AutismKB 2.0

Annotation Detail for PKHD1L1


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Basic Information Top
Gene Symbol:PKHD1L1 ( DKFZp586C1021,PKHDL1 )
Gene Full Name: polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1
Band: 8q23.1-q23.2
Quick LinksEntrez ID:93035; OMIM: 607843; Uniprot ID:PKHL1_HUMAN; ENSEMBL ID: ENSG00000205038; HGNC ID: 20313
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PKHD1L1 mRNAdecreases expression 18648102
D018038 Sodium Selenite Sodium Selenite results in decreased expression of PKHD1L1 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 3.003712494
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 6.0911289319 1440618
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.867296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.087505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.5119486331 9022650
MESH:D019457 Chromosome Breakage Sodium Selenite 5.5215894690
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.5512868966 2524372 18759878 14531868 8970840 8156756 11298694 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.103621924 2952479
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.2516285004
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.3311289319 18692083 1440618 18289764 9022650 9653073 9328219 6482804 18648102 16192314 7440962 6679447 8291058
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.3315131321
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 6.096705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.647505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.196705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.7015034207
MESH:D007333 Insulin Resistance Sodium Selenite 3.5714714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 6.099022650 8074119
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.406582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4715034207 9327722
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.80598648 3712494 1399818 6587162
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.6614737004
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.623581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.216679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.926482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 6.093988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.247296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.546228378
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3218760546
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.743692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.267505956 3712494 6587162 6582329 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.428074119
No data
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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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