AutismKB 2.0

Annotation Detail for PLEKHM1


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Basic Information Top
Gene Symbol:PLEKHM1 ( AP162,B2,KIAA0356,OPTB6 )
Gene Full Name: pleckstrin homology domain containing, family M (with RUN domain) member 1
Band: 17q21.31
Quick LinksEntrez ID:9842; OMIM: 611466; Uniprot ID:PKHM1_HUMAN; ENSEMBL ID: ENSG00000225190; HGNC ID: 29017
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1710Albers-Schonberg disease
Desease Name
Parkinson's disease
NEUROLOGICAL
Desease Name
Parkinson's disease
Desease Name
Osteopetrosis, autosomal recessive 6
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PLEKHM1 mRNAdecreases expression 18648102
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 3.023712494
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 6.441440618 11289319
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.793581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.887296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.117505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.559022650 19486331
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.702524372 8156756 11298694 12868966 14531868 11906362 8970840 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.193621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.066679447 18692083 18648102 1440618 9653073 9328219 6482804 11289319 9022650 7440962 16192314 18289764 8291058
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.203581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 6.446705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.737505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.306705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.8515034207
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 6.448074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.456582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.509327722 15034207
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.833712494 598648 1399818 6587162
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.633581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.246679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.996482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 6.443988306
OMIM:611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 marker/mechanism
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.397296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.896228378
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.783692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.316582329 6587162 7505956 1399818 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.438074119
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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