CentoScreen List of Genes

AAAS, ABCB11, ABCC6, ABCC8, ABCD1, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ADA, ADAMTS2, ADAR, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDH7A1, ALDOB, ALG6, ALPL, AMT, AP1S1, AP3B1, AR, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V1B1, ATP7B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BSND, BTD, CANT1, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHAT, CHM, CHRNE, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA3, CNGB3, COL4A3, COL4A5, COL7A1, COLQ, CPT1A, CPT2, CRB1, CTNS, CTSD, CTSF, CTSK, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, DBT, DCLRE1C, DHCR7, DHDDS, DKC1, DLD, DMD, DNAH5, DNAI1, DNAI2, DNAJC5, DOK7, DPYD, DYSF, EDA, EDAR, EMD, ERCC2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EYS, F11, F2, F5, F8, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, G6PD, GAA, GALC, GALK1, GALNT3, GALT, GAMT, GBA, GBE1, GCDH, GDF5, GFPT1, GJB1, GJB2, GJB6, GLA, GLB1, GLDC, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GRHPR, GRN, GUCY2D, HADH, HADHA, HAX1, HBA1, HBA2, HBB, HEPACAM, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HLCS, HMGCL, HOGA1, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B3, HSD17B4, HSD3B2, IDS, IDUA, IKBKAP, IL2RG, ISPD, IVD, KCNJ11, KCTD7, L1CAM, LAMA3, LAMB3, LAMC2, LARGE, LCA5, LHCGR, LIFR, LIPA, LIPH, LOXHD1, LPL, LRPPRC, LYST, MAN2B1, MCCC1, MCCC2, MCOLN1, MED17, MEFV, MFSD8, MKKS, MKS1, MLC1, MMAA, MMAB, MMADHC, MPI, MPL, MPV17, MRE11A, MTHFR, MTM1, MTTP, MUT, MYO7A, NAGLU, NAGS, NBN, NDUFAF6, NEB, NPC1, NPC2, NPHS1, NPHS2, NR2E3, NTRK1, OPA3, OTC, PAH, PCCA, PCCB, PCDH15, PDHA1, PDHB, PEPD, PET100, PEX1, PEX10, PEX12, PEX2, PEX26, PEX6, PEX7, PFKM, PHGDH, PKHD1, PMM2, POLG, POMGNT1, POMT1, POMT2, PPT1, PRPS1, PSAP, PUS1, PYGL, PYGM, RAB23, RAG1, RAG2, RAPSN, RARS2, RDH12, RNASEH2A, RNASEH2B, RNASEH2C, RPE65, RS1, RTEL1, SACS, SAMD9, SAMHD1, SBDS, SEPSECS, SERPINA1, SGCA, SGCB, SGCG, SGSH, SLC12A3, SLC12A6, SLC17A5, SLC22A5, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC39A4, SLC4A11, SLC6A8, SMN1, SMPD1, ST3GAL5, STAR, STS, SUMF1, TAT, TCIRG1, TECPR2, TFR2, TGM1, TH, TMEM216, TPP1, TREX1, TRIM37, TSEN2, TSEN34, TSEN54, TTC8, TTN, TTPA, UBR1, UGT1A1, USH1C, USH2A, VPS13A, VPS53, VRK1, XPA, XPC, ZFYVE26, 

CentoScreen List of Diseases

17-beta-hydroxysteroid dehydrogenase deficiency, type III ; 2-Methylbutyryl-CoA dehydrogenase deficiency; 3-hydroxy-3-methylglutaryl CoA lyase deficiency; 3-hydroxyacyl-CoA dehydrogenase deficiency; 3-Methylcrontonyl-CoA carboxylase 1 deficiency; 3-Methylcrontonyl-CoA carboxylase 2 deficiency; 3-methylglutaconic aciduria, type III; 3-phosphoglycerate dehydrogenase deficiency; ; Abetalipoproteinemia; Achalasia-addisonianism-alacrima syndrome ; Achondrogenesis Ib;; Achromatopsia 2, CNGA3-related; Achromatopsia 3, CNGB3-related; Acrodermatitis enteropathica; Acromesomelic dysplasia, Hunter-Thompson type; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Adrenoleukodystrophy (X-linked); Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) ; Aicardi-Goutieres syndrome 4; Aicardi-Goutieres syndrome 2; Aicardi-Goutieres syndrome 3, RNASEH2C-related; Aicardi-Goutieres syndrome 5; Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome type 1, TREX1-related; Alkaptonuria; Alpha-1 antitrypsin deficiency; Alpha-mannosidosis type I & II; Alpha-thalassemia; Alport syndrome; Alport syndrome 2; Alport syndrome, X-linked; Amish infantile epilepsy syndrome; Androgen insensitivity syndrome; Argininosuccinic aciduria; Aromatase deficiency; Arthrogryposis, mental retardation and seizures ; Arts Syndrome;  ; Asparagine Synthetase deficiency; Aspartylglycosaminuria ; Ataxia with vitamin E deficiency; Ataxia-telangiectasia; Ataxia-telangiectasia-like disorder 1; Atelosteogenesis II;; Atypical Gaucher disease; ; Atypical Krabbe disease; Autosomal recessive corneal dystrophy; Autosomal recessive spastic paraplegia-78 (SPG78); Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 13; ; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 4; Bardet-Biedl syndrome 6; ; Bardet-Biedl syndrome 7; Bardet-Biedl syndrome 8; ; Bardet-Biedl syndrome 9; Bartter syndrome, type IV ; Beta-ketothiolase deficiency (Alpha-methylacetoacetic aciduria); Beta-thalassemia, and other hemoglobinopathies; Bilateral frontoparietal polymicrogyria; Biotinidase deficiency; Bjornstad syndrome; ; Bloom syndrome; Brachydactyly type A1,C;  ; Canavan disease; Cardiomyopathy, dilated, 1X; Carnitine palmitoyltransferase IA deficiency; Carnitine palmitoyltransferase II deficiency; Carpenter syndrome; Cerebrotendinous xanthomatosis; Charcot-Marie-Tooth disease, GJB1-related ; Charcot-Marie-Tooth disease, PRPS1-related; ; Chediak-Higashi syndrome; Cholesteryl ester storage disease; Chondrodysplasia, Grebe type; ; Choreoacanthocytosis; Choroidal dystrophy, central areolar 1; Choroideremia; Citrullinemia, type I ; Combined cellular and humoral immune defects with granulomas; Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Congenital amegakaryocytic thrombocytopenia; Congenital bilateral absence of vas deferens; Congenital disorder of glycosylation, type IA ; Congenital disorder of glycosylation, type IB; Congenital disorder of glycosylation, type Ic; Congenital insensitivity to pain with anhidrosis; Congenital lipoid adrenal hyperplasia; Congenital myasthenic syndrome 11, RAPSN-related; ; Congenital myasthenic syndrome 12; Congenital myasthenic syndrome 4A; ; Congenital myasthenic syndrome 4B; ; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 5; Congenital myasthenic syndrome 6 ; Congenital myasthenic syndrome, 10; Congential adrenal hyperplasia due to 3-Beta-hydroxysteroid dehydrogenase deficiency, type II; Corneal dystrophy and perceptive deafness syndrome; ; Cortisone methyl oxidase type I deficiency; Cortisone methyl oxidase type II deficiency; ; Creatine transporter defect, SLC6A8-related (Cerebral creatine deficiency syndrome 1); Crigler-Najjar syndrome, type I;; Crigler-Najjar syndrome, type II; ; Cystic ibrosis; ; Cystinosis, atypical nephropathic; ; Cystinosis, late-onset juvenile or adolescent nephropathic;; Cystinosis, nephropathic; ; Cystinosis, ocular nonnephropathic; D-bifunctional protein deficiency; ; Deafness, autosomal recessive 12; Deafness, autosomal recessive 18A  ; Deafness, autosomal recessive 2; Deafness, autosomal recessive 23; Deafness, autosomal recessive 77; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Desbuquois dysplasia, type I; ; Diastrophic dysplasia;; Dihydrolipoamide dehydrogenase deficiency; Dihydropyrimidine dehydrogenase deficiency ; Du Pan syndrome; ; Duchenne/Becker muscular dystrophy; Dyskeratosis congenita, autosomal recessive 5; Dyskeratosis congenita, X-linked; Dystrophic epidermolysis bullosa, autosomal recessive; Early onset myopathy with fatal cardiomyopathy; ; Ehlers Danlos syndrome, type VIIC ; Emery-Dreifuss muscular dystrophy; Enhanced S-cone syndrome; Epidermolysis bullosa, generalized atrophic benign ; Epiphyseal dysplasia, multiple, 4 ; Epiphyseal dysplasia, multiple, 7; Ethylmalonic encephalopathy; Fabry disease; Factor XI deficiency; Familial dysautonomia (HSAN3); Familial hyperinsulinemic hypoglycemia type 1; Familial hyperinsulinemic hypoglycemia type 2, KCNJ11-related; Familial hyperinsulinemic hypoglycemia, familial 4; ; Familial Mediterranean fever; Familial tumoral calcinosis, normophosphatemic; Fanconi anemia, complementation group A; Fanconi anemia, complementation group C; Fanconi Anemia, complementation group G; Fetal akinesia deformation sequence; Fetal akinesia deformation sequence, DOK7-related; ; FMR1-related primary ovarian insuiciency; ; Fragile X syndrome; ; Fragile X-associated tremor/ataxia syndrome; Fumarase deficiency ; Galactokinase deficiency ; Galactose epimerase deficiency; Galactosemia; Gaucher disease; Geroderma osteodysplastica; Gitelman syndrome; Glucose-6-phosphate dehydrogenase deficiency; ; Glutaric acidemia, type I; Glutaric acidemia, Type IIA; Glutaric acidemia, Type IIB; Glutaric acidemia, Type IIC; Glycine encephalopathy, AMT-related; Glycine encephalopathy, GLDC-related; Glycogen storage disease VI; Glycogen storage disease, type 1b; ; Glycogen storage disease, type IA; Glycogen storage disease, type II; Glycogen storage disease, type III (a&b); Glycogen storage disease, type IV; Glycogen storage disease, type V; Glycogen storage disease, type VII; GM1-gangliosidosis; ; GM2-ganlgliosidosis; Gout, PRPS1-related; GRACILE syndrome; ; Guanidinoacetate methyltransferase deficiency; Gycogen storage disease type 1c; Hemolytic anemia due to G6PD deficiency; Hemophilia A; Hemophilia B; Hepatocerebral mitochondrial DNA depletion syndrome 6, MPV17-related ; Hereditary fructose intolerance; Hereditary hemochromatosis type 2A, HFE2-related; Hereditary hemochromatosis type 3, TFR2-related; Hereditary spastic paraparesis, type 49; Herlitz junctional epidermolysis bullosa, LAMA3-related;  ; Herlitz junctional epidermolysis bullosa;; Herlitz junctional epidermolysis bullosa; ; Hermansky-Pudlak syndrome, type 1; Hermansky-Pudlak syndrome, type 2; Hermansky-Pudlak syndrome, type 3; Hermansky-Pudlak syndrome, type 4; Hermansky-Pudlak syndrome, type 5; Hermansky-Pudlak syndrome, type 6; Holocarboxylase synthetase deficiency; Homocystinuria due to MTHFR deficiency, severe; ; Homocystinuria, CBS-related; HPRT-related gout; Hyperbilirubinemia, familial transient neonatal Gilbert syndrome ; Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (Ornithine translocase deficiency); Hyperphospatemic tumoral calcinosis, familial; Hypohidrotic ectodermal dysplasia 10B; Hypohidrotic ectodermal dysplasia, X-linked; Hypophosphatasia, autosomal recessive; Inclusion body myopathy, type II; Infantile sialic acid storage disorder; Isovaleric acidemia; Johanson-Blizzard syndrome; Joubert syndrome 2; ; Joubert syndrome 28; ; Joubert syndrome 5; ; Juvenile retinoschisis, X-linked; Krabbe disease; Kufor-Rakeb syndrome (KRS); ; L1 syndrome; ; Lamellar ichthyosis type I; Laryngoonychocutaneous syndrome; ; Leber congenital amaurosis 1; ; Leber congenital amaurosis 10; ; Leber congenital amaurosis 13; Leber congenital amaurosis 2;  ; Leber congenital amaurosis 5, LCA5-related; Leber congenital amaurosis 8; ; Leigh syndrome with COX deficiency (French Canadian type); Leigh syndrome; ; Lesch-Nyhan syndrome; ; Leydig cell hypoplasia;  ; Limb-girdle muscualr dystrophy 2J; ; Limb-girdle muscular dystrophy, type 2A; Limb-girdle muscular dystrophy, type 2B; ; Limb-girdle muscular dystrophy, type 2C; Limb-girdle muscular dystrophy, type 2D; Limb-girdle muscular dystrophy, type 2E; Limb-girdle muscular dystrophy, type 2I; ; Lipoprotein lipase deficiency; Long-chain 3-Hydroxyacyl-CoA dehydrogenase deficiency;  ; Luteinizing hormone resistance; Macular dystrophy with central cone involvement; Maple syrup urine disease, type Ia; Maple syrup urine disease, type Ib; Maple syrup urine disease, type II; MASA syndrome, CRASH syndrome; McKusick-Kaufman syndrome; Meckel syndrome 1; Meckel syndrome 2; Meckel syndrome 4; ; Medium chain Acyl-CoA dehydrogenase deficiency; MEDNIK syndrome; Megalencephalic Leukoencephalopathy with subcortical cysts, type I; Megalencephalic Leukoencephalopathy with Subcortical Cysts, types 2A & 2B; Metachromatic leukodystrophy; Metachromatic leukodystrophy due to SAP-b deficiency; ; Methylmalonic aciduria mut(0) type, MUT-related; Methylmalonic aciduria, cblA type; Methylmalonic aciduria, cblB type; Methylmalonic aciduria, cblD type; Microcephaly, postnatal progressive, with seizures and brain atrophy ; Mitochondrial complex 1 deficiency, NDUFAF6-related; Mitochondrial complex III deficiency, nuclear type 1; Mitochondrial complex IV deficiency; Mitochondrial DNA depletion syndrome type 4A (Alpers type); ; Mitochondrial DNA depletion syndrome type 4B (MNGIE type); ; Mitochondrial myopathy and sideroblastic anemia 1; Mitochondrial Recessive Ataxia Syndrome (includes SANDO and SCAE); ; Mitochondrial trifunctional protein deficiency; Miyoshi myopathy and distal myopathy with anterior tibial onset; Mucolipidosis III gamma; Mucolipidosis type IV; Mucolipidosis, type II alpha/beta; ; Mucolipidosis, type III alpha/beta; Mucopolysaccharidosis type IIIA (Sanilippo A); Mucopolysaccharidosis type IIIB (Sanilippo B); Mucopolysaccharidosis type IIID; Mucopolysaccharidosis type IVB; Mucopolysaccharidosis, type II (Hunter syndrome); Mucopolysaccharidosis, type IIIC; Mucopolysaccharidosis, type VI; Mucopolysachharidosis, type I (Hurler syndrome); Mulibrey nanism; Multiple sulphatase deficiency; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 3A; ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type 3B;; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type 6B; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; ; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;  ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type 3C; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Muscular dystrophy-dystroglycanopathy type 4A (Walker-Warburg syndrome);   ; Muscular dystrophy-dystroglycanopathy type 4B; ; Muscular dystrophy-dystroglycanopathy type 4C; ; Muscular dystrophy-dystroglycanopathy, congenital with brain and eye anomalies, type  6A (Walker-Warburg); ; Myotubular myopathy, MTM1-related; N-acetylglutamate synthase deficiency; Nemaline myopathy 2; Nephrotic syndrome, type I; Nephrotic syndrome, type II; Neu-Laxova syndrome 1; Neural tube defects folate-sensitive ; Neuronal ceroid lipofuscinosis 1, PPT1-related; Neuronal ceroid lipofuscinosis 10; Neuronal ceroid lipofuscinosis 13; Neuronal ceroid lipofuscinosis 14 (progressive myoclonic epilepsy type 3) ; Neuronal ceroid lipofuscinosis 2, TPP1-related; ; Neuronal ceroid lipofuscinosis type 11; Neuronal ceroid lipofuscinosis type 4; Neuronal ceroid lipofuscinosis, CLN3-related; Neuronal ceroid lipofuscinosis, CLN5-related; Neuronal ceroid lipofuscinosis, CLN6-related; Neuronal ceroid lipofuscinosis, CLN8-related; ; Neuronal ceroid-lipofuscinosis 7, MFSD8-related; ; Niemann-Pick disease type A; ; Niemann-Pick disease type B; Niemann-pick disease, type C1; Niemann-pick disease, type C2; Nijmegen breakage syndrome; non-Herlitz junctional epidermolysis bullosa; Nonketotic hyperglycinemia; Nonsyndromic hearing loss, GJB2-related ; Nonsyndromic Hearing Loss, GJB6-related; Northern epilepsy; Omenn syndrome; ; Ornithine transcarbamylase deficiency; Osteopetrosis type 1, infantile malignant; Pendred syndrome; ; Peroxisomal acyl-CoA oxidase deficiency; Peroxisome biogenesis disorder 9B; Perrault syndrome 1; Phenylalanine hydroxylase deficiency; Polycystic kidney disease, autosomal recessive; Polyglandular autoimmune syndrome, type I; Pontocerebellar hypoplasia 2D; Pontocerebellar hypoplasia 2E; Pontocerebellar hypoplasia type 1B; Pontocerebellar hypoplasia type 2A;; Pontocerebellar hypoplasia type 2B; Pontocerebellar hypoplasia type 2C; pontocerebellar hypoplasia type 4;; Pontocerebellar hypoplasia type 5; Pontocerebellar hypoplasia type 6; Pontocerebellar hypoplasia, type 1A; Primary carnitine deficiency; Primary ciliary dyskinesia type 1, DNAI1-related; Primary ciliary dyskinesia type 3, DNAH5-related; Primary ciliary dyskinesia type 9, DNAI2-related; Primary congenital glaucoma 3A; Primary hyperoxaluria, type I; Primary hyperoxaluria, type II; Primary hyperoxaluria, type III; Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive type 1; Progressive familial intrahepatic cholestasis, type II; Prolidase deficiency; Propionic acidemia, PCCA-related; Propionic acidemia, PCCB-related; Pseudoxanthoma elasticum; Pycnodysostosis; Pyridoxine-dependent epilepsy; Pyruvate dehydrogenase E1-alpha deficiency, X-Linked; Pyruvate dehydrogenase E1-beta deficiency, autosomal recessive; Renal tubular acidosis and deafness, ATP6V1B1-related; Retinitis pigmentosa 20 ; Retinitis pigmentosa 25, EYS-related; Retinitis pigmentosa 26; Retinitis pigmentosa 28; Retinitis pigmentosa 39; Retinitis pigmentosa 51 ; Retinitis pigmentosa 59; Retinitis pigmentosa-12, autosomal recessive; Rhizomelic chondrodysplasia punctata, type I; ; Rhizomelic chondrodysplasia punctata, type II; Rhizomelic chondrodysplasia punctata, type III; Salih myopathy ; Salla disease; ; Sandhof disease; Segawa syndrome (tyrosine hydroxylase deficiency); Senior-Loken syndrome 6; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, RAG1-related; ; Severe combined immunodeficiency, X-linked; Severe congenital neutropenia 3, autosomal recessive; Short chain Acyl-CoA dehydrogenase deficiency; Shwachman-Diamond syndrome ; Sjögren-Larsson syndrome ; Smith-Lemli-Opitz syndrome ; Spastic ataxia of Charlevoix-Saguenay, autosomal recessive; Spastic paraplegia type 15, ZFYVE26-related; Spinal muscular atrophy ; Spinocerebellar ataxia type 7; Stuve-Wiedemann syndrome; Sulfate transporter-related osteochondrodysplasia; ; Tay-Sachs disease; ; Trifunctional protein deficiency; Tyrosinemia type II (Richner-Hanhart syndrome); Tyrosinemia, type I; Usher syndrome, Type 2A;; Usher syndrome, type IB; ; Usher syndrome, type IC;; Usher syndrome, type ID; ; Usher syndrome, type IF; ; Usher syndrome, type IIIA; Very long chain Acyl-CoA dehydrogenase deficiency; Vitamin D-dependent rickets, type I; Walker-Warburg (Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; ; Wilson disease; Woolly hair/hypotrichosis, autosomal recessive; Xeroderma pigmentosum; Xeroderma pigmentosum group A; Xeroderma pigmentosum group C; X-linked ichthyosis; Zellweger syndrome spectrum, PEX10- related; Zellweger syndrome spectrum, PEX12- related; Zellweger syndrome spectrum, PEX1-related; Zellweger syndrome spectrum, PEX26- related; Zellweger syndrome spectrum, PEX2-related; Zellweger syndrome spectrum, PEX6-related



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