AutismKB 2.0

Annotation Detail for NPHP1


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Basic Information Top
Gene Symbol:NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name: nephronophthisis 1 (juvenile)
Band: 2q13
Quick LinksEntrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061; HGNC ID: 7905
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
Joubert syndrome
Joubert syndrome nephronophthisis
NEUROLOGICAL
No data
Desease Name
Joubert syndrome 4
Senior-Loken syndrome-1
Nephronophthisis 1, juvenile
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NPHP1 mRNAaffects expression 17562736
D043343 Testosterone Propionate Testosterone Propionate results in decreased expression of NPHP1 mRNAdecreases expression 15601916
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.9110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8310977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6811834606 16177239 11287661 12392966 16227642 19420014 14725611 16109766 16781746 16081117 11461765 19164858 18071297 18713872 19416960 16393943 12153990 11739529 12540782 15619225 14550746 11743745 14986274 19085960 15968718 12958197 17522070 11529661 11421492 10663392 12705907 2444490 19739265 16485898 17906064 10774834 10915739 19923254 17562736 19370779 12594235
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.1719426721
MESH:D005756 Gastritis Acetaminophen 4.7416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1116870215
MESH:C536296 Joubert syndrome 4 marker/mechanism
MESH:D007674 Kidney Diseases Acetaminophen 2.4412587719 15629191
MESH:D008107 Liver Diseases Acetaminophen 1.7116610002 19014921 16611625 19784758 11587558 12969438 12587719 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.7417185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.3319513568
OMIM:256100 NEPHRONOPHTHISIS 1 marker/mechanism
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3118514411
MESH:D010146 Pain Acetaminophen 2.8216870215
OMIM:266900 SENIOR-LOKEN SYNDROME 1 marker/mechanism
MESH:D014581 Urticaria Acetaminophen 3.5810982225
No data
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Syndromic Genes

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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