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Conditions
(CF) Cystic Fibrosis
17 Alpha-Hydroxylase/17,20-Lyase Deficiency
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH)
3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency
3-Methylglutaconic Aciduria Type I
3-Methylglutaconic Aciduria Type VII (MGCA7)
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
ADNP syndrome
APECED
APRT Deficiency
Achalasia-Addisonianism-Alacrima
Achondrogenesis
Achondroplasia (ACH)
Achromatopsia
Acid Sphingomyelinase
Acral Peeling Skin Syndrome
Acro-Renal-Ocular syndrome
Adams-Oliver syndrome
Adenylosuccinate Lyase Deficiency
Adult-onset autosomal dominant leukodystrophy (ADLD)
Aicardi-Goutieres Syndrome
Al-Awadi-Raas-Rothschild syndrome
Alagille syndrome
Albinism and Deafness (COMMAD)
Alexander Disease
Allgrove Syndrome
Alpers syndrome (Alpers-Huttenlocher syndrome)
Alpha-Dystroglycanopathies
Alpha-Methylacyl-CoA Racemase Deficiency
Alport Syndrome
Alstrom Syndrome
Alzheimer Disease
Ambiguous external genitalia
Amyotrophic lateral sclerosis (ALS)
Anauxetic Dysplasia
Andersen-Tawil Syndrome
Androgen Insensitivity Syndrome (AIS)
Angelman syndrome (AS)
Aniridia
Anophthalmia
Anterior Segment Dysgenesis
Anterior segment anomalies with or without cataract
Antley-Bixler Syndrome (ABS)
Apert Syndrome
Arginase Deficiency
Argininosuccinic Aciduria
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Arterial Tortuosity syndrome
Arthrochalasia Ehlers-Danlos Syndrome
Arthrogryposis multiplex congenita
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome
Arts Syndrome
Aspartylglucosaminuria
Ataxia
Ataxia with oculomotor apraxia
Ataxia-telangiectasia
Atrial Septal Defect
Atrioventricular Canal Defect
Atrioventricular Septal Defect
Attenuated Familial Adenomatous Polyposis (AFAP)
Atypical Rett Syndrome
Atypical parkinsonism
Autism spectrum disorders
Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A
Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA)
Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB)
Autoimmune Polyglandular Syndrome
Autosomal Dominant Polycystic Kidney Disease
Autosomal Recessive Congenital Ichthyosis
Autosomal Recessive Polycystic Kidney Disease
Axenfeld-Rieger Syndrome
Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N)
Bainbridge-Ropers syndrome
Bannayan-Riley-Ruvalcaba Syndrome
Baraitser-Winter Syndrome
Bardet-Biedl Syndrome
Barth Syndrome
Bartter Syndrome
Bartter Syndrome/ SNHL
Basal cell nevus syndrome
Beare-Stevenson Cutis Gyrata Syndrome
Becker Muscular Dystrophy (BMD)
Benign Familial Infantile Seizures (BFIS)
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Benign Recurrent Intrahepatic Cholestasis (BRIC)
Benign Recurrent Intrahepatic Cholestasis-2 (BRIC2)
Benign brain tumors
Bent Bone Dysplasia
Best Vitelliform Macular Dystrophy
Bestretinopathy
Beta-Ketothiolase Deficiency
Biopterin Metabolism
Biotin-responsive Basal Ganglia Disease
Biotinidase Deficiency
Birt-Hogg-Dube Syndrome
Bjornstad Syndrome
Blackfan-Diamond Syndrome
Bloom Syndrome
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Bothnia retinal dystrophy
Bradykinesia
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Branchiooculofacial Syndrome
Branchiootic Syndrome
Branchiootorenal Syndrome
Breast Cancer
Brittle Cornea syndrome
Brody Disease
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Bruck syndrome
Brugada Syndrome
Bruton type agammaglobulinemia
Bullous Ichthyosiform Erythroderma
CA II Deficiency
CADASIL
CARASIL
CFTR-Related Disorders (CFTR-RD)
CFTR-Related Metabolic Syndrome (CRMS)
CHARGE Syndrome
CHILD syndrome
CK Syndrome
CMT with Focal Segmental Glomerulosclerosis
COACH Syndrome
CRASH Syndrome
Cabezas syndrome
Caffey disease
Campomelic Dysplasia (CD)
Canavan Disease
Cantu Syndrome
Capillary Malformation-Arteriovenous Malformation syndrome (CV-AVM)
Cardio-Facio-Cutaneous Syndrome
Cardiofaciocutaneous Syndrome
Carney Complex
Carnitine Acylcarnitine Translocase Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II (CPT2) Deficiency
Carpenter Syndrome
Carrier/Variant-Specific Testing
Carrier/Variant-Specific Testing - Nuclear Variants
Carrier/Variant-Specific Testing - mtDNA Variants
Cartilage-Hair Hypoplasia
Cataract
Cataract 21
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Cataract 36
Cataract 40
Cataract 41
Cataract 43
Cataract 45
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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Cenani-Lenz syndrome
Central Core Disease
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Cerebellar Ataxia
Cerebellar Hypoplasia
Cerebellar atrophy
Cerebellar stroke
Cerebral Cavernous Malformation (CCM)
Cerebral Creatine Deficiency Syndrome-1 (CCDS1)
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma (CEDNIK) Syndrome
Cerebral Palsy
Cerebrotendinous xanthomatosis (CTX)
Chanarin-Dorfman syndrome
Char Syndrome
Charcot Marie Tooth (CMT)
Cherubism
Chondrocalcinosis 2
Chondrodysplasia Punctata (CDPX1 and CDPX2)
Chorea
Choroideremia
Chromosomal Abnormalities
Chronic Granulomatous Disease (CGD)
Chronic Infantile Neurologic Cutaneous and Articular Syndrome
Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
Chronic Kidney Disease Risk
Chronic Progressive External Ophthalmoplegia (CPEO)
Chronic or recurrent acute pancreatitis
Chudley-McCullough syndrome
Ciliopathies
Citrin deficiency
Classic Citrullinemia
Classical Ehlers-Danlos syndrome
Clouston Syndrome
Coarctation of the Aorta
Cobalamin Metabolism and Related Disorders
Cockayne syndrome
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Coffin-Siris syndrome
Cohen Syndrome
Coloboma
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Combined D-2- and L-2-Hydroxyglutaric Aciduria
Combined Malonic and Methylmalonic Aciduria (CMAMMA)
Combined Saposin Deficiency
Combined dystonia
Combined oxidative phosphorylation deficiency
Complex I Deficiency
Complex II Deficiency (MT-C2D)
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Complex IV(Cytochrome C Oxidase) Deficiency
Complex V (ATP Synthesis) Deficiency
Complicated Hereditary Spastic Paraplegias
Congenital Amegakaryocytic Thrombocytopenia (CAMT)
Congenital Anomalies
Congenital Contractural Arachnodactyly
Congenital Disorder of Glycosylation
Congenital Heart Defect
Congenital Hypotonia
Congenital Insensitivity to Pain (CIP)
Congenital Insensitivity to Pain with Anhidrosis
Congenital Muscular Dystrophy (CMD)
Congenital Myasthenia Syndrome
Congenital Myopathies
Congenital absence of the vas deferens (CAVD)
Cornelia de Lange Syndrome
Cortical Brain Malformations
Costello Syndrome
Cousin syndrome
Cowden Syndrome
Craniofacial-deafness-hand Syndrome
Craniofrontonasal syndrome
Craniometaphyseal Dysplasia
Craniosynostosis
Creatine Deficiency Syndromes
Crouzon Syndrome (with or without Acanthosis Nigricans)
Cutaneous Mastocytosis
Cutis Laxa
Cyclic Neutropenia
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency
Cytochrome P450 Oxidoreductase (POR) Deficiency
DDX3X-related Disorder
DFNB4 Nonsyndromic Hearing Loss and Deafness
DRLPA
Danon Disease
Darier Disease
Deafness and Myopia
Deafness-Infertility Syndrome
Dementia
Dent Disease
Dent Disease 2
Dentatorubral-Pallidoluysian Atrophy
Dentinogenesis Imperfecta and Deafness
Developmental Delay
Developmental Eye Disorders
Dextrocardia
DiGeorge syndrome
Diabetes and Hearing Loss
Diamond-Blackfan Anemia
Dihydrolipoamide Dehydrogenase Deficiency
Dihydropteridine Reductase (DHPR) Deficiency
Dilated Cardiomyopathy (DCM)
Dimethylglycine Dehydrogenase Deficiency
Discordant external genitalia
Disseminated bronchiectasis
Distal Arthrogryposis
Distal Hereditary Motor Neuropathy
Distal Renal Tubular Acidosis
Dopa-Responsive Dystonia
Dopa-responsive parkinsonism
Double Outlet Right Ventricle
Duane-Radial Ray syndrome
Duchenne Muscular Dystrophy (DMD)
Dyskeratosis Congenita
Dyslipidemia
Dystonia
Dystonia-deafness syndromes
Dystrophia Myotonica
Dystrophia Myotonica 2
Dystrophic Epidermolysis Bullosa (DEB)
Dystrophinopathies
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Ebstein Anomaly
Ectodermal Dysplasia
Ectrodactyly
Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome
Ectrodactyly/Split Hand-Split Foot Malformation
Ehlers-Danlos Syndrome
Ellis-van Creveld Syndrome
Emery-Dreifuss Muscular Dystrophy (EDMD)
Encephalopathy due to defective mitochondrial and peroxisomal fission
Endocrine Tumor
Endometrial Cancer
Enhanced S-Cone Syndrome
Epidermolysis Bullosa (EB)
Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa, Junctional Type
Epidermolysis Bullosa, Junctional with Muscular Dystrophy
Epidermolysis Bullosa, Junctional with Pyloric Atresia
Epidermolytic Ichthyosis
Epidermolytic Palmoplantar Keratoderma (EPPK)
Epilepsy
Epilepsy and Mental Retardation Limited to Females
Epilepsy with Variable Learning and Behavioral Disorders
Epileptic Encephalopathy
Episodic Ataxia
Episodic Pain Syndrome Type 3
Erythrokeratodermia Variabilis (EKV)
Ethylmalonic Encephalopathy
FG syndrome
FGFR-Related Skeletal Dysplasias
FOXG1 syndrome
FRDA
Fabry Disease
Familial Adenomatous Polyposis (FAP)
Familial Amyloid Polyneuropathy
Familial Cold Autoinflammatory Syndrome
Familial Cold Urticaria syndrome
Familial Cutaneous Malignant Melanoma
Familial Dysautonomia
Familial Exudative Vitreoretinopathy
Familial Hibernian Fever
Familial Hypercholesterolemia
Familial Hypocalciuric Hypercalcemia (FHH)
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
Familial Isolated Hyperparathyroidism (FIHP)
Familial Isolated Hypoparathyroidism (FIH)
Familial Mediterranean Fever
Familial Medullary Thyroid Cancer
Familial Progressive Hyperpigmentation with or without Hypopigmentation
Familial Transthyretin Amyloidosis
Fanconi-Bickel Syndrome
Fatty Acid Oxidation Disorders
Fazio-Londe Syndrome
Feingold Syndrome
Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome
Fetus with ultrasound anomalies
Fibrochondrogenesis
Focal Dermal Hypoplasia
Focal Segmental Glomerulosclerosis
Fragile X Syndrome
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Free Sialic Acid Storage Disorders
Friedreich Ataxia
Friedreich Spinocerebellar
Frontometaphyseal dysplasia
Frontotemporal Dementia (FTD)
Frontotemporal lobar degeneration (FTLD)
Fucosidosis
Fumarase Deficiency
Fumarate Hydratase Deficiency
Fundus Albipunctatus
Fundus Flavimaculatus
GM1-Gangliosidosis
GRACILE Syndrome
GRIN2B-related Neurodevelopmental Disorder
GTP Cyclohydrolase I Deficiency
Galactokinase deficiency
Galactosemia
Gangliosidosis
Gastrointestinal Stromal Tumor
Gaucher Disease
Gender Verification
Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Genitopatellar syndrome
Giant Axonal Neuropathy (GAN)
Gitelman Syndrome
Glucose Transporter Type I Deficiency Syndrome
Glutaric Aciduria Type I
Glutaric Aciduria Type II
Glutathione Synthetase Deficiency (GSSD)
Glycerol Kinase Deficiency
Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb
Glycogen Storage Disease IV
Glycogen Storage Disease IXc (GSD9C)
Glycogen Storage Disease IXd (GDS9D)
Glycogen Storage Disease Type II
Glycogen Storage Disease Type IXa
Glycogen Storage Disease Type IXb (GSD9B)
Glycogen Storage Disease Type V (GSD V)
Glycogen Storage Disease VII (GSD7)
Glycogen Storage Disease X (GSD10)
Glycogen Storage Disease XI (GSD11)
Glycogen Storage Disease XII (GSD12)
Glycogen Storage Disease XIII (GSD13)
Glycogen Storage Disease XV (GSD15)
Goldmann-Favre Syndrome
Goltz Syndrome
Gorlin Syndrome
Greenberg skeletal dysplasia
Greig Cephalopolysyndactyly Syndrome
HMG-CoA Lyase Deficiency
HSAN with Spastic Paraplegia
Hadju-Cheney Syndrome
Hailey-Hailey disease
Haim-Munk Syndrome
Harlequin Ichthyosis
Hartsfield syndrome
Haw River syndrome
Hawkinsinuria
Hay-Wells Syndrome
Hearing Loss
Hemiplegic migraine
Hereditary Angioedema (HAE) Type I-II
Hereditary Angioedema (HAE) Type III
Hereditary Ataxia
Hereditary Fructose Intolerance
Hereditary Hemorrhagic Telangiectasia (HHT)
Hereditary Inclusion Body Myopathy (HIBM)
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
Hereditary Motor and Sensory Neuropathy (HMSN)
Hereditary Multiple Exostoses (HME)
Hereditary Myopathy with Lactic Acidosis
Hereditary Neuropathy with Liability to Pressure Palsy (HNPP)
Hereditary Pancreatitis
Hereditary Retinoblastoma
Hereditary Sensory and Autonomic Neuropathy (HSAN)
Hereditary Sensory and Autonomic Neuropathy IE (HSAN1E)
Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
Hereditary Spastic Paraplegia (HSP)
Hereditary Spastic Paraplegia - Inborn Errors of Metabolism
Herlitz Junctional Epidermolysis Bullosa
Hermansky-Pudlak Syndrome
Heterotaxy
Hidrotic ectodermal dysplasia
Hirschsprung Disease
Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency
Holoprosencephaly
Holt-Oram syndrome
Homocystinuria due to Cystathionine Beta-Synthase Deficiency
Hoyeraal-Hreidarsson Syndrome (HHS)
Hunter Syndrome
Hurler Syndrome
Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency
Hyper-IgD Syndrome
Hyper-IgE Syndrome (HIES)
Hyper-IgM Syndromes
Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD)
Hyperammonemia Related Disorders
Hyperekplexia
Hyperkalemic Periodic Paralysis
Hyperostosis-hyperphosphatemia syndrome
Hyperparathyroidism-Jaw Tumor Syndrome
Hyperphenylalaninemia
Hyperphosphatemic familial tumoral calcinosis
Hypertrophic Cardiomyopathy (HCM)
Hypo-/Anhidrotic Ectodermal Dysplasia
Hypochondroplasia (HCH)
Hypogonadotropic Hypogonadism (HH)
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
Hypokalemia
Hypokalemic Periodic Paralysis
Hypomagnesemia
Hypomyelinating Leukodystrophy
Hypomyelination and Congenital Cataract (HCC)
Hypophosphatasia
Hypophosphatemic nephrolithiasis/osteoporosis
Hypophosphatemic rickets
Hypoplastic Left Heart
IRAK4 Deficiency
Ichthyosis Follicularis with Atrichia and Photophobia (IFAP)
Ichthyosis Linearis Circumflexa
Ichthyosis Prematurity Syndrome
Ichthyosis Vulgaris
Ichthyosis, Spastic quadriplegia, and Intellectual Disablity
Ichthyosis, X-linked (Steroid Sulfatase Deficiency)
Idiopathic Infantile Hypercalcemia
Incontinentia Pigmenti (IP)
Infantile Liver Failure Syndrome
Inherited Erythromelalgia (IEM)
Intellectual disability
Interrupted Aortic Arch
Interstitial lung disease (ILD)
Intrahepatic Cholestasis of Pregnancy
Invasive Pneumococcal Disease
Iris Hypoplasia
Isobutyryl-CoA Dehydrogenase Deficiency
Isolated Gonadotropin-releasing Hormone Deficiency (IGD)
Isovaleric Acidemia
Jackson-Weiss Syndrome
Jensen Syndrome
Jervell and Lange-Nielsen Syndrome
Jobs Syndrome
Joubert Syndrome
Juvenile Amyotrophic Lateral Sclerosis (JALS) / Juvenile Lou Gehrig Disease
Juvenile Polyposis Syndrome (JPS)
KBG Syndrome
Kabuki syndrome (KS)
Kallmann Syndrome
Kearns-Sayre Syndrome (KSS)
Kennedy Disease
Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
Keratosis Follicularis Spinulosa Decalvans (KFSD)
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK) Syndrome
Keutel syndrome
Kleefstra Syndrome
Krabbe Disease
LIG4 Syndrome
Lacrimo-Auriculo-Dental-Digital syndrome
Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome
Lactic Acidemia
Lactic acidosis
Lafora Disease
Lamellar Ichthyosis
Laterality Defect
Lebers Hereditary Optic Neuropathy (LHON)
Left Ventricular Noncompaction (LVNC)
Left Ventricular Outflow Tract Obstruction
Legius Syndrome
Leigh Syndrome
Lethal Congenital Contracture Syndrome
Lethal Multiple Pterygium Syndrome
Leukemia
Leukodystrophy
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with vanishing white matter
Li-Fraumeni Syndrome (LFS)
Liddle Syndrome
Limb-Girdle Muscular Dystrophy (LGMD)
Limb-Mammary Syndrome
Lipodystrophy
Lipoyltransferase 1 Deficiency (LIPT1)
Lissencephaly
Loeys-Dietz syndrome (LDS)
Long QT Syndrome (LQTS)
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Loricrin Keratoderma
Lou Gehrig's disease
Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)
Lower Motor Neuron Disease
Lujan syndrome (LS) (Lujan-Fyns syndrome)
Lynch Syndrome
Lysosomal Acid Lipase Deficiency
Lysosomal Storage Disorders
MASA Syndrome
MED13L Syndrome
Mabry syndrome
Machado-Joseph disease
Macrocephaly
Majeed Syndrome
Malonyl-CoA Decarboxylase Deficiency
Maple Syrup Urine Disease (MSUD)
Marfan Syndrome/LDS/Related Disorders
Maroteaux-Lamy Syndrome
Marshall syndrome
Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
Maternally Inherited Diabetes Mellitus (MIDM)
Maternally Inherited Diabetes and Deafness (MIDD)
Maturity-Onset Diabetes of the Young (MODY)
McArdle Disease
Meckel-Gruber Syndrome
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Medullary Cystic Kidney Disease
Melnick-Fraser Syndrome
Menkes Disease
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma (MEDNIK) Syndrome
Metabolic Myopathy
Metachondromatosis
Metachromatic Leukodystrophy
Metaphyseal Dysplasia without Hypotrichosis
Methionine Adenosyltransferase I/III Deficiency
Methylglutaconic Aciduria
Methylmalonic Acidemia
Microcephaly
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Microphthalmia
Mitis Junctional Epidermolysis Bullosa
Mitochondrial Complex I Deficiency
Mitochondrial Complex II Deficiency
Mitochondrial Complex III Deficiency
Mitochondrial Complex IV Deficiency
Mitochondrial Complex V Deficiency
Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA Multiple Deletions
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
Mitochondrial Encephalopathy
Mitochondrial Muscle Myopathy
Mitochondrial Myopathy (MM)
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
Mitochondrial Pyruvate Carrier Deficiency
Mitochondrial Recessive Ataxia Syndrome (includes SANDO and SCAE)
Mitochondrial Ribosomal Protein
Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
Mitochondrial Trifunctional Protein (MTP) Deficiency
Mohr-Tranebjaerg syndrome
Morquio B Disease
Morquio Syndrome A
Motor Neuron Disease
Movement Disorder
Mowat-Wilson Syndrome
MtDNA-related disorders
Muckle-Wells Syndrome
Mucolipidosis I
Mucolipidosis IV
Mucopolysaccharidosis IIIC
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis Type IVB
Mucopolysaccharidosis VI (MPSVI)
Mucopolysaccharidosis type I
Muenke Syndrome
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
Multiple Congenital Anomalies
Multiple Endocrine Neoplasia 2A
Multiple Endocrine Neoplasia 2B
Multiple Endocrine Neoplasia Type 1
Multiple Epiphyseal Dysplasia (MED)
Multiple Mitochondrial Dysfunctions Syndrome
Multiple Sulfatase Deficiency
Multiple syndromes associated with pathogenic variants in the TP63 gene
Muscle Defects with Respiratory Insufficiency
Muscular Dystrophy-Dystroglycanopathy (LGMD)
Myasthenia/Myasthenic Syndromes (Congenital)
Myelodysplastic syndrome
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
Myoclonus dystonia
Myofibrillar Myopathy (MFM)
Myotonia Atrophica
Myotonia Congenita
Myotonic Dystrophy
N-Acetylglutamate Synthase Deficiency (NAGS)
NOD
Naito-Oyanagi disease
Nemaline Myopathy
Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH) Syndrome
Neonatal Onset Multisystem Inflammatory Disease
Neonatal Severe Primary Hyperparathyroidism (NSHPT)
Neonatal respiratory failure
Nephrocalcinosis
Nephrolithiasis
Nephronophthisis
Nephrotic Syndrome
Nephrotic Syndrome Type 9 (NPHS9)
Netherton Syndrome
Neu-Laxova Syndrome
Neurodegeneration with Brain Iron Accumulation (NBIA)
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
Neuromyotonia
Neuronal Ceroid Lipofuscinoses (NCL)
Neuronal Ceroid-Lipofuscinosis 2 (CLN2)
Neuropathy
Neutrophil Immunodeficiency Syndrome
Nevoid basal cell carcinoma syndrome
Newfoundland Rod-Cone Dystrophy
Niemann-Pick Disease
Night Blindness
Non syndromic X-linked ID
Non-Herlitz Junctional Epidermolysis Bullosa
Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
Nonsyndromic Low-Frequency Sensorineural Hearing Loss
Noonan Syndrome
Noonan syndrome with multiple lentigines
Noonan-Like Syndrome
Norrie Disease
Nystagmus
Occipital Horn Disease
Oculo Facio Cardio Dental Syndrome
Oculocutaneous Albinism
Oculomotor apraxia
Oculopharyngeal Muscular Dystrophy (OPMD)
Odonto-onycho-dermal dysplasia (OODD)
Ohtahara Syndrome
Olmsted Syndrome
Optic Atrophy
Oral-Facial Digital Type 6
Oral-Facial-Digital syndrome Type 1
Ornithine Transcarbamylase (OTC) Deficiency
Ornithine Transcarbamylase Deficiency
Osler-Weber-Rendu Syndrome
Osteochondrodysplasias
Osteogenesis Imperfecta (OI)
Osteopetrosis
Otofaciocervical Syndrome
Ovarian Cancer
Ovarian dysfunction
Ovarioleukodystrophy
Oxidative Phosphorylation (OXPHOS) Deficiency
PTEN associated Macrocephaly/Autism Syndrome
PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome
PTEN-related Disorders
PURA Syndrome
Pachyonychia Congenita type 1 (PC1)
Pachyonychia Congenita type 2 (PC2)
Pallister Hall syndrome (PHS)
Palmoplantar Keratoderma
Palmoplantar Keratoderma with SNHL
Pancreatic Cancer
Papillon-Lefevre Syndrome
Paraganglioma
Paramyotonia Congenita
Parathyroid Carcinoma
Parkes Weber syndrome
Parkinson Disease
Parkinsonism
Paroxysmal Extreme Pain Disorder (PEPD)
Paroxysmal dyskinesia
Patent Ductus Arteriosus
Patent Foramen Ovale
Pearson Syndrome
Pediatric Motor Neuron Disease
Peeling Skin Syndrome (PSS)
Pendred Syndrome
Periodic paralysis
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease (PCWH)
Periventricular Nodular Heterotopia
Permanent Neonatal Diabetes (PND)
Peroxisomal Biogenesis Disorders
Peroxisomal Disorders
Perrault Syndrome
Perrault Syndrome 4 (PRLTS4)
Peter’s Anomaly
Peutz-Jeghers Syndrome
Pfeiffer Syndrome
Phenylalanine hydroxylase deficiency
Phenylketonuria
Pheochromocytoma
Piebaldism
Pitt Hopkins Syndrome
Polycystic Kidney Disease
Polycystic Liver Disease
Polymicrogyria
Pompe Disease
Pontocerebellar Hypoplasia (PCH)
Postnatal respiratory distress
Potassium-aggrevated myotonia
Prader-Willi syndrome (PWS)
Premature Ovarian Failure (FMR1-Associated)
Premature Ovarian Failure (POF)
Prenatal Cornelia de Lange Syndrome (CdLS)
Primary AR microcephaly
Primary Aldosteronism
Primary Ciliary Dyskinesia
Primary Coenzyme Q10 Deficiency
Primary Familial Brain Calcification (PFBC)
Primary Hyperoxaluria
Primary Hyperoxaluria Type I
Primary Hyperoxaluria Type II
Primary Hyperoxaluria Type III
Primary/Systemic Carnitine Deficiency
Prion Disease
Progressive External Ophthalmoplegia
Progressive Familial Intrahepatic Cholestasis (PFIC)
Progressive Familial Intrahepatic Cholestasis-2 (PFIC2)
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Progressive Myoclonic Epilepsy
Progressive Supranuclear Palsy (PSP)
Progressive Symmetric Erythrokeratoderma (PSEK)
Prolidase Deficiency
Propionic Acidaemia
Propionic Acidemia
Prostate Cancer
Proteus Syndrome/Proteus-like Syndrome
Proximal Myotonic Myopathy (PROMM)
Pseudoachondroplasia (PSACH)
Pulmonary Arterial Hypertension (PAH)
Pulmonary Stenosis
Pulmonary alveolar proteinosis (PAP)
Purine Nucleoside Phosphorylase Deficiency
Pyridoxine Dependent Seizures
Pyridoxine-Refractory Sideroblastic Anemia
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Deficiency
Pyruvate Dehydrogenase E1-Alpha Deficiency
Pyruvate Dehydrogenase E1-Beta Deficiency
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
Raine syndrome
Refsum Disease
Renal Cancer
Renal Hypouricemia
Renal tubular acidosis with deafness
Renal-Coloboma Syndrome / Papillorenal Syndrome
Restrictive Dermopathy
Reticular Dysgenesis
Retinitis Punctata Albescens
Rett syndrome
Rhizomelic chondrodysplasia punctata (RCDP)
Ricker Syndrome
Rieger Syndrome
Riley Day Syndrome
Rippling muscle disease
Robert<span>'</span>s syndrome
Robinow Syndrome
Rosenberg-Chutorian Syndrome
Rothmund-Thomson/RAPADILINO syndrome
Rubinstein-Taybi syndrome (RSTS)
SATB2-associated Syndrome
SCN2A-related Disorders
STXBP1 Encephalopathy with Epilepsy
Salla Disease
Sandhoff Disease
Sanfilippo Syndrome A
Sanfilippo Syndrome C
Saposin A Deficiency
Saposin B Deficiency
Saposin C Deficiency
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)
Schopf-Schulz-Passarge Syndrome (SSPS)
Schwannomatosis
Seckel syndrome
Senior-Loken Syndrome
Sensorineural Hearing Loss (SNHL)
Septo-Optic Dysplasia
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)
Severe Combined Immune Deficiency (SCID)
Severe Congenital Neutropenia
Short QT Syndrome (SQTS)
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Short-Rib Thoracic Dysplasia (SRTD)
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
Shprintzen-Goldberg syndrome
Shwachman-Diamond Syndrome (SDS)
Sialidosis
Sideroblastic Anemia
Sideroblastic Anemia with Spinocerebellar Ataxia
Simpson-Golabi-Behmel Syndrome (SGBS)
Single Ventricle
Sinoatrial Node Dysfunction and Deafness (SANDD)
Situs Inversus
Sjogren Larsson Syndrome (SLS)
Skeletal Dysplasia
Small Fiber Neuropathy (SFN)
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome (SMS)
Sotos Syndrome
Spastic Ataxia
Spastic Paraplegia 28 (SPG28)
Spastic Paraplegia 4 (SPG4)
Spastic Paraplegia 43 (SPG43)
Spastic Paraplegia 54 (SPG54)
Spastic Paraplegia 74 (SPG74)
Spastic paraplegia
Spinal Muscular Atrophy
Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
Spinal Muscular Atrophy with lower extremity predominance
Spinal and Bulbar Muscular Atrophy (SBMA)
Spinocerebellar Ataxia
Spinocerebellar Ataxia type 1 (SCA1)
Spinocerebellar Ataxia type 2 (SCA2)
Spinocerebellar Ataxia type 3 (SCA3)
Spinocerebellar Ataxia type 6 (SCA6)
Spinocerebellar Ataxia type 7 (SCA7)
Spinocerebellar Ataxia type 8 (SCA8)
Spinocerebellar Degeneration
Split Hand - Split Foot Malformation
Spondylocostal dysostosis
Spondyloepiphyseal dysplasia spectrum disorders
Stargardt Disease
Steinert Disease
Stickler syndrome
Sudden Cardiac Arrest
Sudden Unexplained Death
Superficial Epidermolytic Ichthyosis
Supravalvular Aortic Stenosis
Surfactant deficiency
Surfactant metabolism dysfunction
Susceptibility to Cutaneous Malignant Melanoma
Syndromic Micropthalmia Type 3
Syntelencephaly
TNF Receptor-Associated Periodic Syndrome
Tay-Sachs Disease
Tetralogy of Fallot
Thanatophoric Dysplasia (TD)
Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)
Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
Thrombocytopenioa with Absent Radii (TAR) syndrome and non-syndromic abnormalities
Thyroid Cancer
Tietz Albinism-Deafness Syndrome
Torsion dystonia
Total Anomalous Pulmonary Venous Return
Townes-Brocks Syndrome
Transposition of the Great Arteries
Transthyretin Amyloidosis
Treacher Collins Syndrome (TCS)
Tremors
Triple-A Syndrome
Tuberous Sclerosis Complex (TSC)
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type I
Tyrosinemia Type II
Tyrosinemia Type III
Ullrich CMD/Bethlem Myopathy
Ullrich Congenital Muscular Dystrophy
Ulnar-mammary syndrome
Uncomplicated Hereditary Spastic Paraplegias
Uniparental Disomy
Unspecified Hearing Loss
Unverricht-Lundborg Disease (Baltic Myoclonus)
Urea Cycle Disorders
Usher Syndrome
Usher Syndrome Type 1/ DFNB12
Usher Syndrome Type 1J/ DFNB48
Usher Syndrome Type 3A/ Retinitis Pigmentosa
Usher Type 1C / DFNA18
Usher Type 1G
Usher Type 2A
Usher Type 2D / DFNB31
Usher type 2C
Vascular Ehlers-Danlos syndrome
Velocardiofacial syndrome
Ventricular Septal Defect
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Vitamin D-dependent rickets
Vitamin K-dependent Coagulation Factor Deficiency
Vohwinkel syndrome
Von Hippel-Lindau syndrome
Vorner syndrome
Waardenburg Syndrome
Walker–Warburg Syndrome
Warburg Micro Syndrome
Weissenbach-Zweymuller syndrome
Wermer syndrome
West Syndrome
White Sponge Nevus
Wieacker-Wolff Syndrome
Williams-Beuren syndrome
Wilson Disease
Wiskott-Aldrich syndrome
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
X-linked Erythropoietic Protoporphyria
X-linked Myotubular Myopathy
X-linked adrenoleukodystrophy
Xanthinuria
Xia-Gibbs Syndrome
exudative vitreoretinopathy
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Genes
A2ML1
AAAS
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ABCA1
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ADGRG1
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AOC1
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ARHGAP11B
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ARMC10
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ARV1
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ATP6AP1
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ATP6V1A
ATP6V1B1
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ATP6V1E1
ATP7A
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ATP8A2
ATP8B1
ATPAF1
ATPAF2
ATPAF2 (ATP12)
ATPIF1
ATR
ATRIP
ATRN
ATRX
ATXN1
ATXN10
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ATXN7
ATXN8
AUH
AURKAIP1
AURKC
AUTS2
AVP
AVPR2
AXIN2
AXL
B3GALNT2
B3GALT6
B3GALTL
B3GALTN2
B3GAT3
B3GLCT
B3GNT2
B3GNT8
B4GALNT1
B4GALT1
B4GALT7
B4GAT1
B9D1
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BAAT
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BAD
BAG3
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BAP1
BARD1
BAZ1A
BAZ1B
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BBIP1
BBOX1
BBS1
BBS10
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BLANK
BLK
BLM
BLNK
BLOC1S1
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BLVRA
BMP1
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BNC2
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BNIP3L
BOD1
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BTK
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BUB1
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BVES
C10orf10
C10orf11
C10orf2
C11orf70
C11orf73
C11orf95
C12orf10
C12orf4
C12orf57
C12orf65
C14orf159
C14orf2
C150rf41
C15orf40
C15orf48
C15orf61
C16orf72
C17orf89
C19orf12
C19orf52
C19orf66
C19orf70
C1GALT1C1
C1QA
C1QB
C1QBP
C1QC
C1QTNF5
C1S
C20orf24
C20orf7
C21orf2
C21orf33
C21orf59
C21orf59 [CFAP298]
C2CD3
C2orf47
C2orf69
C2orf71
C3
C3orf33
C4BPA
C4BPB
C4orf26
C5orf42
C6orf136
C6orf203
C6orf25
C6orf57
C7orf55
C8B
C8orf37
C8orf38
C8orf82
C9orf72
CA12
CA2
CA4
CA5A
CA5B
CA8
CABIN1
CABP2
CABP4
CACHD1
CACNA1A
CACNA1B
CACNA1C
CACNA1D
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CACNA1F
CACNA1G
CACNA1H
CACNA1S
CACNA2D1
CACNA2D2
CACNA2D3
CACNA2D4
CACNB2
CACNB4
CACNG2
CAD
CADM1
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CALCR
CALM1
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CALM3
CALR
CALR3
CAMK2A
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CAMK4
CAMKMT
CAMSAP3
CAMTA1
CAMTA2
CANT1
CAPN1
CAPN10
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CAPN3
CAPN5
CAPN6
CAPZB
CARD11
CARD14
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CARKD
CARMIL2
CARS
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CBS
CBX2
CC2D1A
CC2D2A
CCAR2
CCBE1
CCBL2
CCDC103
CCDC109B
CCDC114
CCDC115
CCDC127
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CCDC141
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CCDC174
CCDC22
CCDC23
CCDC28B
CCDC39
CCDC40
CCDC47
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CCDC65
CCDC78
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CDON
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CDT1
CEACAM16
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CEMIP
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CENPJ
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CEP104
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CEP135
CEP152
CEP164
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CEP55
CEP57
CEP63
CEP78
CEP83
CEP85L
CEP89
CEP97
CERKL
CERS1
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CETP
CFAP298
CFAP43
CFAP44
CFAP45
CFAP53
CFAP57
CFAP69
CFB
CFC1
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CFL2
CFP
CFTR
CHAF1B
CHAMP1
CHAT
CHCHD1
CHCHD10
CHCHD2
CHCHD3
CHCHD4
CHCHD5
CHCHD6
CHCHD7
CHD1
CHD1L
CHD2
CHD3
CHD4
CHD6
CHD7
CHD8
CHDH
CHEK2
CHI3L1
CHKB
CHL1
CHM
CHMP1A
CHMP2B
CHMP4B
CHN1
CHPT1
CHRDL1
CHRM2
CHRM3
CHRNA1
CHRNA2
CHRNA4
CHRNA7
CHRNB1
CHRNB2
CHRND
CHRNE
CHRNG
CHST14
CHST3
CHST6
CHST8
CHSY1
CHUK
CIAO1
CIB2
CIC
CIDEC
CISD1
CISD2
CISD3
CIT
CITED2
CIZ1
CKAP2L
CKAP4
CKAP5
CKB
CKM
CKMT2
CLASP2
CLCF1
CLCN1
CLCN2
CLCN4
CLCN5
CLCN7
CLCNKA
CLCNKB
CLDN1
CLDN10
CLDN14
CLDN16
CLDN19
CLDN3
CLEC16A
CLEC7A
CLIC2
CLIC4
CLIC5
CLIP1
CLIP2
CLK2
CLMP
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLPP
CLPTM1
CLPTM1L
CLPX
CLRN1
CLTC
CLTCL1
CLUAP1
CLYBL
CMC1
CMC2
CMC4
CMIP
CMPK2
CNBP
CNGA1
CNGA3
CNGB1
CNGB3
CNKSR1
CNKSR2
CNNM2
CNNM4
CNOT1
CNOT2
CNOT3
CNPY3
CNTN1
CNTN2
CNTN3
CNTN4
CNTN6
CNTNAP1
CNTNAP2
CNTNAP3
CNTNAP5
COA1
COA3
COA4
COA5
COA5 (C2ORF64)
COA6
COA7
COASY
COCH
COG1
COG2
COG4
COG5
COG6
COG7
COG8
COH1 (VPS13B)
COL10A1
COL11A1
COL11A2
COL12A1
COL13A1
COL14A1
COL17A1
COL18A1
COL19A1
COL1A1
COL1A2
COL25A1
COL27A1
COL28A1
COL2A1
COL3A1
COL4A1
COL4A2
COL4A3
COL4A3BP
COL4A4
COL4A5
COL4A6
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
COL7A1
COL8A2
COL9A1
COL9A2
COL9A3
COLEC10
COLEC11
COLGALT1
COLQ
COMP
COMT
COMTD1
COPA
COPB2
COQ10A
COQ10B
COQ2
COQ3
COQ4
COQ5
COQ6
COQ7
COQ8A
COQ8B
COQ9
CORO1A
COX10
COX11
COX14
COX14 (C12ORF62)
COX15
COX16
COX17
COX18
COX19
COX20
COX20 (FAM36A)
COX4I1
COX4I2
COX5A
COX5B
COX6A1
COX6A2
COX6B1
COX6B2
COX6C
COX7A1
COX7A2
COX7A2L
COX7B
COX7B2
COX7C
COX8A
COX8C
CP
CPA1
CPA6
CPAMD8
CPE
CPLANE1
CPLX1
CPNE7
CPOX
CPQ
CPS1
CPSF4
CPT1A
CPT1B
CPT1C
CPT2
CR2
CRADD
CRAT
CRB1
CRB2
CRBN
CREB3L1
CREBBP
CRELD1
CRH
CRHBP
CRHR1
CRIPT
CRKL
CRLF1
CRLS1
CROT
CRTAP
CRX
CRY1
CRY2
CRYAA
CRYAB
CRYBA1
CRYBA2
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGA
CRYGB
CRYGC
CRYGD
CRYGS
CRYM
CRYZ
CS
CSDE1
CSF1R
CSF2RA
CSF2RB
CSF3R
CSGALNACT1
CSMD1
CSNK1G1
CSNK2A1
CSNK2A2
CSNK2B
CSPP1
CSRP3
CSTA
CSTB
CTBP1
CTC1
CTCF
CTDP1
CTF1
CTH
CTLA4
CTNNA1
CTNNA2
CTNNA3
CTNNB1
CTNND1
CTNND2
CTNS
CTPS2
CTR9
CTRC
CTSA
CTSB
CTSC
CTSD
CTSF
CTSH
CTSK
CTTNBP2
CTU2
CUBN
CUL3
CUL4B
CUL5
CUL7
CUX1
CUX2
CWC27
CWF19L1
CXCL12
CXCR2
CXCR4
CXORF56
CYB561
CYB5A
CYB5B
CYB5R1
CYB5R2
CYB5R3
CYBA
CYBB
CYC1
CYCS
CYFIP1
CYFIP2
CYLD
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP24A1
CYP26B1
CYP26C1
CYP27A1
CYP27B1
CYP2C9
CYP2R1
CYP2U1
CYP4F22
CYP4V2
CYP51A1
CYP7A1
CYP7B1
CYR61
D2HGDH
DAB1
DACT1
DAD1
DAG1
DAK
DAO
DAOA
DAP3
DAPK1
DARS
DARS2
DBH
DBI
DBR1
DBT
DBX2
DCAF17
DCAF8
DCAKD
DCC
DCDC1
DCDC2
DCHS1
DCLRE1B
DCLRE1C
DCLRE1C (ARTEMIS)
DCN
DCPS
DCT
DCTN1
DCTN4
DCX
DDAH1
DDB1
DDB2
DDC
DDHD1
DDHD2
DDOST
DDR2
DDRGK1
DDX10
DDX11
DDX20
DDX23
DDX24
DDX25
DDX28
DDX3X
DDX41
DDX53
DDX59
DDX6
DEAF1
DECR1
DEGS1
DENND5A
DENR
DEPDC5
DES
DFNA5
DFNB31
DFNB31 (WHRN)
DFNB59
DGAT1
DGCR14
DGCR2
DGCR6
DGCR8
DGKD
DGKE
DGKK
DGKQ
DGKZ
DGUOK
DHCR24
DHCR7
DHDDS
DHFR
DHH
DHODH
DHPS
DHRS1
DHRS4
DHRS7B
DHRSX
DHTKD1
DHX16
DHX30
DHX32
DHX35
DHX37
DHX38
DIABLO
DIAPH1
DIAPH3
DICER1
DIP2B
DIP2C
DIS3L2
DISC1
DISP1
DKC1
DKK1
DLAT
DLC1
DLD
DLG1
DLG2
DLG3
DLG4
DLG5
DLGAP2
DLGAP4
DLL1
DLL3
DLL4
DLST
DLX3
DLX5
DLX6
DMBX1
DMD
DMGDH
DMP1
DMPK
DMRT1
DMXL1
DMXL2
DNA2
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAAF5 [HEATR2]
DNAH1
DNAH10
DNAH11
DNAH14
DNAH5
DNAH6
DNAH7
DNAH8
DNAH9
DNAI1
DNAI2
DNAJA3
DNAJB11
DNAJB13
DNAJB2
DNAJB6
DNAJC11
DNAJC12
DNAJC13
DNAJC15
DNAJC17
DNAJC19
DNAJC21
DNAJC28
DNAJC3
DNAJC30
DNAJC4
DNAJC5
DNAJC6
DNAL1
DNAL4
DNASE1
DNASE1L3
DNASE2
DNM1
DNM1L
DNM2
DNMBP
DNMT1
DNMT3A
DNMT3B
DOCK3
DOCK6
DOCK7
DOCK8
DOK7
DOLK
DONSON
DOPEY2
DOT1L
DPAGT1
DPCD
DPF2
DPH1
DPM1
DPM2
DPM3
DPP6
DPY19L2
DPYD
DPYS
DPYSL5
DRAM2
DRC1
DRD2
DRD3
DRD5
DROSHA
DRP2
DSC2
DSC3
DSCAM
DSCAML1
DSE
DSG1
DSG2
DSG3
DSG4
DSP
DSPP
DST
DSTYK
DTHD1
DTNA
DTNB
DTNBP1
DTYMK
DUOX1
DUOX2
DUOXA2
DUS2
DUSP22
DUSP26
DUSP6
DUT
DVL1
DVL3
DYM
DYNC1H1
DYNC1I1
DYNC1I2
DYNC2H1
DYNC2LI1
DYRK1A
DYRK1B
DYRK2
DYSF
DYX1C1
DYX1C1 [DNAAF4]
DZIP1L
EARS2
EBF3
EBP
ECE1
ECEL1
ECH1
ECHDC1
ECHDC2
ECHDC3
ECHS1
ECI1
ECI2
ECM1
ECSIT
EDA
EDA1
EDA2R
EDAR
EDARADD
EDC3
EDN1
EDN3
EDNRB
EED
EEF1A2
EEF1B2
EEF2
EEFSEC
EFCAB5
EFEMP1
EFEMP2
EFHB
EFHC1
EFHC2
EFHD1
EFL1
EFNB1
EFR3A
EFTUD1
EFTUD2
EGF
EGFR
EGLN1
EGLN2
EGR2
EHD3
EHHADH
EHMT1
EIF2AK1
EIF2AK2
EIF2AK3
EIF2AK4
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
EIF3F
EIF4A3
EIF4E
EIF4ENIF1
EIF4G1
EIF5AL1
ELAC2
ELANE
ELANE (ELA2)
ELF2
ELFN1
ELK1
ELMO2
ELMOD2
ELMOD3
ELN
ELOA
ELOF1
ELOVL1
ELOVL4
ELOVL5
ELP1
ELP2
ELP4
EMC1
EMC2
EMD
EME2
EMG1
EML1
EMP2
EMX2
ENAH
ENAM
ENDOG
ENG
ENO3
ENPP1
ENTPD1
EOGT
EOMES
EP300
EP400
EPAS1
EPB41
EPB41L1
EPB41L4A
EPB42
EPC2
EPCAM
EPG5
EPHA2
EPHA3
EPHA4
EPHA5
EPHA7
EPHB2
EPHB4
EPHX1
EPHX2
EPM2A
EPO
EPOR
EPRS
EPS8
EPT1
ERAL1
ERAP1
ERAP2
ERBB2
ERBB2IP
ERBB3
ERBB4
ERBIN
ERC1
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC6L2
ERCC8
ERF
ERLIN1
ERLIN2
ERMARD
ESCO2
ESPN
ESR1
ESR2
ESRRB
ESRRG
ETF1
ETFA
ETFB
ETFDH
ETHE1
ETV4
ETV5
ETV6
EVC
EVC2
EWSR1
EXO5
EXOC4
EXOC6B
EXOC7
EXOC8
EXOG
EXOSC2
EXOSC3
EXOSC5
EXOSC8
EXOSC9
EXPH5
EXT1
EXT2
EXTL3
EYA1
EYA4
EYS
EZH1
EZH2
EZR
F10
F11
F12
F13A1
F13B
F2
F5
F7
F8
F9
FA2H
FAAH
FAAH2
FABP1
FABP2
FABP3
FABP7
FADD
FAH
FAHD1
FAHD2A
FAM111A
FAM111B
FAM120A
FAM126A
FAM134B
FAM136A
FAM149B1
FAM151A
FAM161A
FAM162A
FAM175A
FAM177A1
FAM179B
FAM183A
FAM185A
FAM189A2
FAM195A
FAM20A
FAM20C
FAM210A
FAM210B
FAM213A
FAM222A
FAM3C
FAM46A
FAM50A
FAM58A
FAM65B
FAM83H
FAN1
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAR1
FARS2
FARSA
FARSB
FAS
FAS (TNFRSF6)
FASLG
FASN
FASTK
FASTKD1
FASTKD2
FASTKD3
FASTKD5
FAT1
FAT2
FAT3
FAT4
FBLN1
FBLN5
FBN1
FBN2
FBN3
FBP1
FBXL3
FBXL4
FBXO11
FBXO18
FBXO28
FBXO31
FBXO38
FBXO7
FBXW11
FBXW4
FBXW7
FCGR2B
FCHO1
FCN3
FDFT1
FDPS
FDX1
FDX1L
FDX2
FDXR
FECH
FER
FERMT1
FERMT3
FEZF1
FEZF2
FGA
FGB
FGD1
FGD4
FGF10
FGF12
FGF13
FGF14
FGF16
FGF17
FGF20
FGF23
FGF3
FGF5
FGF8
FGF9
FGFR1
FGFR2
FGFR3
FGFRL1
FGG
FH
FHIT
FHL1
FHL2
FHOD3
FIBP
FIG4
FIGLA
FIS1
FITM2
FKBP10
FKBP14
FKBP8
FKBPL
FKRP
FKTN
FLAD1
FLCN
FLG
FLG2
FLI1
FLII
FLNA
FLNB
FLNC
FLRT1
FLRT3
FLT3
FLT4
FLVCR1
FLVCR2
FMN1
FMN2
FMO3
FMR1
FN1
FOLR1
FOS
FOXA2
FOXA3
FOXC1
FOXC2
FOXD1
FOXD3
FOXE1
FOXE3
FOXF1
FOXF2
FOXG1
FOXH1
FOXI1
FOXI3
FOXL2
FOXN1
FOXP1
FOXP2
FOXP3
FOXRED1
FPGS
FRAS1
FREM1
FREM2
FRG1
FRMD4A
FRMD7
FRMPD4
FRRS1L
FRY
FSCN2
FSHB
FSHR
FT140
FTCD
FTH1
FTKN
FTL
FTMT
FTO
FTSJ1
FTSJ2
FUCA1
FUK
FUNDC1
FUNDC2
FUS
FUT8
FUZ
FXN
FXYD2
FYB
FYB1
FYCO1
FZD10
FZD2
FZD4
FZD5
FZD9
FZR1
G6PC
G6PC2
G6PC3
G6PD
GAA
GABBR2
GABRA1
GABRA2
GABRA3
GABRA5
GABRA6
GABRB1
GABRB2
GABRB3
GABRD
GABRE
GABRG2
GABRG3
GABRQ
GABRR1
GABRR3
GAD1
GAD2
GADD45GIP1
GAL
GAL3ST3
GALC
GALE
GALK1
GALM
GALNS
GALNT11
GALNT12
GALNT14
GALNT2
GALNT3
GALNTL5
GALT
GAMT
GAN
GANAB
GAP43
GAPDH
GARS
GAS1
GAS7
GAS8
GATA1
GATA2
GATA3
GATA4
GATA5
GATA6
GATAD1
GATAD2B
GATB
GATC
GATM
GBA
GBA2
GBAS
GBE1
GCAT
GCDH
GCH1
GCK
GCKR
GCLC
GCM2
GCNT2
GCNT3
GCSH
GDAP1
GDAP2
GDF1
GDF2
GDF3
GDF5
GDF6
GDF9
GDI1
GDNF
GEMIN4
GEMIN5
GFAP
GFAT1
GFER
GFI1
GFI1B
GFM1
GFM1 (EFG1)
GFM2
GFPT1
GGCX
GGT1
GH1
GHITM
GHR
GHRHR
GHRL
GHSR
GIF
GIGYF2
GIMAP5
GINS1
GIPC3
GIT1
GJA1
GJA3
GJA5
GJA8
GJB1
GJB2
GJB2 (Cx26)
GJB2(CX26)
GJB3
GJB3 (Cx31)
GJB3(CX31)
GJB4
GJB4 (Cx30.3)
GJB6
GJB6 (Cx30)
GJB6(CX30)
GJC1
GJC2
GJC3
GJE1
GK
GLA
GLB1
GLDC
GLDN
GLE1
GLG1
GLI1
GLI2
GLI3
GLIS2
GLIS3
GLMN
GLOD4
GLRA1
GLRA2
GLRA4
GLRB
GLRX2
GLRX5
GLS
GLS2
GLTSCR1
GLUD1
GLUL
GLYAT
GLYCTK
GM2A
GMNN
GMPPA
GMPPB
GMPS
GNA11
GNAI1
GNAI3
GNAL
GNAO1
GNAQ
GNAS
GNAT1
GNAT2
GNB1
GNB1L
GNB2
GNB3
GNB4
GNB5
GNE
GNG5
GNMT
GNPAT
GNPTAB
GNPTG
GNRH1
GNRHR
GNS
GOLGA2
GOLPH3
GON4L
GORAB
GOSR2
GOT2
GP1BA
GP1BB
GP6
GP9
GPAA1
GPAM
GPBP1
GPC3
GPC4
GPC6
GPD1
GPD1L
GPD2
GPHN
GPI
GPIHBP1
GPKOW
GPM6A
GPR101
GPR112
GPR12
GPR125
GPR143
GPR161
GPR179
GPR34
GPR35
GPR37
GPR56
GPR68
GPR85
GPR88
GPR98
GPRASP2
GPSM2
GPT2
GPX1
GPX4
GRB10
GREM1
GREM2
GRHL2
GRHL3
GRHPR
GRIA1
GRIA2
GRIA3
GRIA4
GRID1
GRID2
GRIK2
GRIK3
GRIK5
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRIP1
GRK1
GRM1
GRM5
GRM6
GRM7
GRM8
GRN
GRPEL1
GRPEL2
GRPR
GRSF1
GRXCR1
GRXCR2
GSC
GSKIP
GSN
GSPT2
GSR
GSS
GSTK1
GSTO1
GSTP1
GSTZ1
GSX2
GTDC2
GTF2E2
GTF2H5
GTF2I
GTF2IRD1
GTPBP10
GTPBP2
GTPBP3
GTPBP6
GUCA1A
GUCA1B
GUCY1A3
GUCY2C
GUCY2D
GUF1
GUK1
GUSB
GYG1
GYG2
GYPC
GYS1
GYS2
H3F3A
H3F3B
H6PD
HAAO
HABP2
HACD1
HACE1
HADH
HADHA
HADHB
HAGH
HAL
HAMP
HAND1
HAND2
HAO2
HAP1
HARS
HARS2
HAX1
HBA1
HBA2
HBB
HBD
HBE1
HBS1L
HCCS
HCFC1
HCN1
HCN2
HCN4
HCRT
HDAC1
HDAC4
HDAC6
HDAC8
HDHD3
HDLBP
HDX
HEATR2
HEBP1
HECW2
HELLS
HELZ
HELZ2
HEMK1
HEPACAM
HEPHL1
HERC1
HERC2
HES7
HESX1
HEXA
HEXB
HEY1
HFE
HFE2
HGD
HGF
HGSNAT
HHAT
HIBADH
HIBCH
HIC1
HIGD1A
HIGD2A
HIKESHI
HINT1
HINT2
HINT3
HIP1
HIRA
HIST1H1E
HIST1H4C
HIST3H3
HIVEP2
HK1
HK2
HLA-DPB1
HLCS
HLRCC
HMBS
HMCN1
HMGA2
HMGB1
HMGB3
HMGCL
HMGCS2
HMHA1
HMOX1
HMX1
HNF1A
HNF1B
HNF4A
HNMT
HNRNPA1
HNRNPA2B1
HNRNPD
HNRNPDL
HNRNPH1
HNRNPH2
HNRNPK
HNRNPL
HNRNPR
HNRNPU
HOGA1
HOMER2
HOXA1
HOXA10
HOXA11
HOXA13
HOXA2
HOXA4
HOXB1
HOXB13
HOXB6
HOXC13
HOXD13
HPCA
HPD
HPDL
HPGD
HPRT1
HPS1
HPS3
HPS4
HPS5
HPS6
HPSE2
HR
HRAS
HRG
HRSP12
HS6ST1
HSBP1
HSCB
HSD11B1
HSD11B2
HSD17B10
HSD17B3
HSD17B4
HSD17B8
HSD3B2
HSD3B7
HSDL1
HSDL2
HSF4
HSPA1L
HSPA9
HSPB1
HSPB11
HSPB3
HSPB7
HSPB8
HSPD1
HSPE1
HSPG2
HTATIP2
HTR1A
HTR2A
HTR3A
HTRA1
HTRA2
HUWE1
HYAL1
HYAL2
HYDIN
HYLS1
HYOU1
IARS
IARS2
IBA57
ICE2
ICK
ICOS
ICT1
IDE
IDH1
IDH2
IDH3A
IDH3B
IDH3G
IDI1
IDS
IDUA
IER3IP1
IFI27
IFIH1
IFITM5
IFNAR2
IFNG
IFNGR1
IFNGR2
IFRD1
IFT122
IFT140
IFT172
IFT27
IFT43
IFT52
IFT57
IFT74
IFT80
IFT81
IFT88
IGBP1
IGF1
IGF1R
IGF2
IGFALS
IGFBP4
IGFBP7
IGHMBP2
IGLL1
IGSF1
IGSF9
IHH
IKBKAP
IKBKB
IKBKG
IKBKG (NEMO)
IKZF1
IL10
IL10RA
IL10RB
IL11RA
IL12A
IL12B
IL12RB1
IL12RB2
IL17A
IL17F
IL17RA
IL17RC
IL17RD
IL1RAPL1
IL1RN
IL20RA
IL21
IL21R
IL23R
IL27RA
IL2RA
IL2RG
IL6
IL7R
ILDR1
ILF2
ILK
IMMP1L
IMMP2L
IMMT
IMPA1
IMPAD1
IMPDH1
IMPDH2
IMPG1
IMPG2
INA
INAVA
INF2
INO80
INPP4A
INPP5E
INPP5K
INPPL1
INS
INSL3
INSR
INTS1
INTS6
INTS8
INTU
INVS
IPO13
IQCB1
IQGAP3
IQSEC1
IQSEC2
IRAK4
IREB2
IRF2BP2
IRF2BPL
IRF3
IRF4
IRF6
IRF7
IRF8
IRF9
IRX4
IRX5
ISCA1
ISCA2
ISCU
ISG15
ISOC2
ISPD
ITCH
ITGA2
ITGA2B
ITGA3
ITGA4
ITGA5
ITGA6
ITGA7
ITGA8
ITGA9
ITGB1BP2
ITGB2
ITGB3
ITGB4
ITGB6
ITK
ITM2B
ITPA
ITPR1
ITPR3
ITSN1
ITSN2
IVD
IYD
JAG1
JAGN1
JAK2
JAK3
JAKMIP1
JAM3
JARID2
JMJD1C
JPH1
JPH2
JUP
KAL1
KANK1
KANK2
KANK4
KANSL1
KARS
KAT2B
KAT6A
KAT6B
KAT8
KATNAL2
KATNB1
KBTBD13
KCNA1
KCNA2
KCNA4
KCNA5
KCNAB1
KCNAB2
KCNB1
KCNB2
KCNC1
KCNC3
KCNC4
KCND2
KCND3
KCNE1
KCNE1L(KCNE5)
KCNE2
KCNE3
KCNE5
KCNG1
KCNH1
KCNH2
KCNH4
KCNH5
KCNH7
KCNJ1
KCNJ10
KCNJ11
KCNJ13
KCNJ16
KCNJ18
KCNJ2
KCNJ5
KCNJ6
KCNJ8
KCNK3
KCNK4
KCNK9
KCNMA1
KCNN3
KCNN4
KCNQ1
KCNQ2
KCNQ3
KCNQ4
KCNQ5
KCNT1
KCNT2
KCNV2
KCTD1
KCTD10
KCTD13
KCTD17
KCTD3
KCTD7
KDELC2
KDF1
KDM1A
KDM2B
KDM3A
KDM3B
KDM5A
KDM5B
KDM5C
KDM6A
KDM6B
KDSR
KERA
KIAA0100
KIAA0141
KIAA0195
KIAA0196
KIAA0226
KIAA0391
KIAA0556
KIAA0586
KIAA0753
KIAA1033
KIAA1109
KIAA1161
KIAA1210
KIAA1279
KIAA1279 (KIF1BP)
KIAA1549
KIAA1715
KIAA2022 (NEXMIF)
KIDINS220
KIF11
KIF12
KIF14
KIF17
KIF1A
KIF1B
KIF1BP
KIF1C
KIF21A
KIF21B
KIF22
KIF23
KIF26B
KIF2A
KIF4A
KIF5A
KIF5C
KIF7
KIRREL3
KISS1
KISS1R
KIT
KITLG
KIZ
KL
KLB
KLC2
KLC4
KLF1
KLF10
KLF11
KLF13
KLF4
KLF7
KLF8
KLHL1
KLHL10
KLHL15
KLHL24
KLHL3
KLHL40
KLHL41
KLHL7
KLHL9
KLK4
KLKB1
KLLN
KLRC4
KMO
KMT2A (MLL)
KMT2B
KMT2C
KMT2D
KMT2E
KMT5B
KNL1
KPNA7
KPTN
KRAS
KREMEN1
KRIT1
KRT1
KRT10
KRT12
KRT13
KRT14
KRT16
KRT17
KRT2
KRT25
KRT3
KRT4
KRT5
KRT6A
KRT6B
KRT6C
KRT71
KRT74
KRT8
KRT81
KRT83
KRT85
KRT86
KRT9
KSR2
KY
KYNU
L1CAM
L2HGDH
LACE1
LACTB
LACTB2
LAGE3
LAMA1
LAMA2
LAMA3
LAMA4
LAMA5
LAMB1
LAMB2
LAMB3
LAMC1
LAMC2
LAMC3
LAMP2
LAMTOR2
LAP3
LARGE
LARGE1
LARP7
LARS
LARS2
LAS1L
LAT
LBR
LBX1
LCA5
LCAT
LCK
LCT
LDB3
LDHA
LDHAL6B
LDHB
LDHD
LDLR
LDLRAP1
LEF1
LEFTY2
LEMD2
LEMD3
LEO1
LEP
LEPR
LEPRE1
LEPRE1(P3H1)
LEPREL1
LETM1
LETM2
LETMD1
LFNG
LGI1
LGI4
LGR4
LHB
LHCGR
LHFPL5
LHL40
LHX1
LHX3
LHX4
LIAS
LIFR
LIG1
LIG4
LIM2
LIMK1
LIMS2
LIN7A
LIN7B
LINGO1
LINGO2
LINS
LINS1
LIPA
LIPC
LIPE
LIPH
LIPN
LIPT1
LIPT2
LITAF
LLGL1
LMAN1
LMAN2L
LMBR1
LMBRD1
LMF1
LMNA
LMNB1
LMNB2
LMOD2
LMOD3
LMX1B
LNPEP
LNPK
LONP1
LONP2
LONRF3
LOR
LOX
LOXHD1
LOXL1
LPAR6
LPIN1
LPIN2
LPIN3
LPL
LPP
LRAT
LRBA
LRFN2
LRIT3
LRMDA
LRP1
LRP2
LRP4
LRP5
LRP6
LRPAP1
LRPPRC
LRRC10
LRRC4
LRRC56
LRRC59
LRRC6
LRRC7
LRRC8A
LRRK1
LRRK2
LRRTM4
LRSAM1
LRTOMT
LSS
LTBP1
LTBP2
LTBP3
LTBP4
LTC4S
LUM
LYPLA1
LYPLAL1
LYRM1
LYRM2
LYRM4
LYRM5
LYRM7
LYRM9
LYST
LZTFL1
LZTR1
LZTS1
MAB21L1
MAB21L2
MACF1
MACROD1
MAD2L2
MADD
MAF
MAFA
MAFB
MAG
MAGED2
MAGEL2
MAGI1
MAGI2
MAGT1
MAK
MALL
MALSU1
MAMLD1
MAN1B1
MAN2B1
MANBA
MANF
MAOA
MAOB
MAP1B
MAP2
MAP2K1
MAP2K2
MAP2K3
MAP2K4
MAP3K1
MAP3K12
MAP3K15
MAP3K20
MAP3K3
MAP3K7
MAP3K8
MAP4
MAP6
MAP7D2
MAPK1
MAPK10
MAPK3
MAPK8IP3
MAPKAPK3
MAPRE2
MAPT
MARS
MARS2
MARVELD2
MASP1
MASP2
MAST1
MASTL
MAT1A
MAT2A
MATN3
MATN4
MATR3
MAVS
MAX
MBD1
MBD5
MBD6
MBL2
MBOAT7
MBTPS2
MC1R
MC2R
MC3R
MC4R
MCAT
MCCC1
MCCC2
MCEE
MCF2
MCFD2
MCHR1
MCIDAS
MCM2
MCM3AP
MCM4
MCOLN1
MCPH1
MCTP2
MCU
MCUR1
MDH1
MDH2
MDM2
MDN1
ME1
ME2
ME3
MECOM
MECP2
MECR
MED12
MED12L
MED13
MED13L
MED17
MED23
MED25
MED27
MEF2A
MEF2C
MEFV
MEGF10
MEGF8
MEIOB
MEIS2
MEN1
MEOX1
MERTK
MESP2
MET
METAP1D
METTL14
METTL15
METTL17
METTL20
METTL23
METTL5
METTL8
MFAP5
MFF
MFHAS1
MFN1
MFN2
MFRP
MFSD2A
MFSD6L
MFSD8
MGAM
MGARP
MGAT1
MGAT2
MGAT4C
MGLL
MGME1
MGP
MGST1
MGST3
MIB1
MICAL1
MICU1
MICU2
MID1
MID2
MIEF1
MIEF2
MINOS1
MIP
MIPEP
MIR184
MIR96
MITF
MKKS
MKL2
MKRN3
MKS1
MKX
MLC1
MLH1
MLH3
MLIP
MLL
MLL2
MLLT3
MLLT4
MLPH
MLX
MLXIPL
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMADHC (C2ORF25)
MME
MMGT1
MMP1
MMP13
MMP14
MMP19
MMP2
MMP20
MMP21
MMP3
MMP8
MMP9
MN1
MNX1
MOCOS
MOCS1
MOCS2
MOCS3
MOG
MOGS
MORC2
MPC1
MPC1 (BRP44L)
MPC2
MPDU1
MPDZ
MPI
MPIG6B
MPL
MPLKIP
MPP7
MPST
MPV17
MPV17L
MPV17L2
MPZ
MPZL3
MR1
MRAP
MRAP2
MRAS
MRE11
MRE11A
MRI1
MRM1
MRM2
MRPL1
MRPL10
MRPL11
MRPL12
MRPL13
MRPL14
MRPL15
MRPL16
MRPL17
MRPL18
MRPL19
MRPL2
MRPL20
MRPL21
MRPL22
MRPL23
MRPL24
MRPL27
MRPL28
MRPL3
MRPL30
MRPL32
MRPL33
MRPL34
MRPL35
MRPL36
MRPL37
MRPL38
MRPL39
MRPL4
MRPL40
MRPL41
MRPL42
MRPL43
MRPL44
MRPL45
MRPL46
MRPL47
MRPL48
MRPL49
MRPL50
MRPL51
MRPL52
MRPL53
MRPL54
MRPL55
MRPL57
MRPL9
MRPS10
MRPS11
MRPS12
MRPS14
MRPS15
MRPS16
MRPS17
MRPS18A
MRPS18B
MRPS18C
MRPS2
MRPS21
MRPS22
MRPS23
MRPS24
MRPS25
MRPS26
MRPS27
MRPS28
MRPS30
MRPS31
MRPS33
MRPS34
MRPS35
MRPS36
MRPS5
MRPS6
MRPS7
MRPS9
MRRF
MRS2
MS4A1
MSH2
MSH3
MSH6
MSL2
MSL3
MSMO1
MSN
MSRA
MSRB2
MSRB3
MST1
MSTN
MSTO1
MSX1
MSX2
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-RNR2
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TT
MT-TV
MT-TW
MT-TY
MTAP
MTCH1
MTCH2
MTCP1
MTERF1
MTERF2
MTERF3
MTERF4
MTFMT
MTFP1
MTFR1
MTFR1L
MTG1
MTG2
MTHFD1
MTHFD1L
MTHFD2
MTHFD2L
MTHFR
MTHFS
MTIF2
MTIF3
MTM1
MTMR1
MTMR14
MTMR2
MTMR8
MTMR9
MTND1
MTND5
MTND6
MTO1
MTOR
MTPAP
MTR
MTRF1
MTRF1L
MTRR
MTSS1
MTSS1L
MTTD
MTTG
MTTH
MTTI
MTTK
MTTL1
MTTL2
MTTM
MTTP
MTTQ
MTTS1
MTTS2
MTX1
MTX2
MUC5B
MUL1
MUSK
MUT
MUTYH
MVK
MXRA5
MXRA8
MY06
MYBPC1
MYBPC3
MYCBP2
MYCN
MYD88
MYEF2
MYF5
MYF6
MYH1
MYH10
MYH11
MYH14
MYH2
MYH3
MYH6
MYH7
MYH7B
MYH8
MYH9
MYL2
MYL3
MYL4
MYLK
MYLK2
MYO15A
MYO18B
MYO1A
MYO1C
MYO1E
MYO1F
MYO1H
MYO3A
MYO5A
MYO5B
MYO6
MYO7A
MYO7B
MYO9A
MYO9B
MYOC
MYOCD
MYOF
MYOM1
MYOT
MYOZ2
MYPN
MYRF
MYSM1
MYT1
MYT1L
N6AMT1
NAA10
NAA15
NACC1
NADK2
NADSYN1
NAF1
NAGA
NAGLU
NAGPA
NAGS
NALCN
NANOS1
NANS
NARS
NARS1
NARS2
NAT8L
NAV1
NAV2
NAXD
NAXE
NBAS
NBEA
NBEAL2
NBN
NCAPD2
NCAPD3
NCAPG2
NCAPH
NCDN
NCEH1
NCF1
NCF2
NCF4
NCKAP1
NCOR1
NCS1
NDE1
NDN
NDNL2
NDP
NDRG1
NDRG4
NDST1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA13
NDUFA2
NDUFA3
NDUFA4
NDUFA5
NDUFA6
NDUFA7
NDUFA8
NDUFA9
NDUFAB1
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF3 (C3ORF60)
NDUFAF4
NDUFAF4 (C6ORF66)
NDUFAF5
NDUFAF6
NDUFAF7
NDUFAF7 (C2ORF56)
NDUFAF8
NDUFB1
NDUFB10
NDUFB11
NDUFB2
NDUFB3
NDUFB4
NDUFB5
NDUFB6
NDUFB7
NDUFB8
NDUFB9
NDUFC1
NDUFC2
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS5
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NDUFV3
NEB
NEBL
NECAP1
NECTIN1
NECTIN4
NEDD4L
NEFH
NEFL
NEGR1
NEIL1
NEK1
NEK10
NEK2
NEK8
NEK9
NELFA
NEMF
NEPRO
NEU1
NEU4
NEUROD1
NEUROD2
NEUROG3
NEXMIF
NEXN
NF1
NF2
NFASC
NFAT5
NFATC3
NFE2L2
NFIA
NFIB
NFIX
NFKB1
NFKB2
NFKBIA
NFS1
NFU1
NGF
NGLY1
NGRN
NHEJ1
NHLRC1
NHLRC2
NHP2
NHS
NID1
NIF3L1
NIN
NIPA1
NIPA2
NIPAL4
NIPBL
NIPSNAP1
NIPSNAP3A
NIPSNAP3B
NIT1
NIT2
NKAIN2
NKAP
NKX2-1
NKX2-2
NKX2-5
NKX2-6
NKX2.5
NKX3-2
NKX6-2
NLGN1
NLGN2
NLGN3
NLGN4X
NLGN4Y
NLN
NLRC4
NLRP1
NLRP12
NLRP14
NLRP2
NLRP3
NLRP3 (CIAS1)
NLRX1
NME1
NME3
NME4
NME6
NME7
NME8
NMNAT1
NMNAT3
NNT
NOA1
NOBOX
NOD2
NOD2 (CARD15)
NODAL
NOG
NOL3
NONO
NOP10
NOS1AP
NOS3
NOTCH1
NOTCH2
NOTCH3
NOVA2
NOX1
NPAP1
NPAS3
NPAS4
NPC1
NPC2
NPEPPS
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NPL
NPM1
NPPA
NPR2
NPRL2
NPRL3
NPY4R
NR0B1
NR0B2
NR1H4
NR2E1
NR2E3
NR2F1
NR2F2
NR3C1
NR3C2
NR4A2
NR5A1
NRAP
NRAS
NRCAM
NRD1
NRF1
NRG1
NRGN
NRIP1
NRL
NRROS
NRTN
NRXN1
NRXN2
NRXN3
NSD1
NSD2
NSDHL
NSMCE3
NSMF
NSMF (NELF)
NSUN2
NSUN3
NSUN4
NSUN7
NT5C
NT5C2
NT5C3A
NT5DC2
NT5DC3
NT5M
NTF4
NTHL1
NTN1
NTNG1
NTNG2
NTRK1
NTRK2
NTRK3
NUBPL
NUCB2
NUDT13
NUDT19
NUDT2
NUDT5
NUDT6
NUDT8
NUDT9
NUP107
NUP133
NUP205
NUP214
NUP62
NUP88
NUP93
NUS1
NVL
NXF5
NXNL1
NXPH3
NYX
OAT
OBFC1
OBSCN
OBSL1
OCA2
OCIAD1
OCIAD2
OCLN
OCRL
ODC1
OFD1
OFD1 (CXORF5)
OGDH
OGDHL
OGT
OLFM2
OMG
ONLY)
OPA1
OPA3
OPCML
OPHN1
OPLAH
OPN1LW
OPN1SW
OPRL1
OPTC
OPTN
OR2W3
ORAI1
ORC1
ORC4
ORC6
OSBPL1A
OSBPL2
OSGEP
OSGEPL1
OSMR
OSR1
OSTM1
OTC
OTOA
OTOF
OTOG
OTOGL
OTUD4
OTUD6B
OTUD7A
OTX1
OTX2
OVOL2
OXA1L
OXCT1
OXCT2
OXLD1
OXNAD1
OXR1
OXSM
OXTR
P2RX1
P2RX2
P2RY12
P3H1
P3H1(LEPRE1)
P3H2
P4HA2
P4HB
P4HTM
PABPC4L
PABPC5
PABPN1
PACRG
PACS1
PACS2
PACSIN2
PADI3
PAF1
PAFAH1B1
PAFAH1B3
PAH
PAICS
PAK1
PAK3
PAK7
PALB2
PALLD
PALM
PAM
PAM16
PANK2
PANX1
PAPSS2
PARK2
PARK7
PARL
PARN
PARP10
PARS2
PASK
PAX1
PAX2
PAX3
PAX4
PAX5
PAX6
PAX8
PAX9
PAXBP1
PBRM1
PBX1
PC
PCBD1
PCBD2
PCCA
PCCB
PCDH11X
PCDH12
PCDH15
PCDH19
PCDH7
PCDHB16
PCDHB4
PCGF2
PCK1
PCK2
PCLO
PCM1
PCNA
PCNT
PCSK1
PCSK5
PCSK9
PCYT1A
PCYT2
PDC
PDCD1
PDCD10
PDE10A
PDE11A
PDE12
PDE2A
PDE3A
PDE4B
PDE4D
PDE5A
PDE6A
PDE6B
PDE6C
PDE6D
PDE6G
PDE6H
PDE8B
PDF
PDGFB
PDGFRA
PDGFRB
PDHA1
PDHA2
PDHB
PDHX
PDIA3
PDK1
PDK2
PDK3
PDK4
PDLIM3
PDP1
PDP2
PDPR
PDSS1
PDSS2
PDX1
PDYN
PDZD2
PDZD7
PECR
PEO1
PEPD
PER1
PER2
PET100
PET117
PEX1
PEX10
PEX11A
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX5L
PEX6
PEX7
PFKFB1
PFKL
PFKM
PFN1
PGAM2
PGAM5
PGAP1
PGAP2
PGAP3
PGK1
PGM1
PGM3
PGRMC1
PGS1
PHACTR1
PHB2
PHC1
PHEX
PHF2
PHF21A
PHF3
PHF6
PHF8
PHGDH
PHIP
PHKA1
PHKA2
PHKB
PHKG2
PHOX2A
PHOX2B
PHYH
PI4K2A
PI4KA
PIAS4
PIBF1
PICALM
PICK1
PIEZO1
PIEZO2
PIF1
PIFO
PIGA
PIGB
PIGC
PIGF
PIGG
PIGH
PIGK
PIGL
PIGM
PIGN
PIGO
PIGP
PIGQ
PIGS
PIGT
PIGU
PIGV
PIGW
PIGX
PIGY
PIGZ
PIH1D3
PIK3AP1
PIK3C2A
PIK3CA
PIK3CB
PIK3CD
PIK3R1
PIK3R2
PIK3R5
PIKFYVE
PINK1
PIP5K1C
PISD
PITPNM3
PITRM1
PITX1
PITX2
PITX3
PKD1
PKD1L1
PKD2
PKDCC
PKHD1
PKLR
PKP1
PKP2
PKP4
PLA2G5
PLA2G6
PLAA
PLAGL1
PLAT
PLAU
PLCB1
PLCB4
PLCD1
PLCE1
PLCG2
PLCZ1
PLD1
PLD3
PLEC
PLEC1
PLEKHG2
PLEKHG4
PLEKHG5
PLEKHM1
PLEKHM2
PLG
PLGRKT
PLIN1
PLK4
PLN
PLOD1
PLOD2
PLOD3
PLP1
PLPP2
PLS3
PLVAP
PLXNA2
PLXNA3
PLXNB3
PLXND1
PMAIP1
PMM2
PMP2
PMP22
PMPCA
PMPCB
PMS1
PMS2
PMVK
PNKD
PNKP
PNLIP
PNP
PNPLA1
PNPLA2
PNPLA6
PNPLA8
PNPO
PNPT1
POC1A
POC1B
POC5
PODXL
POFUT1
POGLUT1
POGZ
POLA1
POLD1
POLDIP2
POLE
POLG
POLG2
POLH
POLL
POLQ
POLR1A
POLR1C
POLR1D
POLR2A
POLR2M
POLR3A
POLR3B
POLRMT
POMC
POMGNT1
POMGNT2
POMK
POMP
POMT1
POMT2
PON1
PON2
PON3
POP1
POR
PORCN
POT1
POU1F1
POU3F2
POU3F3
POU3F4
POU4F1
POU4F3
PP1B
PPA2
PPAP2C
PPARG
PPARGC1A
PPARGC1B
PPCS
PPIB
PPIF
PPM1B
PPM1D
PPM1K
PPOX
PPP1CB
PPP1R12A
PPP1R13B
PPP1R13L
PPP1R15B
PPP1R21
PPP1R3A
PPP1R3C
PPP1R3F
PPP2CA
PPP2R1A
PPP2R2B
PPP2R2C
PPP2R5A
PPP2R5B
PPP2R5C
PPP2R5D
PPP3CA
PPT1
PPTC7
PPWD1
PQBP1
PRCD
PRCP
PRDM12
PRDM13
PRDM16
PRDM5
PRDM6
PRDM8
PRDM9
PRDX1
PRDX2
PRDX3
PRDX4
PRDX5
PRDX6
PRELID1
PRELID2
PREPL
PREX2
PRF1
PRG4
PRICKLE1
PRICKLE2
PRICKLE3
PRIMA1
PRIMPOL
PRKAA1
PRKAB1
PRKACG
PRKAG2
PRKAG3
PRKAR1A
PRKAR1B
PRKCA
PRKCB
PRKCD
PRKCE
PRKCG
PRKCSH
PRKD1
PRKDC
PRKG1
PRKG2
PRKN
PRKRA
PRM1
PRM2
PRM3
PRMT1
PRMT7
PRMT9
PRNP
PROC
PRODH
PRODH2
PROK2
PROKR2
PROM1
PROP1
PROS1
PROSC
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH
PRPH2
PRPS1
PRR12
PRRT2
PRRX1
PRSS1
PRSS12
PRSS2
PRSS35
PRSS56
PRTN3
PRUNE
PRUNE1
PRX
PSAP
PSAT1
PSEN1
PSEN2
PSMB8
PSMB9
PSMC3IP
PSMC5
PSMD12
PSPH
PSTK
PSTPIP1
PTCD1
PTCD2
PTCD3
PTCH1
PTCH2
PTCHD1
PTCRA
PTDSS1