Testing Criteria

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Testing criteria Disorders Genes Date
NBAS Related Disorder
  • Infantile Liver Failure Syndrome 2
    • .
  • Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
    • .
  • neuroblastoma amplified sequence
    • .
2017
Nephrotic Syndromes including Focal Segmental Glomerulosis 16 Gene Panel
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Alstrom Syndrome
    • Alss
  • Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 2
  • Autosomal Recessive Steroid-Resistant Nephrotic Syndrome
  • Coenzyme Q10 Deficiency, Primary, 1
    • Coenzyme Q Deficiency 1
    • CoQ Deficiency 1
    • CoQ10 Deficiency, Primary, 1
    • Ubiquinone Deficiency 1
  • Coenzyme Q10 Deficiency, Primary, 5
  • Coenzyme Q10 Deficiency, Primary, 6
  • Coenzyme Q10 Deficiency, Primary, 8
  • Complement Factor H Deficiency
  • Congenital Disorder Of Glycosylation, Type Ia
    • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly
    • Jaeken Syndrome
    • Phosphomannomutase 2 Deficiency
  • Congenital Disorder of Glycosylation, Type Ik
    • 0
  • Corticosterone Methyloxidase Type I Deficiency
    • 18-@hydroxylase Deficiency
    • Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase
    • Aldosterone Deficiency I
    • Cmo I Deficiency
    • Hyperreninemic Hypoaldosteronism, Familial, 1
    • Steroid 18-@hydroxylase Deficiency
  • Corticosterone Methyloxidase Type II Deficiency
    • 18-@oxidase Deficiency
    • Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase
    • Aldosterone Deficiency II
    • Cmo II Deficiency
    • Steroid 18-Oxidase Deficiency
  • Dent Disease 2
  • Denys-Drash Syndrome
    • Drash Syndrome
    • Nephropathy, Wilms Tumor, And Genital Anomalies
    • Wilms Tumor And Pseudo- Or True Hermaphroditism
  • Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
  • Epstein Syndrome
    • Macrothrombocytopenia, Nephritis, And Deafness
  • Familial Mediterranean Fever, Autosomal Dominant
    • Fmf, Autosomal Dominant
  • Fechtner Syndrome
    • Alport Syndrome With Macrothrombocytopenia
    • Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
  • Focal Segmental Glomerulosclerosis 1
    • Glomerulosclerosis, Focal Segmental, 1
  • Focal Segmental Glomerulosclerosis 2
    • Glomerulosclerosis, Focal Segmental, 2
  • Focal Segmental Glomerulosclerosis 3, Susceptibility To
    • Glomerulosclerosis, Focal Segmental, 3, Susceptibility To
  • Focal Segmental Glomerulosclerosis 4, Susceptibility To
    • End-Stage Renal Disease, Nondiabetic, Susceptibility To, Included
  • Focal Segmental Glomerulosclerosis 5
    • Glomerulosclerosis, Focal Segmental, 5
  • Focal Segmental Glomerulosclerosis 6
    • Glomerulosclerosis, Focal Segmental, 6
  • Focal Segmental Glomerulosclerosis 7
    • Glomerulosclerosis, Focal Segmental, 7
  • Focal Segmental Glomerulosclerosis 8;
  • Focal Segmental Glomerulosclerosis 9
    • Glomerulosclerosis, Focal Segmental, 9
  • Frasier Syndrome
  • Galloway-Mowat Syndrome 1
    • Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities
    • Galloway Syndrome
    • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome
    • Nephrosis-Microcephaly Syndrome
    • Nephrosis-Neuronal Dysmigration Syndrome
    • Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly; SCAR5, Formerly
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
    • Ahus, Susceptibility To, 1
  • Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
  • Lowe Oculocerebrorenal Syndrome
    • Lowe Syndrome
    • OCRL1
    • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase, Deficiency Of
  • Mandibuloacral Dysplasia With Type B Lipodystrophy
    • Lipodystrophy, Type B, Associated With Mandibuloacral Dysplasia
  • Medullary Cystic Kidney Disease 1
  • Megaloblastic Anemia 1
  • Nail-Patella Syndrome
    • Fong Disease
    • Nps1
    • Onychoosteodysplasia
    • Turner-Kieser Syndrome
  • Nephronophthisis 12
  • Nephronophthisis 16
  • Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
  • Nephrotic Syndrome 15
  • Nephrotic Syndrome 16
  • Nephrotic Syndrome, Type 1
    • Finnish Congenital Nephrosis
    • Nephrotic Syndrome, Congenital
  • Nephrotic Syndrome, Type 11
  • Nephrotic Syndrome, Type 12
  • Nephrotic Syndrome, Type 13
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • Nephrotic Syndrome, Type 3
    • Nephrotic Syndrome, Early-Onset, Type 3
  • Nephrotic Syndrome, Type 4
  • Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
  • Nephrotic Syndrome, Type 6
  • Nephrotic Syndrome, Type 7
  • Nephrotic Syndrome, Type 8
  • Nephrotic Syndrome, Type 9
  • Papillorenal Syndrome
    • Cakut With Or Without Ocular Abnormalities
    • Coloboma Of Optic Nerve With Renal Disease
    • Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
    • Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
    • Optic Nerve Coloboma With Renal Disease
    • Renal-Coloboma Syndrome
    • Renal-Coloboma Syndrome With Macular Abnormalities
  • Pierson Syndrome
  • Schimke Immunoosseous Dysplasia
    • Immunoosseous Dysplasia, Schimke Type
  • Senior-Loken Syndrome 4
  • Ventriculomegaly With Cystic Kidney Disease;
  • Wilms Tumor 1
    • Nephroblastoma
  • actinin, alpha 4
    • actinin-4
    • focal segmental glomerulosclerosis 1
  • ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
    • ALG1, YEAST, HOMOLOG OF; ALG1
    • HMT-1, HMAT1
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
  • anillin actin binding protein
    • "anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"
  • ankyrin repeat and sterile alpha motif domain containing 6
  • apolipoprotein L1
    • apolipoprotein L, 1
    • apolipoprotein L-I
  • CD151 molecule (Raph blood group)
    • PETA-3
    • RAPH
    • SFA-1
    • TSPAN24
  • CD2-associated protein
    • CAS ligand with multiple SH3 domains
  • coenzyme Q2, polyprenyltransferase
    • coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
    • parahydroxybenzoate-polyprenyltransferase, mitochondrial
  • coenzyme Q6, monooxygenase
    • coenzyme Q10 monooxygenase 6
    • coenzyme Q6 homolog (yeast)
    • coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
    • coenzyme Q6 homolog, monooxygenase (yeast)
  • coenzyme Q7, hydroxylase
    • "coenzyme Q, 7 (rat, yeast) homolog", "coenzyme Q7 homolog, ubiquinone (yeast)"
  • coenzyme Q8B
    • aarF domain containing kinase 4"
  • coenzyme Q9
    • DKFZP434K046
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
  • complement factor H
    • age-related maculopathy susceptibility 1
    • beta-1H
    • complement factor H
    • factor H
    • factor H and factor H-like 1, combined deficiency of, included
    • factor H-like 1, included
    • H factor 1
    • H factor 2 (complement)
  • crumbs 2, cell polarity complex component
    • "crumbs family member 2", "crumbs homolog 2 (Drosophila)"
  • cubilin
  • cytochrome P450, family 11, subfamily B, member 2
    • aldosterone deficiency due to deficiency of 18-hydroxysteroid dehydrogenase, included
    • aldosterone deficiency II, included
    • aldosterone synthase
    • CMO II deficiency, included
    • corticosterone methyl oxidase type II deficiency, included
    • cytochrome P450, family 11, subfamily B, polypeptide 2
    • cytochrome p450, subfamily XIB, polypeptide 2
    • hyperreninemic hypoaldosteronism, familial, 1, included
    • steroid 11-beta-hydroxylase
  • decaprenyl diphosphate synthase subunit 2
    • prenyl (decaprenyl) diphosphate synthase, subunit 2
  • diacylglycerol kinase epsilon
  • E2F transcription factor 3
  • epithelial membrane protein 2
  • exportin 5
  • FAT atypical cadherin 1
    • FAT, "FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • integrin subunit alpha 3
  • integrin subunit beta 4
    • integrin, beta 4
  • inverted formin, FH2 and WH2 domain containing
    • chromosome 14 open reading frame 151
    • chromosome 14 open reading frame 173
    • formin, inverted, 2
    • inverted formin 2
  • KN motif and ankyrin repeat domains 1
    • KANK
    • KIAA0172
  • KN motif and ankyrin repeat domains 2
    • KIAA1518
  • KN motif and ankyrin repeat domains 4
    • ANKRD38, "ankyrin repeat domain 38"
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • laminin subunit beta 2
    • laminin s
    • laminin, beta 2 (laminin S)
    • laminin, beta-2
  • LIM homeobox transcription factor 1, beta
  • mediator complex subunit 28
    • "mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"
  • MEFV, pyrin innate immunity regulator
    • familial mediterranean fever gene
    • marenostrin
    • Mediterranean fever
    • pyrin
  • membrane associated guanylate kinase, WW and PDZ domain containing 2
    • atrophin 1-interacting protein 1
  • mucin 1, cell surface associated
  • myosin heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • myosin IE
    • myosin IC
  • nei like DNA glycosylase 1
  • nephrocystin 4
    • nephronophthisis 4
  • NPHS1, nephrin
    • nephrosis 1, congenital, Finnish type (nephrin)
    • renal glomerulus-specific cell adhesion receptor
  • NPHS2, podocin
    • nephrosis 2, idiopathic, steroid-resistant (podocin)
    • nephrosis 2, idiopathic, steroid-resistant podocin
  • nuclear RNA export factor 5
  • nucleoporin 107
    • nucleoporin 107kDa"
  • nucleoporin 205
    • C7orf14, "chromosome 7 open reading frame 14", "nucleoporin 205kDa"
  • nucleoporin 93
    • "nucleoporin 93kDa"
  • OCRL, inositol polyphosphate-5-phosphatase
    • Lowe oculocerebrorenal syndrome
    • Lowe syndrome
    • ocrl gene
    • oculocerebrorenal syndrome of Lowe
    • phosphatidylinositol 4,5-bisphosphate 5-phosphatase, deficiency of
  • paired box 2
  • phospholipase C, epsilon 1
  • phosphomannomutase 2
  • podocalyxin like
    • "podocalyxin-like"
  • protein tyrosine phosphatase, receptor type O
    • glomerular epithelial protein 1
    • protein tyrosine phosphatase PTP-U2
  • Rho GDP dissociation inhibitor alpha
    • GDIA1, "Rho GDP dissociation inhibitor (GDI) alpha"
  • Rho GTPase activating protein 24
    • filamin A-associated RHOGAP
    • RAC1- and CDC42-specific GTPase-activating protein, 72-kD
  • scavenger receptor class B member 2
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like 1
  • synaptopodin
  • tetratricopeptide repeat domain 21B
    • tetratricopeptide repeat domain-containing protein 21B
    • tetratricopeptide repeat-containing hedgehog modulator 1
  • transient receptor potential cation channel, subfamily C, member 6
    • transient receptor potential, drosophila, homolog of, 6
  • VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
    • hSPE-39
    • SPE-39
    • SPE39
    • VIPAR
    • VPS16B
  • VPS33B, late endosome and lysosome associated
    • vacuolar protein sorting 33 homolog B (yeast)
  • WD repeat domain 73
  • Wilms tumor 1
    • wilms tumor 1 gene
  • zinc metallopeptidase STE24
2013
Netherton Syndrome
  • Netherton Syndrome
    • ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE|NS|NETHERTON DISEASE|COMEL-NETHERTON SYNDROME
  • serine peptidase inhibitor, Kazal type 5
    • serine protease inhibitor, Kazal type 5
2012
Neuraminidase Deficiency
  • Neuraminidase Deficiency
    • Glycoprotein Neuraminidase Deficiency
    • Lipomucopolysaccharidosis
    • ML I
    • Mucolipidosis I
    • NEU Deficiency
    • NEU1 Deficiency
    • NEUG Deficiency
    • Neuraminidase 1 Deficiency
    • Sialidase Deficiency
    • Sialidosis, Type II
  • sialidase 1 (lysosomal sialidase)
    • sialidase 1
    • sialidase, lysosomal
2014
Neurodegeneration With Brain Iron Accumulation 1
  • Neurodegeneration With Brain Iron Accumulation 1
    • Hallervorden-Spatz Disease
    • Pantothenate Kinase-Associated Neurodegeneration
    • Pkan Neuroaxonal Dystrophy, Juvenile-Onset
  • pantothenate kinase 2
    • neurodegeneration with brain iron accumulation 1 (hallervorden-spatz syndrome)
    • pantothenate kinase 2
2008
Neurodegeneration With Brain Iron Accumulation 2A
  • Neurodegeneration With Brain Iron Accumulation 2A
    • Neuroaxonal Dystrophy, Infantile
    • Neurodegeneration, PLA2G6-Associated
    • Seitelberger Disease
  • phospholipase A2, group VI
    • phospholipase A2, group VI (cytosolic, calcium-independent)
2012
Neurofibromatosis type I and Legius Syndrome 2 Gene Panel
  • Legius Syndrome
    • Neurofibromatosis, Type 1-Like Syndrome
  • Neurofibromatosis, Type I
    • Neurofibromatosis
    • Neurofibromatosis, Type I, With Glioma, Included
    • Neurofibromatosis, Type I, With Leukemia, Included
    • Neurofibromin, Included
    • Von Recklinghausen Disease
  • neurofibromin 1
    • neurofibromatosis
    • neurofibromatosis, type i
    • neurofibromatosis, type i, with glioma, included
    • neurofibromatosis, type i, with leukemia, included
    • neurofibromin, included
    • von recklinghausen disease
  • sprouty-related, EVH1 domain containing 1
2015
Neurofibromatosis, Type I
  • Neurofibromatosis, Type I
    • Neurofibromatosis
    • Neurofibromatosis, Type I, With Glioma, Included
    • Neurofibromatosis, Type I, With Leukemia, Included
    • Neurofibromin, Included
    • Von Recklinghausen Disease
  • neurofibromin 1
    • neurofibromatosis
    • neurofibromatosis, type i
    • neurofibromatosis, type i, with glioma, included
    • neurofibromatosis, type i, with leukemia, included
    • neurofibromin, included
    • von recklinghausen disease
2011
Neuronopathies, Distal Hereditary Motor 15 Gene Panel
  • Amyotrophic Lateral Sclerosis 4, Juvenile
    • Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
  • Brown-Vialetto-Van Laere Syndrome 1
    • Bulbar Palsy, Progressive, With Sensorineural Deafness
    • Pontobulbar Palsy With Deafness
  • Brown-Vialetto-Van Laere Syndrome 2
  • Charcot-Marie-Tooth Disease, Axonal, Type 2F
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2F
    • Charcot-Marie-Tooth Neuropathy, Type 2F
  • Charcot-Marie-Tooth Disease, Axonal, Type 2L
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2L
    • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2L
  • Charcot-Marie-Tooth Disease, Axonal, Type 2O
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2O
    • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2O
  • Hereditary Motor and Sensory Neuropathy, Type IIC
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C
    • Charcot-Marie-Tooth Neuropathy, Type 2C
  • Neuronopathy, Distal Hereditary Motor, Type IIA
    • Charcot-Marie-Tooth Disease, Spinal, IIA
    • Neuropathy, Distal Hereditary Motor, Type IIA
    • Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, IIA
  • Neuronopathy, Distal Hereditary Motor, Type IIB
    • Neuropathy, Distal Hereditary Motor, Type IIB
  • Neuronopathy, Distal Hereditary Motor, Type IIC
    • Neuropathy, Distal Hereditary Motor, Type IIC
  • Neuronopathy, Distal Hereditary Motor, Type VA
    • Neuronopathy, Distal Hereditary Motor, Type V
    • Neuropathy, Distal Hereditary Motor, Type V
    • Spinal Muscular Atrophy, Distal, Type V
    • Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
  • Neuronopathy, Distal Hereditary Motor, Type VIIB
    • Lower Motor Neuron Disease, Dynactin Type
    • Neuropathy, Distal Hereditary Motor, Type VIIB
    • Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type VIIB
  • Neuronopathy, Distal Hereditary Motor, Type VIII
    • Spinal Muscular Atrophy, Congenital Benign, With Contractures
    • Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
  • Riboflavin Deficiency
  • Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
    • I
    • Neuronopathy, Distal Hereditary Motor, Type VI
    • Neuropathy, Severe Infantile Axonal, With Respiratory Failure
    • Severe Infantile Axonal Neuropathy With Respiratory Failure
    • Spinal Muscular Atrophy With Respiratory Distress 1
    • Spinal Muscular Atrophy, Diaphragmatic
  • Spinal Muscular Atrophy, Distal, X-Linked 3
    • Spinal Muscular Atrophy, Distal, X-Linked Recessive
  • Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
    • Kugelberg-Welander Syndrome, Autosomal Dominant
    • Sma-Led
    • Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
    • Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
  • Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant
    • 0
  • ATPase copper transporting alpha
    • ATPase, Cu++ transporting, alpha polypeptide
  • BICD cargo adaptor 2
    • bicaudal D homolog 2 (Drosophila)
    • KIAA0699
  • BSCL2, seipin lipid droplet biogenesis associated
    • berardinelli-seip congenital lipodystrophy 2 (seipin)
    • gng3lg, mouse, homolog of
  • dynactin subunit 1
    • dynactin 1
    • dynactin 1 (p150, Glued (Drosophila) homolog)
    • p150(glued), drosophila, homolog of
  • dynein, cytoplasmic 1, heavy chain 1
    • CMT2O
    • DHC1
    • Dnchc1
    • dynein, cytoplasmic, heavy polypeptide 1
    • HL-3
    • p22
  • glycyl-tRNA synthetase
    • Charcot-Marie-Tooth neuropathy 2D
  • heat shock protein family B (small) member 1
    • heat shock 27kDa protein 1
  • heat shock protein family B (small) member 3
    • heat shock 27kD protein 3
    • heat shock 27kDa protein 3
  • heat shock protein family B (small) member 8
    • heat shock 22kDa protein 8
  • immunoglobulin mu binding protein 2
    • cardiac transcription factor 1
  • senataxin
    • amyotrophic lateral sclerosis 4
    • spinocerebellar ataxia, recessive, non-Friedreich type 1
  • solute carrier family 52 member 1
    • G protein-coupled receptor 172B
    • G protein-coupled receptor 42
    • PERV-A receptor 2
    • porcine endogenous retrovirus, subgroup A, receptor 2
    • riboflavin transporter 1
    • solute carrier family 52 (riboflavin transporter), member 1
    • solute carrier family 52, riboflavin transporter, member 1
  • solute carrier family 52 member 2
    • G protein-coupled receptor 172A
    • PERV-A receptor 1
    • porcine endogenous retrovirus, subgroup A, receptor 1
    • riboflavin transporter 3
    • solute carrier family 52 (riboflavin transporter), member 2
    • solute carrier family 52, riboflavin transporter, member 2
  • solute carrier family 52 member 3
    • chromosome 20 open reading frame 54
    • riboflavin transporter 2
    • solute carrier family 52 (riboflavin transporter), member 3
    • solute carrier family 52, riboflavin transporter, member 3
  • transient receptor potential cation channel, subfamily V, member 4
2017
Neuropathies, Hereditary, Motor/Sensory, 49 Gene Panel
  • 46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
  • 46,XY Sex Reversal 7
    • 46,XY Gonadal Dysgenesis, Complete Or Partial, DHH-Related
    • 46,XY Sex Reversal, Partial Or Complete, DHH-Related
    • Gonadal Dysgenesis, XY, Male-Limited
  • Amyloidosis, Hereditary, Transthyretin-Related
    • Amyloid Polyneuropathy, Multiple Forms, Included
    • Amyloidosis I, Included
    • Dysprealbuminemic Euthyroidal Hyperthyroxinemia, Included
    • Familial Amyloid Polyneuropathy
    • Hereditary Amyloidosis, Transthyretin-Related
    • Hyperthyroxinemia, Dysprealbuminemic, Included
    • Hyperthyroxinemia, Dystransthyretinemic, Included
    • Senile Systemic Amyloidosis, Included
    • Transthyretin Amyloidosis
  • Amyotrophic Lateral Sclerosis 1
    • Amyotrophic Lateral Sclerosis
  • Amyotrophic Lateral Sclerosis 11
  • Amyotrophy, Hereditary Neuralgic
    • Amyotrophy, Hereditary Neuralgic, With Predilection For Brachial Plexus
    • Brachial Plexus Neuropathy, Hereditary
    • Neuritis With Brachial Predilection
  • ARTS Syndrome
    • Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision
    • Mental Retardation, X-Linked, Syndromic 18
    • Mental Retardation, X-Linked, Syndromic, ARTS Type
  • Brachyolmia Type 3
    • Brachyolmia, Autosomal Dominant
    • Brachyrachia
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
    • Cardiogenital Syndrome
    • Cardiomyopathy With Primary Testicular Failure
    • Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
    • Cardiomyopathy, Dilated, With Premature Ovarian Failure
    • Genital Anomaly With Cardiomyopathy
    • Malouf Syndrome
    • Najjar Syndrome
  • Carpal Tunnel Syndrome
    • Amyotrophy, Thenar, Of Carpal Origin
  • Charcot-Marie-Tooth Disease And Deafness
    • Charcot-Marie-Tooth Disease, Demyelinating, Type 1E
    • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
  • Charcot-Marie-Tooth Disease, Axonal, Type 2A1
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A1
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2A1
    • Charcot-Marie-Tooth Neuropathy, Type 2A1
    • Hereditary Motor And Sensory Neuropathy IIA1
  • Charcot-Marie-Tooth Disease, Axonal, Type 2A2
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2a2
    • Charcot-Marie-Tooth Neuropathy, Type 2a2
    • Hereditary Motor And Sensory Neuropathy IIa2
  • Charcot-Marie-Tooth Disease, Axonal, Type 2B
    • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B
    • Charcot-Marie-Tooth Neuropathy, Type 2B
    • Hereditary Motor And Sensory Neuropathy IIB
  • Charcot-Marie-Tooth Disease, Axonal, Type 2B1
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2B1
    • Charcot-Marie-Tooth Neuropathy, Type 2B1
  • Charcot-Marie-Tooth Disease, Axonal, Type 2B2
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2B2
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2B2
    • Charcot-Marie-Tooth Neuropathy, Type 2B2
  • Charcot-Marie-Tooth Disease, Axonal, Type 2D
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2D
    • Charcot-Marie-Tooth Neuropathy, Type 2D
  • Charcot-Marie-Tooth Disease, Axonal, Type 2E
    • Charcot-Marie-Tooth Neuropathy, Type 2E
    • HMSN IA
  • Charcot-Marie-Tooth Disease, Axonal, Type 2F
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2F
    • Charcot-Marie-Tooth Neuropathy, Type 2F
  • Charcot-Marie-Tooth Disease, Axonal, Type 2I
    • Charcot-Marie-Tooth Neuropathy, Type 2I
  • Charcot-Marie-Tooth Disease, Axonal, Type 2J
    • Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities
    • Charcot-Marie-Tooth Neuropathy, Type 2J
  • Charcot-Marie-Tooth Disease, Axonal, Type 2K
    • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K, Included
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2K
    • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2K
  • Charcot-Marie-Tooth Disease, Axonal, Type 2L
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2L
    • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2L
  • Charcot-Marie-Tooth Disease, Axonal, Type 2N
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2N
    • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2N
  • Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive
    • Charcot-Marie-Tooth Disease, Type 4A, Axonal Form
    • Charcot-Marie-Tooth Neuropathy, Axonal, With Vocal Cord Paresis, Autosomal Recessive
    • CMT2 With Vocal Cord Paresis, Autosomal Recessive
  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
    • Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Unlinked
    • Charcot-Marie-Tooth Disease, Type 1A, With Focally Folded Myelin Sheaths
    • Charcot-Marie-Tooth Neuropathy, Type 1A
    • Cmt 1A, Unlinked To Duffy
    • Hereditary Motor And Sensory Neuropathy IA
    • To Duffy
  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
    • Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
    • Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To
    • Charcot-Marie-Tooth Disease, Type 1B, With Focally Folded Myelin Sheaths
    • Charcot-Marie-Tooth Neuropathy, Type 1B
    • Duffy
    • Hereditary Motor And Sensory Neuropathy I
    • Hereditary Motor And Sensory Neuropathy IB
    • Peroneal Muscular Atrophy
  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
    • Charcot-Marie-Tooth Neuropathy, Type 1C Neuropathy, Hereditary Motor And Sensory, Type IC
    • CMT, Slow Nerve Conduction Type C
  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
    • Charcot Marie Tooth Type 1D
    • Charcot-Marie-Tooth Neuropathy, Type 1D
    • Hereditary Motor And Sensory Neuropathy 1D
  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
    • Charcot-Marie-Tooth Neuropathy, Type 1F
  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
  • Charcot-Marie-Tooth Disease, Dominant Intermediate B
    • Charcot-Marie-Tooth Disease, Axonal, Type 2M, Included
    • Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
  • Charcot-Marie-Tooth Disease, Dominant Intermediate C
    • Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C
  • Charcot-Marie-Tooth Disease, Dominant Intermediate D
    • Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D
  • Charcot-Marie-Tooth Disease, Recessive Intermediate A
    • Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A
  • Charcot-Marie-Tooth Disease, Recessive Intermediate B
    • Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
  • Charcot-Marie-Tooth Disease, Type 4A
    • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
    • Charcot-Marie-Tooth Neuropathy, Type 4A
  • Charcot-Marie-Tooth Disease, Type 4B1
    • Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B1
    • Charcot-Marie-Tooth Disease, Type 4B
    • Charcot-Marie-Tooth Neuropathy, Type 4B1
  • Charcot-Marie-Tooth Disease, Type 4B2
    • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2
    • Charcot-Marie-Tooth Neuropathy, Type 4B2
  • Charcot-Marie-Tooth Disease, Type 4C
    • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4C
    • Charcot-Marie-Tooth Neuropathy, Type 4C
  • Charcot-Marie-Tooth Disease, Type 4D
    • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4D
    • Charcot-Marie-Tooth Neuropathy, Type 4D
    • Neuropathy, Hereditary Motor And Sensory, Lom Type
  • Charcot-Marie-Tooth Disease, Type 4H
    • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H
    • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H
    • Charcot-Marie-Tooth Neuropathy, Type 4H
  • Charcot-Marie-Tooth Disease, Type 4J
    • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4J
  • Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
    • Charcot-Marie-Tooth Neuropathy, X-Linked, 1
    • Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
    • CMT2, Formerly
    • Hereditary Motor And Sensory Neuropathy, X-Linked
    • HMSN, X-Linked
  • Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
    • Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
    • Optic Atrophy, Polyneuropathy, And Deafness
    • Rosenberg-Chutorian Syndrome
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy
    • Cataract, Congenital, With Facial Dysmorphism And Neuropathy
  • Deafness, X-Linked 1
    • Deafness, X-Linked 2, Sensorineural Congenital
  • Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
    • Emery-Dreifuss Muscular Dystrophy 2
    • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
    • Hauptmann-Thannhauser Muscular Dystrophy
    • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
    • Scapuloilioperoneal Atrophy With Cardiopathy
  • Giant Axonal Neuropathy 1, Autosomal Recessive
  • Guillain-Barre Syndrome, Familial
    • Polyneuropathy, Inflammatory Demyelinating, Acute
  • Heart-Hand Syndrome, Slovenian Type
  • Hereditary Motor and Sensory Neuropathy, Type IIC
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C
    • Charcot-Marie-Tooth Neuropathy, Type 2C
  • Hereditary Motor and Sensory Neuropathy, Type VIA
    • Charcot-Marie-Tooth Disease, Type 6
    • Peripheral Neuropathy And Optic Atrophy
  • Hutchinson-Gilford Progeria Syndrome
    • Myopathy, Early-Onset, With Progeroid Features, Included
    • Progeria
  • Hyperthyroxinemia, Dystransthyretinemic
    • Dystransthyretinemic Euthyroidal Hyperthyroxinemia
    • Euthryroidal Hyperthyroxinemia 2
    • Hyperthyroxinemia, Dysprealbuminemic
  • Hypertrophic Neuropathy of Dejerine-Sottas
    • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
    • Charcot-Marie-Tooth Disease, Type 3
    • Dejerine-Sottas Neuropathy
    • Dejerine-Sottas Syndrome
    • Hereditary Motor And Sensory Neuropathy Type III
  • Lipodystrophy, Familial Partial, Type 2
    • Fpl2
    • Lipoatrophic Diabetes
    • Lipodystrophy, Familial Partial, Dunnigan Type
    • Lipodystrophy, Familial, Of Limbs And Lower Trunk
    • Lipodystrophy, Reverse Partial
  • Mandibuloacral Dysplasia With Type A Lipodystrophy
    • Craniomandibular Dermatodysostosis
    • Lipodystrophy, Type A, Associated With Mandibuloacral Dysplasia
  • Metatropic Dysplasia
    • Metatropic Dwarfism
  • Mononeuropathy Of The Median Nerve, Mild
    • Carpal Tunnel Syndrome, Susceptibility To
  • Muscular Dystrophy, Congenital, LMNA-Related
  • Muscular Dystrophy, Limb-Girdle, Type 1B
    • Limb Girdle Muscular Dystrophy
  • Myopathy, Centronuclear, 1
    • Myopathy, Centronuclear, Autosomal Dominant
    • Myotubular Myopathy, Autosomal Dominant
  • Neuroblastoma, Susceptibility To
  • Neuronopathy, Distal Hereditary Motor, Type IIA
    • Charcot-Marie-Tooth Disease, Spinal, IIA
    • Neuropathy, Distal Hereditary Motor, Type IIA
    • Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, IIA
  • Neuronopathy, Distal Hereditary Motor, Type IIB
    • Neuropathy, Distal Hereditary Motor, Type IIB
  • Neuronopathy, Distal Hereditary Motor, Type VA
    • Neuronopathy, Distal Hereditary Motor, Type V
    • Neuropathy, Distal Hereditary Motor, Type V
    • Spinal Muscular Atrophy, Distal, Type V
    • Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
  • Neuronopathy, Distal Hereditary Motor, Type VB
    • Neuropathy, Distal Hereditary Motor, Type VB
    • Spinal Muscular Atrophy, Distal, Type VB
  • Neuronopathy, Distal Hereditary Motor, Type VIIB
    • Lower Motor Neuron Disease, Dynactin Type
    • Neuropathy, Distal Hereditary Motor, Type VIIB
    • Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type VIIB
  • Neuronopathy, Distal Hereditary Motor, Type VIII
    • Spinal Muscular Atrophy, Congenital Benign, With Contractures
    • Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
  • Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive
    • Charcot-Marie-Tooth Disease, Type 4e
    • Charcot-Marie-Tooth Neuropathy, Type 4e
    • Congenital Hypomyelinating Neuropathy
    • Hypomyelination, Severe Congenital
    • Neuropathy, Congenital Hypomyelinating, Autosomal Dominant, included
  • Neuropathy, Hereditary Sensory and Autonomic, Type IA
    • Neuropathy, Hereditary Sensory And Autonomic, Type I
    • Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1A
    • Neuropathy, Hereditary Sensory, Type IA
  • Neuropathy, Hereditary Sensory and Autonomic, Type IIA
    • Acroosteolysis, Giaccai Type
    • Acroosteolysis, Neurogenic
    • Morvan Disease
    • Neuropathy, Congenital Sensory
    • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
    • Neuropathy, Hereditary Sensory, Type Iia
    • Neuropathy, Progressive Sensory, Of Children
  • Neuropathy, Hereditary Sensory and Autonomic, Type III
    • Dysautonomia, Familial
    • Hsan III
    • Riley-Day Syndrome
  • Neuropathy, Hereditary Sensory and Autonomic, Type V
    • Insensitivity To Pain, Congenital
  • Neuropathy, Hereditary Sensory, Type ID
  • Neuropathy, Hereditary, with Liability to Pressure Palsies
    • Polyneuropathy, Familial Recurrent
    • Tomaculous Neuropathy
  • Occipital Horn Syndrome
    • Cutis Laxa, X-Linked
    • Ehlers-Danlos Syndrome, Occipital Horn Type
  • Parastremmatic Dwarfism
  • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Waardenburg-Shah Syndrome, Neurologic Variant
  • Peroxisome Biogenesis Disorder 9b
    • Peroxisome Biogenesis Disorder, PEX7-Related, Atypical
    • Refsum Disease, Adult, 2
  • Perry Syndrome
    • Parkinsonism With Alveolar Hypoventilation And Mental Depression
  • Phaeochromocytoma
    • pheochromocytoma
  • Phosphoribosylpyrophosphate Synthetase Superactivity
    • PRPS1 Superactivity
  • Pseudohypoaldosteronism, Type IIC
  • Refsum Disease, Classic
    • Hereditary Motor And Sensory Neuropathy IV
    • Heredopathia Atactica Polyneuritiformis
    • Phytanic Acid Oxidase Deficiency
    • Refsum Disease, Adult, 1
  • Restrictive Dermopathy, Lethal
    • Fetal Hypokinesia Sequence Due To Restrictive Dermopathy
    • Hyperkeratosis-Contracture Syndrome
    • Tight Skin Contracture Syndrome, Lethal
  • Rhizomelic Chondrodysplasia Punctata, Type 1
    • Chondrodysplasia Punctata, Rhizomelic Form
    • Chondrodystrophia Calcificans Punctata
  • Roussy-Levy Hereditary Areflexic Dystasia
    • Roussy-Levy Syndrome
  • Scapuloperoneal Spinal Muscular Atrophy
    • Amyotrophy, Neurogenic Scapuloperoneal, New England Type
  • Slowed Nerve Conduction Velocity, Autosomal Dominant
  • Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
    • I
    • Neuronopathy, Distal Hereditary Motor, Type VI
    • Neuropathy, Severe Infantile Axonal, With Respiratory Failure
    • Severe Infantile Axonal Neuropathy With Respiratory Failure
    • Spinal Muscular Atrophy With Respiratory Distress 1
    • Spinal Muscular Atrophy, Diaphragmatic
  • Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
  • Spinal Muscular Atrophy, Distal, X-Linked 3
    • Spinal Muscular Atrophy, Distal, X-Linked Recessive
  • Thyroid Carcinoma, Familial Medullary
    • Mtc1
    • Mtcf
  • Vertical Talus, Congenital
    • Pes Valgus, Congenital Convex
    • Rocker-Bottom Foot
  • alanyl-tRNA synthetase
  • ATPase copper transporting alpha
    • ATPase, Cu++ transporting, alpha polypeptide
  • CTD phosphatase subunit 1
    • CTD (carboxy-terminal domain, RNA polymerase II, polypep tide A) phosphatase, subunit 1
    • CTD phosphatase subunit 1
  • desert hedgehog
    • desert hedgehog (Drosophila) homolog
  • dynactin subunit 1
    • dynactin 1
    • dynactin 1 (p150, Glued (Drosophila) homolog)
    • p150(glued), drosophila, homolog of
  • dynamin 2
  • early growth response 2
  • elongator complex protein 1
    • IKK complex-associated protein
    • inhibitor of kappa light polypeptide gene enhancer in b cells, kinase complex-associated protein
    • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • FIG4 phosphoinositide 5-phosphatase
    • FIG4 homolog (S. cerevisiae)
    • FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
    • KIAA0274
  • FYVE, RhoGEF and PH domain containing 4
    • FGD1 family, member 4
  • ganglioside-induced differentiation-associated protein 1
  • gap junction protein, beta 1
    • connexin 32
    • gap junction protein, 32-kd
    • gap junction protein, beta 1, 32kDa
    • gap junction protein, beta 1, 32kda (connexin 32, charcot-marie-tooth neuropathy, x-linked)
    • gap junction protein, beta-1
    • liver connexin
  • gigaxonin
    • giant axonal neuropathy (gigaxonin)
  • glycyl-tRNA synthetase
    • Charcot-Marie-Tooth neuropathy 2D
  • heat shock protein family B (small) member 1
    • heat shock 27kDa protein 1
  • heat shock protein family B (small) member 8
    • heat shock 22kDa protein 8
  • homeobox D10
    • homeo box D10
  • immunoglobulin mu binding protein 2
    • cardiac transcription factor 1
  • kinesin family member 1B
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • lipopolysaccharide-induced TNF factor
    • lps-induced tnf-alpha factor
    • small integral membrane protein of lysosome/late endosome
  • lysyl-tRNA synthetase
    • deafness, autosomal recessive 89
  • mediator complex subunit 25
    • mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)
  • mitofusin 2
  • myelin protein zero
    • charcot-marie-tooth neuropathy 1b
    • myelin glycoprotein p-zero
    • myelin protein zero
    • myelin protein, peripheral
  • myotubularin related protein 2
  • N-myc downstream regulated 1
  • nerve growth factor
    • nerve growth factor (beta polypeptide)
  • neurofilament light
    • neurofilament light chain
    • neurofilament protein, light chain
    • neurofilament, light polypeptide
    • neurofilament, light polypeptide 68kda
  • neurotrophic receptor, tyrosine kinase 1
    • high affinity nerve growth factor receptor
    • neurotrophic tyrosine kinase, receptor, type 1
  • periaxin
  • peripheral myelin protein 22
    • growth arrest-specific 3
  • peroxisomal biogenesis factor 7
    • peroxin 7
    • peroxisomal pts2 receptor
    • peroxisome biogenesis factor 7
  • phosphoribosyl pyrophosphate synthetase 1
    • deafness, X-linked 2, perceptive, congenital
  • phytanoyl-CoA 2-hydroxylase
    • phytanoyl-CoA hydroxylase
    • phytanoyl-CoA hydroxylase (Refsum disease)
  • pleckstrin homology and RhoGEF domain containing G5
    • pleckstrin homology domain containing, family G (with RhoGEF domain) member 5
  • RAB7A, member RAS oncogene family
    • rab7, member RAS oncogene family
  • Rho guanine nucleotide exchange factor 10
    • Rho guanine nucleotide exchange factor (GEF) 10
  • septin 9
    • MLL septin-like fusion
  • serine palmitoyltransferase, long chain base subunit 1
    • serine palmitoyltransferase, long-chain base subunit 1
  • SET binding factor 2
    • Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)
    • DENN/MADD domain containing 7B
  • SH3 domain and tetratricopeptide repeats 2
  • spastin
    • chromosome 1 open reading frame 2
    • spastic paraplegia 4 (autosomal dominant; spastin)
    • spastin
    • spg4 gene
  • SRY-box 10
    • SRY (sex determining region Y)-box 10
  • transient receptor potential cation channel, subfamily V, member 4
  • twinkle mtDNA helicase
    • chromosome 10 open reading frame 2
    • infantile onset spinocerebellar ataxia (autosomal recessive)
    • progressive external ophthalmoplegia 1
    • t7 gene 4-like protein with intramitochondrial nucleoid localization
    • twinkle
  • tyrosyl-DNA phosphodiesterase 1
  • tyrosyl-tRNA synthetase
  • WNK lysine deficient protein kinase 1
    • hereditary sensory neuropathy, type II
    • protein kinase, lysine deficient 1
2013

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