AutismKB 2.0

Annotation Detail for LCT


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LCT ( LAC,LPH,LPH1 )
Gene Full Name: lactase
Band: 2q21.3
Quick LinksEntrez ID:3938; OMIM: 603202; Uniprot ID:LPH_HUMAN; ENSEMBL ID: ENSG00000115850; HGNC ID: 6530
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04973Carbohydrate digestion and absorption
hsa01100Metabolic pathways
hsa00052Galactose metabolism
Pathway IDPathway Name
Metabolism of carbohydrates
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of carbohydrate metabolism
H00116Congenital lactase deficiency
Genetic disorders
Desease IDDesease Name
1831Prostate cancer
2053Colon cancer
Desease Name
milk intolerance
colorectal cancer
calcium
fractures, nonvertebral
Lactose Intolerance
adult-type hypolactasia
CANCER
bone density
bone fractures
hypolactasia, adult-type
METABOLIC
No data
Desease Name
Lactase deficiency, congenital
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of LCT mRNAaffects expression 16483693
C014347 decitabine decitabine results in increased expression of LCT mRNAincreases expression 18845559
D005632 Fructose Fructose results in increased expression of LCT mRNAincreases expression 11242478
C006253 pirinixic acid pirinixic acid results in decreased expression of LCT mRNAdecreases expression 17426115
C058229 polydatin LCT protein results in increased hydrolysis of polydatin analogincreases hydrolysis 17009167
D013395 Sucrose Sucrose results in increased expression of LCT mRNAincreases expression 11242478
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001943 Breast Neoplasms decitabine 2.5419208741 18320071
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6619215824
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D003110 Colonic Neoplasms decitabine 2.3717616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D003327 Coronary Disease Fructose 4.6618504504
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003921 Diabetes Mellitus, Experimental Fructose 4.7618603373
MESH:D003924 Diabetes Mellitus, Type 2 Fructose 3.4418603373
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.6419294695
MESH:D005234 Fatty Liver Fructose 9.2219196556 18395287 18641190
MESH:D005234 Fatty Liver pirinixic acid 9.2219236843 20131406
MESH:D005355 Fibrosis Fructose 5.0818504504
MESH:D018149 Glucose Intolerance Fructose 5.6819165636
MESH:D006258 Head and Neck Neoplasms decitabine 3.6919215824
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4119772884 16221962 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006946 Hyperinsulinism Fructose 5.1618360027 19008412 15752949 14757778 18563319
MESH:D006949 Hyperlipidemias Fructose 5.1015752949
MESH:D006973 Hypertension Fructose 3.7119008412 14573337 14568997 14633139 16843071
MESH:D015228 Hypertriglyceridemia Fructose 5.3819342510 19799862
MESH:D007248 Infertility, Male decitabine 3.4017581917
MESH:D007333 Insulin Resistance Fructose 8.3119586609 14757778 14573337 17133782 18563319 19799862 18057795 19342510 14633139 19008412 18981581
MESH:D007333 Insulin Resistance pirinixic acid 8.3116306350
OMIM:223000 LACTASE DEFICIENCY, CONGENITAL marker/mechanism
OMIM:223100 LACTOSE INTOLERANCE, ADULT TYPE marker/mechanism
MESH:D007938 Leukemia decitabine 3.2119235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.3319117987 18454857 17236224
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4218206229 17679729 19387464 18460780 18704418 19010910
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.9818055864
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9120007298 15890375 16377806
MESH:D008223 Lymphoma decitabine 3.6419470736
MESH:D008545 Melanoma decitabine 2.2816505122 17785578
MESH:D024821 Metabolic Syndrome X Fructose 5.0919165636 18497449 16815490 17098227 17261469
MESH:D009101 Multiple Myeloma decitabine 3.5618172295
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5419010910 18608210 19157545 16882708
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms decitabine 5.4819116145 19470736 17925555
MESH:D009369 Neoplasms pirinixic acid 5.4817405874
MESH:D009765 Obesity Fructose 5.0617707055 18585860
MESH:D009765 Obesity pirinixic acid 5.0620558911
MESH:D010051 Ovarian Neoplasms decitabine 2.7219259094 19331143
MESH:D010190 Pancreatic Neoplasms decitabine 2.8519294695
MESH:D055728 Primary Myelofibrosis decitabine 5.1517616702
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012208 Rhabdomyosarcoma decitabine 4.7519155313
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013964 Thyroid Neoplasms decitabine 3.5717967635
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.8217616700 19087683
MESH:D014604 Uveal Neoplasms decitabine 5.4317785578
Pathway ID Pathway Name
KEGG:04973 Carbohydrate digestion and absorption
KEGG:00052 Galactose metabolism
KEGG:01100 Metabolic pathways
REACT:474 Metabolism of carbohydrates
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30315
  • No data
    Releated disease ID Related disease Name
    PA145007194Congenital lactase deficiency
    PA444711Lactose Intolerance
    Releated drug ID Related drug Name
    PA450161lactose
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00126 - Vitamin C Antioxidants;Essential Vitamins;Free Radical Scavengers;Vitamins (Vitamin C);Vitamins
    DB02376 - D-Gluconhydroximo-1,5-Lactam
    DB02471 - Nojirimycine Tetrazole
    DB02944 - Alpha-D-Mannose
    DB03389 - Xylopyranose
    DB03965 - Fucose
    DB04282 - 2-Deoxy-2fluoro-Glucose Beta-Glucosidase A Inhibitors
    DB04564 - Gluconolactone
    DB04659 - (1S,2S,3R,4S,5S)-2,3,4-TRIHYDROXY-5-(HYDROXYMETHYL)CYCLOHEXYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE
    DB04779 - ETHYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE
    DB08558 - 2-HYDROXYMETHYL-6-OCTYLSULFANYL-TETRAHYDRO-PYRAN-3,4,5-TRIOL
    No data
    No data
    No data

    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