Dark Ion Channel Disease and Phenotype Associations

About this resource As part of the IDG Mission of providing data for scientific community to study the dark ion channels, we compiled disease association and mouse phenotype information by mining several public databases.

How this recourse was generated? The disease association information is harmonized from several databases, including Online Mendelian Inheritance in Man (OMIM), ClinVar, DisGeNET and Monarch Initiative database. The mouse phenotype data is compiled from the International Mouse Phenotyping Consortium (IMPC) and Mouse Genome Informatics (MGI).

COVID-19 Vaccine association We characterized the association between dark ion channels and the efficacy of COVID-19 vaccine (BNT162b2). The transcriptomics data were generated using whole blood samples from 30 individuals who receives the COVID-19 (PS. Arunachalam, et al. Nature, 2021). The efficacy of the COVID-19 vaccine was measured as the T cell responses and the antibody responses. We visualized the association between the expression of dark ion channels and the two vaccine outcomes. We tested the associations using regression models (expression ~ outcomes).

COVID-19 outcome association We characterized the association between dark ion channels and the outcomes of COVID-19 patients. The transcriptomics data were generated using whole blood samples from 108 COVID-19 patients (Z. Hu, et al. MedRxiv, 2021). COVID-19 outcomes include the symptom severity, the T cell responses, and the antibody responses. We visualized the association between the expression of dark ion channels and the three COVID-19 outcomes. We tested the associations using regression models (expression ~ outcomes).

10,000 Immunome We characterized the expression of dark ion channels in the whole blood of healthy individuals using data from the 10,000 Immunone Project (K. Zalocusky, et al. Cell reports 2018). The transcriptomics data from the 10,000 immune project are derived from cohort of healthy individuals that are diverse in age, gender and race. We visualized the association between dark ion channels and the demographics of the individuals. We tested the associations using regression models (expression ~ demographics).

Where this resource can be requested These data are available below-- and if you need additional data or would be interested in collaborating on data mining related projects, please contact us.

Gene	Taxonomy	Knockout Mouse Phenotype	Monogenic Disease Association	Polygenic Disease Association
BEST4	BEST4	Not Detected	Not Detected	Not Detected
CACNA2D2	CACNA2D2	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	Not Detected	absence epilepsy epileptic encephalopathy
CACNA2D3	CACNA2D3	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	Not Detected	body weight child development disorders pervasive platelet function tests
CACNA2D4	CACNA2D4	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	retinal cone dystrophy 4	bipolar disorder cholesterol ldl echocardiography
CACNB1	CACNB1	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	Not Detected	Not Detected
CACNB2	CACNB2	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	Brugada syndrome 4	bipolar disorder schizophrenia arterial pressure blood pressure blood vessels platelet function tests
CACNB3	CACNB3	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	Not Detected	Not Detected
CACNB4	CACNB4	Not Detected	Not Detected	ataxia idiopathic generalized epilepsy juvenile myoclonic epilepsy
CACNG1	CACNG1	abnormal muscle electrophysiology	Not Detected	Not Detected
CACNG3	CACNG3	Hypercholesterolemia Increased HDL cholesterol concentration no abnormal phenotype detected	Not Detected	autistic disorder cholesterol hdl leukocyte count
CACNG4	CACNG4	no abnormal phenotype detected abnormal excitatory postsynaptic currents	Not Detected	Not Detected
CACNG5	CACNG5	Not Detected	Not Detected	bipolar disorder schizophrenia platelet function tests
CACNG6	CACNG6	Increased bone mineral density Osteopenia decreased bone mineral content no abnormal phenotype detected	Not Detected	Not Detected
CACNG7	CACNG7	no abnormal phenotype detected	Not Detected	Not Detected
CACNG8	CACNG8	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	Not Detected	schizophrenia
CATSPER2	CATSPER2	Male infertility impaired acrosome reaction abnormal sperm physiology asthenozoospermia impaired fertilization Abnormal sperm motility	Not Detected	Not Detected
CHRNA10	CHRNA10	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	Not Detected	Not Detected
CHRNA2	CHRNA2	nervous system phenotype no abnormal phenotype detected abnormal excitatory postsynaptic currents decreased physiological sensitivity to xenobiotic abnormal inhibitory postsynaptic currents abnormal long term potentiation	autosomal dominant nocturnal frontal lobe epilepsy 4	bipolar disorder mental depression depressive disorder autosomal dominant nocturnal frontal lobe epilepsy
CHRNB1	CHRNB1	abnormal neuromuscular synapse morphology abnormal miniature endplate potential	congenital myasthenic syndrome 2A	Not Detected
CHRND	CHRND	muscle phenotype Abnormal peripheral nervous system synaptic transmission abnormal endplate potential abnormal miniature endplate potential abnormal action potential	congenital myasthenic syndrome 3B	myasthenic syndromes congenital
CLCA2	CLCA2	abnormal hepatocyte morphology Hepatomegaly increased liver weight multifocal hepatic necrosis	Not Detected	malignant neoplasm of breast
CLCA4	CLCA4	NA no abnormal phenotype detected	Not Detected	cystic fibrosis
CLCC1	CLCC1	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	Not Detected	Not Detected
CLCN6	CLCN6	Abnormal neuron morphology abnormal axon morphology Anxiety decreased vertical activity increased thermal nociceptive threshold decreased anxiety-related response lysosomal protein accumulation	Not Detected	blood pressure
CLCNKA	CLCNKA	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	Bartter disease type 4B	hypertensive disease
CLIC2	CLIC2	Not Detected	Not Detected	intellectual disability
CLIC3	CLIC3	Not Detected	Not Detected	Not Detected
CLIC5	CLIC5	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	Not Detected	leukocyte count
CNGA4	CNGA4	taste/olfaction phenotype abnormal odor adaptation abnormal olfactory system physiology	Not Detected	Not Detected
FAM26D	FAM26D	Not Detected	Not Detected	Not Detected
FAM26E	FAM26E	Not Detected	Not Detected	Not Detected
FXYD3	FXYD3	Not Detected	Not Detected	malignant neoplasm of pancreas
FXYD3	FXYD3	Not Detected	Not Detected	malignant neoplasm of pancreas
FXYD7	FXYD7	abnormal seminal vesicle morphology	Not Detected	Not Detected
GABRA5	GABRA5	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	Not Detected	alcoholic intoxication chronic autistic disorder bipolar disorder schizophrenia mood disorders platelet function tests
GABRG1	GABRG1	Not Detected	Not Detected	alcoholic intoxication chronic bipolar disorder
GABRP	GABRP	no abnormal phenotype detected	Not Detected	malignant neoplasm of breast heart failure
GABRR1	GABRR1	abnormal rod electrophysiology abnormal mechanical nociception Abnormality of the sense of smell Abnormal nervous system electrophysiology hyperresponsive to tactile stimuli	Not Detected	alcoholic intoxication chronic bipolar disorder schizophrenia
GLRA3	GLRA3	nervous system phenotype Abnormal eye physiology increased susceptibility to pharmacologically induced seizures abnormal nociception after inflammation abnormal inhibitory postsynaptic currents	Not Detected	platelet function tests
GRID1	GRID1	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	Not Detected	bipolar disorder mental depression depressive disorder schizophrenia platelet function tests walking
HTR3C	HTR3C	Not Detected	Not Detected	autistic disorder
HTR3D	HTR3D	Not Detected	Not Detected	schizophrenia
HTR3D	HTR3D	Not Detected	Not Detected	schizophrenia
HTR3E	HTR3E	Not Detected	Not Detected	schizophrenia smoking
KCNA6	KCNA6	Hypertriglyceridemia increased thermal nociceptive threshold	Not Detected	eosinophils
KCNA7	KCNA7	Not Detected	Not Detected	Not Detected
KCNAB2	KCNAB2	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	Not Detected	epilepsy chromosome 1p36 deletion syndrome
KCNAB3	KCNAB3	Increased bone mineral density	Not Detected	Not Detected
KCNC4	KCNC4	Not Detected	Not Detected	Not Detected
KCND1	KCND1	Not Detected	Not Detected	Not Detected
KCNG3	KCNG3	Not Detected	Not Detected	Not Detected
KCNG4	KCNG4	Abnormality of brain morphology Hydrocephalus decreased vertical activity	Not Detected	Not Detected
KCNH4	KCNH4	Not Detected	Not Detected	Not Detected
KCNIP1	KCNIP1	nervous system phenotype increased sensitivity to induced morbidity/mortality increased susceptibility to pharmacologically induced seizures	Not Detected	homocysteine myocardial infarction platelet function tests
KCNIP4	KCNIP4	Not Detected	Not Detected	body mass index brain echocardiography exercise test hemoglobin a glycosylated myocardial infarction platelet function tests
KCNJ14	KCNJ14	abnormal sensory capabilities/reflexes/nociception decreased prepulse inhibition	Not Detected	Not Detected
KCNJ15	KCNJ15	Impaired proprioception	Not Detected	Not Detected
KCNK12	KCNK12	Not Detected	Not Detected	hip
KCNK4	KCNK4	nervous system phenotype	Not Detected	Not Detected
KCNK7	KCNK7	no abnormal phenotype detected	Not Detected	Not Detected
KCNMB3	KCNMB3	Not Detected	Not Detected	Not Detected
KCNMB4	KCNMB4	no abnormal phenotype detected abnormal action potential nonconvulsive seizures	Not Detected	blood pressure
KCNN1	KCNN1	nervous system phenotype	Not Detected	Not Detected
KCNS1	KCNS1	Not Detected	Not Detected	depressive symptoms platelet function tests
KCNS2	KCNS2	abnormal heart left ventricle morphology decreased lean body mass no abnormal phenotype detected	Not Detected	Not Detected
KCNS3	KCNS3	Not Detected	Not Detected	schizophrenia body weight changes echocardiography mental competency platelet function tests
LRRC55	LRRC55	Not Detected	Not Detected	Not Detected
LRRC55	LRRC55	Not Detected	Not Detected	Not Detected
PANX2	PANX2	Enlarged uterus small superior vagus ganglion hydrometra decreased susceptibility to ischemic brain injury	Not Detected	Not Detected
PKD1L2	PKD1L2	Abnormality of the lens Female infertility	Not Detected	diabetic nephropathies liver cirrhosis biliary lutein platelet function tests beta carotene
PKD1L2	PKD1L2	Abnormality of the lens Female infertility	Not Detected	diabetic nephropathies liver cirrhosis biliary lutein platelet function tests beta carotene
PKD2L2	PKD2L2	Hyperactivity Osteopenia improved glucose tolerance decreased fasting circulating glucose level obsolete Glucose intolerance	Not Detected	Not Detected
PLLP	PLLP	Not Detected	Not Detected	schizophrenia
SCN2B	SCN2B	Abnormal nervous system electrophysiology abnormal QT variability increased susceptibility to pharmacologically induced seizures obsolete Glucose intolerance	atrial fibrillation familial 14	brugada syndrome (disorder)
SCN3B	SCN3B	Abnormal bone structure Abnormal EKG Myositis Arrhythmia decreased bone mineral content decreased body length abnormal myocardial fiber physiology abnormal hypodermis muscle layer morphology	Brugada syndrome 7	brugada syndrome (disorder) cholesterol hdl glomerular filtration rate triglycerides
SCNN1B	SCNN1B	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	Liddle syndrome 1 bronchiectasis with or without elevated sweat chloride 1	cystic fibrosis hypertensive disease lung diseases pseudohypoaldosteronism liddle syndrome pseudohypoaldosteronism type i pulmonary cystic fibrosis platelet function tests
SCNN1D	SCNN1D	Not Detected	Not Detected	Not Detected
SLC26A1	SLC26A1	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	Not Detected	hyperoxaluria
TMC3	TMC3	Not Detected	Not Detected	forced expiratory volume platelet function tests
TMC4	TMC4	Not Detected	Not Detected	platelet function tests
TMC7	TMC7	Male infertility Female infertility	Not Detected	Not Detected
TMEM63A	TMEM63A	Hypocalcemia Hypertriglyceridemia Elevated tissue non-specific alkaline phosphatase Elevated serum creatinine fusion of vertebral arches polysyndactyly vertebral transformation	Not Detected	Not Detected
TMEM63B	TMEM63B	Hyperactivity Behavioral abnormality limb grasping Abnormal cornea morphology preweaning lethality complete penetrance	Not Detected	Not Detected
TMEM63C	TMEM63C	Not Detected	Not Detected	blood pressure
TTYH2	TTYH2	Not Detected	Not Detected	Not Detected
ASIC4	ASIC4	nervous system phenotype decreased vertical activity small superior vagus ganglion hydrometra Decreased basophil count	Not Detected	platelet function tests
CLIC6	CLIC6	Not Detected	Not Detected	Not Detected
GLRA4	GLRA4	Increased LDL cholesterol concentration	Not Detected	Not Detected
GLRB	GLRB	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	hyperekplexia 2	platelet function tests tumor necrosis factor-alpha
GPR89A	GPR89A	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	Not Detected	Not Detected
GRIK3	GRIK3	abnormal CNS synaptic transmission reduced long term potentiation decreased paired-pulse facilitation decreased post-tetanic potentiation	Not Detected	mental depression depressive disorder psychotic disorders schizophrenia
KCNG2	KCNG2	Behavioral abnormality Hypoalbuminemia decreased cardiac stroke volume	Not Detected	platelet function tests
KCNH6	KCNH6	Not Detected	Not Detected	psychotic disorders schizophrenia nonorganic psychosis
KCNH8	KCNH8	Not Detected	Not Detected	Not Detected
KCNJ18	KCNJ18	increased startle reflex cardiovascular system phenotype	Not Detected	thyrotoxic periodic paralysis
KCNT1	KCNT1	abnormal mechanical nociception no abnormal phenotype detected impaired ability to fire action potentials decreased channel response intensity increased pruritus abnormal sensory neuron physiology	epileptic encephalopathy early infantile 14 autosomal dominant nocturnal frontal lobe epilepsy 5	epilepsies partial epileptic encephalopathy autosomal dominant nocturnal frontal lobe epilepsy
KCNV1	KCNV1	Tremor iris synechia Hyperkinesis Ataxia shortened PQ interval	Not Detected	blood coagulation factors blood pressure
LRRC38	LRRC38	Not Detected	Not Detected	Not Detected
PKD1L3	PKD1L3	behavior/neurological phenotype nervous system phenotype taste/olfaction phenotype	Not Detected	alpha-globulins
SCN7A	SCN7A	abnormal taste sensitivity	Not Detected	cholesterol hdl platelet function tests
TMC5	TMC5	Not Detected	Not Detected	Not Detected
TMEM38B	TMEM38B	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	osteogenesis imperfecta type 14	osteogenesis imperfecta osteogenesis imperfecta type xiv platelet function tests
TTYH1	TTYH1	embryonic growth arrest embryonic lethality before implantation complete penetrance abnormal cell nucleus morphology abnormal mitosis increased cell nucleus count	Not Detected	Not Detected
KCNT2	KCNT2	behavior/neurological phenotype no abnormal phenotype detected	Not Detected	arterial pressure macular degeneration
GPR89B	GPR89B	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	Not Detected	Not Detected