Annotation Detail for PKHD1
Basic Information
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| Gene Symbol: | PKHD1 ( ARPKD,DKFZp686C01112,FCYT,FLJ46150,TIGM1 ) |
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| Gene Full Name: | polycystic kidney and hepatic disease 1 (autosomal recessive) |
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| Band: | 6p12.3-p12.2 |
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| Quick Links | Entrez ID:5314; OMIM: 606702; Uniprot ID:PKHD1_HUMAN; ENSEMBL ID: ENSG00000170927; HGNC ID: 9016 |
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| Relate to Another Database: |
SFARIGene;
denovo-db |
| Desease ID | Desease Name |
|---|
| 1883 | Polycystic kidney |
| 1955 | Urogenital abnormalities |
| 2008 | Liver disease |
| Desease Name |
|---|
| prostate cancer |
| CANCER |
| METABOLIC |
| waist circumference |
| Desease Name |
|---|
| Waist circumference |
| Prostate cancer |
| Desease Name |
|---|
| Polycystic kidney and hepatic disease |
| Chemical ID |
Chemical Name |
Interaction |
Interaction Action |
Publication |
|---|
| D001104 |
Arbutin |
Arbutin results in decreased expression of PKHD1 mRNA | decreases expression | 17103032
|
| D010634 |
Phenobarbital |
NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of PKHD1 mRNA] | affects reaction|decreases expression | 19482888
|
| D010634 |
Phenobarbital |
Phenobarbital results in decreased expression of PKHD1 mRNA | decreases expression | 19270015
19482888
|
| C006253 |
pirinixic acid |
[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PKHD1 mRNA | affects binding|increases activity|increases expression | 19710929
|
| Disease ID |
Disease Name |
Direct Evidence |
Inference Chemical Name |
Inference Score |
Publication |
|---|
| MESH:D000014 |
Abnormalities, Drug-Induced |
|
Phenobarbital |
4.18 | 6195326 |
| MESH:D055371 |
Acute Lung Injury |
|
pirinixic acid |
3.64 | 18653653 |
| MESH:D018248 |
Adenoma, Liver Cell |
|
Phenobarbital |
12.73 | 17620307 |
| MESH:D018248 |
Adenoma, Liver Cell |
|
pirinixic acid |
12.73 | 16434500 |
| MESH:D001778 |
Blood Coagulation Disorders |
|
pirinixic acid |
3.63 | 19483382 |
| MESH:D006528 |
Carcinoma, Hepatocellular |
|
Phenobarbital |
1.95 | 6705139 20007298 17173139 1701930 20935162 |
| MESH:D002493 |
Central Nervous System Diseases |
|
Phenobarbital |
4.90 | 4080065 |
| MESH:D002779 |
Cholestasis |
|
pirinixic acid |
3.15 | 19176532 |
| MESH:D003876 |
Dermatitis, Atopic |
|
pirinixic acid |
2.59 | 18249437 |
| MESH:D004421 |
Dystonia |
|
Phenobarbital |
4.53 | 1851702 |
| MESH:D004487 |
Edema |
|
pirinixic acid |
2.96 | 12083418 |
| MESH:D004831 |
Epilepsies, Myoclonic |
|
Phenobarbital |
4.76 | 3659116 |
| MESH:D004828 |
Epilepsies, Partial |
|
Phenobarbital |
4.74 | 3922381 11558140 |
| MESH:D004827 |
Epilepsy |
|
Phenobarbital |
3.08 | 20417680 |
| MESH:D004832 |
Epilepsy, Absence |
|
Phenobarbital |
3.96 | 6401628 |
| MESH:D017029 |
Epilepsy, Complex Partial |
|
Phenobarbital |
4.90 | 7750514 |
| MESH:D004830 |
Epilepsy, Tonic-Clonic |
|
Phenobarbital |
4.76 | 3659116 |
| MESH:D005234 |
Fatty Liver |
|
pirinixic acid |
3.25 | 20131406 19236843 |
| MESH:D006333 |
Heart Failure |
|
pirinixic acid |
2.78 | 20558911 |
| MESH:D006529 |
Hepatomegaly |
|
Phenobarbital |
10.74 | 16109766 |
| MESH:D006529 |
Hepatomegaly |
|
pirinixic acid |
10.74 | 19176532 16221962 18467677 19772884 |
| MESH:D006943 |
Hyperglycemia |
|
pirinixic acid |
3.63 | 20558911 |
| MESH:D007333 |
Insulin Resistance |
|
pirinixic acid |
2.90 | 16306350 |
| MESH:D008103 |
Liver Cirrhosis |
|
Phenobarbital |
3.10 | 21047994 |
| MESH:D008106 |
Liver Cirrhosis, Experimental |
|
pirinixic acid |
1.35 | 15474484 |
| MESH:D008107 |
Liver Diseases |
|
Phenobarbital |
2.25 | 19363144 |
| MESH:D008113 |
Liver Neoplasms |
|
Phenobarbital |
4.91 | 19482888 19073162 8742319 15975961 21047994 19812893 |
| MESH:D008113 |
Liver Neoplasms |
|
pirinixic acid |
4.91 | 15890375 16377806 20007298 |
| MESH:D008114 |
Liver Neoplasms, Experimental |
|
Phenobarbital |
2.95 | 1399818 18308698 2563599 17172636 6150874 |
| MESH:D009135 |
Muscular Diseases |
|
pirinixic acid |
4.16 | 16239165 |
| MESH:D009203 |
Myocardial Infarction |
|
pirinixic acid |
2.29 | 19151258 |
| MESH:D015428 |
Myocardial Reperfusion Injury |
|
pirinixic acid |
3.29 | 16411023 |
| MESH:D020191 |
Myoclonic Epilepsies, Progressive |
|
Phenobarbital |
5.22 | 17484760 |
| MESH:D009369 |
Neoplasms |
|
pirinixic acid |
2.12 | 17405874 |
| MESH:D009765 |
Obesity |
|
pirinixic acid |
1.89 | 20558911 |
| MESH:D010018 |
Osteomalacia |
|
Phenobarbital |
5.11 | 17016548 |
| MESH:D010190 |
Pancreatic Neoplasms |
|
Phenobarbital |
2.61 | 16965848 |
| MESH:D017044 |
Polycystic Kidney, Autosomal Recessive |
marker/mechanism |
|
| 16133180 |
| MESH:D011230 |
Precancerous Conditions |
|
Phenobarbital |
4.04 | 2563599 |
| MESH:D019310 |
Pseudolymphoma |
|
Phenobarbital |
5.36 | 12752131 |
| MESH:D015427 |
Reperfusion Injury |
|
pirinixic acid |
2.56 | 19058328 |
| MESH:D012640 |
Seizures |
|
Phenobarbital |
2.97 | 16876388 11442880 3137016 4039156 |
| MESH:D003294 |
Seizures, Febrile |
|
Phenobarbital |
5.56 | 6407741 |
| MESH:D013964 |
Thyroid Neoplasms |
|
Phenobarbital |
3.39 | 1399818 |
PharmGKB Accession:PA33348
| Releated disease ID |
Related disease Name |
| PA445425 | Prostatic Neoplasms |
| PA446429 | Polycystic Kidney, Autosomal Recessive |
| PA443756 | Colonic Neoplasms |
Related Pathway Information