phenotype detected postnatal lethality incomplete penetrance postnatal lethality complete penetrance neonatal lethality complete penetrance cardiac hypertrophy respiratory system inflammation pulmonary epithelial necrosis salt-sensitive hypertension increased systemic arterial systolic blood pressure abnormal respiratory mucosa goblet cell morphology abnormal mucociliary clearance obsolete Decreased circulating aldosterone level Monogenic Disease Association: Liddle syndrome 1 bronchiectasis with or without elevated sweat chloride 1 Polygenic Disease Association: cystic fibrosis hypertensive disease lung diseases pseudohypoaldosteronism liddle syndrome pseudohypoaldosteronism type i pulmonary cystic fibrosis platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG4 UniprotID: Q9UBN1 Mouse Homolog: Cacng4 Pharos Link: Pharos Link Knockout Mouse Phenotype: no abnormal phenotype detected abnormal excitatory postsynaptic currents Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG6 UniprotID: Q9BXT2 Mouse Homolog: Cacng6 Pharos Link: Pharos Link Knockout Mouse Phenotype: Increased bone mineral density Osteopenia decreased bone mineral content no abnormal phenotype detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNA2D4 UniprotID: Q7Z3S7 Mouse Homolog: Cacna2d4 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal rod electrophysiology abnormal eye electrophysiology increased bone mineral content abnormal retinal outer nuclear layer morphology abnormal retinal blood vessel morphology thin retinal outer plexiform layer abnormal cone electrophysiology abnormal retinal layer morphology abnormal retinal inner plexiform layer morphology abnormal retinal outer plexiform layer morphology Monogenic Disease Association: retinal cone dystrophy 4 Polygenic Disease Association: bipolar disorder cholesterol ldl echocardiography 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: SCNN1D UniprotID: P51172 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: HTR3E UniprotID: A5X5Y0 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: schizophrenia smoking 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNG1 UniprotID: Q06432 Mouse Homolog: Cacng1 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal muscle electrophysiology Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNIP1 UniprotID: Q9NZI2 Mouse Homolog: Kcnip1 Pharos Link: Pharos Link Knockout Mouse Phenotype: nervous system phenotype increased sensitivity to induced morbidity/mortality increased susceptibility to pharmacologically induced seizures Monogenic Disease Association: Not Detected Polygenic Disease Association: homocysteine myocardial infarction platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNAB2 UniprotID: Q13303 Mouse Homolog: Kcnab2 Pharos Link: Pharos Link Knockout Mouse Phenotype: premature death decreased body size behavior/neurological phenotype impaired adaptive thermogenesis abnormal learning/memory/conditioning Tremor abnormal spatial learning Abnormal nervous system electrophysiology no abnormal phenotype detected hearing/vestibular/ear phenotype impaired contextual conditioning behavior sporadic seizures decreased core body temperature abnormal afterhyperpolarization Monogenic Disease Association: Not Detected Polygenic Disease Association: epilepsy chromosome 1p36 deletion syndrome 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: SCN3B UniprotID: Q9NY72 Mouse Homolog: Scn3b Pharos Link: Pharos Link Knockout Mouse Phenotype: Abnormal bone structure Abnormal EKG Myositis Arrhythmia decreased bone mineral content decreased body length abnormal myocardial fiber physiology abnormal hypodermis muscle layer morphology Monogenic Disease Association: Brugada syndrome 7 Polygenic Disease Association: brugada syndrome (disorder) cholesterol hdl glomerular filtration rate triglycerides 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNIP4 UniprotID: Q6PIL6 Mouse Homolog: Kcnip4 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: body mass index brain echocardiography exercise test hemoglobin a glycosylated myocardial infarction platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLCN6 UniprotID: P51797 Mouse Homolog: Clcn6 Pharos Link: Pharos Link Knockout Mouse Phenotype: Abnormal neuron morphology abnormal axon morphology Anxiety decreased vertical activity increased thermal nociceptive threshold decreased anxiety-related response lysosomal protein accumulation Monogenic Disease Association: Not Detected Polygenic Disease Association: blood pressure 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNA2D2 UniprotID: Q9NY47 Mouse Homolog: Cacna2d2 Pharos Link: Pharos Link Knockout Mouse Phenotype: Purkinje cell degeneration hindlimb paralysis premature death impaired coordination Abnormal neuron morphology decreased body size Impaired proprioception reduced fertility abnormal axon morphology Seizures abnormal neuron physiology decreased neuron number decreased survivor rate Gait disturbance abnormal ventral spinal root morphology nervous system phenotype decreased Purkinje cell number decreased spinal cord size abnormal spike wave discharge abnormal Purkinje cell morphology Tremor abnormal locomotor behavior abnormal motor capabilities/coordination/movement abnormal heart rate abnormal involuntary movement limb grasping Decreased body weight Abnormal motor neuron morphology Abnormality of the pituitary gland Abnormal myelination Abnormality of the spinal cord Absence seizures Abnormal enzyme/coenzyme activity Hypoplasia of the thymus Cerebellar dysplasia Failure to thrive Bradycardia Dehydration Abnormal eating behavior Cerebellar vermis hypoplasia Female infertility Myoclonus Abnormal nervous system electrophysiology Lethargy Ataxia Abnormality of the medulla oblongata Rhinitis Abnormality of movement abnormal hindbrain development no abnormal phenotype detected postnatal lethality incomplete penetrance abnormal CNS synaptic transmission absent corpus luteum endocrine/exocrine gland phenotype small cerebellum reduced male fertility reduced female fertility reproductive system phenotype tonic seizures abnormal spinal cord white matter morphology behavioral arrest decreased brain weight increased susceptibility to pharmacologically induced seizures abnormal brain wave pattern decreased neurotransmitter release abnormal neuromuscular synapse morphology abnormal uterus morphology abnormal vertebral column morphology abnormal thymus involution induced hyperactivity abnormal miniature endplate potential abnormal spinal nerve morphology short vertebral body abnormal sexual interaction abnormal miniature inhibitory postsynaptic currents abnormal glial cell physiology axonal dystrophy skeletal muscle hypoplasia abnormal CNS glial cell morphology absent lactotrophs abnormal dorsal spinal root morphology decreased pons size Abnormality of hindbrain morphology Monogenic Disease Association: Not Detected Polygenic Disease Association: absence epilepsy epileptic encephalopathy 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CLCA2 UniprotID: Q9UQC9 Mouse Homolog: Clca2 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal hepatocyte morphology Hepatomegaly increased liver weight multifocal hepatic necrosis Monogenic Disease Association: Not Detected Polygenic Disease Association: malignant neoplasm of breast 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNB4 UniprotID: O00305 Mouse Homolog: None Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: ataxia idiopathic generalized epilepsy juvenile myoclonic epilepsy 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: FXYD7 UniprotID: P58549 Mouse Homolog: Fxyd7 Pharos Link: Pharos Link Knockout Mouse Phenotype: abnormal seminal vesicle morphology Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNB2 UniprotID: Q08289 Mouse Homolog: Cacnb2 Pharos Link: Pharos Link Knockout Mouse Phenotype: vision/eye phenotype Bradycardia Abnormal cardiovascular system physiology embryonic lethality during organogenesis complete penetrance embryonic lethality complete penetrance abnormal myocardial fiber physiology abnormal vitelline vascular remodeling obsolete Glucose intolerance Monogenic Disease Association: Brugada syndrome 4 Polygenic Disease Association: bipolar disorder schizophrenia arterial pressure blood pressure blood vessels platelet function tests 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: SCN2B UniprotID: O60939 Mouse Homolog: Scn2b Pharos Link: Pharos Link Knockout Mouse Phenotype: Abnormal nervous system electrophysiology abnormal QT variability increased susceptibility to pharmacologically induced seizures obsolete Glucose intolerance Monogenic Disease Association: atrial fibrillation familial 14 Polygenic Disease Association: brugada syndrome (disorder) 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNB3 UniprotID: P54284 Mouse Homolog: Cacnb3 Pharos Link: Pharos Link Knockout Mouse Phenotype: vision/eye phenotype nervous system phenotype abnormal calcium ion homeostasis Cardiomegaly increased heart weight decreased interferon-gamma secretion enhanced long term potentiation abnormal discrimination learning abnormal long term object recognition memory abnormal sensory neuron innervation pattern increased systemic arterial diastolic blood pressure enhanced contextual conditioning behavior abnormal channel response increased systemic arterial blood pressure abnormal CD4-positive alpha-beta T cell physiology abnormal optic tract morphology abnormal vascular smooth muscle physiology abnormal vascular smooth muscle morphology increased systemic arterial systolic blood pressure vascular smooth muscle hypertrophy enhanced NMDA-mediated synaptic currents Abnormality of interleukin secretion Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: KCNMB4 UniprotID: Q86W47 Mouse Homolog: Kcnmb4 Pharos Link: Pharos Link Knockout Mouse Phenotype: no abnormal phenotype detected abnormal action potential nonconvulsive seizures Monogenic Disease Association: Not Detected Polygenic Disease Association: blood pressure 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: CACNB1 UniprotID: Q02641 Mouse Homolog: Cacnb1 Pharos Link: Pharos Link Knockout Mouse Phenotype: vision/eye phenotype abnormal spine curvature abnormal limb morphology abnormal motor capabilities/coordination/movement Abnormal muscle fiber morphology Abnormal posturing Abnormality of muscle physiology perinatal lethality complete penetrance impaired skeletal muscle contractility decreased skeletal muscle mass Monogenic Disease Association: Not Detected Polygenic Disease Association: Not Detected 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected
Basic Information Gene Taxonomy: FXYD3 UniprotID: Q14802 Mouse Homolog: Fxyd3 Pharos Link: Pharos Link Knockout Mouse Phenotype: Not Detected Monogenic Disease Association: Not Detected Polygenic Disease Association: malignant neoplasm of pancreas 10K Immunome: Not Detected SARS-CoV-2 Association: Not Detected SARS-CoV-2 Vaccine Association: Not Detected