Data and Resources

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

FXYD3

UniprotID:

Q14802

Mouse Homolog:

Fxyd3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

malignant neoplasm of pancreas

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

PKD1L2

UniprotID:

Q7Z442

Mouse Homolog:

Pkd1l2

Pharos Link:

Knockout Mouse Phenotype:

Abnormality of the lens

Monogenic Disease Association:

Polygenic Disease Association:

diabetic nephropathies

liver cirrhosis

biliary

lutein

beta carotene

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

HTR3D

UniprotID:

Q70Z44

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLIC3

UniprotID:

O95833

Mouse Homolog:

Clic3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

FAM26D

UniprotID:

Q5JW98

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMC5

UniprotID:

Q6UXY8

Mouse Homolog:

Tmc5

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMC3

UniprotID:

Q7Z5M5

Mouse Homolog:

Tmc3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

forced expiratory volume

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNA6

UniprotID:

P17658

Mouse Homolog:

Kcna6

Pharos Link:

increased thermal nociceptive threshold

Knockout Mouse Phenotype:

Hypertriglyceridemia

Monogenic Disease Association:

Polygenic Disease Association:

eosinophils

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMC4

UniprotID:

Q7Z404

Mouse Homolog:

Tmc4

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLCC1

UniprotID:

Q96S66

Mouse Homolog:

Clcc1

Pharos Link:

Knockout Mouse Phenotype:

brain vacuoles

muscular atrophy

embryonic growth retardation

Retinal dysplasia

Neurodegeneration

Cerebellar hypoplasia

Skeletal muscle atrophy

abnormal retinal outer nuclear layer morphology

abnormal embryo turning

increased fasting circulating glucose level

abnormal retinal inner nuclear layer morphology

embryonic lethality

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:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNH4

UniprotID:

Q9UQ05

Mouse Homolog:

Kcnh4

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

ASIC4

UniprotID:

Q96FT7

Mouse Homolog:

Asic4

Pharos Link:

Knockout Mouse Phenotype:

decreased vertical activity

small superior vagus ganglion

hydrometra

Decreased basophil count

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLIC6

UniprotID:

Q96NY7

Mouse Homolog:

Clic6

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMC7

UniprotID:

Q7Z402

Mouse Homolog:

Tmc7

Pharos Link:

Knockout Mouse Phenotype:

Male infertility

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNH8

UniprotID:

Q96L42

Mouse Homolog:

Kcnh8

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TTYH2

UniprotID:

Q9BSA4

Mouse Homolog:

Ttyh2

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GPR89A

UniprotID:

B7ZAQ6

Mouse Homolog:

Gpr89

Pharos Link:

abnormal ear lobe morphology

Knockout Mouse Phenotype:

dermatitis

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:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GLRA4

UniprotID:

Q5JXX5

Mouse Homolog:

Glra4

Pharos Link:

Increased LDL cholesterol concentration

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCND1

UniprotID:

Q9NSA2

Mouse Homolog:

Kcnd1

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TTYH1

UniprotID:

Q9H313

Mouse Homolog:

Ttyh1

Pharos Link:

embryonic lethality before implantation

Knockout Mouse Phenotype:

embryonic growth arrest

abnormal cell nucleus morphology

abnormal mitosis

increased cell nucleus count

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GPR89B

UniprotID:

P0CG08

Mouse Homolog:

Gpr89

Pharos Link:

abnormal ear lobe morphology

Knockout Mouse Phenotype:

dermatitis

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:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

FAM26E

UniprotID:

F7IPZ5

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

PLLP

UniprotID:

Q9Y342

Mouse Homolog:

Pllp

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMEM63A

UniprotID:

O94886

Mouse Homolog:

Tmem63a

Pharos Link:

Elevated tissue non-specific alkaline phosphatase

Knockout Mouse Phenotype:

Hypocalcemia

Hypertriglyceridemia

Elevated serum creatinine

fusion of vertebral arches

polysyndactyly

vertebral transformation

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

PANX2

UniprotID:

Q96RD6

Mouse Homolog:

Panx2

Pharos Link:

small superior vagus ganglion

Knockout Mouse Phenotype:

Enlarged uterus

hydrometra

decreased susceptibility to ischemic brain injury

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GRID1

UniprotID:

Q9ULK0

Mouse Homolog:

Grid1

Pharos Link:

Knockout Mouse Phenotype:

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:

Polygenic Disease Association:

walking

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GRIK3

UniprotID:

Q13003

Mouse Homolog:

Grik3

Pharos Link:

abnormal CNS synaptic transmission

Knockout Mouse Phenotype:

reduced long term potentiation

decreased paired-pulse facilitation

decreased post-tetanic potentiation

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNJ15

UniprotID:

Q99712

Mouse Homolog:

Kcnj15

Pharos Link:

Knockout Mouse Phenotype:

Impaired proprioception

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMEM63B

UniprotID:

Q5T3F8

Mouse Homolog:

Tmem63b

Pharos Link:

Knockout Mouse Phenotype:

Abnormal cornea morphology

Behavioral abnormality

limb grasping

preweaning lethality

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNN1

UniprotID:

Q92952

Mouse Homolog:

Kcnn1

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CHRNA2

UniprotID:

Q15822

Mouse Homolog:

Chrna2

Pharos Link:

Knockout Mouse Phenotype:

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:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNC4

UniprotID:

Q03721

Mouse Homolog:

Kcnc4

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMEM63C

UniprotID:

Q9P1W3

Mouse Homolog:

Tmem63c

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLIC5

UniprotID:

Q9NZA1

Mouse Homolog:

Clic5

Pharos Link:

Knockout Mouse Phenotype:

decreased body size

circling

abnormal renal glomerulus morphology

Gait disturbance

Abnormal renal physiology

decreased circulating glucose level

Decreased serum leptin

Gastrointestinal hemorrhage

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:

Polygenic Disease Association:

leukocyte count

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GABRR1

UniprotID:

P24046

Mouse Homolog:

Gabrr1

Pharos Link:

abnormal rod electrophysiology

Knockout Mouse Phenotype:

abnormal mechanical nociception

Abnormality of the sense of smell

hyperresponsive to tactile stimuli

Monogenic Disease Association:

Polygenic Disease Association:

alcoholic intoxication

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNA7

UniprotID:

Q96RP8

Mouse Homolog:

Kcna7

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

SCN7A

UniprotID:

Q01118

Mouse Homolog:

Scn7a

Pharos Link:

abnormal taste sensitivity

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

cholesterol

hdl

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GLRA3

UniprotID:

O75311

Mouse Homolog:

Glra3

Pharos Link:

Knockout Mouse Phenotype:

increased susceptibility to pharmacologically induced seizures

Abnormal eye physiology

abnormal nociception after inflammation

abnormal inhibitory postsynaptic currents

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNK4

UniprotID:

Q9NYG8

Mouse Homolog:

Kcnk4

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNH6

UniprotID:

Q9H252

Mouse Homolog:

Kcnh6

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

BEST4

UniprotID:

Q8NFU0

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNT2

UniprotID:

Q6UVM3

Mouse Homolog:

Kcnt2

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

arterial pressure

macular degeneration

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLIC2

UniprotID:

O15247

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

intellectual disability

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CHRNA10

UniprotID:

Q9GZZ6

Mouse Homolog:

Chrna10

Pharos Link:

hearing/vestibular/ear phenotype

Knockout Mouse 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:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

TMEM38B

UniprotID:

Q9NVV0

Mouse Homolog:

Tmem38b

Pharos Link:

abnormal calcium ion homeostasis

Knockout Mouse Phenotype:

Functional respiratory abnormality

Cyanosis

Respiratory distress

Respiratory insufficiency

Neonatal death

Acidosis

Atelectasis

abnormal surfactant secretion

hypoxia

neonatal lethality

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

type xiv

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNK12

UniprotID:

Q9HB15

Mouse Homolog:

Kcnk12

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

hip

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNG4

UniprotID:

Q8TDN1

Mouse Homolog:

Kcng4

Pharos Link:

Abnormality of brain morphology

Knockout Mouse Phenotype:

Hydrocephalus

decreased vertical activity

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

PKD1L3

UniprotID:

Q7Z443

Mouse Homolog:

Pkd1l3

Pharos Link:

Knockout Mouse Phenotype:

taste/olfaction phenotype

Monogenic Disease Association:

Polygenic Disease Association:

alpha-globulins

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GABRA5

UniprotID:

P31644

Mouse Homolog:

Gabra5

Pharos Link:

Knockout Mouse Phenotype:

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:

Polygenic Disease Association:

alcoholic intoxication

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNJ14

UniprotID:

Q9UNX9

Mouse Homolog:

Kcnj14

Pharos Link:

abnormal sensory capabilities/reflexes/nociception

Knockout Mouse Phenotype:

decreased prepulse inhibition

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CATSPER2

UniprotID:

Q96P56

Mouse Homolog:

Catsper2

Pharos Link:

impaired acrosome reaction

Knockout Mouse Phenotype:

Male infertility

abnormal sperm physiology

asthenozoospermia

impaired fertilization

Abnormal sperm motility

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GABRP

UniprotID:

O00591

Mouse Homolog:

Gabrp

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

malignant neoplasm of breast

Polygenic Disease Association:

heart failure

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNS3

UniprotID:

Q9BQ31

Mouse Homolog:

Kcns3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNS2

UniprotID:

Q9ULS6

Mouse Homolog:

Kcns2

Pharos Link:

abnormal heart left ventricle morphology

Knockout Mouse Phenotype:

decreased lean body mass

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNJ18

UniprotID:

B7U540

Mouse Homolog:

Kcnj12

Pharos Link:

cardiovascular system phenotype

Knockout Mouse Phenotype:

increased startle reflex

Monogenic Disease Association:

thyrotoxic periodic paralysis

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CHRNB1

UniprotID:

P11230

Mouse Homolog:

Chrnb1

Pharos Link:

abnormal neuromuscular synapse morphology

Knockout Mouse Phenotype:

abnormal miniature endplate potential

Monogenic Disease Association:

congenital myasthenic syndrome 2A

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLCNKA

UniprotID:

P51800

Mouse Homolog:

Clcnkb ,Clcnka

Pharos Link:

decreased renal glomerular filtration rate

Knockout Mouse Phenotype:

Hyperprostaglandinuria

Abnormal bone structure

Increased blood urea nitrogen

Abnormality of urine homeostasis

Hypochloremia

Alkalosis

Increased urinary potassium

Hypovolemia

Increased circulating renin level

improved glucose tolerance

decreased body length

decreased grip strength

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:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNK7

UniprotID:

Q9Y2U2

Mouse Homolog:

Kcnk7

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

PKD2L2

UniprotID:

Q9NZM6

Mouse Homolog:

Pkd2l2

Pharos Link:

Knockout Mouse Phenotype:

improved glucose tolerance

Osteopenia

decreased fasting circulating glucose level

obsolete Glucose intolerance

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNV1

UniprotID:

Q6PIU1

Mouse Homolog:

Kcnv1

Pharos Link:

Knockout Mouse Phenotype:

shortened PQ interval

Monogenic Disease Association:

blood coagulation factors

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CHRND

UniprotID:

Q07001

Mouse Homolog:

Chrnd

Pharos Link:

Abnormal peripheral nervous system synaptic transmission

Knockout Mouse Phenotype:

muscle phenotype

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:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNG2

UniprotID:

Q9UJ96

Mouse Homolog:

Kcng2

Pharos Link:

decreased cardiac stroke volume

Knockout Mouse Phenotype:

Behavioral abnormality

Hypoalbuminemia

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNS1

UniprotID:

Q96KK3

Mouse Homolog:

Kcns1

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

depressive symptoms

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNG3

UniprotID:

Q8TAE7

Mouse Homolog:

Kcng3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CNGA4

UniprotID:

Q8IV77

Mouse Homolog:

Cnga4

Pharos Link:

taste/olfaction phenotype

Knockout Mouse Phenotype:

abnormal odor adaptation

abnormal olfactory system physiology

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNT1

UniprotID:

Q5JUK3

Mouse Homolog:

Kcnt1

Pharos Link:

abnormal mechanical nociception

Knockout Mouse Phenotype:

impaired ability to fire action potentials

decreased channel response intensity

increased pruritus

abnormal sensory neuron physiology

Monogenic Disease Association:

epileptic encephalopathy

early infantile

autosomal dominant nocturnal frontal lobe epilepsy 5

Polygenic Disease Association:

epilepsies

partial

epileptic encephalopathy

autosomal dominant nocturnal frontal lobe epilepsy

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNAB3

UniprotID:

O43448

Mouse Homolog:

Kcnab3

Pharos Link:

Increased bone mineral density

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GLRB

UniprotID:

P48167

Mouse Homolog:

Glrb

Pharos Link:

abnormal Purkinje cell morphology

Knockout Mouse Phenotype:

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

increased startle reflex

decreased startle reflex

impaired righting response

impaired acrosome reaction

incomplete penetrance

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:

tumor necrosis factor-alpha

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNA2D3

UniprotID:

Q8IZS8

Mouse Homolog:

Cacna2d3

Pharos Link:

Knockout Mouse Phenotype:

increased aggression

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:

child development disorders

Polygenic Disease Association:

body weight

pervasive

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

SCNN1B

UniprotID:

P51168

Mouse Homolog:

Scnn1b

Pharos Link:

abnormal kidney morphology

Knockout Mouse Phenotype:

Functional respiratory abnormality

Abnormality of pelvic girdle bone morphology

Hypokalemia

Hyponatremia

Abnormality of urine homeostasis

abnormal digestive system physiology

respiratory system phenotype

respiratory system inflammation

incomplete penetrance

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

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG4

UniprotID:

Q9UBN1

Mouse Homolog:

Cacng4

Pharos Link:

Knockout Mouse Phenotype:

abnormal excitatory postsynaptic currents

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG6

UniprotID:

Q9BXT2

Mouse Homolog:

Cacng6

Pharos Link:

Increased bone mineral density

Knockout Mouse Phenotype:

Osteopenia

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNA2D4

UniprotID:

Q7Z3S7

Mouse Homolog:

Cacna2d4

Pharos Link:

abnormal rod electrophysiology

Knockout Mouse Phenotype:

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:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

SCNN1D

UniprotID:

P51172

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

HTR3E

UniprotID:

A5X5Y0

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

smoking

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG1

UniprotID:

Q06432

Mouse Homolog:

Cacng1

Pharos Link:

abnormal muscle electrophysiology

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG8

UniprotID:

Q8WXS5

Mouse Homolog:

Cacng8

Pharos Link:

Knockout Mouse 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:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

HTR3C

UniprotID:

Q8WXA8

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

autistic disorder

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

LRRC38

UniprotID:

Q5VT99

Mouse Homolog:

Lrrc38

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNMB3

UniprotID:

Q9NPA1

Mouse Homolog:

Kcnmb3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLCA4

UniprotID:

Q14CN2

Mouse Homolog:

Clca4a ,Clca4b

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

cystic fibrosis

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

HTR3D

UniprotID:

Q70Z44

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG5

UniprotID:

Q9UF02

Mouse Homolog:

Cacng5

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

bipolar disorder

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG3

UniprotID:

O60359

Mouse Homolog:

Cacng3

Pharos Link:

Increased HDL cholesterol concentration

Knockout Mouse Phenotype:

Hypercholesterolemia

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

PKD1L2

UniprotID:

Q7Z442

Mouse Homolog:

Pkd1l2

Pharos Link:

Knockout Mouse Phenotype:

Abnormality of the lens

Monogenic Disease Association:

Polygenic Disease Association:

diabetic nephropathies

liver cirrhosis

biliary

lutein

beta carotene

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

GABRG1

UniprotID:

Q8N1C3

Mouse Homolog:

Gabrg1

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

alcoholic intoxication

chronic

bipolar disorder

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

SLC26A1

UniprotID:

Q9H2B4

Mouse Homolog:

Slc26a1

Pharos Link:

Elevated hepatic transaminase

Knockout Mouse Phenotype:

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:

Polygenic Disease Association:

hyperoxaluria

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

LRRC55

UniprotID:

Q6ZSA7

Mouse Homolog:

Lrrc55

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNG7

UniprotID:

P62955

Mouse Homolog:

Cacng7

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

FXYD7

UniprotID:

P58549

Mouse Homolog:

Fxyd7

Pharos Link:

abnormal seminal vesicle morphology

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNB2

UniprotID:

Q08289

Mouse Homolog:

Cacnb2

Pharos Link:

Abnormal cardiovascular system physiology

Knockout Mouse Phenotype:

vision/eye phenotype

Bradycardia

embryonic lethality during organogenesis

embryonic lethality

abnormal myocardial fiber physiology

abnormal vitelline vascular remodeling

obsolete Glucose intolerance

Monogenic Disease Association:

Brugada syndrome 4

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

SCN2B

UniprotID:

O60939

Mouse Homolog:

Scn2b

Pharos Link:

Knockout Mouse Phenotype:

increased susceptibility to pharmacologically induced seizures

abnormal QT variability

obsolete Glucose intolerance

Monogenic Disease Association:

atrial fibrillation

familial

Polygenic Disease Association:

brugada syndrome (disorder)

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNB3

UniprotID:

P54284

Mouse Homolog:

Cacnb3

Pharos Link:

Knockout Mouse Phenotype:

vision/eye 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:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNMB4

UniprotID:

Q86W47

Mouse Homolog:

Kcnmb4

Pharos Link:

Knockout Mouse Phenotype:

abnormal action potential

nonconvulsive seizures

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNB1

UniprotID:

Q02641

Mouse Homolog:

Cacnb1

Pharos Link:

abnormal motor capabilities/coordination/movement

Knockout Mouse Phenotype:

vision/eye phenotype

abnormal spine curvature

abnormal limb morphology

Abnormal muscle fiber morphology

Abnormal posturing

Abnormality of muscle physiology

perinatal lethality

impaired skeletal muscle contractility

decreased skeletal muscle mass

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

FXYD3

UniprotID:

Q14802

Mouse Homolog:

Fxyd3

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

malignant neoplasm of pancreas

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNIP1

UniprotID:

Q9NZI2

Mouse Homolog:

Kcnip1

Pharos Link:

Knockout Mouse Phenotype:

increased sensitivity to induced morbidity/mortality

increased susceptibility to pharmacologically induced seizures

Monogenic Disease Association:

Polygenic Disease Association:

homocysteine

myocardial infarction

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNAB2

UniprotID:

Q13303

Mouse Homolog:

Kcnab2

Pharos Link:

Knockout Mouse Phenotype:

decreased body size

impaired adaptive thermogenesis

abnormal learning/memory/conditioning

Tremor

abnormal spatial learning

hearing/vestibular/ear phenotype

impaired contextual conditioning behavior

sporadic seizures

decreased core body temperature

abnormal afterhyperpolarization

Monogenic Disease Association:

chromosome 1p36 deletion syndrome

Polygenic Disease Association:

epilepsy

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

SCN3B

UniprotID:

Q9NY72

Mouse Homolog:

Scn3b

Pharos Link:

Knockout Mouse Phenotype:

Abnormal bone structure

Abnormal EKG

Myositis

Arrhythmia

abnormal myocardial fiber physiology

decreased body length

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:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

KCNIP4

UniprotID:

Q6PIL6

Mouse Homolog:

Kcnip4

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

Polygenic Disease Association:

myocardial infarction

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLCN6

UniprotID:

P51797

Mouse Homolog:

Clcn6

Pharos Link:

Abnormal neuron morphology

Knockout Mouse Phenotype:

abnormal axon morphology

Anxiety

decreased vertical activity

increased thermal nociceptive threshold

decreased anxiety-related response

lysosomal protein accumulation

Monogenic Disease Association:

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNA2D2

UniprotID:

Q9NY47

Mouse Homolog:

Cacna2d2

Pharos Link:

Purkinje cell degeneration

Knockout Mouse Phenotype:

hindlimb paralysis

Abnormal neuron morphology

impaired coordination

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

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

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

Abnormal eating behavior

Cerebellar vermis hypoplasia

Myoclonus

Abnormality of the medulla oblongata

Lethargy

Ataxia

Rhinitis

Abnormality of movement

abnormal hindbrain development

abnormal CNS synaptic transmission

incomplete penetrance

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:

Polygenic Disease Association:

absence epilepsy

epileptic encephalopathy

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CLCA2

UniprotID:

Q9UQC9

Mouse Homolog:

Clca2

Pharos Link:

abnormal hepatocyte morphology

Knockout Mouse Phenotype:

Hepatomegaly

increased liver weight

multifocal hepatic necrosis

Monogenic Disease Association:

malignant neoplasm of breast

Polygenic Disease Association:

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association:

Basic Information

Gene Taxonomy:

CACNB4

UniprotID:

O00305

Mouse Homolog:

None

Pharos Link:

Knockout Mouse Phenotype:

Monogenic Disease Association:

idiopathic generalized epilepsy

Polygenic Disease Association:

ataxia

juvenile myoclonic epilepsy

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association: