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Gene dossier Disorders Genes
Anaemia Syndromes, Congenital, 33 Gene Panel

Oxford Haemoglobinopathy - 2014

  • Anaemia, Congenital Dyserythropoietic, Type Ia
    • Anaemia, Congenital Dyserythropoietic, Type I
    • Anemia, Congenital Dyserythropoietic, Type I
    • Anemia, Congenital Dyserythropoietic, Type Ia
    • Dyserythropoietic Anaemia, Congenital, Type Ia
    • Dyserythropoietic Anemia, Congenital, Type Ia
  • Anaemia, Congenital Dyserythropoietic, Type II
    • Anemia, Congenital Dyserythropoietic, Type II
    • Dyserythropoietic Anaemia, Congenital, Type II
    • Dyserythropoietic Anaemia, Hempas Type
    • Dyserythropoietic Anemia, Congenital, Type II
    • Dyserythropoietic Anemia, Hempas Type
    • Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test
  • Anaemia, Congenital Dyserythropoietic, Type IV
    • Anemia, Congenital Dyserythropoietic, Type IV
    • CDA, Type IV
  • Anemia, Sideroblastic, 2, Pyridoxine-Refractory
    • Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
  • Anemia, Sideroblastic, X-Linked
    • Anaemia, Hereditary Sideroblastic
    • Anaemia, Hypochromic
    • Anaemia, Sideroblastic, X-Linked
    • Anemia, Hereditary Sideroblastic
    • Anemia, Hypochromic
    • Hereditary Iron-Loading Anaemia
    • Hereditary Iron-Loading Anemia
  • Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
  • Diamond-Blackfan Anaemia 1
    • AASE Syndrome
    • AASE-Smith Syndrome II
    • Anaemia, Congenital Erythroid Hypoplastic
    • Anaemia, Congenital Hypoplastic, Of Blackfan And Diamond
    • Anemia, Congenital Erythroid Hypoplastic
    • Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
    • Aregenerative Anaemia, Chronic Congenital
    • Blackfan-Diamond Syndrome
    • Diamond-Blackfan Anemia 1
    • Erythrogenesis Imperfecta
    • Red Cell Aplasia, Pure, Hereditary
  • Diamond-Blackfan Anaemia 10
    • Diamond-Blackfan Anemia 10
  • Diamond-Blackfan Anaemia 11
    • Diamond-Blackfan Anemia 11
  • Diamond-Blackfan Anaemia 12
    • Diamond-Blackfan Anemia 12
  • Diamond-Blackfan Anaemia 13
    • Diamond-Blackfan Anemia 13
  • Diamond-Blackfan Anaemia 3
    • Diamond-Blackfan Anaemia 3
  • Diamond-Blackfan Anaemia 4
    • Diamond-Blackfan Anemia 4
  • Diamond-Blackfan Anaemia 5
    • Diamond-Blackfan Anemia 5
  • Diamond-Blackfan Anaemia 6
    • AASE-Smith Syndrome II
    • Diamond-Blackfan Anemia 6
  • Diamond-Blackfan Anaemia 7
    • Diamond-Blackfan Anemia 7
  • Diamond-Blackfan Anaemia 8
    • Diamond-Blackfan Anemia 8
  • Diamond-Blackfan Anaemia 9
    • Diamond-Blackfan Anemia 9
  • Dyskeratosis Congenita, Autosomal Dominant, 1
    • Dyskeratosis Congenita, Scoggins Type
  • Dyskeratosis Congenita, Autosomal Dominant, 2
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • Dyskeratosis Congenita, Autosomal Recessive, 1
  • Dyskeratosis Congenita, Autosomal Recessive, 2
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Glucose-6-Phosphate Dehydrogenase Deficiency
    • Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency, Included
  • Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
  • Pyruvate Kinase Deficiency Of Red Cells
    • PK deficiency
    • Pyruvate Kinase Deficiency Of Erythrocyte
  • Shwachman-Diamond Syndrome
    • Lipomatosis Of Pancreas, Congenital
    • Pancreatic Insufficiency And Bone Marrow Dysfunction
    • Shwachman-Bodian Syndrome
  • Uridine 5-Prime Monophosphate Hydrolase Deficiency, Haemolytic Anaemia Due To
    • Haemolytic Anaemia Due To P5N Deficiency
    • Haemolytic Anaemia Due To UMPH1 Deficiency
    • Hemolytic Anemia Due To P5N Deficiency
    • Hemolytic Anemia Due To UMPH1 Deficiency
    • P5N Deficiency
    • Pyrimidine 5-Prime Nucleotidase Deficiency, Haemolytic Anaemia Due To
    • Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due To
    • UMPH1 Deficiency
    • Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
  • 5'-aminolevulinate synthase 2
    • 5-aminolevulinate synthase, erythroid-specific
    • ALAS, erythroid
    • aminolevulinate, delta-, synthase 2
    • aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
  • 5'-nucleotidase, cytosolic IIIA
    • 5'-nucleotidase, cytosolic III
    • 5-prime-nucleotidase, cytosolic IIIA
    • nucleotidase, 5-prime, cytosolic III
    • pyrimidine 5-prime-nucleotidase 1
    • uridine 5-prime monophosphate hydrolase 1
  • chromosome 15 open reading frame 41
  • codanin 1
    • congenital dyserythropoietic anemia, type I
    • discs lost, drosophila, homolog of
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • GATA binding protein 1
    • erythroid transcription factor 1
    • GATA -binding protein 1
    • GATA binding protein 1 (globin transcription factor 1)
    • GATA-binding protein 1 (globin transcription factor 1)
    • globin transcription factor 1
    • transcription factor GATA1
  • glucose-6-phosphate dehydrogenase
    • anaemia, nonspherocytic hemolytic, due to g6pd deficiency
    • anemia, nonspherocytic hemolytic, due to g6pd deficiency
  • kinesin family member 23
    • kinesin-like 5
    • kinesin-like 5 (mitotic kinesin-like protein 1)
    • mitotic kinesin-like 1
    • ZEN4, c. elegans, homolog of
  • Kruppel-like factor 1
    • erythroid Kruppel-like factor
    • Kruppel-like factor 1 (erythroid)
  • NHP2 ribonucleoprotein
    • NHP2 ribonucleoprotein homolog (yeast)
    • NHP2, s. cerevisiae, homolog of
    • nucleolar protein family A, member 2
    • nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)
  • NOP10 ribonucleoprotein
    • NOP10 ribonucleoprotein homolog (yeast)
    • NOP10, s. cerevisiae, homolog of
    • nucleolar protein family A, member 3
    • nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)
  • pyruvate kinase, liver and RBC
    • pyruvate kinase 1
    • pyruvate kinase, liver type
    • pyruvate kinase, red cell type
  • ribosomal protein L11
  • ribosomal protein L19
  • ribosomal protein L26
  • ribosomal protein L27
  • ribosomal protein L35a
  • ribosomal protein L5
  • ribosomal protein L9
  • ribosomal protein S10
  • ribosomal protein S17
    • ribosomal protein S17-like
  • ribosomal protein S19
  • ribosomal protein S24
  • ribosomal protein S26
  • ribosomal protein S27
    • metallopanstimulin 1
    • ribosomal protein S27 (metallopanstimulin 1)
  • ribosomal protein S29
  • ribosomal protein S7
  • SBDS, ribosome maturation factor
    • SBDS ribosome assembly guanine nucleotide exchange factor
    • Shwachman-Bodian-Diamond syndrome
  • Sec23 homolog B, coat complex II component
    • congenital dyserythropoietic anemia, type II
    • Sec23 (S. cerevisiae) homolog B
    • Sec23 homolog B (S. cerevisiae)
  • solute carrier family 25 member 38
  • telomerase reverse transcriptase
    • telomerase catalytic subunit
  • telomerase RNA component
    • telomerase RNA candidate 3
  • TERF1 interacting nuclear factor 2
    • TERF1 (TRF1)-interacting nuclear factor 2
    • TRF1-interacting nuclear factor 2
Angioedema, Hereditary, Type I

Cardiff SAS Porphyria - 2010

  • Angioedema, Hereditary, Type I
    • Angioedema, Hereditaryi
    • Angioneurotic Edema, Hereditary
    • C1 Esterase Inhibitor, Deficiency Of
  • serpin family G, member 1
    • angioedema, hereditary
    • complement component 1 inhibitor
    • plasma protease C1 inhibitor
    • serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Angioedema, Hereditary, Type III

Cardiff SAS Porphyria - 2013

  • Angioedema, Hereditary, Type III
    • Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function
    • Estrogen-Related HAE
    • Estrogen-Sensitive HAE
    • HAE With Normal C1 Inhibitor Concentration And Function
    • Hereditary Angioedema With Normal C1 Inhibitor Activity
  • coagulation factor XII
    • coagulation factor XII (Hageman factor)
    • Hageman factor
Apert Syndrome (NIPD)

London North East RGC GOSH - 2014

  • Apert Syndrome
    • Acrocephalosyndactyly, Type I
    • Acrocephalosyndactyly, Type II, Included
    • Acs I
    • Acs II, Included
    • Apert-Crouzon Disease
    • Vogt Cephalodactyly, Included
  • fibroblast growth factor receptor 2
    • bek, mouse, homolog of, included
    • fgf receptor
    • fibroblast growth factor receptor 2
    • fibroblast growth factor receptor bek, included
    • keratinocyte growth factor receptor, included
    • protein tyrosine kinase, receptor-like, 14
Arrhythmogenic Right Ventricular Dysplasia

Oxford RGC - 2009

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
    • Arrhythmogenic Right Ventricular Cardiomyopathy 10
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
    • Arrhythmogenic Right Ventricular Cardiomyopathy 8
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
    • Arrhythmogenic Right Ventricular Cardiomyopathy 9
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmoglein 2
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • plakophilin 2
Arterial Calcification, Generalized, Of Infancy, 2

Exeter RGC - 2013

  • Arterial Calcification, Generalized, Of Infancy, 2
  • ATP-binding cassette, sub-family C, member 6
    • anthracycline resistance-associated protein
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    • multidrug resistance-associated protein 6
    • pseudoxanthoma elasticum
Arthrogryposis, Distal, Type 1a and 2b

Bristol RGC - 2013

  • Arthrogryposis, Distal, Type 1a
    • Arthrogryposis Multiplex Congenita, Distal, Type I
    • Arthrogryposis, Distal, Type 1
  • tropomyosin 2
    • arthrogryposis multiplex congenital, distal, type 1
    • tropomyosin 2 (beta)
    • tropomyosin, skeletal muscle beta
Arthrogryposis, Distal, Type 1a and 2b

Bristol RGC - 2013

  • Arthrogryposis, Distal, Type 2b
    • Arthrogryposis Multiplex Congenita, Distal, Type 2B
    • Arthrogryposis Multiplex Congenita, Distal, Type II, With Craniofacial Abnormalities
    • Freeman-Sheldon Syndrome Variant
    • Sheldon-Hall Syndrome
  • tropomyosin 2
    • arthrogryposis multiplex congenital, distal, type 1
    • tropomyosin 2 (beta)
    • tropomyosin, skeletal muscle beta
Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Birmingham RGC - 2008

  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • VPS33B, late endosome and lysosome associated
    • vacuolar protein sorting 33 homolog B (yeast)
Ataxia, Hereditary, 57 Gene Panel

Oxford RGC - 2014

  • Achalasia-Addisonianism-Alacrima Syndrome
    • ACTH-Resistant Adrenal Insufficiency, Achalasia And Alacrima
    • Addisonian-Achalasia Syndrome
    • Alacrima-Achalasia-Addisonianism
    • Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
    • Allgrove Syndrome
    • Glucocorticoid Deficiency And Achalasia
    • Hypoadrenalism With Achalasia
    • Triple-A Syndrome
  • Anaemia, Sideroblastic, And Spinocerebellar Ataxia
    • Anemia, Sideroblastic, And Spinocerebellar Ataxia
  • Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
    • Ataxia-Oculomotor Apraxia 1
    • Ataxia-Oculomotor Apraxia Syndrome
    • Ataxia-Telangiectasia-Like Syndrome
    • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
  • Ataxia, Sensory, 1, Autosomal Dominant
  • Ataxia-Oculomotor Apraxia 3
  • Ataxia-Telangiectasia-Like Disorder 1
    • Ataxia-Telangiectasia-Like Disorder
  • Cerebellar Ataxia, Cayman Type
  • Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
  • Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
    • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
    • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive
    • Cerebellar Hypoplasia, VLDLR-Associated
    • Dysequilibrium Syndrome
  • Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
    • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 2
  • Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
    • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 4
  • Cerebrotendinous Xanthomatosis
    • Cerebral Cholesterinosis
  • Charcot-Marie-Tooth Disease, Axonal, Type 2N
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2N
    • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2N
  • Coenzyme Q10 Deficiency, Primary, 4
    • Spinocerebellar Ataxia, Autosomal Recessive 9
  • Congenital Disorder Of Glycosylation, Type Iq
    • Coloboma, Ocular, With Ichthyosis, Brain Malformations, And Endocrine Abnormalities CDG Iq
  • Dystonia 9
    • Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity
    • Choreoathetosis/Spasticity, Episodic
    • CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia
  • Epilepsy, Idiopathic Generalized, Susceptibility To, 12
  • Epilepsy, Progressive Myoclonic, 6
  • Episodic Ataxia, Type 1
    • Ataxia, Episodic, With Myokymia
    • Continuous Muscle Fiber Activity, Hereditary, Included
    • Episodic Ataxia With Myokymia
    • Isaacs-Mertens Syndrome, Included
    • Myokymia With Periodic Ataxia
    • Myokymia, Included
    • Paroxysmal Ataxia With Neuromyotonia, Hereditary
  • Episodic Ataxia, Type 2
    • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
    • Apca
    • Ataxia, Episodic, With Nystagmus
    • Ataxia, Familial Paroxysmal
    • Cacna1a-Related Episodic Ataxia Type 2
    • Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
    • Cerebellopathy, Hereditary Paroxysmal
    • Episodic Ataxia, Nystagmus-Associated
  • Episodic Kinesigenic Dyskinesia 1
    • Dystonia 10
    • Dystonia, Familial Paroxysmal
    • Paroxysmal Kinesigenic Choreoathetosis
    • Paroxysmal Kinesigenic Dyskinesia
  • GLUT1 Deficiency Syndrome 1
    • Glucose Transport Defect, Blood-Brain Barrier
  • GLUT1 Deficiency Syndrome 2
    • Dystonia 18
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anaemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anemia
  • Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
    • Mitochondrial Aspartyl-tRNA Synthetase Deficiency
  • Lissencephaly 2
    • Lissencephaly Syndrome, Norman-Roberts Type
    • Norman-Roberts Syndrome
  • Marinesco-Sjogren Syndrome
  • Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
    • Mental Retardation, X-Linked, Syndromic, NAJM Type
    • MICPCH Syndrome
  • Mental Retardation, X-Linked, Syndromic, Christianson Type
    • Angelman-Like Syndrome, X-Linked
    • Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
  • Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
    • Mental Retardation, X-Linked 60, Formerly
  • Mitochondrial Complex IV Deficiency
    • COX Deficiency
    • Cytochrome c Oxidase Deficiency
  • Neurodegeneration Due To Cerebral Folate Transport Deficiency
  • Pettigrew Syndrome
    • Mental Retardation, X-Linked 59
    • Mental Retardation, X-Linked, Syndromic 21
    • Mental Retardation, X-Linked, Syndromic 5
    • Mental Retardation, X-Linked, Syndromic, Fried Type
    • Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
  • Posterior Column Ataxia With Retinitis Pigmentosa
  • Sandhoff Disease
    • Gm2-Gangliosidosis, Type II
    • Hexosaminidases A And B Deficiency
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
    • Sensory Ataxic Neuropathy With Mitochondrial DNA Deletions, Autosomal Recessive
  • Spastic Ataxia 4, Autosomal Recessive
  • Spastic Ataxia 5, Autosomal Recessive
  • Spastic Ataxia, Charlevoix-Saguenay Type
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
    • Charlevoix-Saguenay Spastic Ataxia
    • Spastic Ataxia 6, Autosomal Recessive
  • Spastic Paraplegia 46, Autosomal Recessive
  • Spinocerebellar Ataxia 11
  • Spinocerebellar Ataxia 13
  • Spinocerebellar Ataxia 14
  • Spinocerebellar Ataxia 15
  • Spinocerebellar Ataxia 19
    • Spinocerebellar Ataxia 22
  • Spinocerebellar Ataxia 23
  • Spinocerebellar Ataxia 27
    • Cerebellar Ataxia, Autosomal Dominant, FGF14-Related
  • Spinocerebellar Ataxia 28
  • Spinocerebellar Ataxia 29
    • Aplasia Of Cerebellar Vermis
    • Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant
    • Cerebellar Vermis Aplasia
  • Spinocerebellar Ataxia 35
  • Spinocerebellar Ataxia 5
  • Spinocerebellar Ataxia 6
  • Spinocerebellar Ataxia, Autosomal Recessive 1
    • Ataxia-Ocular Apraxia 2
    • Ataxia-Oculomotor Apraxia 2
  • Spinocerebellar Ataxia, Autosomal Recessive 10
  • Spinocerebellar Ataxia, Autosomal Recessive 11
  • Spinocerebellar Ataxia, Autosomal Recessive 13
  • Spinocerebellar Ataxia, Autosomal Recessive 14
    • Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
  • Spinocerebellar Ataxia, Autosomal Recessive 5
    • Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities
  • Spinocerebellar Ataxia, Autosomal Recessive 8
    • Ataxia, Recessive, Of Beauce
    • Cerebellar Ataxia, Autosomal Recessive, Type 1
  • Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
  • Tay-Sachs Disease
    • B Variant GM2-Gangliosidosis
    • GM2-Gangliosidosis, Type I
    • HEXA deficiency
    • Hexosaminidase A Deficiency
  • Wolfram Syndrome 1
    • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness
    • Wolfram Syndrome
  • adaptor-related protein complex 2, sigma 1 subunit
    • clathrin adaptor complex AP2, sigma subunit
    • clathrin adaptor protein AP17
    • clathrin-associated/assembly/adaptor protein, small 2, 17-kDa
    • hypocalciuric hypercalcemia 3 (Oklahoma type)
  • AFG3 like matrix AAA peptidase subunit 2
    • AFG3 (ATPase family gene 3, yeast)-like 2
    • AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
    • AFG3 ATPase family gene 3-like 2 (yeast)
    • AFG3 ATPase family member 3-like 2 (S. cerevisiae)
    • AFG3-like AAA ATPase 2
    • spinocerebellar ataxia 28
  • aladin WD repeat nucleoporin
    • AAAS gene
    • achalasia, adrenocortical insufficiency, alacrimia
    • achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
    • adracalin
    • aladin
  • alanyl-tRNA synthetase
  • anoctamin 10
    • transmembrane protein 16K
  • aprataxin
    • ataxia 1, early onset with hypoalbuminemia
  • aspartyl-tRNA synthetase 2, mitochondrial
  • ATCAY, caytaxin
    • ataxia, cerebellar, Cayman type
    • caytaxin
  • ATP-binding cassette, sub-family B, member 7
    • ABC transporter 7
    • ATP-binding cassette 7
    • ATP-binding cassette transporter 7
    • ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ATPase phospholipid transporting 8A2
    • ATPase, aminophospholipid transporter, class I, type 8A, member 2
    • ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2
    • ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
    • ATPase, class I, type 8A, member 2
  • calcium voltage-gated channel subunit alpha 1A
    • calcium channel, l type, alpha-1 polypeptide, isoform 4
    • calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    • calcium channel, voltage-dependent, P/Q type, alpha-1A subunit
  • calcium/calmodulin dependent serine protein kinase
    • calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    • CAMGUK, drosophila, homolog of
    • trinucleotide repeat containing 8
    • vertebrate LIN2 homolog
  • coenzyme Q8A
    • aarF domain containing kinase 3
    • chaperone, ABC1 activity of bc1 complex homolog (S. pombe)
    • chaperone, ABC1 activity of bc1 complex like (S. pombe)
    • chaperone-ABC1 (activity of bc1 complex, S.pombe)-like
    • chaperone-activity of BC1 complex-like
    • COQ8, s. cerevisiae, homolog of
  • COX20 cytochrome c oxidase assembly factor
    • COX2 chaperone COX20
    • COX20 Cox2 chaperone homolog (S. cerevisiae)
    • family with sequence similarity 36, member A
  • cytochrome P450, family 27, subfamily A, member 1
    • cytochrome P450, family 27, subfamily A, polypeptide 1
    • cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
    • cytochrome P450, subfamily XXVIIA, polypeptide 1
    • sterol 27-hydroxylase
  • DNA methyltransferase 1
    • CXXC finger protein 9
    • DNA (cytosine-5-)-methyltransferase 1
    • DNA cytosine-5-methyltransferase
    • DNA methyltransferase
  • DNA polymerase gamma, catalytic subunit
    • polg, catalytic subunit
    • polg-alpha
    • polymerase (DNA directed), gamma
    • polymerase, DNA, gamma
    • polymerase, DNA, gamma-1
  • feline leukemia virus subgroup C cellular receptor 1
    • ataxia, posterior column 1, with retinitis pigmentosa
  • fibroblast growth factor 14
    • fibroblast growth factor homologous factor 4
  • folate receptor 1
    • folate receptor
    • folate receptor 1 (adult)
    • folate receptor, alpha
    • folate-binding protein, adult
    • ovarian cancer-associated antigen
  • glucosylceramidase beta 2
    • beta-glucosidase, bile acid
    • bile acid beta-glucosidase
    • glucosidase, beta (bile acid) 2
    • glucosidase, beta, acid 2
    • glucosylceramidase, nonlysosomal
    • spastic paraplegia 46 (autosomal recessive)
  • glutamate metabotropic receptor 1
    • glutamate receptor, metabotropic 1
    • GRM1-alpha
    • MGLUR1-alpha
  • golgi SNAP receptor complex member 2
    • golgi snare, 27-KD
    • membrin
  • hexosaminidase subunit alpha
    • hexosaminidase a (alpha polypeptide)
  • hexosaminidase subunit beta
    • hexosaminidase b (beta polypeptide)
  • inositol 1,4,5-trisphosphate receptor, type 1
    • spinocerebellar ataxia 15
    • spinocerebellar ataxia 16
    • spinocerebellar ataxia 29
  • mitochondrial poly(A) polymerase
    • PAP associated domain containing 1
    • poly(A) polymerase, mitochondrial
    • poly(A) polymerase-associated domain-containing protein 1
  • MRE11 homolog, double strand break repair nuclease
    • meiotic recombination (S. cerevisiae) 11 homolog A
    • MRE11 homolog A, double strand break repair nuclease
    • MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
  • oligophrenin 1
    • mental retardation, X-linked 60
  • phosphoinositide-3-kinase, regulatory subunit 5
  • potassium voltage-gated channel subfamily A member 1
    • kv1.1
    • mk1, mouse, homolog of
    • potassium channel, voltage-gated, shaker-related subfamily, member 1
    • potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
  • potassium voltage-gated channel subfamily D member 3
    • potassium voltage-gated channel, Shal-related subfamily, member 3
    • spinocerebellar ataxia 19
    • spinocerebellar ataxia 22
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
  • prodynorphin
    • enkephalin B
    • preproenkephalin B
    • spinocerebellar ataxia 23
  • proline-rich transmembrane protein 2
  • protein kinase C gamma
  • reelin
  • ring finger protein 170
    • sensory ataxia 1 (autosomal dominant)
  • RUN and cysteine rich domain containing beclin 1 interacting protein
    • KIAA0226 gene
    • RUN domain- and cysteine-rich domain-containing beclin-1-interacting protein
    • rundataxin
  • sacsin molecular chaperone
    • sacsin
    • spastic ataxia of Charlevoix-Saguenay (sacsin)
  • senataxin
    • amyotrophic lateral sclerosis 4
    • spinocerebellar ataxia, recessive, non-Friedreich type 1
  • SIL1 nucleotide exchange factor
    • BIP-associated protein
    • Marinesco-Sjogren syndrome
    • SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
    • SIL1, s. cerevisiae, homolog of
  • solute carrier family 2 member 1
    • erythrocyte/hepatoma glucose transporter
    • glucose transporter 1
    • solute carrier family 2 (facilitated glucose transporter), member 1
  • solute carrier family 9 member A6
    • sodium/hydrogen exchanger 6
    • solute carrier family 9 (sodium/hydrogen exchanger), isoform 6
    • solute carrier family 9 (sodium/hydrogen exchanger), member 6
    • solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
  • spectrin repeat containing, nuclear envelope 1
    • chromosome 6 open reading frame 98
    • nesprin 1
    • nuclear envelope spectrin repeat protein 1
    • synaptic nuclear envelope protein 1
  • spectrin, beta, non-erythrocytic 2
    • glutamate transporter EAAT4-associated protein 41
    • spectrin, beta-III
    • spinocerebellar ataxia 5
  • steroid 5 alpha-reductase 3
    • polyprenol reductase
    • steroid 5-alpha-reductase 2-like 1
  • synaptotagmin 14
    • synaptotagmin XIV
  • TAU tubulin kinase 2
    • spinocerebellar ataxia 11
  • transglutaminase 6
    • transglutaminase 3-like
    • transglutaminase Y
  • tyrosyl-DNA phosphodiesterase 1
  • very low density lipoprotein receptor
  • vesicle associated membrane protein 1
    • synaptobrevin 1
    • vesicle-associated membrane protein 1 (synaptobrevin 1)
  • WD repeat domain 81
  • wolframin ER transmembrane glycoprotein
    • wfs1 gene
    • Wolfram syndrome 1 (wolframin)
    • wolframin
  • zinc finger protein 592
    • spinocerebellar ataxia, autosomal recessive 5

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