AutismKB 2.0

Annotation Detail for PCBD1


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Basic Information Top
Gene Symbol:PCBD1 ( DCOH,PCBD,PCD,PHS )
Gene Full Name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Band: 10q22.1
Quick LinksEntrez ID:5092; OMIM: 126090; Uniprot ID:PHS_HUMAN; ENSEMBL ID: ENSG00000166228; HGNC ID: 8646
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PHENYLALANINE-DEG1-PWYphenylalanine degradation I (aerobic)
No data
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
No data
Pathway IDPathway Name
500782Phenylalanine and tyrosine catabolism
Related Diseases/Disorders Top
Desease IDDesease Name
H00167Phenylketonuria
Inherited disorders of amino acid metabolism
Genetic disorders
Desease IDDesease Name
1904Diabetes mellitus
No data
No data
Desease Name
Hyperphenylalaninemia, BH4-deficient, D
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PCBD1 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of PCBD1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PCBD1 mRNAaffects expression 16483693
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in decreased expression of PCBD1 mRNAdecreases expression 15912405
D002330 Carmustine Carmustine results in decreased expression of PCBD1 mRNAdecreases expression 15980968
D000431 Ethanol Ethanol results in increased expression of PCBD1 mRNAincreases expression 17920746
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of PCBD1 mRNAaffects cotreatment|increases expression 17183730
C008493 methylselenic acid methylselenic acid results in decreased expression of PCBD1 mRNAdecreases expression 18548127
D018038 Sodium Selenite Sodium Selenite results in increased expression of PCBD1 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PCBD1 mRNAdecreases expression 16443690
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PCBD1 mRNAincreases expression 15328365
D014212 Tretinoin Tretinoin results in increased expression of PCBD1 mRNAincreases expression 16604517
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of PCBD1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 15.2018926900 17676605
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 15.2011752688 14514962 15322242
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 15.208875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0419490988
MESH:D000138 Acidosis Ammonium Chloride 10.9918287403
MESH:D000138 Acidosis Ethanol 10.9911192467
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.813712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.4915451040 15451039
MESH:D000505 Alopecia Tretinoin 3.7015955085
MESH:D000550 Amblyopia Valproic Acid 5.4117688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D000853 Anophthalmos Ethanol 4.9615513904
MESH:D001008 Anxiety Disorders Ethanol 9.2811141031
MESH:D001008 Anxiety Disorders Valproic Acid 9.2817497229
MESH:D001169 Arthritis, Experimental Tretinoin 3.1416412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2916292516
MESH:D001249 Asthma Tretinoin 2.3716456186
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8519232924 18985861 19460635 17507914 17157402 18558336 17688650 18775368 18396377 18940202 16609825 18177632 18316065 15238991 20603192
MESH:D001471 Barrett Esophagus Tretinoin 4.5316935849
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.191440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.1320046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3112125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.3116206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.2515746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.258888407
MESH:D001932 Brain Neoplasms Carmustine 4.4916187019
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9716166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.7416813970
MESH:D002056 Burns Ethanol 4.7916374292
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.3316168501
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.717296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.713084413
MESH:D006528 Carcinoma, Hepatocellular Ethanol 6.7118788625 15289165 15763234
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.711917145
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.727296757
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3216096774 16051514
MESH:D006332 Cardiomegaly Ethanol 7.0419332462
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.0418850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 7.4310977129
MESH:D002386 Cataract Tretinoin 7.4317460283
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.837505956
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.7416129372
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7420734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.2319486331 9022650
MESH:D002822 Choriocarcinoma Tretinoin 5.3316461808
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8915894690
MESH:D002971 Cleft Lip Ethanol 3.6415513904
MESH:D002972 Cleft Palate Ethanol 10.0915513904
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 10.0915340226 8697196 15668235 16354765 12621046
MESH:D002972 Cleft Palate Tretinoin 10.099407595
MESH:D003092 Colitis Tretinoin 3.8417035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D019465 Craniofacial Abnormalities Ethanol 5.5111198716 15451040 19302082 15513904 15451039 10194807 11873399
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.5115322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Tretinoin 5.5110589399 16925845 9125849 9224671 17551590 9211117 14991402 9142499 8800419 9664655
MESH:D019465 Craniofacial Abnormalities Valproic Acid 5.5117688650 16575769 8888407
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.942524372 12868966 8156756 18759878 11298694 8970840 11906362 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.613621924 2952479
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8716285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 15.686679447 18692083 9022650 9653073 7440962 18289764 16192314 9328219 6482804 1440618 11289319 8291058 18648102
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.6817562736 17522070 12392966 16109766 16081117 10915739 16393943 18071297 12540782 11461765 19370779 16227642 19420014 11834606 10774834 14725611 11739529 18713872 11743745 12958197 15968718 17906064 12594235 12705907 19164858 16781746 19085960 14986274 14550746 10663392 15619225 12153990 16177239 11287661 2444490 19416960 19923254 19739265 16485898 11421492 11529661
MESH:D056486 Drug-Induced Liver Injury Ethanol 15.6811566570
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 15.6815131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.6820420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 15.681733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004421 Dystonia Valproic Acid 4.171851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 12.5318230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 12.5318230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1816569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.293659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.0916628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.9918234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.686426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.447750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.223659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.723581430
MESH:D004938 Esophageal Neoplasms Ethanol 4.7216704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.1111564622
MESH:D005124 Eye Abnormalities Tretinoin 9.119664655 16938888
MESH:D005234 Fatty Liver Ethanol 8.4516409862 19236843 18620774
MESH:D005234 Fatty Liver Valproic Acid 8.4514986274 19224547
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.8417920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.4516946407 10194807 15451040 15513904
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005315 Fetal Diseases Valproic Acid 5.0616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.268888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0920067830
MESH:D005355 Fibrosis Tretinoin 9.0917994277
MESH:D005756 Gastritis Acetaminophen 11.7216983495
MESH:D005756 Gastritis Ethanol 11.7215046732
MESH:D005909 Glioblastoma Carmustine 7.6916187019
MESH:D005909 Glioblastoma Tretinoin 7.6917312396
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.3316084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7211294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 6.729664655 14991402
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0312621046 16120746 15340226
MESH:D006849 Hydrocephalus Valproic Acid 5.0217688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2215340226 8697196 16354765 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 13.5916870215
MESH:D006930 Hyperalgesia Ethanol 13.5918783367
MESH:D006930 Hyperalgesia Tretinoin 13.5916870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7116778211
OMIM:264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D marker/mechanism
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9418850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7616612254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9112878042 12200463
MESH:D007333 Insulin Resistance Sodium Selenite 3.3414714311
MESH:D007410 Intestinal Diseases Tretinoin 3.9017994277
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Ethanol 17.8415513904
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 17.8416580747
MESH:D007569 Jaw Abnormalities Tretinoin 17.8415992940 17551590
MESH:D007674 Kidney Diseases Acetaminophen 2.2615629191 12587719
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.066582329
MESH:D007859 Learning Disorders Ethanol 4.3515451040
MESH:D007938 Leukemia Tretinoin 2.8217143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.8116932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 3.9417596541 16294345 19850784
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 3.9416294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2212679006 19075265 16935935 17339181 16140955 17649720 15748426 17361223 17506722 16891316 16331271 17107899 17301526 16823087 19035177 16788101 19029980 17294898 16766008 9834237 17217047 17712046 19225113 19642359 17368321
MESH:D017880 Limb Deformities, Congenital Ethanol 8.5817676605
MESH:D017880 Limb Deformities, Congenital Tretinoin 8.589224671
MESH:D008103 Liver Cirrhosis Ethanol 3.4315289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.2518295389
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.269327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 3.5918166357
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5912878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.5918397230 16248980
MESH:D008107 Liver Diseases Acetaminophen 1.6516610002 16611625 12587719 19784758 19460945 12969438 19014921 11587558
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.7917347304 17207112
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3417185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7516984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 5.95598648 3712494 1399818 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9512151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4417228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1814737004
MESH:D008527 Medulloblastoma Tretinoin 2.8217453147
MESH:D008545 Melanoma Carmustine 3.7012393984
MESH:D008545 Melanoma Tretinoin 3.7016752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008569 Memory Disorders Ethanol 4.3118411066 15451040
MESH:D008591 Meningomyelocele Tretinoin 4.5616940565
MESH:D008881 Migraine Disorders Valproic Acid 3.2718803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.148888407
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.5917596541
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.5917596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.513581430
MESH:D009369 Neoplasms Tretinoin 2.4616594593 16946489
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.9414600291
MESH:D009421 Nervous System Malformations Tretinoin 9.949125849
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 12.546679447
MESH:D009436 Neural Tube Defects Tretinoin 12.549142499
MESH:D009436 Neural Tube Defects Valproic Acid 12.5416359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9618514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.524026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D010051 Ovarian Neoplasms Tretinoin 2.3716936753
MESH:D010146 Pain Acetaminophen 6.8916870215
MESH:D010146 Pain Tretinoin 6.8916870215
MESH:D010190 Pancreatic Neoplasms Ethanol 5.5712384795
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.5715976015
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.627296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.9811399792 11896295 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.9820603192
MESH:D011471 Prostatic Neoplasms methylselenic acid 3.5316205645
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.5318760546
MESH:D011507 Proteinuria Tretinoin 3.7216636307
MESH:D019310 Pseudolymphoma Valproic Acid 4.7112752131 11422049
MESH:D011625 Pterygium Tretinoin 4.9516723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.2616283617 16116481
MESH:D012208 Rhabdomyosarcoma Valproic Acid 11.2619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0819110320 15737665
MESH:D012640 Seizures Ethanol 6.429754883
MESH:D012640 Seizures Valproic Acid 6.4216876388 3137016 14763951 17978042 11044598 11738929 1511512 15475178
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7216192470
MESH:D012878 Skin Neoplasms Tretinoin 5.7216467112
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7112833885
MESH:D013274 Stomach Neoplasms Ethanol 2.6418456281
MESH:D013274 Stomach Neoplasms Tretinoin 2.6417261132
MESH:D013276 Stomach Ulcer Ethanol 3.6411906479 9211565 17918041 17189318 16755016 9562338
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.369754883
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.417505956 6582329 3712494 6587162 1399818
MESH:D013964 Thyroid Neoplasms Tretinoin 7.4117045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.8916051514
MESH:D014178 Translocation, Genetic Valproic Acid 5.4117262798
MESH:D014376 Tuberculosis Tretinoin 3.2916040207
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.673119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.318074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.788888407
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.7816129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.7816752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D014820 Vitiligo Tretinoin 4.1816761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D009396 Wilms Tumor Tretinoin 4.0716287080
Pathway ID Pathway Name
REACT:13 Metabolism of amino acids and derivatives
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA32985
    • No data
    No data
    Releated drug ID Related drug Name
    PA449780glutathione
    PA450931l-phenylalanine
    PA451822l-tyrosine
    PA161990676tetrahydrobiopterin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB04400 - 7,8-dihydrobiopterin
    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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