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Phenotypes & Diseases
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ACMG actionable genes v3
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Cancer Programme
Pertinent cancer susceptibility gene panel
Adult solid tumours cancer susceptibility
v2.29
Bladder cancer pertinent cancer susceptibility
v1.1
Brain cancer pertinent cancer susceptibility
v1.4
Breast cancer pertinent cancer susceptibility
v2.12
Childhood solid tumours cancer susceptibility
v1.27
Colorectal cancer pertinent cancer susceptibility
v1.0
Endometrial cancer pertinent cancer susceptibility
v1.0
Haematological malignancies cancer susceptibility
v4.5
Head and neck cancer pertinent cancer susceptibility
v1.0
Melanoma pertinent cancer susceptibility
v1.2
Neuroendocrine cancer pertinent cancer susceptibility
v1.4
Ovarian cancer pertinent cancer susceptibility
v2.3
Prostate cancer pertinent cancer susceptibility
v1.2
Renal cancer pertinent cancer susceptibility
v1.2
Sarcoma cancer susceptibility
v1.25
Thyroid cancer pertinent cancer susceptibility
v1.3
Upper gastrointestinal cancer pertinent cancer susceptibility
v1.0
Cardiovascular disorders
Arteriopathies
Familial cerebral small vessel disease
v1.17
Familial hypercholesterolaemia
v1.30
Severe hypertriglyceridaemia
v1.17
Cardiac arrhythmia
Brugada syndrome and cardiac sodium channel disease
v3.10
Catecholaminergic polymorphic VT
v4.6
Idiopathic ventricular fibrillation
v1.2
Long QT syndrome
v3.8
Sudden death in young people
v1.15
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
v3.11
Dilated Cardiomyopathy and conduction defects
v1.94
Dilated and arrhythmogenic cardiomyopathy
v2.31
Hypertrophic cardiomyopathy
v4.13
Left Ventricular Noncompaction Cardiomyopathy
v1.4
Congenital heart disease
Familial non syndromic congenital heart disease
v1.86
Connective tissue disorders and aortopathies
Thoracic aortic aneurysm or dissection
v1.127
Lymphatic Disorders
Primary lymphoedema
v3.11
Pulmonary heart disease
Pulmonary arterial hypertension
v3.5
Ciliopathies
Congenital malformations caused by ciliopathies
Neurological ciliopathies
v4.1
Rare multisystem ciliopathy disorders
v1.172
Renal ciliopathies
v3.6
Skeletal ciliopathies
v4.3
Respiratory ciliopathies
Non-CF bronchiectasis
v1.30
Primary ciliary disorders
v1.42
Dermatological disorders
Atopy
Severe multi-system atopic disease with high IgE
v1.8
Autoimmune skin disorders
Generalised pustular psoriasis
v1.12
Ectodermal dysplasias
Ectodermal dysplasia without a known gene mutation
v1.28
Ichthyoses
Autosomal recessive congenital ichthyosis
v1.14
Keratodermas
Familial disseminated superficial actinic porokeratosis
v1.3
Palmoplantar keratoderma and erythrokeratodermas
v1.31
Skin adnexa disorders
Familial cicatricial alopecia
v1.5
Familial hidradenitis suppurativa
v1.4
Non-syndromic hypotrichosis
v1.13
Skin fragility disorders
Epidermolysis bullosa
v1.11
Peeling skin syndrome
v1.4
Sun-exposure related conditions
Erythropoietic protoporphyria, mild variant
v1.3
Hydroa vacciniforme
v1.2
Dysmorphic and congenital abnormality syndromes
Autophagy disorders
Vici Syndrome and other autophagy disorders
v1.2
DNA repair disorders
Severe microcephaly
v5.7
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
v3.3
Dysmorphic disorders
Clefting
v5.3
Radial dysplasia
v1.24
Fetal disorders
Fetal hydrops
v1.64
Kabuki
Kabuki syndrome
v1.5
Limb disorders
VACTERL-like phenotypes
v1.34
RASopathies
RASopathies
v1.81
Endocrine disorders
Adrenal disorders
Congenital adrenal hypoplasia
v3.11
Disorders of calcium homeostasis
Familial hypoparathyroidism
v2.15
Disorders of unusual phenotypes
Congenital hyperinsulinism
v3.4
Diabetes with additional phenotypes suggestive of a monogenic aetiology
v1.67
Familial diabetes
v1.67
Insulin resistance (including lipodystrophy)
v1.17
Multi-organ autoimmune diabetes
v1.11
Neonatal diabetes
v4.6
Gonadal and sex development disorders
Differences in sex development
v4.6
Primary ovarian insufficiency
v1.68
Growth hormone disorders
IUGR and IGF abnormalities
v1.69
Hypothalamic and pituitary disorders
Hypogonadotropic hypogonadism
v1.41
Obesity syndromes
Severe early-onset obesity
v4.10
Thyroid disorders
Congenital hypothyroidism
v2.18
Hyperthyroidism
v3.4
Endocrinology
Multi locus imprinting disorders
v1.6
Gastroenterological disorders
Gastrointestinal disorders
Familial Hirschsprung Disease
v1.10
Gastrointestinal epithelial barrier disorders
v1.75
Gastrointestinal neuromuscular disorders
v1.23
Infantile enterocolitis & monogenic inflammatory bowel disease
v1.44
Non-syndromic familial congenital anorectal malformations
v1.9
Liver disease
Neonatal cholestasis
v1.26
Growth disorders
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
v1.120
Growth restriction
Silver Russell syndrome
v1.13
Haematological and immunological disorders
Haemostasis disorders
Inherited bleeding disorders
v1.178
Haematological disorders
Anaemias and red cell disorders
Cytopenias and congenital anaemias
v1.118
Hereditary Erythrocytosis
v2.6
Haemostasis disorders
Thrombocythaemia
v1.5
Primary immunodeficiency disorders
A- or hypo-gammaglobulinaemia
v1.25
Agranulocytosis
v1.3
Autoinflammatory disorders
v2.3
Combined B and T cell defect
v1.12
Congenital neutropaenia
v1.22
SCID
v1.6
Hearing and ear disorders
Deafness and congenital structural abnormalities
Deafness and congenital structural abnormalities
v1.27
Non-syndromic hearing loss
Auditory Neuropathy Spectrum Disorde
v1.9
Monogenic hearing loss
v4.41
Other hearing and ear disorders
Familial Meniere Disease
v1.3
Metabolic disorders
Lysosomal storage disorders
Mucopolysaccharideosis, Gaucher, Fabry
v1.2
Mitochondrial
Mitochondrial disorders
v6.4
Peroxisomal disorders
Peroxisomal disorders
v1.19
Specific metabolic abnormalities
Cerebral folate deficiency
v1.2
Congenital disorders of glycosylation
v5.3
Ketotic hypoglycaemia
v1.9
Undiagnosed metabolic disorders
v1.617
Urea Cycle disorders
Hyperammonaemia
v1.21
Neurology and neurodevelopmental disorders
Cerebrovascular disorders
Cerebral vascular malformations
v3.16
Channelopathies
Brain channelopathy
v1.80
Pain syndromes
v1.12
Skeletal Muscle Channelopathies
v1.46
Inherited Epilepsy Syndromes
Early onset or syndromic epilepsy
v5.13
Epileptic encephalopathy
v1.132
Familial Focal Epilepsies
v1.9
Familial Genetic Generalised Epilepsies
v1.23
Genetic Epilepsies with Febrile Seizures Plus (GEFS+)
v1.9
Motor Disorders of the CNS
Cerebellar hypoplasia
v1.73
Early onset dystonia
v1.147
Hereditary ataxia
v1.332
Hereditary spastic paraplegia
v1.311
Neurotransmitter disorders
v1.9
Structural basal ganglia disorders
v1.39
Motor and Sensory Disorders of the PNS
Hereditary neuropathy
v1.478
Paediatric motor neuronopathies
v3.7
Neurodegenerative disorders
Amyotrophic lateral sclerosis/motor neuron disease
v1.69
Early onset dementia (encompassing fronto-temporal dementia and prion disease)
v1.83
Parkinson Disease and Complex Parkinsonism
v1.121
Neurodevelopmental disorders
Classical tuberous sclerosis
v1.2
Holoprosencephaly - NOT chromosomal
v4.9
Intellectual disability
v6.16
Malformations of cortical development
v5.5
Neuromuscular disorders
Acute rhabdomyolysis
v1.18
Arthrogryposis
v6.7
Congenital muscular dystrophy
v4.24
Congenital myaesthenic syndrome
v4.6
Congenital myopathy
v4.38
Distal myopathies
v4.3
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
v4.33
Rhabdomyolysis and metabolic muscle disorders
v4.4
Parenchymal brain disorders
Intracerebral calcification disorders
v1.35
Sleep disorders
Kleine-Levin syndrome
v1.7
White matter disorders
Inherited white matter disorders
v1.180
Ophthalmological disorders
Anterior segment abnormalities
Bilateral congenital or childhood onset cataracts
v4.14
Corneal abnormalities
v1.13
Glaucoma (developmental)
v1.45
Ocular malformations
Anophthalmia or microphthalmia
v1.51
Ocular coloboma
v1.47
Ocular movement disorders
Infantile nystagmus
v1.10
Posterior segment abnormalities
Optic neuropathy
v4.30
Retinal disorders
v5.6
Renal and urinary tract disorders
Renal superpanel - broad
v20.5
Renal superpanel - narrow
v17.3
Disorders of function
Extreme early-onset hypertension
v1.21
Nephrocalcinosis or nephrolithiasis
v4.13
Renal tubulopathies
v4.17
Unexplained kidney failure in young people
v1.119
Structural renal and urinary tract disease
CAKUT
v1.177
Cystic kidney disease
v5.3
Syndromes with prominent renal abnormalities
Atypical haemolytic uraemic syndrome
v3.3
Haematuria
v2.13
Membranoproliferative glomerulonephritis including C3 glomerulopathy
v3.3
Proteinuric renal disease
v4.12
Respiratory disorders
Interstitial lung disorders
Familial pulmonary fibrosis
v1.31
Pulmonary fibrosis familial
v1.7
Structural lung disorders
Pneumothorax - familial
v3.5
Vascular lung disorders
Hereditary haemorrhagic telangiectasia
v3.6
Rheumatological disorders
Connective tissues disorders
Ehlers Danlos syndrome with a likely monogenic cause
v3.12
Multi-system inflammatory/autoimmune disorders
Periodic fever syndromes
v1.33
Skeletal disorders
Choanal anomalies
Choanal atresia
v1.16
Craniosynostosis syndromes
Rare syndromic craniosynostosis or isolated multisuture synostosis
v5.1
Skeletal dysplasias
Amelogenesis imperfecta
v3.3
Chondrodysplasia punctata
v1.5
Multiple Epiphyseal Dysplasia
v1.6
Osteogenesis imperfecta
v4.5
Osteopetrosis
v1.34
Skeletal dysplasia
v5.4
Stickler syndrome
v4.4
Thoracic dystrophies
v1.20
Tumour syndromes
Breast and endocrine
Familial breast cancer
v1.20
Inherited non-medullary thyroid cancer
v1.7
Inherited ovarian cancer (without breast cancer)
v4.3
Inherited phaeochromocytoma and paraganglioma
v1.11
Multiple endocrine tumours
v1.14
Parathyroid Cancer
v1.4
Childhood Tumours
Childhood solid tumours
v4.18
GI tract
GI tract tumours
v1.22
Muscle and nerve
Familial Tumours Syndromes of the central & peripheral Nervous system
v1.14
Familial rhabdomyosarcoma
v1.5
Neurofibromatosis Type 1
v1.32
Skin
Genodermatoses with malignancies
v1.10
Tumour syndromes
Adult solid tumours for rare disease
v1.40
Haematological malignancies for rare disease
v1.18
Viral research
COVID-19 research
v1.142
not grouped
APC associated Polyposis
v1.1
Acute intermittent porphyria
v1.1
Additional findings health related - CNV analysis adult specific
v1.2
Additional findings health related - CNV analysis adults
v2.2
Additional findings health related - CNV analysis children
v1.0
Additional findings health related - adult specific
v1.2
Additional findings health related - adults
v2.2
Additional findings health related - children
v1.0
Additional findings reproductive carrier status
v1.0
Adult onset dystonia, chorea or related movement disorder
v3.19
Adult onset hereditary spastic paraplegia
v4.3
Adult onset leukodystrophy
v4.3
Adult onset neurodegenerative disorder
v5.3
Agammaglobulinaemia with absent BTK expression
v1.1
Albinism or congenital nystagmus
v3.5
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
v1.1
Alstrom syndrome
v1.1
Alveolar capillary dysplasia with misalignment of pulmonary veins
v1.2
Ataxia and cerebellar anomalies - narrow panel
v5.3
Ataxia telangiectasia - mutation testing
v1.1
Autoimmune Polyendocrine Syndrome
v1.1
Autoimmune lymphoproliferative syndrome with defective apoptosis
v1.1
Autosomal recessive primary hypertrophic osteoarthropathy
v1.12
BAP1 associated tumour predisposition syndrome
v1.1
Bardet Biedl syndrome
v2.4
Barth syndrome
v1.2
Beckwith-Wiedemann syndrome
v1.1
Bleeding and platelet disorders
v3.10
Blepharophimosis ptosis and epicanthus inversus
v1.1
CADASIL
v1.4
Calcium-sensing receptor phenotypes
v1.1
Cardiac arrhythmias
v13.37
Cardiac arrhythmias - additional genes
v3.3
Carney complex
v1.1
Central congenital hypoventilation
v1.1
Cerebral malformation
v11.12
Childhood onset dystonia, chorea or related movement disorder
v4.3
Childhood onset hereditary spastic paraplegia
v5.3
Childhood onset leukodystrophy
v19.25
Cholestasis
v3.4
Cleidocranial Dysplasia
v1.4
Combined factor V and VIII deficiency
v1.10
Combined vitamin K-dependent clotting factor deficiency
v1.1
Common craniosynostosis syndromes
v1.15
Confirmed Fanconi anaemia or Bloom syndrome
v2.6
Congenital adrenal hyperplasia diagnostic test
v1.1
Congenital fibrosis of the extraocular muscles
v1.16
Corneal dystrophy
v3.10
Currarino triad
v1.1
Cutaneous photosensitivity with a likely genetic cause
v3.5
Cystic fibrosis diagnostic test
v1.1
Cystic renal disease
v8.7
Cystinosis
v1.1
Cytopenia - NOT Fanconi anaemia
v3.34
DDG2P
v4.3
DICER1-related cancer predisposition
v1.1
Duchenne or Becker muscular dystrophy
v1.1
Ductal plate malformation
v1.29
Ectodermal dysplasia
v3.29
Elastin-related phenotypes
v1.1
Endocrine neoplasia
v3.3
Epidermodysplasia verruciformis
v1.6
Epidermolysis bullosa and congenital skin fragility
v2.7
Fabry disease
v1.1
Facioscapulohumeral muscular dystrophy - extended testing
v1.1
Factor II deficiency
v1.1
Factor IX deficiency
v1.1
Factor V deficiency
v1.1
Factor VII deficiency
v1.1
Factor VIII deficiency
v1.1
Factor X deficiency
v1.1
Factor XI deficiency
v1.1
Factor XIII deficiency
v1.1
Familial chylomicronaemia syndrome (FCS)
v3.3
Familial dysalbuminaemic hyperthyroxinaemia
v1.1
Familial dysautonomia
v1.17
Familial hypercholesterolaemia (GMS)
v2.4
Familial hyperparathyroidism or hypocalciuric hypercalcaemia
v3.6
Familial melanoma
v2.4
Familial prostate cancer
v1.3
Familial tumoral calcinosis
v1.10
Familial tumours of the nervous system
v2.1
Fetal anomalies
v4.3
Fumarate hydratase-related tumour syndromes
v1.1
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
v1.1
Gaucher disease
v1.1
Generalised arterial calcification in infancy
v1.1
Glucokinase-related fasting hyperglycaemia
v1.1
Glutaric acidaemia I
v1.1
Glycogen storage disease
v2.4
Glycogen storage disease V
v1.1
Growth failure in early childhood
v3.96
Haemoglobinopathy trait or carrier testing
v1.9
Haemophagocytic syndrome with absent XIAP expression
v1.1
Haemophagocytic syndrome with absent perforin expression
v1.2
Hereditary alpha tryptasaemia
v1.3
Hereditary angioedema types I and II
v1.1
Hereditary ataxia and cerebellar anomalies - childhood onset
v15.7
Hereditary ataxia with onset in adulthood
v5.3
Hereditary diffuse gastric cancer
v2.1
Hereditary isolated diabetes insipidus
v2.1
Hereditary neuropathy or pain disorder
v4.11
Hereditary systemic amyloidosis
v1.21
Hirschsprung disease
v1.1
Hydrocephalus
v4.6
Hypogonadotropic hypogonadism (GMS)
v3.18
Hypophosphataemia or rickets
v3.4
Hypotonic infant
v29.24
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
v1.1
Ichthyosis and erythrokeratoderma
v3.28
Incontinentia pigmenti
v1.2
Inherited MMR deficiency (Lynch syndrome)
v1.12
Inherited breast cancer and ovarian cancer
v2.11
Inherited pancreatic cancer
v2.7
Inherited parathyroid cancer
v1.1
Inherited phaeochromocytoma and paraganglioma excluding NF1
v2.8
Inherited polyposis and early onset colorectal cancer - germline testing
v2.11
Inherited predisposition to GIST
v1.14
Inherited predisposition to acute myeloid leukaemia (AML)
v3.3
Inherited prostate cancer
v1.4
Inherited renal cancer
v1.27
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)
v1.1
Intestinal failure or congenital diarrhoea
v3.3
Iron metabolism disorders - NOT common HFE mutations
v2.6
Krabbe disease - GALC deficiency
v1.1
Krabbe disease - Saposin A deficiency
v1.1
Laterality disorders and isomerism
v3.15
Leber hereditary optic neuropathy
v2.9
Li Fraumeni Syndrome
v1.3
Likely inborn error of metabolism - targeted testing not possible
v5.3
Limb disorders
v5.4
Lipodystrophy - childhood onset
v4.52
Lymphoproliferative syndrome with absent SAP expression
v1.1
Lysosomal acid lipase deficiency
v1.1
Lysosomal storage disorder
v3.3
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
v1.1
Malignant hyperthermia
v1.3
Mitochondrial Complex V deficiency, TMEM70 type
v1.1
Mitochondrial DNA maintenance disorder
v3.6
Mitochondrial disorder with complex I deficiency
v3.8
Mitochondrial disorder with complex II deficiency
v2.10
Mitochondrial disorder with complex III deficiency
v2.5
Mitochondrial disorder with complex IV deficiency
v3.21
Mitochondrial disorder with complex V deficiency
v2.16
Mitochondrial liver disease, including transient infantile liver failure
v1.12
Mitochondrial neurogastrointestinal encephalopathy
v1.1
Monitoring for G(M)CSF escape mutations
v1.1
Monogenic diabetes
v2.58
Monogenic nephrogenic diabetes insipidus
v1.11
Mosaic skin disorders - deep sequencing
v2.47
Mucolipidosis II and III Alpha or Beta
v1.1
Mucopolysaccharidosis type IH or S
v1.1
Mucopolysaccharidosis type II
v1.1
Mucopolysaccharidosis type IIIA
v1.1
Mucopolysaccharidosis type IIIB
v1.1
Mucopolysaccharidosis type IVA
v1.1
Mucopolysaccharidosis type VI
v1.1
Multiple endocrine neoplasia type 2
v1.1
Multiple exostoses
v1.1
Multiple lipomas
v1.1
Multiple monogenic benign skin tumours
v2.4
NARP syndrome or maternally inherited Leigh syndrome
v1.3
Neonatal diabetes - small panel
v1.3
Neurofibromatosis type 1 (GMS)
v1.1
Neurological segmental overgrowth
v2.13
Neuronal ceroid lipofuscinosis
v2.6
Neuronal ceroid lipofuscinosis type 2
v1.1
Neutropaenia consistent with ELANE mutations
v1.1
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
v1.1
Niemann Pick disease type C
v1.1
Niemann-Pick disease type A or B
v1.1
Nijmegen breakage syndrome
v1.1
Non-acute porphyrias
v1.24
Ocular and oculo-cutaneous albinism
v1.23
Ophthalmological ciliopathies
v4.1
Other rare neuromuscular disorders
v21.9
POLG-related disorder
v1.1
PTEN Hamartoma Tumor Syndrome
v1.1
Paediatric disorders
v45.44
Paediatric disorders - additional genes
v4.3
Paediatric or syndromic cardiomyopathy
v4.6
Paediatric pseudo-obstruction syndrome
v1.5
Palmoplantar keratodermas
v3.25
Pancreatitis
v3.4
Paroxysmal central nervous system disorders
v3.10
Peutz Jeghers Syndrome
v1.1
Phenylketonuria
v1.1
Pigmentary skin disorders
v3.12
Pituitary hormone deficiency
v3.12
Pityriasis rubra pilaris
v1.2
Polycystic liver disease
v1.31
Possible mitochondrial disorder - nuclear genes
v3.106
Primary hyperaldosteronism - KCNJ5
v1.1
Primary immunodeficiency or monogenic inflammatory bowel disease
v5.3
Primary pigmented nodular adrenocortical disease
v1.10
Progressive cardiac conduction disease
v2.8
Pseudoxanthoma elasticum
v1.1
Pulmonary alveolar microlithiasis
v1.1
Pyruvate dehydrogenase (PDH) deficiency
v1.36
Rare anaemia
v3.8
Rare genetic inflammatory skin disorders
v3.19
Rare multisystem ciliopathy Super panel
v15.5
Respiratory ciliopathies including non-CF bronchiectasis
v3.11
Retinoblastoma
v1.1
Rhabdoid tumour predisposition
v1.8
SCID with features of gamma chain deficiency
v1.1
Sandhoff disease
v1.1
Sarcoma susceptibility
v1.81
Segmental or atypical neurofibromatosis type 1 testing
v1.1
Segmental overgrowth disorders - Deep sequencing
v3.17
Severe Paediatric Disorders
v1.184
Severe combined immunodeficiency with PNP deficiency
v1.1
Severe combined immunodeficiency with adenosine deaminase deficiency
v1.3
Short QT syndrome
v3.12
Short stature - SHOX deficiency
v1.1
Sitosterolaemia
v1.1
Skeletal muscle channelopathy
v3.5
Smith-Lemli-Opitz syndrome
v1.1
Spinal muscular atrophy type 1 rare mutation testing
v1.1
Sporadic aniridia
v3.5
Structural eye disease
v3.79
Subcutaneous panniculitis T-cell lymphoma (SPTCL)
v1.1
Sudden unexplained death or survivors of a cardiac event
v19.86
Surfactant deficiency
v1.11
Syndromic and non syndromic craniosynostosis involving midline sutures
v1.1
Tay-Sachs disease
v1.1
Thalassaemia and other haemoglobinopathies
v1.9
Thanatophoric dysplasia
v1.1
Thiamine metabolism dysfunction syndrome 2
v1.1
Thoracic aortic aneurysm or dissection (GMS)
v3.11
Thrombophilia with a likely monogenic cause
v2.5
Tuberous sclerosis
v1.1
Tubulointerstitial kidney disease
v3.3
Unexplained death in infancy and sudden unexplained death in childhood
v9.37
Unexplained young onset end-stage renal disease
v4.3
Van der Woude syndrome
v1.1
Variegate porphyria
v1.1
Vascular skin disorders
v1.63
Von Hippel Lindau syndrome
v1.1
Von Willebrand disease
v1.1
White matter disorders and cerebral calcification - narrow panel
v4.3
Wilms tumour with features suggestive of predisposition
v1.3
Wilson disease
v1.1
Wiskott-Aldrich syndrome
v1.1
Molecular Function & Pathways
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GeneOntology
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WikiPathways
GeneOntology
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Reactome
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WikiPathways
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Interactions
search for protein-protein interactions
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Interaction partners as NCBI gene IDs, ENSEMBL IDs or HGNC gene symbols
Expression
restrict your search to genes expressed in specific organs or tissues
Developmental stage
adult
fetal
Experimental method
RNA-Seq
RNA-CAGE
protein expression
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Tissue selection
Organs
brain
eye
gallbladder
gastrointestinal tract
heart
kidney
liver
lung
olfactory apparatus
reproductive organs
Systems
circulatory/respiratory system
endocrine system
food intake/digestion
immune system
nervous system
reproductive system
urinary system
Tissues
adipose tissue
bone marrow
cellular
mammary tissue
muscle
oral mucosa
placenta
skin
soft tissue
spinal tissue
throat
Cellular Localisation
restrict your search to genes/proteins within cellular compartments
Select protein localisation here or use GO terms under 'Molecular function'.
cell
cell surface
plasma membrane
intracellular part
ubiquitin ligase complex
proteasome complex
cytoskeleton
nucleus
nuclear membrane
nuclear chromosome
nucleoplasm
cytoplasmic part
cytosol
signal recognition particle
inclusion body
glycosome
peroxisome
endosome
lysosome
stored secretory granule
cytoplasmic vesicle
glycogen granule
lipid particle
contractile fiber
Golgi apparatus
Golgi-associated vesicle
Golgi lumen
Golgi membrane
endoplasmic reticulum
endoplasmic reticulum lumen
endoplasmic reticulum membrane
smooth endoplasmic reticulum
rough endoplasmic reticulum
ribosome
mitochondrion
mitochondrial matrix
mitochondrial membrane
cell projection
extracellular matrix
proteinaceous extracellular matrix
basement membrane
basal lamina
extracellular space
fibrinogen complex
immunoglobulin complex, circulating
plasma lipoprotein particle
synapse
neuromuscular junction
inhibitory synapse
excitatory synapse
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Display Options
NCBI synonyms
NCBI GeneRIFs
Uniprot & PDB
Transcripts (ENSEMBL)
Paralogs / sequence similarity (from ENSEMBL)
Protein domains (InterPro)
Protein domains (PFAM)
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