ClinVar Miner

Variants reported as not provided

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Total variants: 21613
Total variants unanimously reported as not provided: 10896

Breakdown by submitter #

Total submitters: 148
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Submitter Variants
Brotman Baty Institute,University of Washington 3893
ITMI 2684
Tuberous sclerosis database (TSC2) 1618
Retina International 1545
GenomeConnect, ClinGen 1389
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 1347
Epithelial Biology; Institute of Medical Biology, Singapore 1094
ClinVar Staff, National Center for Biotechnology Information (NCBI) 988
UniProtKB/Swiss-Prot 916
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 638
Tuberous sclerosis database (TSC1) 570
Human Evolutionary Genetics, Institut Pasteur 539
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE 536
Academic Unit of Haematology, University of Sheffield 382
Leiden Muscular Dystrophy (RYR1) 378
VIB Department of Molecular Genetics, University of Antwerp 334
Psychiatry Genetics Yale University 236
Dudley Research Group,Pacific Northwest Research Institute 224
Institute of Molecular and Cell Biology, University of Tartu 145
GeneDx 134
RettBASE 124
Research and Development, ARUP Laboratories 110
Diasio Lab, Mayo Clinic 107
Harris Lab, University of Minnesota 99
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 95
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 85
Dept. of Genetics and Pharmacogenomics, Merck Research Labs 79
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 74
Leiden Muscular Dystrophy (CAV3) 69
Database of Curated Mutations (DoCM) 61
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages 53
Casey Eye Institute Glaucoma Genetics Lab 52
Leiden Muscular Dystrophy (MYPN) 48
Seelig Lab,University of Washington 45
Laboratory of Translational Genomics, National Cancer Institute 42
University of Sydney Medical Foundation 42
SNPedia 39
Molecular Psychiatry Laboratory, RIKEN 35
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 35
Breast Cancer Information Core (BIC) (BRCA1) 34
Leiden Muscular Dystrophy (TPM1) 32
ANO5 @LOVD 32
Centre for molecular medicine, Karolinska Institutet 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 28
Medical Genetics Unit, Ain Shams University Pediatrics Hospital 26
Breast Cancer Information Core (BIC) (BRCA2) 25
GenomeConnect - CFC International 25
Integrated Genetics/Laboratory Corporation of America 24
Inserm U 954, Faculté de Médecine de Nancy 23
TPM2 homepage - Leiden Muscular Dystrophy pages 23
Leiden Muscular Dystrophy (MYL2) 22
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 22
Department of Ophthalmology and Visual Sciences Kyoto University 21
Medical Biology Lab, Gaziantep University 20
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 20
Institute of Human Genetics Greifswald, Research Division,University Medicine Greifswald 20
CeMIA 20
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague 19
Lee Lab(KAT6B), Baylor College of Medicine 19
GenomeConnect - CureCADASIL 18
GenomeConnect - GM1 18
Children's Cancer Therapy Development Institute 18
TPM3 homepage - Leiden Muscular Dystrophy pages 17
James Howe Lab,University of Iowa Hospital and Clinics 17
Hospital for Sick Children 15
Leiden Muscular Dystrophy (MYL3) 14
Department of Molecular Biophysics, University of Lodz 13
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 12
Leiden Muscular Dystrophy (DAG1) 12
Leiden Muscular Dystrophy (TNNT1) 12
Osteogenesis Imperfecta Variant Database (PPIB) 11
Leiden Muscular Dystrophy (TNNT3) 10
Richard Lifton Laboratory, Yale University School of Medicine 10
UMR_S938_Pr. Le Bouc INSERM 10
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 10
Immunobiology Lab; University of Kashmir 10
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 9
Functional Genomics, Thrombosis Research Institute, India 9
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 9
Leiden Muscular Dystrophy pages (B3GALNT2) 9
TNNI2 homepage - Leiden Muscular Dystrophy pages 8
Laboratory of Molecular Genetics MedGen 7
Leiden Muscular Dystrophy (MYOZ2) 6
STRNAD Lab, University Hospital of Ulm 6
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 6
Narod's Lab, University of Toronto 6
Laboratoire de Génétique Moléculaire, CHU Pontchaillou 5
Cole and Hamvas Lab, Washington University - St. Louis 5
Department of Psychiatry,Nagoya University 5
Leiden Muscular Dystrophy (PDLIM3) 4
Medical Genetics of Dicle University 4
Colsan 4
Iowa Institute Of Oral Health Research,University of Iowa 4
Leiden Muscular Dystrophy (DPM3) 3
Osteogenesis Imperfecta Variant Database (SERPINF1) 3
Invitae 3
Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC) 3
Department of Plant Molecular and Cellular Biology Adam Mickiewicz University 3
Peking Union Medical College Hospital 3
Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Faculté des Sciences 3
Universitäts-Kinderspital Zürich 3
Centre for Genetic Disorders, Banaras Hindu University 3
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 3
Devine Lab Institute for Genome Sciences, University of Maryland School of Medicine 3
Costain lab, The Hospital for Sick Children 3
GenomeConnect - No Stomach For Cancer 3
GeneReviews 2
Systems Biology Division; Zhejiang-California International Nanosystems Institute 2
Center for Applied Genomics,Children's Hospital of Philadelphia 2
Lab. of Molecular Biology of Arterial Hypertension University of Padova 2
Alzheimer Center and Department of Neurology, VU University Medical Center 2
Laboratorio de Genetica Humana; Universidad de los Andes 2
Miller Lab NIH/NIDDK 2
Reproductive Endocrinology and immunology College of Medicine, National Cheng Kung University 2
Laboratório de Genética Molecula,r University of Campinas - Unicamp 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 2
idemuth, Charité - Universiätsmedizin Berlin 2
Yale Center for Mendelian Genomics,Yale University 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 2
OMIM 1
Osteogenesis Imperfecta Variant Database (SP7) 1
Sharing Clinical Reports Project (SCRP) 1
Stoller Lab Children's Hospital of Philadelphia 1
Endocrinology Clinic, Seth G.S. Medical College 1
Community Genetics, University of British Columbia 1
Brunetti-Pierri's lab TIGEM 1
Department of Immunology, Genetics and Pathology, Uppsala University 1
Rajkovic Lab, University of Pittsburgh 1
Molecular Genetics Unit, Terrassa Hospital 1
Central Laboratory, The First Affiliated Hospital, Jinan University 1
Scientific Bio-Minds 1
Pharmacogenetics and Inflammatory Diseases Research Group, University of Otago 1
Texas Scottish Rite Hospital for Children 1
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1
Institute of Human Genetics, RWTH University Hospital Aachen 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 1
The Institute of Human Genetics, Galilee Medical Center 1
Laboratório de Genética Humana e Médica, Universidade Federal do Pará 1
Department of Medical Genetics, Oslo University Hospital 1
Institute of Human Genetics,Justus-Liebig University 1
Division of Human Genetics,Children's Hospital of Philadelphia 1
Biosciences and Nutrition,Karolinska Institutet 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 1
Cancer Biology Lab,VIT University 1
Medical Genetics Laboratory,University of Pavia 1
Department of Pediatric Cardiology, Nephrology and Rheumatology,The Affiliated Hospital of Qingdao University 1
Sucov lab,Medical University of South Carolina 1

Breakdown by condition #

Total conditions: 919
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Condition Variants
not provided 7925
Breast-ovarian cancer, familial 1 3920
not specified 2754
Tuberous sclerosis syndrome 2140
Congenital long QT syndrome 892
Familial cancer of breast 475
Cystic fibrosis 446
Brugada syndrome 224
Familial Mediterranean fever 169
Severe myoclonic epilepsy in infancy 150
Hydatidiform mole, recurrent, 1 111
Renal carnitine transport defect 110
Familial cold autoinflammatory syndrome 1 98
Hyperimmunoglobulin D with periodic fever 91
TNF receptor-associated periodic fever syndrome (TRAPS) 85
Blau syndrome 80
Normal pregnancy 61
Glaucoma 1, open angle, F 51
Tobacco use disorder 43
Gestational diabetes mellitus uncontrolled 39
Preeclampsia 38
Urinary bladder cancer 33
Large for gestational age 32
Lowe syndrome 32
Severe combined immunodeficiency due to ADA deficiency 29
Breast-ovarian cancer, familial 2 28
Hypotension 28
Long QT syndrome 1 27
Non-small cell lung cancer 26
Lymphangiomyomatosis; Tuberous sclerosis syndrome 24
Ceroid lipofuscinosis neuronal 2 23
Dyskeratosis congenita, X-linked 23
Generalized epilepsy with febrile seizures plus, type 1 23
Lymphangiomyomatosis 22
Episodic ataxia type 2 20
Hereditary angioedema with normal C1Inh 20
Tuberous sclerosis 2 20
CIC-DUX Sarcoma 18
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 18
Atrial fibrillation 17
Small for gestational age 17
Permanent neonatal diabetes mellitus 16
Autism spectrum disorder 15
Familial hemiplegic migraine type 1 15
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 14
SUDDEN INFANT DEATH SYNDROME 14
Sarcoma 13
Wilson disease 12
Ehlers-Danlos syndrome, classic type 11
Polycystic kidney disease, adult type 11
Alloalbuminemia 10
Carcinoma of colon 10
Analbuminemia 9
Cerebral cavernous malformations 3 9
Creatine transporter deficiency 9
Beckwith-Wiedemann syndrome 8
Cerebral cavernous malformations 2 8
Endometrial carcinoma 8
GM1 gangliosidosis 8
Majeed syndrome 8
Neoplasm of ovary 8
Noonan syndrome 1 8
Chronic myelogenous leukemia, BCR-ABL1 positive 7
Ehlers-Danlos syndrome, type 4 7
Leukocyte adhesion deficiency 1 7
Lynch syndrome 7
Primary dilated cardiomyopathy 7
short QT syndrome 7
Acquired long QT syndrome 6
Arrhythmia 6
Cardiac conduction defect, nonspecific 6
Deficiency of steroid 11-beta-monooxygenase 6
GM1 gangliosidosis type 2 6
Merosin deficient congenital muscular dystrophy 6
Multiple endocrine neoplasia, type 1 6
Susceptibility to hepatitis C virus 6
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 6
Autosomal recessive polycystic kidney disease 5
Familial hypertrophic cardiomyopathy 10 5
Hennekam lymphangiectasia-lymphedema syndrome 1 5
Maturity-onset diabetes of the young, type 3 5
Neoplasm of the large intestine 5
POLG-related disorders 5
Breast neoplasm 4
Cardio-facio-cutaneous syndrome 4
Cardiofaciocutaneous syndrome 1 4
Cohen syndrome 4
Deficiency of guanidinoacetate methyltransferase 4
Early infantile epileptic encephalopathy 18 4
Familial hemiplegic migraine type 3 4
Generalized epilepsy 4
Imerslund-Gräsbeck syndrome 4
Jervell and Lange-Nielsen syndrome 1 4
Marfan syndrome 4
Neurofibromatosis, type 1 4
Polycystic liver disease 1 4
Rasopathy 4
Spastic paraplegia 4, autosomal dominant 4
Stargardt disease 4
TTN-Related Disorders 4
Torsades de pointes 4
Ventricular tachycardia 4
Bainbridge-Ropers syndrome 3
Becker muscular dystrophy; Duchenne muscular dystrophy 3
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 3
Biotinidase deficiency 3
COL1A2-Related Disorder 3
Cerebral cavernous malformation 3
Cobalamin C disease 3
Combined oxidative phosphorylation deficiency 12 3
Congenital adrenal hyperplasia 3
D-Glyceric aciduria 3
Deafness 3
Deafness, autosomal recessive 16 3
Deafness, autosomal recessive 84b 3
Deficiency of butyryl-CoA dehydrogenase 3
Deficiency of steroid 17-alpha-monooxygenase 3
Dent disease type 2 3
Donnai-Barrow syndrome 3
Early onset epileptic encephalopathy 3
Ehlers-Danlos syndrome, musculocontractural type 3
Ehlers-Danlos syndrome, spondylodysplastic type, 1 3
Fabry disease 3
Familial hypertrophic cardiomyopathy 3 3
Familial hypertrophic cardiomyopathy 8 3
Familial thoracic aortic aneurysm and aortic dissection 3
Focal epilepsy 3
Glaucoma 3, primary congenital, A 3
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 3
Hearing loss 3
Hereditary breast and ovarian cancer syndrome 3
Hereditary diffuse gastric cancer 3
Hereditary spastic paraplegia 7 3
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 3
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 3
Hypertrophic cardiomyopathy 3
Intrinsic factor deficiency 3
Kabuki syndrome 1 3
Laminin alpha 2-related dystrophy 3
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3
Maturity-onset diabetes of the young, type 10 3
Melanoma 3
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 3
Mitochondrial DNA-related disorder 3
Mitochondrial complex I deficiency 3
Myelodysplastic syndrome 3
Neonatal diabetes mellitus 3
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 3
PIGT-related disorder 3
Phenylketonuria 3
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 3
RYR1-Related Disorder 3
Retinitis pigmentosa 3
Spastic paraplegia 49, autosomal recessive 3
Tatton-Brown-rahman syndrome 3
Tibial muscular dystrophy 3
Wolfram syndrome 1; Autosomal dominant nonsyndromic deafness 6; Wolfram-like syndrome, autosomal dominant 3
van der Woude syndrome 1 3
46,XY sex reversal, type 5 2
Acromelic frontonasal dysostosis 2
Acute Porphyria 2
Alstrom syndrome 2
Aortic valve disease 1; Adams-Oliver syndrome 5 2
Aplastic anemia 2
Atrioventricular block 2
Autosomal dominant optic atrophy classic form 2
Autosomal recessive agammaglobulinemia 1 2
Autosomal recessive congenital ichthyosis 3 2
Breast-ovarian cancer, familial 3 2
Brittle cornea syndrome 1 2
Bronze diabetes 2
CACNA1A-Related Disorder 2
CARASIL syndrome 2
CASK-Related Disorder 2
CHD3-Related Disorder 2
CNOT1-Related Disorder 2
Cardiac arrhythmia, ankyrin B-related 2
Cardiomyopathy 2
Catecholaminergic polymorphic ventricular tachycardia type 1 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy with external ophthalmoplegia 2
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 2
Charcot-Marie-Tooth disease type 2P 2
Charcot-Marie-Tooth disease, type 2L 2
Charlevoix-Saguenay spastic ataxia 2
Chromosome 2q23.1 deletion syndrome 2
Classic homocystinuria 2
Collagen VI-related myopathy 2
Congenital contractural arachnodactyly 2
Congenital disorder of glycosylation type Ir 2
Congenital ichthyosiform erythroderma 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2
DCTN1-Related Disorder 2
DDX3X-Related Disorder 2
DEPDC5-Related Disorder 2
DYNC2H1-Related Disorder 2
Deafness, autosomal recessive 12; Usher syndrome type 1D 2
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2
Deafness, autosomal recessive 77 2
Deafness, autosomal recessive 84 2
Deficiency of butyrylcholine esterase 2
Developmental and epileptic encephalopathy 92 2
Developmental and epileptic encephalopathy 94 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2
Dilated cardiomyopathy 1Y 2
Distal myopathy, Tateyama type 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2
Dystrophic epidermolysis bullosa 2
ELP2-Related Disorders 2
EMC1-Related Disorder 2
Epilepsy, childhood absence 6 2
Familial adenomatous polyposis 1 2
Familial colorectal cancer 2
Familial hypercholesterolemia 1 2
Familial hypertrophic cardiomyopathy 4 2
GATAD2B-Related Disorder 2
GRIN1-Related Disorder 2
Glioblastoma 2
Glycogen storage disease 0, muscle 2
Glycogen storage disease, type IV 2
Glycogen storage disease, type V 2
Hereditary Paraganglioma-Pheochromocytoma Syndromes 2
Hereditary cancer 2
Hereditary leiomyomatosis and renal cell cancer 2
Hyperlipoproteinemia, type I 2
Hyperphenylalaninemia, BH4-deficient, D 2
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 2
Hypophosphatemic rickets, autosomal recessive, 2 2
Ichthyosis vulgaris 2
Infantile myofibromatosis 1 2
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2
Intellectual developmental disorder with cardiac arrhythmia; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 2
Intellectual disability 2
KBG syndrome 2
Kufor-Rakeb syndrome 2
Leber hereditary optic neuropathy 2
Leukoencephalopathy with vanishing white matter 2
Limb-girdle muscular dystrophy, type 2A 2
Long QT syndrome 2
Long QT syndrome 2 2
Lung carcinoma 2
MARS-Related Disorder 2
Major depressive disorder 2
Maturity-onset diabetes of the young, type 1 2
Mental retardation, syndromic, Claes-Jensen type, X-linked 2
Metachromatic leukodystrophy 2
Methylmalonic aciduria and homocystinuria type cblF 2
Microcephaly, normal intelligence and immunodeficiency 2
Mitochondrial DNA depletion syndrome, hepatocerebral form 2
Mitochondrial complex IV deficiency; Infantile encephalopathy 2
Multiple fibrofolliculomas 2
Muscular dystrophy 2
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2
Myeloperoxidase deficiency 2
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 2
Myopathy, myofibrillar, 9, with early respiratory failure 2
Nephrogenic diabetes insipidus 2
Noonan syndrome 4 2
Noonan syndrome 5 2
Partial RhD 2
Periventricular nodular heterotopia 1 2
Pitt-Hopkins-like syndrome 1 2
Poretti-Boltshauser syndrome 2
Primary autosomal recessive microcephaly 10 2
Primary autosomal recessive microcephaly 3 2
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 2
Prostate neoplasm 2
Pseudoxanthoma elasticum 2
RPE65-Related Disorders 2
Retinitis pigmentosa 40 2
Rubinstein-Taybi syndrome 2 2
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 2
SCN2A-related disorder 2
SCN5A-related disorder 2
SHANK3-Related Disorder 2
SLC6A1-Related Disorder 2
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 2
Short stature, brachydactyly, intellectual developmental disability, and seizures 2
Smith-Lemli-Opitz syndrome 2
Spastic paraplegia 11, autosomal recessive 2
Spermatogenic failure 10 2
Spinocerebellar ataxia type 5; Spinocerebellar ataxia, autosomal recessive 14 2
Spinocerebellar ataxia type 6 2
Spinocerebellar ataxia, autosomal recessive 8 2
Stargardt disease 1 2
Succinate-semialdehyde dehydrogenase deficiency 2
Sudden cardiac death 2
TBL1XR1-Related Disorder 2
Telangiectasia, hereditary hemorrhagic, type 2 2
Transcolabamin II deficiency 2
Type 2 diabetes mellitus 2
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 2
Tyrosinase-positive oculocutaneous albinism 2
UNC80-Related Disorder 2
Ventricular fibrillation 2
Vitamin B12-responsive methylmalonic acidemia type cblB 2
Warsaw breakage syndrome 2
Weak RhD expression 2
Xia-Gibbs syndrome 2
1q21.1 recurrent microdeletion 1
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease, axonal, type 2Q 1
3 Methylcrotonyl-CoA carboxylase 1 deficiency 1
3-Methylglutaconic aciduria type 3; Optic atrophy 3 1
3-methylcrotonyl CoA carboxylase 2 deficiency 1
ABCB4-related disorders 1
ABCD syndrome; Hirschsprung disease 2; Waardenburg syndrome type 4A 1
ABL1-Related Disorder 1
ACO2-related disorder 1
ACO2-related disorders 1
ACTG2-Related Disorder 1
AKT3-Related Disorder 1
ALG2-CDG 1
AP4S1-related disorder 1
APS41-Related disorder 1
ASH1L-Related Disorder 1
ATRX-Related Disorder 1
Abnormality of the pancreas 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Hypochondroplasia 1
Achromatopsia 2 1
Acromesomelic dysplasia, Maroteaux type 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 1
Acute myeloid leukemia 1
Adams-Oliver syndrome 2 1
Agenesis of the corpus callosum with peripheral neuropathy 1
Allopurinol response 1
Alpha thalassemia-X-linked intellectual disability syndrome 1
Alpha-1-antitrypsin deficiency 1
Alpha-thalassemia and related diseases 1
Alport syndrome 1, X-linked recessive 1
Amyloidogenic transthyretin amyloidosis 1
Amyotrophic lateral sclerosis type 1 1
Angelman syndrome 1
Angelman syndrome; Early infantile epileptic encephalopathy 2 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 1
Anterior segment dysgenesis 1; Congenital primary aphakia; Familial thoracic aortic aneurysm and aortic dissection 1
Aortic aneurysm, familial thoracic 10 1
Aortic aneurysm, familial thoracic 4 1
Aortic aneurysm, familial thoracic 4; Congenital aneurysm of ascending aorta 1
Aortic aneurysm, familial thoracic 7 1
Aortic aneurysm, familial thoracic 8 1
Arboleda-Tham syndrome 1
Arginase deficiency 1
Arterial tortuosity syndrome 1
Association with valproate-induced liver toxicity 1
Ataxia-telangiectasia syndrome 1
Ataxia-telangiectasia syndrome; Hereditary cancer 1
Ataxia-telangiectasia syndrome; Malignant tumor of breast 1
Ataxia-telangiectasia-like disorder 1 1
Atrophoderma vermiculatum 1
Autism, susceptibility to, 18 1
Autism, susceptibility to, X-linked 6 1
Autosomal dominant familial acute myeloid leukemia 1
Autosomal dominant popliteal pterygium syndrome 1
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
Autosomal dominant retinitis pigmentosa 1
Autosomal dominant torsion dystonia 4; Leukodystrophy, hypomyelinating, 6 1
Autosomal recessive DOPA responsive dystonia 1
Autosomal recessive cutis laxa type IA; Cutis laxa, autosomal dominant 2 1
Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 1
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 1
Autosomal recessive osteopetrosis 1 1
BRWD3-Related Disorder 1
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 1 1
Bardet-Biedl syndrome 20 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 1
Benign Soft Tissue Neoplasm of Uncertain Differentiation 1
Benign familial hematuria 1
Bernard Soulier syndrome 1
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Pseudo von Willebrand disease 1
Beta-D-mannosidosis 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia 1
Bethlem myopathy 1 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1
Brachydactyly 1
Brachydactyly type A2 1
Brachydactyly type B1 1
Breast cancer, susceptibility to; Colon cancer, susceptibility to 1
Breast-ovarian cancer, familial 4 1
CACNA1C-Related Disorder 1
CACNA1G-related disorders 1
CACNA1H-related disorder 1
CEP290-related ciliopathies 1
CHARGE association 1
CHD2-Related Disorder 1
CHD8-Related Disorders 1
CLCN4-related disorder 1
CLTC-Related Disorder 1
COL11A2- Related Disorder 1
COL12A1- Related Disorder 1
COL2A1-Related Disorder 1
COL3A1-Related Disorder 1
COL4A1-Related Disorder 1
COL6A1-related Disorder 1
CSNK2A1- Related Disorders 1
CTCF-Related Disorder 1
Carcinoma of pancreas 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 1
Cardiofaciocutaneous syndrome 3 1
Carney complex 1
Carnitine palmitoyltransferase II deficiency 1
Carnitine palmitoyltransferase II deficiency, lethal neonatal 1
Cataract 5 multiple types 1
Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 1
Cerebellar ataxia, nonprogressive, with mental retardation 1
Charcot-Marie-Tooth disease axonal type 2C 1
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 1
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1
Charcot-Marie-Tooth disease, axonal, type 2z 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 1
Charcot-Marie-Tooth disease, type 2N 1
Cholestanol storage disease 1
Chromosome 15q13.3 microdeletion syndrome 1
Chromosome Xp21 deletion syndrome 1
Chromosome Xq28 deletion syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1 1
Chronic lymphocytic leukemia 1
Ciliary dyskinesia, primary, 11 1
Ciliary dyskinesia, primary, 34 1
Citrullinemia type I 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1
Coffin-Siris syndrome 1
Coffin-Siris syndrome 1 1
Combined oxidative phosphorylation deficiency 11 1
Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 1
Combined oxidative phosphorylation deficiency 15 1
Combined oxidative phosphorylation deficiency 16 1
Combined oxidative phosphorylation deficiency 20 1
Combined oxidative phosphorylation deficiency 23 1
Combined oxidative phosphorylation deficiency 24 1
Combined oxidative phosphorylation deficiency 27 1
Combined oxidative phosphorylation deficiency 9 1
Common variable immunodeficiency 2 1
Congenital aniridia 1
Congenital disorder of glycosylation type 1O 1
Congenital disorder of glycosylation type 1t 1
Congenital disorder of glycosylation type 1x 1
Congenital disorder of glycosylation type 2L 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
Congenital hyperammonemia, type I 1
Congenital hypothyroidism 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1
Congenital stationary night blindness 1
Congenital stationary night blindness, type 1F 1
Cornelia de Lange syndrome 1 1
Coronary artery disease 1
Coronary heart disease 2 1
Cortical dysplasia, complex, with other brain malformations 2 1
Cortical dysplasia, complex, with other brain malformations 6 1
Corticosterone methyloxidase type 2 deficiency 1
Craniosynostosis 3 1
Cutis Laxa Syndrome 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 1
Cutis laxa, autosomal recessive IIIA; Hereditary spastic paraplegia 9A; Spastic paraplegia 9b, autosomal recessive; Cutis laxa, autosomal dominant 3 1
DIABLO-Related Hearing Loss 1
DLG3-Related Disorder 1
DMD-Related Disorder 1
DNMT1-Related Disorder 1
DNMT3A-Related Disorder 1
DPAGT1-CDG; Congenital myasthenic syndrome 13 1
DSPP-Related Disorder 1
DYNC1H1-related disorders 1
DYSF- Related Disorder 1
Deafness, X-linked 2 1
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 1
Deafness, autosomal dominant 3a 1
Deafness, autosomal dominant 4 1
Deafness, autosomal dominant 4; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 1
Deafness, autosomal recessive 106 1
Deafness, autosomal recessive 28 1
Deafness, autosomal recessive 3 1
Deafness, autosomal recessive 86 1
Deafness, autosomal recessive 98 1
Deficiency of iodide peroxidase 1
Deficiency of isobutyryl-CoA dehydrogenase 1
Deficiency of transaldolase 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 1
Developmental and epileptic encephalopathy, 64 1
Developmental dyslexia 1
Diabetes mellitus, insulin-dependent, 2 1
Dihydropyrimidine dehydrogenase deficiency 1
Dilated cardiomyopathy 1A 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy, LMNA-related 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1
Dilated cardiomyopathy 1G 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9 1
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 1
Distal spinal muscular atrophy, autosomal recessive 4 1
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 1
Dominant dystrophic epidermolysis bullosa with absence of skin 1
Duane syndrome type 1 1
Duchenne muscular dystrophy 1
Dystonia 28, childhood-onset 1
Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1
Dystonia, primary cervical 1
EAST syndrome 1
EZH2-related disorder 1
Early infantile epileptic encephalopathy 10 1
Ectodermal dysplasia-syndactyly syndrome 1 1
Ehlers-Danlos syndrome 1
Ehlers-Danlos syndrome classic type 2; Ehlers-Danlos syndrome, classic type 1
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta type I; Ehlers-danlos syndrome, arthrochalasia type, 2 1
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta 1
Ehlers-Danlos syndrome, type 3 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 1
Elliptocytosis 1 1
Endometrial carcinoma; Familial adenomatous polyposis 4 1
Endometrial neoplasm 1
Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q 1
Epilepsy, focal, with speech disorder and with or without mental retardation 1
Epilepsy, nocturnal frontal lobe, type 1 1
Epileptic encephalopathy Lennox-Gastaut type 1
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked; Corpus callosum agenesis-abnormal genitalia syndrome; Partington syndrome 1
Epileptic encephalopathy, early infantile, 32 1
Epileptic encephalopathy, early infantile, 33 1
Epileptic encephalopathy, early infantile, 43 1
Epileptic encephalopathy, early infantile, 54 1
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 1
Episodic ataxia type 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Familial hemiplegic migraine type 1; Hemiplegia-hemiconvulsion-epilepsy syndrome 1
Essential hypertension 1
Estrogen resistance 1
Ethylmalonic encephalopathy 1
FBN1-Related Disorders 1
FKRP-Related Disorder 1
FLG-Related Disorder 1
FLNA-related disorder 1
FLNB-Related Disorder 1
Facioscapulohumeral muscular dystrophy 2 1
Familial cardiomyopathy 1
Familial cold autoinflammatory syndrome 2 1
Familial exudative vitreoretinopathy 1
Familial hemophagocytic lymphohistiocytosis 1
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 1
Familial hypertrophic cardiomyopathy 1 1
Familial hypertrophic cardiomyopathy 12 1
Familial infantile myasthenia 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 1
Familial periodic paralysis 1
Familial thoracic aortic aneurysm 1
Fanconi anemia, complementation group D1; Hereditary breast and ovarian cancer syndrome 1
Fanconi anemia, complementation group M 1
Fanconi anemia, complementation group N; Hereditary cancer-predisposing syndrome 1
Fanconi anemia; Hereditary cancer 1
Focal cortical dysplasia type II; Smith-Kingsmore syndrome 1
Focal segmental glomerulosclerosis 8 1
Fragile site 11b; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 1
Fructose-biphosphatase deficiency 1
Fundus albipunctatus, autosomal recessive 1
GABRA6-Related Disorder 1
GABRG2-Related Disorder 1
GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2 1
GNB1-Related Disorder 1
GNE myopathy 1
GRIA3-Related Disorder 1
GRIN2B-Related Disorder 1
Gamma-aminobutyric acid transaminase deficiency 1
Gastrointestinal stromal tumor 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1 1
Gaucher disease 1
Generalized epilepsy with febrile seizures plus, type 2 1
Generalized juvenile polyposis/juvenile polyposis coli 1
Glaucoma 3, primary congenital, A; Irido-corneo-trabecular dysgenesis 1
Glomerulopathy with fibronectin deposits 2; Plasma fibronectin deficiency 1
Glomuvenous malformations 1
Glucose 6 phosphate dehydrogenase deficiency 1
Glycogen phosphorylase kinase deficiency 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1
Glycogen storage disease due to muscle beta-enolase deficiency 1
Glycogen storage disease type III 1
Glycogen storage disease type X 1
Glycogen storage disease, type II 1
Glycogen storage disease, type VII 1
Gorlin syndrome 1
Granulosa Cell Tumor 1
Growth delay due to insulin-like growth factor I resistance 1
Guanidinoacetate methyltransferase (GAMT) deficiency 1
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 1
HIVEP2-Related Disorder 1
HSD17B10-Related Disorder 1
HSPB1-Related Disorder 1
HUWE1-Related Disorder 1
Harel-Yoon syndrome 1
Helsmoortel-Van der Aa Syndrome 1
Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to 1
Hereditary diffuse gastric cancer; Breast cancer, lobular 1
Hereditary diffuse leukoencephalopathy with spheroids 1
Hereditary factor IX deficiency disease 1
Hereditary factor XI deficiency disease 1
Hereditary fructosuria 1
Hereditary insensitivity to pain with anhidrosis 1
Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 1
Hereditary nonpolyposis colon cancer 1
Hereditary nonpolyposis colorectal cancer type 8 1
Hereditary nonpolyposis colorectal neoplasms 1
Hereditary pancreatitis 1
Hereditary sensory and autonomic neuropathy type IC 1
Heterotopia, periventricular, autosomal recessive 1
Hyperammonemia, type III 1
Hyperekplexia 1 1
Hyperphosphatasia with mental retardation syndrome 2 1
Hypogonadism with anosmia 1
Hypomyelinating leukodystrophy 3 1
Hypomyelination and Congenital Cataract 1
Hypomyelination, global cerebral 1
Hypoparathyroidism-deafness-renal disease syndrome 1
Hypophosphatasia 1
Hypophosphatemia 1
Hypotonia, ataxia, and delayed development syndrome 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1
Hypotrichosis 6 1
IGF1R-Related Disorder 1
IL1RAPL1-Related Disorder 1
ISPD-Related Disorder 1
Ichthyosis prematurity syndrome 1
Infantile GM1 gangliosidosis 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I 1
Intellectual disability, autosomal dominant 9 1
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome 1
Intellectual disability; Benign familial neonatal seizures; Lennox-Gastaut syndrome 1
Juvenile myoclonic epilepsy 1
Juvenile myoclonic epilepsy; Intellectual disability 1
KANK1- Related Disorder 1
KCNQ2-Related Disorders 1
Keppen-Lubinsky syndrome 1
LOX-Related Disorder 1
LRP4-Related Disorder 1
LTBP2-related Disorder 1
LZTR1-Related Disorder 1
Leber congenital amaurosis 1
Leber hereditary optic neuropathy; NARP syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 1
Leigh syndrome 1
Leigh syndrome; Charcot-Marie-Tooth disease, type 4k 1
Leigh syndrome; Dilated cardiomyopathy 1GG 1
Leukodystrophy, hypomyelinating, 6 1
Leukoencephalopathy with dystonia and motor neuropathy 1
Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease, perinatal lethal; Gaucher disease type 3C; Parkinson disease, late-onset 1
Limb-girdle muscular dystrophy, type 2Q 1
Lissencephaly 3 1
Lissencephaly due to LIS1 mutation 1
Lissencephaly; Polymicrogyria 1
Loeys-Dietz syndrome 3 1
Loeys-Dietz syndrome; Dilatation of the thoracic aorta; Thoracic aortic dissection 1
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm 1
Lung adenocarcinoma 1
Lymphoblastic leukemia, acute, with lymphomatous features 1
Lymphoproliferative syndrome 1 1
Lynch syndrome II 1
MAP2K1-Related Disorder 1
MATR3-Related Disorder 1
MECP2-Related Disorder 1
MED13L-Related Disorder 1
MEF2C-Related Disorder 1
MEIS2-related disorder 1
MPDU1-CDG 1
MPI-CDG 1
MSL3-Related Disorder 1
MYH-associated polyposis 1
MYH2-related myopathy 1
MYH7-Related Disorders 1
MYH9-related disorder 1
MYO7A-related disorder 1
MYOM1-related disorder 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1
Malignant hyperthermia susceptibility 1
Malignant hyperthermia, susceptibility to, 1; Multiminicore Disease; Centronuclear myopathy; Congenital fiber-type disproportion 1
Mannose-binding protein deficiency 1
Maple syrup urine disease type 1B 1
Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome; Ectopia lentis; Familial thoracic aortic aneurysm 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 1
Maturity-onset diabetes of the young type 4 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1
Meier-Gorlin syndrome 1 1
Meier-Gorlin syndrome 4 1
Mental retardation, X-linked 1 1
Mental retardation, X-linked 98 1
Mental retardation, X-linked 99 1
Mental retardation, autosomal dominant 1 1
Mental retardation, autosomal dominant 4 1
Mental retardation, autosomal dominant 57 1
Mental retardation, autosomal dominant 6 1
Mental retardation, autosomal recessive 1 1
Mental retardation, autosomal recessive 13 1
Mental retardation, autosomal recessive 18 1
Mental retardation, autosomal recessive 5 1
Mercaptolactate-cysteine disulfiduria 1
Microcephalic osteodysplastic primordial dwarfism type II 1
Microcephaly and chorioretinopathy, autosomal recessive, 1 1
Mitochondrial DNA depletion syndrome 11 1
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 1
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 1
Mitochondrial complex 1 deficiency, nuclear type 5 1
Mitochondrial complex I deficiency; Leigh syndrome 1
Mitochondrial complex IV deficiency 1
Mitochondrial-DNA disorder 1
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 1
Mucopolysaccharidosis type 1 1
Mucopolysaccharidosis, MPS-IV-B 1
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 1
Multiple congenital anomalies 1
Multiple exostoses type 2 1
Muscle AMP deaminase deficiency 1
Myasthenic syndrome, congenital, 8 1
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 1
Myhre syndrome 1
Myoclonic encephalopathy 1
Myoclonic-atonic epilepsy 1
Myofibrillar myopathy, filamin C-related 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 1
Myopathy with postural muscle atrophy, X-linked 1
Myopathy, centronuclear, 2 1
NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES 1
NFIA-related disorders 1
NOTCH1-Related Disorders 1
NRXN-Related Disorder 1
Nemaline myopathy 1
Nemaline myopathy 2 1
Neonatal intrahepatic cholestasis caused by citrin deficiency 1
Neoplasm of brain 1
Neoplasm of head and neck 1
Neoplasm of stomach 1
Nephrogenic diabetes insipidus, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 1
Netherton syndrome 1
Neuroblastoma 1
Neurodegeneration with brain iron accumulation 1
Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive 1
Neurodegeneration with brain iron accumulation 5 1
Neurodegeneration with brain iron accumulation 6 1
Neurodegeneration with brain iron accumulation 8 1
Neurodevelopmental and congenital anomalies 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 1
Neuronal ceroid lipofuscinosis 1 1
Neuronal ceroid lipofuscinosis 5 1
Neuronal ceroid lipofuscinosis 8 1
Neuropathy, hereditary sensory and autonomic, type VII 1
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 1
Nicolaides-Baraitser syndrome; Coffin-Siris syndrome 1
Niemann-Pick disease type C1 1
Niemann-Pick disease, type C2 1
Non-syndromic intellectual disability 1
Nonsyndromic Hearing Loss, Recessive 1
Nonsyndromic hearing loss and deafness 1
Noonan syndrome 1
Noonan syndrome 10 1
Noonan syndrome 3 1
Noonan syndrome 6 1
Noonan syndrome 8 1
Noonan syndrome-like disorder with loose anagen hair 1 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 1
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 1
Obesity 1
Oligodendroglioma 1
Optic atrophy 1
Osteocraniostenosis; Kenny-Caffey syndrome type 2 1
Osteogenesis imperfecta 1
Osteogenesis imperfecta type 7 1
Osteogenesis imperfecta type 8 1
Osteogenesis imperfecta type I 1
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, procollagen proteinase deficient 1
Osteoporosis with pseudoglioma 1
Osteosarcoma 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 1
PEHO syndrome 1
PHIP-Related Disorder 1
PHIP-Related disorders 1
PINK1-Related Parkinsonism 1
PLOD3-Related Disorder 1
POLG- Related Disorder 1
POLR3B-Related Disorder 1
PPP2R1A-related disorder 1
PPP2R2B-Related Disorder 1
Palmoplantar keratoderma-esophageal carcinoma syndrome 1
Pancreatic agenesis and congenital heart disease 1
Pancreatitis 1
Papillary thyroid carcinoma 1
Parkinson disease 6, autosomal recessive early-onset 1
Partial androgen insensitivity syndrome 1
Periodic fever syndrome 1
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Maturity-onset diabetes of the young, type 2 1
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 1
Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorder 8B 1
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 1
Peutz-Jeghers syndrome 1
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 1
Pituitary hormone deficiency, combined, 1 1
Platyspondylic dysplasia, Torrance type 1
Poikiloderma with neutropenia 1
Polycystic kidney disease 2 1
Polycythemia vera 1
Polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3 1
Polyglandular autoimmune syndrome, type 1 1
Polymerase proofreading associated polyposis 1
Pontocerebellar hypoplasia type 1A 1
Pontocerebellar hypoplasia, type 1c 1
Premature ovarian failure 1 1
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome 1
Primary dilated cardiomyopathy; Familial hypertrophic cardiomyopathy 1; Myosin storage myopathy; MYH7-related late-onset scapuloperoneal muscular dystrophy; Left ventricular noncompaction 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1
Primary hyperoxaluria, type II 1
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Myoclonic epilepsy myopathy sensory ataxia; Mitochondrial DNA depletion syndrome 4B, MNGIE type; Progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Propionic acidemia 1
Pustular psoriasis, generalized 1
Pyruvate carboxylase deficiency 1
Pyruvate dehydrogenase E3-binding protein deficiency 1
Qualitative or quantitative defects of dysferlin 1
RTEL1-related Disorders 1
Radial aplasia-thrombocytopenia syndrome 1
Refractory anemia with ringed sideroblasts (clinical) 1
Renal coloboma syndrome 1
Renier-Gabreels-Jasper syndrome 1
Retinitis pigmentosa 31 1
Rett syndrome 1
Rett syndrome, congenital variant 1
Rh-null, regulator type 1
Rhizomelic chondrodysplasia punctata type 1 1
Rubinstein-Taybi syndrome 1 1
Russell-Silver syndrome 1
SATB2-Related Disorder 1
SCN10A-Related Disorder 1
SCN1B-Related Disorder 1
SCN3A- Related Disorder 1
SCN4A-related disorder 1
SCN8A-related disorder 1
SETBP1-Related Disorder 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 1
SLC6A2-related disorder 1
SMAD3-Related Disorder 1
SMS-Related Disorder 1
SOX2-Related Disorder 1
SQSTM1-related disorder 1
STAG1-Related Disorders 1
STAT1-Related Disorder 1
STRA6-Related Disorder 1
Sandhoff disease 1
Schaaf-Yang syndrome 1
Schizophrenia 1
Schizophrenia; Autism spectrum disorder; Intellectual disability 1
Schuurs-hoeijmakers syndrome 1
Seckel syndrome 5; Primary autosomal recessive microcephaly 9 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 1
Seizures; Intellectual disability; Developmental delay 1
Severe combined immunodeficiency disease 1
Severe myoclonic epilepsy in infancy; Seizure disorder 1
Short stature, developmental delay, and congenital heart defects 1
Short stature, idiopathic, X-linked 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 1
Sick sinus syndrome 1
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 1
Sjögren-Larsson syndrome 1
Smith-Kingsmore syndrome 1
Smith-Magenis syndrome 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 1
Spastic paraplegia 44, autosomal recessive 1
Spastic paraplegia 46, autosomal recessive 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1
Spherocytosis type 4; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, with hemolytic anemia 1
Spinal muscular atrophy 1
Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber disease 1
Spinocerebellar ataxia 42 1
Spinocerebellar ataxia 47 1
Spinocerebellar ataxia type 26 1
Spinocerebellar ataxia type 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16 1
Spinocerebellar ataxia, autosomal recessive 12 1
Spondylometaphyseal dysplasia, megarbane-dagher-melki type 1
Stankiewicz-Isidor syndrome 1
Stargardt disease; Cone-rod dystrophy 1
Stormorken syndrome 1
Subacute lymphoid leukemia 1
Susceptibility to severe cutaneous adverse reaction 1
Syndromic X-linked intellectual disability Siderius type 1
Syndromic X-linked intellectual disability Turner type 1
TANGO2-Related disorder 1
TERT-associated disorder 1
TLK2-Related Disorder 1
TRAF7-Related Disorder 1
TSC2-Related Disorder 1
TTN-Related disorder 1
Tay-Sachs disease 1
Thiamine-responsive megaloblastic anemia 1
Tooth agenesis, selective, X-linked, 1 1
Trabecular adenocarcinoma 1
Transposition of the great arteries, dextro-looped 1 1
Treacher Collins syndrome 1 1
Tuberous sclerosis 1 1
Turcot syndrome 1
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 1
Turcot syndrome; Lynch syndrome 1
UBTF-Related Disorder 1
USP9X related disorders 1
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 1
Undetermined early-onset epileptic encephalopathy 1
Usher syndrome type 1 1
Verheij syndrome 1
Visceral heterotaxy 5, autosomal 1
Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic deafness 17 1
Werner syndrome 1
West syndrome 1
Wieacker-Wolff, X-linked recessive 1
X-linked intellectual disability syndrome 1
X-linked intellectual disability-hypotonic face syndrome 1
alpha Thalassemia 1
beta Thalassemia 1
mtDNA-related disorders 1

Breakdown by gene #

Total genes and gene combinations: 1784
Download table as spreadsheet
Gene Variants
BRCA1 4189
TSC2 1646
TSC1 583
PAH 537
ABCA4 524
SCN5A 458
KCNH2 417
RYR1 384
VWF 383
CFTR 381
KCNQ1 342
BRCA2 308
LMNA 292
PSAT1 224
MEFV 169
PSEN1 141
TTN 134
BEST1 121
KRT5 121
NLRP3 111
CDKL5, RS1 110
LOC102724058, SCN1A 106
TYR 105
RPGR 104
SLC22A5 104
GFAP 103
NOD2 101
KRT14 99
RPE65 98
KMT2D 96
MECP2 96
NF1 96
MVK 90
PRPH2 89
TNFRSF1A 87
GRN 86
LDLR 86
SCN1A 86
GUCY2D 84
KMT2C 84
NOTCH1 71
NCR1, NLRP7 70
NLRC5 68
DPYD 66
TP53 65
ARSA 62
KRT1 62
CRB1 61
CYBB 61
MAPT 61
APC 58
RECQL4 56
DES 55
NLRP7 54
ZMPSTE24 54
ASB10 52
ATM 50
CAV3 50
KCNJ2 49
MYPN 48
FANCA 47
WRN 46
CHRNA4 45
SETD2 45
CFTR, LOC111674472 44
GPR143 44
BIVM-ERCC5, ERCC5 43
CACNA1A 43
NEFL 43
TET2 43
F11 42
SRD5A2 42
ERBB2 41
​intergenic 40
MLH1 40
CRX 38
EP300 38
ERCC2 38
PMS2 38
KRT6A 37
NLRC3 37
ALK 36
KCNE1 36
ANO5 35
CHEK2 35
MET 35
MSH2 35
OCRL 35
ADAMTS13 33
ECT2L 33
KRT10 33
LOC110121269, SCN5A 33
TNFRSF14 33
AIPL1 32
NLRP5 32
NLRP6 32
SLC37A4 32
TPM1 32
CDKL5 31
CIC 31
EGFR 31
ERCC4 31
HNF1A 31
BLM 30
CREBBP 30
GRIN2A 30
NBN 30
NOTCH2 30
XPC 30
GRM6, LOC100130798 29
NLRX1 29
PPP1R9B 29
NOD1 28
SMARCA2 28
ADA 27
ASXL1 27
BRIP1 27
CEP290 27
CIITA 27
GNAS 27
KRT9 27
PDGFRA 27
JAK3 26
MMUT 26
MSH6 26
PALB2 26
PTCH1 26
TPP1 26
CDH1 25
FGFR3 25
KRT8 25
MPL 25
ATM, C11orf65 24
ATRX 24
NLRP2 24
PRPH, TROAP 24
RET 24
SMARCA4 24
ANK2 23
APP 23
CARD11 23
DKC1 23
KDR 23
TPM2 23
DPYS 22
FLT3 22
IFNGR2 22
KRT17 22
PMS1 22
RPGRIP1 22
ABL1 21
BRAF 21
FLCN 21
KRT12 21
MUTYH 21
NEFH 21
NLRP1 21
BCOR 20
BNC2 20
BUB1B 20
CAV3, SSUH2 20
DISC1, TSNAX-DISC1 20
GLB1 20
IL7R 20
INS, INS-IGF2 20
NLRC4 20
NOTCH3 20
NRG1 20
NYX 20
RAG1 20
RS1 20
SERPINC1 20
ALB 19
AMER1 19
CDKN2A 19
IFNGR1 19
KCNE2 19
KRT16 19
MRE11 19
TNFAIP3 19
ARID2 18
EXT2 18
PRDM1 18
RAD52 18
SERPING1 18
SLC27A4 18
CBL 17
CDK12 17
CFTR, LOC111674475 17
DUSP29, KAT6B 17
GRM6 17
INSL6, JAK2 17
MYL2 17
NCF2 17
NLRP13 17
NLRP4 17
TPM3 17
AIRE 16
CBLB 16
DICER1 16
FANCE 16
GRIN2B 16
NLRP12 16
PTPN5 16
SMO 16
TULP1 16
ATP7B 15
FANCA, ZNF276 15
GATM 15
KRAS 15
MYL3 15
NLRP11 15
RB1 15
KRT2 14
NEFM 14
NLRP14 14
NLRP8 14
PRKCG 14
ARID1A 13
CARD14 13
DAG1 13
ERCC3 13
FANCD2, LOC107303338 13
KIT 13
KRT18, LOC106096416 13
PSEN2 13
RAD50 13
TSHR 13
KLF6 12
NFE2L2 12
SMAD4 12
SRC 12
UPB1 12
AOPEP, FANCC 11
CACNA1C 11
EZH2 11
FANCF 11
FANCG 11
GRIN1 11
ITGB2 11
PAX2 11
PIK3CA 11
PTPN11 11
SMARCB1 11
USH2A 11
ABCC1 10
CHMP2B 10
COL3A1 10
FANCC 10
FGFR2 10
FH 10
FLT1 10
IKBKG 10
KRT86 10
MYBPC3 10
SGCD 10
SLC6A8 10
TNNT1 10
TNNT3 10
ACTG1 9
CLN6 9
DNMT3A 9
FBN1 9
IDH1 9
IFNGR2, TMEM50B 9
JAK1 9
KDM5C 9
LAMA2 9
LRP5 9
MEN1 9
MLC1 9
MTOR 9
NLRP9 9
PAX5 9
PDCD10 9
PKD1 9
POLG 9
SLC27A3 9
B3GALNT2 8
BCL6, LOC100131635 8
CCM2 8
CDH23 8
H19, H19-ICR, MRPL23 8
IFNG 8
KDM6A 8
LPIN2 8
MT-ATP6 8
NF2 8
NLRP10 8
PBRM1 8
PTEN 8
SUFU 8
TENT5C 8
TNNI2 8
UMPS 8
WAS 8
ADGRV1 7
ALMS1 7
ARHGAP26 7
BAP1 7
BMPR1A 7
CD79A 7
CFTR, LOC113664106 7
COL5A1 7
CYLD 7
DMD 7
ERCC8 7
FBXW7 7
FUBP1 7
GATA3 7
KRT19 7
MYOZ2 7
PPIB 7
SDHD 7
SEMA3A 7
SLC46A1 7
XPA 7
A2ML1 6
COL11A2 6
COL1A2 6
CPS1 6
CYBA 6
CYP11B1, LOC106799833 6
DDR2 6
ERCC1 6
EXT1 6
FREM1 6
FYN 6
HMCN1 6
HRAS, LRRC56 6
KRT13 6
KRT18, KRT8, LOC106096416 6
MED12 6
MIR3936HG, SLC22A5 6
PPP2R1A 6
SDHB 6
STK11 6
TLR1 6
TLR6 6
VPS13B 6
WDR11 6
ABCA3 5
AICDA 5
ARHGAP10 5
BEST1, FTH1 5
C1QTNF5, MFRP 5
CCBE1 5
CFHR5 5
CNGB1 5
COL5A2 5
CRLF2 5
CSRP3 5
CTNNB1 5
DAOA 5
DNM2 5
DSC2, DSCAS 5
DTNBP1 5
FABP3 5
FANCD2, FANCD2OS 5
FAS 5
FBXO11 5
GAMT 5
GATA2 5
LOC100507346, PTCH1 5
LOC114827850, MYL2 5
NAGS 5
PDLIM3 5
PKD1, TSC2 5
PKHD1 5
RYR3 5
SCN2A 5
SLC40A1 5
SOCS1 5
SOS1 5
WT1 5
ACTB 4
ASXL3 4
CASK 4
COL6A2 4
COL7A1 4
CYP1B1 4
DDB2 4
DOCK8 4
DSG2 4
FANCG, VCP 4
FLNA 4
GLA, RPL36A-HNRNPH2 4
GPC3 4
GPR179 4
HTRA1 4
IL1RN 4
IRF6 4
KCNQ1, KCNQ1OT1 4
LAMA4 4
LMNB1 4
LMNB2 4
LTBP4 4
MAP2K1 4
MAP2K2 4
MEF2C 4
MTHFR 4
MYD88 4
MYH11 4
MYH7 4
NPM1 4
NUCB2 4
PCDH15 4
POLE 4
PPIB, SNX22 4
PPP1R1B 4
PYGM 4
RAB7A 4
RAF1 4
RHD, RSRP1 4
RYR2 4
SACS 4
SMAD3 4
SPAST 4
STRC 4
STXBP1 4
TERT 4
VHL 4
ZRSR2 4
ACADS 3
ACO2 3
AKT1 3
AMELX, ARHGAP6 3
APOE 3
B4GALT7 3
BTD 3
CACHD1 3
CACNA1G 3
CACNA1H 3
CARD14, SGSH 3
CBLIF 3
CBS 3
CD79B, GH-LCR 3
CDC73 3
CDK4 3
CEP128, TSHR 3
CHD2 3
CHST14 3
CNTNAP2 3
COL1A1 3
COL2A1 3
CYP17A1 3
DARS2 3
DHCR7 3
DISC1, LINC00582, TSNAX-DISC1 3
DPM3 3
DYSF 3
EARS2 3
EFHC1 3
ENO3 3
ERBB4 3
FABP5 3
FAM83H 3
FBN2 3
FIP1L1 3
GALT 3
GLYCTK 3
GNPTAB 3
HAX1 3
HSPB1 3
KAT6B 3
KCNK12, MSH2 3
KIF1A 3
KNG1 3
KRIT1 3
KRT3 3
KRT6B 3
KRT6C 3
KRT74 3
KRT81, KRT86 3
LOC107303340, VHL 3
LOXHD1 3
LPL 3
LRAT 3
LRP1 3
LRP2 3
LZTR1 3
MERTK 3
MMACHC 3
MT-CYB 3
MT-TT 3
MTUS1 3
MYH6 3
MYH9 3
MYO7A 3
NKAIN2 3
NRAS 3
OPA1 3
OTOGL 3
PCBD1 3
PDE6B 3
PFKM 3
PHOX2B 3
PIGT 3
PIK3R1 3
POLD1 3
PPP1CA 3
PPP1CB 3
PPP1CC 3
PRKG1 3
PROM1 3
PSTPIP1 3
PYCR1 3
SARM1, SLC46A1 3
SCN8A 3
SDHC 3
SERPINA1 3
SERPINF1 3
SETBP1 3
SLC2A1 3
SLC6A1 3
SPG7 3
SZT2 3
TECPR2 3
TGFB2 3
TLR2 3
TLR4 3
TRPV3 3
WNT10A 3
ZDHHC3 3
AADAC, AADACL2 2
ABCB1 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 2
ABCC4 2
ABCC6 2
ABCC8 2
ABCC9 2
ACACB 2
ACADM 2
ACE 2
ACP5, ANGPTL8, AP1M2, ATG4D, C19orf38, CARM1, CCDC159, CDKN2D, CNN1, DHPS, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FBXW9, ILF3, KANK2, KRI1, LDLR, MAN2B1, MIR199A1, ODAD3, PRKCSH, QTRT1, RAB3D, RGL3, SLC44A2, SMARCA4, SPC24, SWSAP1, TIMM29, TMED1, TMEM205, TNPO2, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 2
ACTN2 2
ACVRL1 2
ADA, LOC107303343 2
AHDC1 2
ALDH5A1 2
ALOX5 2
ALOXE3 2
ALPL 2
AMN 2
ANKRD11 2
AP4S1 2
APEX1 2
AQP2, AQP5 2
AR 2
ARID1B 2
ARMS2 2
ATP13A2 2
ATP6V0E2, C7orf33, CNTNAP2, CUL1, EZH2, KRBA1, LOC100134040, PDIA4, RNY1, RNY3, RNY4, RNY5, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF777, ZNF783, ZNF786, ZNF862 2
AVPR2 2
BARD1 2
BBS1 2
BBS12 2
BCR 2
BFSP2 2
C12orf43, HNF1A 2
C19orf12 2
C3orf20 2
CA4 2
CACNA1F 2
CACNA2D3 2
CACNA2D4 2
CAMSAP1 2
CAMTA1 2
CAPN3 2
CBX2 2
CCDC3, LOC107275223 2
CDK4, TSPAN31 2
CDK5RAP2 2
CEBPA 2
CFHR4 2
CFTR, LOC111674477 2
CHD3 2
CHD7 2
CHN1 2
CHRNA7 2
CNGB3 2
CNOT1 2
CNOT2 2
CNTN5 2
COL12A1 2
COL4A1 2
COL5A1, LOC101448202 2
COL6A1 2
CPOX 2
CPT2 2
CTNNA3 2
CUBN 2
CYP11B1 2
CYP26B1 2
DCTN1 2
DDOST 2
DDX11 2
DDX3X 2
DEPDC5 2
DLG3 2
DSP 2
DVL1 2
DYNC1H1 2
DYNC2H1 2
EIF2B2 2
ELP2 2
ELP3 2
EMC1 2
ENPP1 2
EPS8 2
ETHE1 2
FANCA, LOC112486223 2
FANCD2 2
FANCM 2
FASN 2
FERMT1 2
FGF12 2
FLG 2
FLNC 2
FOXL2 2
FOXRED1 2
FRG1 2
GABRB2 2
GALC 2
GATA1 2
GATAD2B 2
GBE1 2
GFER 2
GJB2 2
GLB1, TMPPE 2
GNB5 2
GNL2 2
GNPTG 2
GOLGA6L6 2
GOLPH3, PDZD2 2
GOSR2, LRRC37A2 2
GP1BA 2
GRIA1 2
GRM5 2
GTPBP3 2
GYS1 2
H19-ICR, MRPL23 2
HBB, LOC107133510, LOC110006319 2
HFE 2
HIF1A, PRKCH, SNAPC1, SYT16, TMEM30B 2
HNF4A 2
HPN 2
HSPB8 2
HUWE1 2
IDUA 2
IGF1R 2
IGH, IGHD3-3, IGHV3-23 2
IGH, IGHM 2
IMMP2L 2
ITGA7 2
KCNE1, KCNE2, RCAN1, SMIM11A 2
KCNQ2 2
KCNV2 2
KDM5B 2
KIF26B 2
KLF8 2
KLK3 2
KRBA1 2
KRT4 2
KRT83 2
LAMA1 2
LDB3 2
LINC01237, LINC01238, LINC01880, LINC01881, LOC285097 2
LINC01237, LINC01880, LINC01881, LOC285097 2
LINC02055 2
LMBRD1 2
LOC100996842, MPDU1 2
LOC101927055, TTN 2
LOC116268429, LOC116268430, LOC116268431, SLC2A14, SLC2A3 2
LOC730100 2
LRRK1 2
LRSAM1 2
MARS1 2
MBD5 2
MC1R 2
MECR 2
MED13L 2
MGAM 2
MKKS 2
MPV17 2
MPZ 2
MRPL44 2
MSL3 2
MSRB3 2
MT-ND1 2
MT-ND2 2
MT-ND4 2
MT-ND5 2
MT-ND6 2
MT-RNR1 2
MT-TH 2
MT-TI 2
MT-TW 2
MUC6 2
MYH14 2
NEBL 2
NLGN1 2
NRXN1 2
OBI1, POU4F1 2
OCA2 2
OTOG 2
PAX6 2
PDE6A 2
PHEX 2
PHF6 2
PHIP 2
PIEZO2 2
PIGO 2
PINK1 2
PLA2G7 2
PLEC 2
PLEKHG5 2
PNPLA1 2
POMT2 2
PRKAR1A 2
PRMT7 2
PTCHD1 2
PTPRQ 2
QRFPR 2
RAD50, TH2-LCR, TH2LCRR 2
RAD51C 2
RAD51D, RAD51L3-RFFL 2
RBMX 2
REV1 2
RHCE 2
RHO 2
RP1 2
RTTN 2
SARS2 2
SCAPER 2
SCN11A 2
SCN1B 2
SDK1 2
SEPTIN12 2
SF3B1 2
SHANK3 2
SKIV2L 2
SLC26A5 2
SLC4A1 2
SMAD2 2
SPANXA1, SPANXA2 2
SPG11 2
SPTBN2 2
STAG1 2
STAT1 2
SYNE1 2
TACR3 2
TBC1D24 2
TBL1XR1 2
TCF12 2
TCN2 2
TGFBR2 2
TLK2 2
TMC1 2
TMEM72 2
TNNI3, TNNT1 2
TRIOBP 2
TSPEAR 2
TUBA1A 2
TUBB4A 2
UNC80 2
USP9X 2
VAPB 2
WDR45 2
WFS1 2
XPO1 2
ZFHX4 2
ZNF335 2
ZNF469 2
ZNF595 2
ZNF746 2
ZSWIM6 2
AARS1 1
AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, AGRP, ANKRD11, AP1G1, APRT, ATMIN, ATP2C2, ATP6V0D1, ATXN1L, B3GNT9, BANP, BCAR1, BCO1, BEAN1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, CA5A, CA7, CALB2, CARMIL2, CBFA2T3, CBFB, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, COX4I1, CPNE7, CRISPLD2, CTCF, CTRB1, CTRB2, CTRL, CTU2, CYB5B, CYBA, DBNDD1, DDX19A, DDX19B, DDX28, DEF8, DHODH, DHX38, DNAAF1, DPEP1, DPEP2, DPEP3, DUS2, DYNC1LI2, DYNLRB2, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FOXC2, FOXF1, FOXL1, GABARAPL2, GALNS, GAN, GAS8, GCSH, GFOD2, GINS2, GLG1, GSE1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KCTD19, KIAA0513, KIAA0895L, KLHDC4, KLHL36, LCAT, LDHD, LINC01082, LOC101927817, LOC101928417, LOC400541, LOC654780, LRRC29, LRRC36, MAF, MAP1LC3B, MARVELD3, MBTPS1, MC1R, MEAK7, MIR140, MIR328, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NRN1L, NUDT7, NUTF2, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRDM7, PRMT7, PSKH1, PSMB10, PSMD7, RANBP10, RFWD3, RIPOR1, RNF166, RPL13, RRAD, SDR42E1, SF3B3, SLC12A4, SLC22A31, SLC38A8, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TSNAXIP1, TUBB3, TXNL4B, USP10, UTP4, VAC14, VAT1L, VPS4A, VPS9D1, WDR59, WFDC1, WWOX, WWP2, ZC3H18, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 1
ABAT 1
ABCB4 1
ABCB6 1
ABCB7 1
ABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ARHGEF35, ARHGEF5, ASB10, ASIC3, ATG9B, ATP6V0E2, C7orf33, CDK5, CHPF2, CNPY1, CNTNAP2, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CUL1, EN2, EZH2, FASTK, GALNT11, GALNTL5, GBX1, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, HTR5A, INSIG1, KCNH2, KMT2C, KRBA1, LMBR1, LOC100134040, LRRC61, MIR671, MNX1, NOBOX, NOM1, NOS3, NUB1, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, PAXIP1, PDIA4, PRKAG2, RARRES2, RBM33, REPIN1, RHEB, RNF32, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, TAS2R41, TAS2R60, TCAF1, TCAF2, TMEM176A, TMEM176B, TMUB1, TPK1, WDR86, XRCC2, ZBED6CL, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF777, ZNF783, ZNF786, ZNF862 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, XYLT1 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MYH11, NDE1, NOMO3, XYLT1 1
ABCD3, F3, MIR12133, SLC44A3 1
ABCD4 1
ABCG2 1
ABHD11 1
ABHD13, ADPRHL1, ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, ATP4B, CARS2, CDC16, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GRTP1, ING1, IRS2, LAMP1, LIG4, LINC00565, LINC00567, MCF2L, MYO16, NALF1, NAXD, PCID2, PROZ, RAB20, RASA3, SOX1, SPACA7, TEX29, TFDP1, TMCO3, TMEM255B, TNFSF13B, TUBGCP3, UPF3A 1
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP4S1, APEX1, ARHGAP5, ARHGEF40, BAZ1A, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf93, CARMIL3, CBLN3, CCNB1IP1, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGLN3, EMC9, FAM177A1, FBXO33, FITM1, FOXA1, FOXG1, G2E3, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHL33, LRFN5, LRP10, LTB4R, LTB4R2, MBIP, MDP1, METTL17, METTL3, MIA2, MIPOL1, MIR208A, MIR208B, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-8, NOP9, NOVA1, NPAS3, NRL, NUBPL, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PAX9, PCK2, PIP4P1, PNN, PNP, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRORP, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, RPPH1, SALL2, SCFD1, SDR39U1, SEC23A, SFTA3, SLC22A17, SLC25A21, SLC39A2, SLC7A7, SLC7A8, SNX6, SPTSSA, SRP54, SSTR1, STRN3, STXBP6, SUPT16H, TEP1, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOX4, TPPP2, TRA, TRAPPC6B, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSSK4, TTC5, TTC6, ZFHX2, ZNF219 1
ABL1, LOC107980440 1
ABR, BHLHA9, TRARG1 1
ABRACL, ARFGEF3, BCLAF1, CCDC28A, CITED2, ECT2L, HEBP2, HECA, IFNGR1, IL20RA, IL22RA2, LINC02539, MAP3K5, MAP7, MTFR2, NHSL1, OLIG3, PBOV1, PDE7B, PERP, PEX7, REPS1, SLC35D3, TNFAIP3, TXLNB 1
ACAD8 1
ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf141, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAI4, DNAJB4, DNASE2B, DYNLT5, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, HS2ST1, IFI44, IFI44L, IL12RB2, IL23R, INSL5, LEPR, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIER1, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PDE4B, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SELENOF, SERBP1, SGIP1, SH3GLB1, SLC35D1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TNNI3K, TTLL7, TYW3, USP33, WLS, ZNHIT6, ZRANB2, ZZZ3 1
ACAP2, ATP13A3, FAM43A, LSG1, TMEM44, XXYLT1 1
ACBD6, LHX4 1
ACD 1
ACKR3 1
ACOT2 1
ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, BAX, BCAT2, BCL2L12, BICRA, BSPH1, C19orf73, C19orf81, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CD33, CD37, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CPT1C, CRX, CTU1, CYTH2, DBP, DHDH, DKKL1, DPRX, EHD2, ELSPBP1, EMC10, EMP3, ERVV-1, ERVV-2, ETFB, FAM71E1, FAM83E, FCGRT, FGF21, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GPR32, GRIN2D, GRWD1, GYS1, HAS1, HRC, HSD17B14, IGLON5, IL4I1, IRF3, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KPTN, LHB, LIG1, LIM2, LIN7B, LMTK3, LRRC4B, MAMSTR, MED25, MIR125A, MIR150, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MYADM, MYBPC2, MYH14, NAPA, NAPSA, NDUFA3, NKG7, NLRP12, NOP53, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUP62, ODAD1, OSCAR, PIH1D1, PLA2G4C, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R15A, PPP2R1A, PRKCG, PRMT1, PRPF31, PRR12, PRRG2, PTH2, PTOV1, RASIP1, RCN3, RPL13A, RPL18, RPS11, RRAS, RUVBL2, SCAF1, SELENOW, SHANK1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC6A16, SLC8A2, SNRNP70, SPACA4, SPHK2, SPIB, SULT2A1, SULT2B1, SYNGR4, SYT3, TARM1, TBC1D17, TEAD2, TFPT, TMEM143, TPRX1, TRPM4, TSKS, TULP2, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, ZNF114, ZNF160, ZNF175, ZNF28, ZNF320, ZNF331, ZNF347, ZNF350, ZNF415, ZNF432, ZNF468, ZNF473, ZNF480, ZNF528, ZNF534, ZNF541, ZNF577, ZNF578, ZNF600, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF665, ZNF677, ZNF701, ZNF761, ZNF765, ZNF766, ZNF808, ZNF813, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF836, ZNF841, ZNF845, ZNF880, ZNF888, ZSWIM9 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101927817, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZCCHC14-DT, ZFPM1, ZNF469, ZNF778 1
ACSF3, APRT, CBFA2T3, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469 1
ACSL3 1
ACSM5 1
ACTG2 1
ACVR2A, MBD5, ORC4 1
ACY3, ALDH3B2, NDUFV1, NDUFV1-DT, NUDT8, TBX10 1
ACYP1, NPC2 1
ADAM28, ADAM7, ADAMDEC1, ADRA1A, ASAH1, ATP6V1B2, BIN3, BMP1, BNIP3L, C8orf58, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, CNOT7, CSGALNACT1, DCTN6, DMTN, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ESCO2, EXTL3, FBXO16, FGF17, FGL1, FHIP2B, FZD3, GFRA2, GNRH1, GSR, GTF2E2, HMBOX1, HR, INTS10, INTS9, KCTD9, KIF13B, LEPROTL1, LGI3, LOC101929066, LOXL2, LPL, LZTS1, MBOAT4, MIR320A, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NRG1, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, PNMA2, PNOC, POLR3D, PPP2CB, PPP2R2A, PPP3CC, PSD3, PTK2B, PURG, R3HCC1, RBPMS, REEP4, RHOBTB2, SARAF, SCARA3, SCARA5, SFTPC, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SMIM18, SORBS3, STC1, STMN4, TEX15, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRIM35, UBXN8, VPS37A, WRN, XPO7, ZDHHC2, ZNF395 1
ADAMTS9 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, FAM228A, FAM228B, FKBP1B, ITSN2, MFSD2B, NCOA1, PFN4, POMC, PTRHD1, SF3B6, TP53I3, WDCP 1
ADGRB1 1
ADGRE2 1
ADGRG7, TFG 1
ADH4, LOC100507053 1
ADIPOR1, ADORA1, ARL8A, ASCL5, ASPM, ATP2B4, ATP6V1G3, AVPR1B, BTG2, C1orf116, C1orf147, C1orf53, C1orf74, C4BPA, C4BPB, CACNA1S, CAMK1G, CAMSAP2, CD34, CD46, CD55, CDK18, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CRB1, CSRP1, CTSE, CYB5R1, DDX59, DENND1B, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, F13B, FAM72A, FCAMR, FCMR, FMOD, G0S2, GOLT1A, GPR25, GPR37L1, HHAT, HSD11B1, IGFN1, IKBKE, IL10, IL19, IL20, IL24, INAVA, IPO9, IRF6, KCNH1, KCNT2, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAMB3, LAX1, LEMD1, LGR6, LHX9, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR181A1, MIR181B1, MIR205, MIR205HG, MIR29B2CHG, MIR29C, MYBPH, MYOG, NAV1, NEK7, NFASC, NR5A2, NUAK2, NUCKS1, OPTC, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, PTPRC, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SERTAD4, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT14, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, TRAF3IP3, UBE2T, UTP25, YOD1, ZBED6, ZBTB41, ZC3H11A, ZNF281 1
ADNP 1
ADORA2A, CRYBB2, CRYBB3, GGT1, GRK3, GUCD1, KIAA1671, LRRC75B, PIWIL3, SGSM1, SNRPD3, SPECC1L, TMEM211, UPB1 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, IMP3, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NEO1, NPTN, ODF3L1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, ULK3 1
AGAP10, AGAP4, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WDFY4, ZNF488 1
AGAP10, AGAP4, ANXA8L1, FAM25E, GPRIN2, NPY4R, SYT15, WASHC2C 1
AGAP10, ANXA8L1, NPY4R 1
AGBL4, AGBL4-IT1 1
AGL 1
AGO1 1
AGO2, CHRAC1, TRAPPC9 1
AGPAT4, MAP3K4 1
AGRN 1
AGTPBP1 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, C1orf194, CELSR2, CLCC1, CSF1, CYB561D1, ELAPOR1, EPS8L3, FAM102B, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, LAMTOR5, MIR197, MYBPHL, NBPF6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, WDR47 1
AHNAK2 1
AIMP1 1
AKAP12 1
AKR1C3 1
AKR1C4 1
AKT3 1
ALDH18A1 1
ALDH1B1 1
ALDH3A2 1
ALDOB 1
ALG11, ATP7B, CCDC70, CKAP2, CNMD, DHRS12, FAM124A, HNRNPA1L2, INTS6, LINC00558, NEK3, NEK5, OLFM4, PCDH8, SERPINE3, SUGT1, THSD1, UTP14C, VPS36, WDFY2 1
ALG2 1
ALKAL1, RB1CC1 1
ALOX5AP 1
AMPD1 1
AMPH, CDK13, MPLKIP, POU6F2, RALA, SUGCT, VPS41, YAE1 1
AMY1A, AMY2A 1
ANAPC4, PI4K2B, SEPSECS, ZCCHC4 1
ANKRD1 1
ANKRD26 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1
ANKRD36C 1
ANKS1B 1
ANLN 1
ANO9, PKP3, SIGIRR 1
ANTXR2 1
AOC1 1
AP2B1 1
APBA1 1
APBA2, FAM189A1, GOLGA8J, GOLGA8M, NSMCE3, TJP1 1
APIP, PDHX 1
APLNR, BTBD18, CLP1, LRRC55, MED19, MIR130A, OR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AK2, OR5AP2, OR5AR1, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, SSRP1, TIMM10, TMX2, TNKS1BP1, TRIM48, TRIM51, UBE2L6, YPEL4, ZDHHC5 1
APOB 1
APOBEC3D, APOBEC3F 1
APOBR, AQP8, ARHGAP17, ATP2A1, ATXN2L, BOLA2, C16orf82, CACNG3, CD19, CDR2, CHP2, CLN3, COG7, CRYM, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, METTL9, MOSMO, NDUFAB1, NFATC2IP, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SLX1B, SPNS1, SULT1A1, SULT1A2, SULT1A4, TNRC6A, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2 1
ARAF 1
ARFGEF2 1
ARG1, MED23 1
ARHGAP11B, ARHGAP11B-DT, CHRFAM7A, GOLGA8H, GOLGA8J, GOLGA8Q, GOLGA8R, GOLGA8T, LINC02249, LOC100996413, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736480, LOC106783506 1
ARHGAP24 1
ARHGAP8, PRR5-ARHGAP8 1
ARID4A 1
ARL17A, ARL17B, KANSL1, LOC112533643, LRRC37A 1
ARL17B, KANSL1 1
ARL17B, KANSL1, LRRC37A 1
ARL6IP5, EOGT, LMOD3, TAFA1, TAFA4, TMF1, UBA3 1
ARPP21 1
ARX, LOC109610631 1
ASAH1 1
ASCL3 1
ASH1L 1
ASS1 1
ASTN1 1
ASTN2, TRIM32 1
ATAD3A 1
ATAD3B, ATAD3C 1
ATP2A3, CAMKK1, CTNS, EMC6, HASPIN, ITGAE, NCBP3, P2RX1, P2RX5, TAX1BP3, ZZEF1 1
ATP5PO, CRYZL1, DNAJC28, DONSON, GART, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE2, MRPS6, OLIG1, OLIG2, SLC5A3, SMIM11A, SON, TMEM50B 1
ATP8B3 1
ATR 1
ATRX, MAGT1 1
ATXN7L3, UBTF 1
AVEN, RYR3 1
AXIN2 1
B3GALNT2, TBCE 1
B3GAT1-DT, LINC02706, LINC02714, LOC121392954 1
B3GLCT 1
B4GALNT1 1
B4GALNT4, IFITM1, IFITM2, IFITM3, IFITM5, LOC116216126, NLRP6, PGGHG, PKP3 1
BAIAP2L1, BRI3 1
BAZ1B 1
BAZ2B, LOC120977012, LOC643072 1
BBS1, ZDHHC24 1
BBS2 1
BBS5 1
BBS7 1
BBS9