AutismKB 2.0

Annotation Detail for EGLN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EGLN1 ( C1orf12,DKFZp761F179,ECYT3,HIFPH2,HPH2,PHD2,SM20,ZMYND6 )
Gene Full Name: egl nine homolog 1 (C. elegans)
Band: 1q42.2
Quick LinksEntrez ID:54583; OMIM: 606425; Uniprot ID:EGLN1_HUMAN; ENSEMBL ID: ENSG00000135766; HGNC ID: 1232
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05211Renal cell carcinoma
hsa05200Pathways in cancer
No data
Pathway IDPathway Name
200172HIF-1-alpha transcription factor network
Pathway IDPathway Name
P00030Hypoxia response via HIF activation
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00236Congenital polycythemia
No data
No data
No data
Desease Name
Erythrocytosis, familial, 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EGLN1 mRNAaffects expression 21346803
C011512 alpha-naphthoflavone alpha-naphthoflavone inhibits the reaction [[Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 mRNA]affects cotreatment|decreases expression|decreases reaction 18072750
C011512 alpha-naphthoflavone alpha-naphthoflavone inhibits the reaction [[Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 protein]affects cotreatment|decreases expression|decreases reaction 18072750
C011512 alpha-naphthoflavone alpha-naphthoflavone inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of EGLN1 mRNA]decreases reaction|increases expression 18072750
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EGLN1 mRNAaffects expression 16483693
D016589 Astemizole Astemizole results in increased expression of EGLN1 mRNAincreases expression 20221588
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of EGLN1 mRNAdecreases expression 19150397
C018021 cobaltous chloride cobaltous chloride results in increased expression of EGLN1 mRNAincreases expression 15695372
D002117 Calcitriol Calcitriol results in increased expression of EGLN1 mRNAincreases expression 16002434
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EGLN1 mRNAaffects cotreatment|increases expression 17942748
C020748 ferrous sulfate ferrous sulfate results in increased activity of EGLN1 proteinincreases activity 16649251
D007501 Iron Iron binds to EGLN1 proteinaffects binding 16649251
C022838 nickel chloride nickel chloride results in decreased activity of EGLN1 proteindecreases activity 16649251
C022838 nickel chloride nickel chloride results in increased expression of EGLN1 mRNAincreases expression 12839937
C044387 N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in increased activity of EGLN1 proteinincreases activity 16973622
16579968
C044387 N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine zinc chloride inhibits the reaction [N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in increased activity of EGLN1 protein]decreases reaction|increases activity 16579968
C044387 N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine Zinc inhibits the reaction [N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in increased activity of EGLN1 protein]decreases reaction|increases activity 16579968
D010100 Oxygen alpha-naphthoflavone inhibits the reaction [[Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 mRNA]affects cotreatment|decreases expression|decreases reaction 18072750
D010100 Oxygen alpha-naphthoflavone inhibits the reaction [[Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 protein]affects cotreatment|decreases expression|decreases reaction 18072750
D010100 Oxygen [Oxygen deficiency co-treated with Tetrachlorodibenzodioxin] results in decreased expression of EGLN1 proteinaffects cotreatment|decreases expression 18072750
D010100 Oxygen Oxygen deficiency results in increased expression of EGLN1 proteinincreases expression 18072750
D010100 Oxygen [Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 mRNAaffects cotreatment|decreases expression 18072750
D010100 Oxygen EGLN1 protein affects the reaction [HIF1A protein affects the susceptibility to Oxygen]affects reaction|affects response to substance 16899821
D013749 Tetrachlorodibenzodioxin alpha-naphthoflavone inhibits the reaction [[Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 mRNA]affects cotreatment|decreases expression|decreases reaction 18072750
D013749 Tetrachlorodibenzodioxin alpha-naphthoflavone inhibits the reaction [[Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 protein]affects cotreatment|decreases expression|decreases reaction 18072750
D013749 Tetrachlorodibenzodioxin alpha-naphthoflavone inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of EGLN1 mRNA]decreases reaction|increases expression 18072750
D013749 Tetrachlorodibenzodioxin [Oxygen deficiency co-treated with Tetrachlorodibenzodioxin] results in decreased expression of EGLN1 proteinaffects cotreatment|decreases expression 18072750
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Oxygen deficiency] results in decreased expression of EGLN1 mRNAaffects cotreatment|decreases expression 18072750
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EGLN1 mRNAincreases expression 18072750
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EGLN1 proteinincreases expression 18072750
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EGLN1 mRNAaffects cotreatment|increases expression 17942748
D015032 Zinc Zinc inhibits the reaction [N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in increased activity of EGLN1 protein]decreases reaction|increases activity 16579968
C016837 zinc chloride zinc chloride inhibits the reaction [N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in increased activity of EGLN1 protein]decreases reaction|increases activity 16579968
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of EGLN1 mRNAincreases expression 16330358
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8415322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 10.5918287403
MESH:D000138 Acidosis Zinc Sulfate 10.597265320
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9417505938
MESH:D000169 Acrodermatitis Zinc 5.3917202136 17190629 16889938
MESH:D055371 Acute Lung Injury Oxygen 4.5116759491
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8114692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.3716835633
MESH:D019896 alpha 1-Antitrypsin Deficiency Iron 5.6416640825
MESH:D000544 Alzheimer Disease Iron 4.6516640825 16563566
MESH:D000544 Alzheimer Disease Zinc 4.6516325427 16410023 17119284 16580781
MESH:D000740 Anemia Iron 8.8616566752 16434484
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.8611748828
MESH:D018798 Anemia, Iron-Deficiency Iron 4.6317162259 17163184 16569441 17147795 17375513
MESH:D000755 Anemia, Sickle Cell Zinc 4.8816916123
MESH:D000756 Anemia, Sideroblastic Iron 4.7916910769
MESH:D000799 Angioedema Astemizole 5.662883202
MESH:D000860 Anoxia Oxygen 11.4920872349
MESH:D000860 Anoxia Zinc Sulfate 11.497265320
MESH:D001145 Arrhythmias, Cardiac Iron 4.3516604332
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6515885639
MESH:D001249 Asthma Zinc 2.9517085522
MESH:D001260 Ataxia Telangiectasia Iron 5.4415336622
MESH:D050197 Atherosclerosis Iron 7.2116640825 16632123
MESH:D050197 Atherosclerosis Oxygen 7.2116391483
MESH:D001321 Autistic Disorder Iron 2.7917352947
MESH:D001424 Bacterial Infections Iron 5.1916640825
MESH:D001778 Blood Coagulation Disorders ferrous sulfate 9.506421970
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7515746008
MESH:D001930 Brain Injuries Zinc 4.6817109824
MESH:D001943 Breast Neoplasms Calcitriol 2.0111237771
MESH:D001943 Breast Neoplasms Oxygen 2.0117263869
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0120435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7816835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7616705839
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.9811237771
MESH:D002294 Carcinoma, Squamous Cell Zinc 4.9816543248
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3518670907 18850075 16120746
MESH:D009202 Cardiomyopathies Iron 4.0316640825
MESH:D002311 Cardiomyopathy, Dilated Iron 3.4516604332
MESH:D002318 Cardiovascular Diseases Zinc 3.6416936243
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.606135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.6020889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8617333356 17681005 11677210 16919318 15861022 16105132 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.098697196 15340226 15668235 12621046 16354765
MESH:D003110 Colonic Neoplasms Iron 2.8916640825
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6610048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Zinc 2.6619302082
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.0018551238
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.0216823706 15059100 11298694
MESH:D003920 Diabetes Mellitus Iron 9.5816640825 16604332
MESH:D003920 Diabetes Mellitus Zinc 9.5816479319
MESH:D003922 Diabetes Mellitus, Type 1 Iron 3.3516506275
MESH:D003924 Diabetes Mellitus, Type 2 Iron 4.5316506275
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5317107852
MESH:D004244 Dizziness Astemizole 6.473105558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.6821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.6820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7411462148
MESH:D004417 Dyspnea Oxygen 4.8320016425
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.3612711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9015322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 9.0415138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.0412538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.009294722 10568697
MESH:D004802 Eosinophilia Astemizole 4.791355641
OMIM:609820 ERYTHROCYTOSIS, FAMILIAL, 3 marker/mechanism
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6420426865
MESH:D004938 Esophageal Neoplasms Zinc 4.6416543248
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0011564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.9715345470
MESH:D005234 Fatty Liver Iron 7.9716640825
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9320067830
MESH:D005499 Folliculitis Astemizole 5.921671328
MESH:D005621 Friedreich Ataxia Iron 5.4116604332 16640825
MESH:D005739 Gas Poisoning Oxygen 5.2220016425
MESH:D005756 Gastritis Zinc 4.8017241300
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5910696789
MESH:D006130 Growth Disorders Zinc 3.9517217573
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3210048152 11294989
MESH:D006333 Heart Failure Zinc 3.5917162251
MESH:D006335 Heart Injuries Zinc 5.7717074742
MESH:D016481 Helicobacter Infections Zinc 4.5117241300
MESH:D006432 Hemochromatosis Iron 4.4716640825 17236123 16574947 16604332 17053826 17255318
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3211000095
MESH:D006486 Hemosiderosis Iron 5.2116604332
MESH:D006525 Hepatitis, Viral, Human Iron 5.4716640825
MESH:D006527 Hepatolenticular Degeneration Iron 18.5517182432
MESH:D006527 Hepatolenticular Degeneration Zinc 18.5517276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 18.5517063115
MESH:D006529 Hepatomegaly Iron 8.7016890145
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.7016120746 15340226 12621046
MESH:D015658 HIV Infections Iron 3.6616597321
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.058697196 16959395 15340226 16354765 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9018850075 18670907
MESH:D007006 Hypogonadism Iron 4.3916640825
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8016945680 16569931
MESH:D007022 Hypotension Zinc Sulfate 4.457265320
MESH:D007037 Hypothyroidism Iron 5.0716640825
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4412013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4717937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8412200463 12878042
MESH:D019189 Iron Metabolism Disorders Iron 5.0217163184
MESH:D007511 Ischemia Zinc 4.6216584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3216580747
MESH:D007674 Kidney Diseases Zinc 3.3116960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.4016518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 2.9616705839
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.2415237267
MESH:D020961 Lewy Body Disease Iron 5.4116563566
MESH:D017513 Lichen Nitidus Astemizole 6.472563723
MESH:D008103 Liver Cirrhosis Iron 3.7116640825
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008108 Liver Diseases, Alcoholic Iron 4.9916737972 17207112
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.467678174
MESH:D008113 Liver Neoplasms Iron 7.4616640825 20302851
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.4616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 5.692876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.6912151625
MESH:D008133 Long QT Syndrome Astemizole 4.5818472280 11989578
MESH:D055370 Lung Injury Oxygen 4.4918339021
MESH:D008175 Lung Neoplasms Iron 2.5816640825
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5819555203 11884234
MESH:D008268 Macular Degeneration Iron 3.9716640825
MESH:D008288 Malaria Astemizole 4.7316816845
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.2812773700
MESH:D020528 Multiple Sclerosis, Chronic Progressive Iron 5.6717086897
MESH:D009181 Mycoses Iron 5.4716640825
MESH:D017202 Myocardial Ischemia Iron 9.1116604332
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.1112213967
MESH:D015428 Myocardial Reperfusion Injury Iron 4.2516604332
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.8518551238 7678174
MESH:D009404 Nephrotic Syndrome Iron 4.5017178036
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2014600291
MESH:D019636 Neurodegenerative Diseases Iron 4.2217296847 16604332
MESH:D009759 Nystagmus, Pathologic Astemizole 6.476135121
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.4116049721
MESH:D010003 Osteoarthritis Iron 3.9516640825
MESH:D010024 Osteoporosis Iron 3.8416648989 16640825
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6711578682
MESH:D010212 Papilloma Iron 4.4712065085
MESH:D020447 Parasomnias Iron 6.0217352947
MESH:D010300 Parkinson Disease Iron 3.3116563566 16640825
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2512520081
MESH:D010900 Pituitary Diseases Iron 5.6716604332
MESH:D011041 Poisoning Iron 4.2716604332
MESH:D017119 Porphyria Cutanea Tarda Iron 10.9716640825
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 10.9718163543
MESH:D011225 Pre-Eclampsia Iron 9.4816640825
MESH:D011225 Pre-Eclampsia Zinc 9.4817114810
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.1811896295 11222880 11118676 11399792
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.7715572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.6012479363 16289102 15754350 18247401 16644109
MESH:D011471 Prostatic Neoplasms Zinc 3.6016700911 16517595 16606632 12429649
MESH:D011528 Protozoan Infections Iron 6.0216640825
MESH:D011537 Pruritus Ethinyl Estradiol 3.3015861022 16919318
MESH:D012128 Respiratory Distress Syndrome, Adult Oxygen 4.4917627322 18339021
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8218990726
MESH:D012148 Restless Legs Syndrome Iron 4.5316930377
MESH:D012162 Retinal Degeneration Zinc 4.1116584753
MESH:D012221 Rhinitis, Allergic, Perennial Astemizole 5.4310822083
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5218551238
MESH:D012878 Skin Neoplasms Iron 5.8412065085
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9416709447
MESH:D013398 Sudden Infant Death Iron 13.2916640825
MESH:D013398 Sudden Infant Death Oxygen 13.2912563064
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9012697716
MESH:D014062 Tongue Neoplasms Zinc 4.3816543248
MESH:D016171 Torsades de Pointes Astemizole 5.209583453 8256756
MESH:D014376 Tuberculosis Iron 4.0716597321
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.2816049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.3110091137
MESH:D014581 Urticaria Astemizole 4.783080510 2565098 2147912 2883202 1683191 3134034 2568189 2885854 1976298 2859714 2568013 3097109
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5214671159 15869587
MESH:D014717 Vertigo Astemizole 6.473105558
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2515886252
Pathway ID Pathway Name
KEGG:05200 Pathways in cancer
KEGG:05211 Renal cell carcinoma
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27670
    • No data
    Releated disease ID Related disease Name
    PA445377Polycythemia
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00126 - Vitamin C Antioxidants;Essential Vitamins;Free Radical Scavengers;Vitamins (Vitamin C);Vitamins
    DB07112 - N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE
    DB08687 - N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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