AutismKB 2.0

Annotation Detail for PITPNM1


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Basic Information Top
Gene Symbol:PITPNM1 ( DRES9,FLJ44997,NIR2,PITPNM,RDGB,RDGB1,RDGBA,RDGBA1,Rd9 )
Gene Full Name: phosphatidylinositol transfer protein, membrane-associated 1
Band: 11q13.2
Quick LinksEntrez ID:9600; OMIM: 608794; Uniprot ID:PITM1_HUMAN; ENSEMBL ID: ENSG00000110697; HGNC ID: 9003
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2178Retinal disease
No data
No data
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 PITPNM1 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of PITPNM1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of PITPNM1 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of PITPNM1 mRNAincreases expression 17879257
D004041 Dietary Fats Dietary Fats results in decreased expression of PITPNM1 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of PITPNM1 mRNAdecreases expression 18042831
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of PITPNM1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of PITPNM1 mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid results in increased expression of PITPNM1 mRNAincreases expression 18301758
D012643 Selenium Selenium results in increased expression of PITPNM1 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PITPNM1 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.106195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1015322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0220464547 20127859
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.913712494
MESH:D000236 Adenoma Benzo(a)pyrene 6.916695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.7417620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.7416434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.7416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001161 Arteriosclerosis Dietary Fats 4.1015238619
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.281440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.3519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8017474063 20146248
MESH:D001943 Breast Neoplasms Dietary Fats 1.8020435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7516705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.753581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.753084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.756705139 20935162 20007298 17173139 1701930
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.757296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4516120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.877505956
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.279022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.2719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1612621046 15340226 16354765 15668235 8697196
MESH:D003092 Colitis Selenium 3.9917936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.2318551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.018156756 11906362 14531868 8970840 18759878 11298694 12868966 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.672952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.5021346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.508291058 18289764 9653073 1440618 9022650 9328219 18692083 16192314 7440962 18648102 11289319 6482804 6679447
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5011287661 11834606 11529661 16781746 11743745 19085960 10663392 15968718 12153990 14725611 12705907 16177239 14550746 2444490 16485898 19923254 12392966 19164858 18713872 19416960 11739529 19420014 10915739 12958197 18071297 11461765 17562736 16109766 12540782 14986274 16393943 17522070 10774834 17906064 19370779 16227642 15619225 19739265 11421492 12594235 16081117
MESH:D056486 Drug-Induced Liver Injury Selenium 12.5015131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5020420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5718367378
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.323659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9720417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.263659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.493581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Dietary Fats 8.2817967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver pirinixic acid 8.2819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.286705139
MESH:D005355 Fibrosis Dietary Fats 9.3518296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3520067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.227505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7210048152 11294989
MESH:D006333 Heart Failure pirinixic acid 7.2820558911
MESH:D006333 Heart Failure Selenium 7.2817162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.716705139
MESH:D006529 Hepatomegaly Phenobarbital 15.6916109766
MESH:D006529 Hepatomegaly pirinixic acid 15.6919772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.6912621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 16959395 16354765 18606429 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7621332399
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.8021332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1515034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D007249 Inflammation Dietary Fats 5.1920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1912200463 12878042
MESH:D007251 Influenza, Human Selenium 4.4616624496
MESH:D007333 Insulin Resistance Dietary Fats 7.6118457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.6116306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.288074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2912587719 15629191
MESH:D007676 Kidney Failure, Chronic Selenium 4.0616518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.8416705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.846582329
MESH:D008103 Liver Cirrhosis Dietary Fats 6.9518296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.9521047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.309327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1812878042
MESH:D008107 Liver Diseases Acetaminophen 4.0611587558 19460945 16610002 12969438 12587719 19784758 16611625 19014921
MESH:D008107 Liver Diseases Phenobarbital 4.0619363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.1521137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 11.1515975961 19482888 19073162 19812893 8742319 21047994
MESH:D008113 Liver Neoplasms pirinixic acid 11.1520007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.1516984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.39598648 6587162 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.3917172636 2563599 18308698 6150874 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.3912151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2220135361 18520028 6695378 17053015 18569708 20464547 20869020 18816296 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2219555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8615318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008654 Mesothelioma Selenium 2.8515107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.0918551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.533581430
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0811141357
MESH:D009369 Neoplasms pirinixic acid 5.0817405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.026679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity Dietary Fats 4.5620132043 16723640 20518802 18457598 11836018 19632207 21332399 18674790 17217161
MESH:D009765 Obesity pirinixic acid 4.5620558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4312819281 16049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.434026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.283988306
MESH:D010018 Osteomalacia Phenobarbital 4.6017016548
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5416965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.707296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.736228378
MESH:D010954 Plasmacytoma Selenium 5.1515087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.772563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311118676 11896295 11222880 11399792
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9417292933
MESH:D019310 Pseudolymphoma Phenobarbital 4.7612752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.503692021
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3018551238
MESH:D012640 Seizures Phenobarbital 6.3016876388 3137016 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7219755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7216192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.587505956 6587162 6582329 3712494 1399818
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.581399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6116049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.618074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.6117053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.5510091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
MESH:D015430 Weight Gain Dietary Fats 3.8916723640
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


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