PedAM

Pediatric Disease Annotations & Medicines


	cholestasis, progressive familial intrahepatic 1

Disease ID	1931
Disease	cholestasis, progressive familial intrahepatic 1
Synonym	bric1 byler disease byler syndrome byler's disease byler's syndrome cholestasis familial intrahepatic cholestasis, benign recurrent intrahepatic 1 cholestasis, benign recurrent intrahepatic, 1 cholestasis, fatal intrahepatic cholestasis, progressive familial intrahepatic, 1 familial intrahepatic cholestasis fatal intrahepatic cholestasis fic1 deficiency pfic1 progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis type 1 (pfic 1) progressive familial intrahepatic cholestasis type 1 (pfic1) progressive intrahepatic cholestasis progressive intrahepatic cholestasis (disorder) summerskill syndrome
Orphanet	ORPHANET:284385 ORPHANET:172
OMIM	OMIM:211600 OMIM:243300
UMLS	C2697401
SNOMED-CT	SNOMEDCT_US_2016_09_01:74162007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0023890 \| cirrhosis \| 2 C0023890 \| liver cirrhosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) ATP8B1 \| 5205 \| CLINVAR;CTD_human;ORPHANET;UNIPROT ABCB11 \| 8647 \| CTD_human ABCB4 \| 5244 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1931
Disease	cholestasis, progressive familial intrahepatic 1
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:14) HP:0002908 \| Conjugated hyperbilirubinemia HP:0001394 \| Hepatic cirrhosis HP:0001744 \| Splenomegaly HP:0000952 \| Yellow skin HP:0002630 \| Fat malabsorption HP:0000989 \| pruritis HP:0002014 \| Diarrhea HP:0006575 \| Intrahepatic cholestasis with episodic jaundice HP:0001046 \| Intermittent jaundice HP:0003510 \| Proportionate dwarfism HP:0001733 \| Pancreatic inflammation HP:0000365 \| Hearing impairment HP:0002240 \| Enlarged liver HP:0001508 \| Weight faltering
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001394 \| Hepatic cirrhosis \| 2 HP:0001548 \| Overgrowth \| 1

Disease ID	1931
Disease	cholestasis, progressive familial intrahepatic 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111033609	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC105372142	18	57695188	C	A
rs121909099	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC105372142	18	57695248	A	G
rs121909100	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC100505549	18	57669433	A	G
rs121909101	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1	18	57674993	C	T
rs121909104	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC105372142	18	57688361	G	A
rs121909105	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1	18	57674849	G	A
rs28939685	15239083	5205	ATP8B1	umls:C0268312	UNIPROT	ATP8B1 mutations were detected in 30% and 41%, respectively, of the PFIC and BRIC patients screened.	0.489229024	2004	NA	NA	NA	NA	NA
rs28939685	19731236	5205	ATP8B1	umls:C0268312	UNIPROT	Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.	0.489229024	2009	NA	NA	NA	NA	NA
rs28939686	15239083	5205	ATP8B1	umls:C0268312	UNIPROT	ATP8B1 mutations were detected in 30% and 41%, respectively, of the PFIC and BRIC patients screened.	0.489229024	2004	NA	NA	NA	NA	NA
rs387906381	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC100505549	18	57669316	A	G
rs515726137	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC100505549	18	57669422	C	A
rs515726138	NA	5205	ATP8B1	umls:C0268312	CLINVAR	NA	0.489229024	NA	ATP8B1;LOC105372142	18	57697797	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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