AutismKB 2.0

Annotation Detail for PHLDB1


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Basic Information Top
Gene Symbol:PHLDB1 ( DKFZp686H039,DKFZp686O24210,FLJ00141,FLJ90266,KIAA0638,LL5A,MGC111531 )
Gene Full Name: pleckstrin homology-like domain, family B, member 1
Band: 11q23.3
Quick LinksEntrez ID:23187; OMIM: 612834; Uniprot ID:PHLB1_HUMAN; ENSEMBL ID: ENSG00000019144; HGNC ID: 23697
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CANCER
Glioma
Desease Name
Glioma
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PHLDB1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PHLDB1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PHLDB1 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PHLDB1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHLDB1 mRNAaffects cotreatment|increases expression 17942748
C009131 pyrimidin-2-one beta-ribofuranoside pyrimidin-2-one beta-ribofuranoside results in decreased expression of PHLDB1 mRNAdecreases expression 19194470
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHLDB1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PHLDB1 mRNAdecreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7316705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7316705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.733084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 16120746 18670907
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.986135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1016919318 15861022 16105132 17333356 17681005 17110522 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15340226 12621046 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.3218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.3218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.5921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.5918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.5914550746 15968718 19164858 12705907 15619225 12540782 16227642 17522070 16177239 14725611 2444490 10663392 16393943 16781746 14986274 10915739 19085960 12153990 19923254 17906064 11743745 11529661 17562736 11461765 12392966 18071297 16109766 11421492 19370779 19416960 10774834 11287661 16485898 12958197 12594235 19739265 16081117 18713872 11834606 11739529 19420014
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005910 Glioma marker/mechanism 19578367
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716959395 15340226 16354765 18606429 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.2716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.2716705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 11587558 19460945 12969438 19014921 16610002 16611625 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.707678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.342876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008545 Melanoma pyrimidin-2-one beta-ribofuranoside 3.7816505122
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.9418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.9418551238 7678174
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.9216049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.9216049721
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511222880 11896295 11118676 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.5618551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.5618551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3616049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3616049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.5810091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.5810091137
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
No data
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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