AutismKB 2.0

Annotation Detail for PLEC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PLEC ( EBS1,EBSO,HD1,PCN,PLEC1,PLEC1b,PLTN )
Gene Full Name: plectin
Band: 8q24.3
Quick LinksEntrez ID:5339; OMIM: 601282; Uniprot ID:PLEC_HUMAN; ENSEMBL ID: ENSG00000178209; HGNC ID: 9069
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Apoptosis
Cell junction organization
No data
No data
Pathway IDPathway Name
500126Type I hemidesmosome assembly
500271Caspase-mediated cleavage of cytoskeletal proteins
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1809HIV infection
2061Epidermolysis bullosa
No data
No data
Desease Name
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Muscular dystrophy with epidermolysis bullosa simplex
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PLEC mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PLEC mRNAdecreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PLEC mRNAaffects expression 16483693
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 PLEC mRNAdecreases expression 20018196
19150397
D002713 Chlorine [Ozone co-treated with Chlorine] results in decreased expression of PLEC mRNAaffects cotreatment|decreases expression 18636392
D004958 Estradiol Estradiol affects the expression of PLEC mRNAaffects expression 14699072
D004958 Estradiol Estradiol results in decreased expression of PLEC mRNAdecreases expression 16705744
D019833 Genistein Genistein results in decreased expression of PLEC mRNAdecreases expression 16705744
D007052 Ibuprofen Ibuprofen affects the expression of PLEC proteinaffects expression 18351690
D007052 Ibuprofen Ibuprofen results in increased expression of PLEC mRNAincreases expression 18351690
D010126 Ozone [Ozone co-treated with Chlorine] results in decreased expression of PLEC mRNAaffects cotreatment|decreases expression 18636392
D011374 Progesterone Progesterone results in decreased expression of PLEC mRNAdecreases expression 18037150
18070364
D012643 Selenium Selenium results in increased expression of PLEC mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of PLEC mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of PLEC mRNAaffects expression 14699072
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PLEC mRNAincreases expression 17035482
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PLEC proteindecreases expression 16548065
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.6414745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9315322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D058186 Acute Kidney Injury Ibuprofen 4.506375363
MESH:D055371 Acute Lung Injury Chlorine 4.3820601635
MESH:D000230 Adenocarcinoma Estradiol 7.3411473722
MESH:D000230 Adenocarcinoma Genistein 7.3411473722
MESH:D000230 Adenocarcinoma Ibuprofen 7.3410697514
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.783712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4616835633
MESH:D000544 Alzheimer Disease Ibuprofen 4.6418351690
MESH:D000544 Alzheimer Disease Ozone 4.6415513908
MESH:D000707 Anaphylaxis Ibuprofen 5.329532969
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0011748828
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5715570426
MESH:D001249 Asthma Ozone 2.6517854713 16373670
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.121440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4317868700
MESH:D001930 Brain Injuries Progesterone 4.3315665606 15380490 15845082
MESH:D002545 Brain Ischemia Ibuprofen 4.9615837124
MESH:D001943 Breast Neoplasms Estradiol 2.3517289903 18497071 17261762 14630087 12948864 17018787 19861407 16675129
MESH:D001943 Breast Neoplasms Genistein 2.3516541309 17200150 16873071
MESH:D001943 Breast Neoplasms Progesterone 2.3517614352 15562024 16175315
MESH:D001943 Breast Neoplasms Tamoxifen 2.3519189210 19059307 18815881 20859285 18425577 16873071 15565566 20544844 16818667 20005174 16202921 19115204 17893378 18984771 18629630 20390343 17242785 19487384 19011961 19200415 20135344 17049068 19084267 21152245 19189212 16273361 18855134 19410462 19066611 19288272 19221464 21138602 11161223 17440819 20065188 19244106 19155303 19103187 18351453 17261762 19142967 15668708 18997820 19289846 18821012
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3520435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7218417511 16777450 18315731 15516495 17626835 14754758 19059883
MESH:D002100 Cachexia Ibuprofen 12.8515141370
MESH:D002100 Cachexia Ozone 12.8516183385
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8416835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.5819066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 8.9616705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 8.963581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.9616924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 8.9616924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 8.9616924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.707296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.6617572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3918670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Genistein 3.3416332659
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.336135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 16.337505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.3320889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 16.3318566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.199022650 19486331
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8215894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1216354765 15668235 8697196 15340226 12621046
MESH:D003092 Colitis Selenium 3.8517936198
MESH:D003110 Colonic Neoplasms Genistein 2.2917182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.0918551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.4319031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.872524372 11906362 8156756 14531868 12868966 11298694 18759878 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.552952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8216285004
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.3716647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3717107852
MESH:D003928 Diabetic Nephropathies Estradiol 9.0019279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.0019279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.5617187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.1921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.199328219 16192314 8291058 1440618 6482804 18289764 6679447 9653073 11289319 7440962 9022650 18648102 18692083
MESH:D056486 Drug-Induced Liver Injury Selenium 12.1915131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.1915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.1920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:D004374 Ductus Arteriosus, Patent Ibuprofen 5.7018446180 18450898 16133044
MESH:D004417 Dyspnea Chlorine 4.7220016425
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0018230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.3817692515
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.3819031437
MESH:D004714 Endometrial Hyperplasia Genistein 4.6716402032
MESH:D016889 Endometrial Neoplasms Estradiol 12.6611473722 19148513 18566989
MESH:D016889 Endometrial Neoplasms Genistein 12.6611473722
MESH:D016889 Endometrial Neoplasms Tamoxifen 12.6617893378 19155303 16202921 20544844
MESH:D004715 Endometriosis Ibuprofen 15.6715652904
MESH:D004715 Endometriosis Progesterone 15.6716134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 15.6710568697 9294722
MESH:D019446 Endotoxemia Ibuprofen 5.0511545620
MESH:C535962 Epidermolysis bullosa simplex, Ogna type marker/mechanism
OMIM:226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY marker/mechanism
OMIM:612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA marker/mechanism
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.433581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4320426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0511564622
MESH:D005234 Fatty Liver Tamoxifen 3.2214986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005334 Fever Ibuprofen 4.6316997862
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.126705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.6114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.2619069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0220067830
MESH:D005739 Gas Poisoning Chlorine 5.1120016425
MESH:D005909 Glioblastoma Genistein 3.2916598420
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.107505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3610048152 11294989
MESH:D006333 Heart Failure Selenium 3.1117162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.586705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9615340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.1315709030
MESH:D019584 Hot Flashes Estradiol 3.8517088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.148697196 18606429 15340226 16354765 16959395
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0115034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9218850075 18670907
MESH:D006984 Hypertrophy Ibuprofen 5.0316672835
MESH:D007235 Infant, Premature, Diseases Ibuprofen 5.9316133044
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4715869954
MESH:D007249 Inflammation Ibuprofen 12.243291741
MESH:D007249 Inflammation Progesterone 12.2415869954
MESH:D007249 Inflammation Tamoxifen 12.2419457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.2412878042 12200463
MESH:D007251 Influenza, Human Selenium 4.2916624496
MESH:D007333 Insulin Resistance Estradiol 7.5516393666 16627594
MESH:D007333 Insulin Resistance Sodium Selenite 7.5514714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.129022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3916580747
MESH:D007674 Kidney Diseases Estradiol 2.6115618244
MESH:D007676 Kidney Failure, Chronic Selenium 3.9416518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 18.1416705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 18.146582329
MESH:D007680 Kidney Neoplasms Estradiol 18.1415610895
MESH:D007680 Kidney Neoplasms Tamoxifen 18.1418625569
MESH:D007938 Leukemia Genistein 3.0518980019 17468513
MESH:D008064 Lipidoses Tamoxifen 3.1915342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.239327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.0014659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.0017823541
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.0018564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0012878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.497678174
MESH:D008113 Liver Neoplasms Tamoxifen 7.4916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.4916984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 9.962876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 9.963712494 6587162 598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.9612151625
MESH:D008171 Lung Diseases Ozone 3.418266340 19066396
MESH:D055370 Lung Injury Ozone 3.9220417186
MESH:D008175 Lung Neoplasms Ozone 3.448597069 7614698
MESH:D008175 Lung Neoplasms Tamoxifen 3.4418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4411884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1214737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.8419428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 24.0617203775 11807958 11408345 16891317
MESH:D008325 Mammary Neoplasms, Experimental Genistein 24.0614578162 12929590
MESH:D008325 Mammary Neoplasms, Experimental Ibuprofen 24.0610697514
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 24.0611408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Selenium 24.0615318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 24.0614580682 16827153 11731420 19196723 19196722
MESH:D020149 Manganese Poisoning Estradiol 12.9819453300
MESH:D020149 Manganese Poisoning Tamoxifen 12.9819453300
MESH:D008545 Melanoma Tamoxifen 1.8919393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.2615990972
MESH:D008654 Mesothelioma Selenium 2.8115107826
MESH:D008679 Metaplasia Ozone 5.2010496685
MESH:D009203 Myocardial Infarction Genistein 2.8817141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.6516810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.6517141266
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.947678174 18551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.763581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.7619393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5319410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.1019200415 19196722 19189210
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8117289903
MESH:D009395 Nephritis, Interstitial Ibuprofen 5.086375363
MESH:D009410 Nerve Degeneration Ibuprofen 4.4310961664
MESH:D009421 Nervous System Malformations Estradiol 16.7611399458 16427766
MESH:D009421 Nervous System Malformations Genistein 16.7616427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 16.7614600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.956679447
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.0516049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.054026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.123988306
MESH:D010003 Osteoarthritis Ibuprofen 4.167009135
MESH:D010024 Osteoporosis Genistein 3.2819401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.1416169203
MESH:D010051 Ovarian Neoplasms Estradiol 8.0119401270
MESH:D010051 Ovarian Neoplasms Genistein 8.0119005980
MESH:D010051 Ovarian Neoplasms Progesterone 8.0117393432 16525653
MESH:D010146 Pain Ibuprofen 3.973291741
MESH:D010149 Pain, Postoperative Ibuprofen 5.2416678543
MESH:D010190 Pancreatic Neoplasms Ibuprofen 3.5012384795
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.557296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3512520081
MESH:D010538 Peritonitis Ozone 4.2016369182
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.576228378
MESH:D010954 Plasmacytoma Selenium 4.9915087411
MESH:D011014 Pneumonia Ozone 4.4818929643 18381685 18007984
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2711399792 11222880 11118676 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9420887781
MESH:D011471 Prostatic Neoplasms Estradiol 1.8816740699
MESH:D011471 Prostatic Neoplasms Genistein 1.8816925846 15378649 15256057
MESH:D011471 Prostatic Neoplasms Ibuprofen 1.8817409433
MESH:D011471 Prostatic Neoplasms Sodium Selenite 1.8818760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 1.8815067354
MESH:D011507 Proteinuria Ibuprofen 4.686375363
MESH:D012120 Respiration Disorders Chlorine 5.3118579056
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.413692021
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8718045962
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5718551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0716192470
MESH:D013088 Spermatocele Tamoxifen 4.3916709447
MESH:D013119 Spinal Cord Injuries Progesterone 11.1516503802 15862959
MESH:D013119 Spinal Cord Injuries Tamoxifen 11.1519457130
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.926587162 1399818 7505956 3712494 6582329
MESH:D013978 Tibial Fractures Estradiol 4.7819048282
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.4016049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.408074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.408653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4010091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D020301 Vasospasm, Intracranial Ibuprofen 5.2719057314
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
Pathway ID Pathway Name
REACT:578 Apoptosis
REACT:20676 Cell junction organization
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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