eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	intrahepatic cholestasis

Disease ID	1083
Disease	intrahepatic cholestasis
Definition	Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC).
Synonym	bile duct obstruction, intrahepatic biliary stases, intrahepatic biliary stasis, intrahepatic cholestases, intrahepatic cholestasis intrahepatic cholestasis, intrahepatic cholestasis, intrahepatic [disease/finding] intrahepatic biliary stases intrahepatic biliary stasis intrahepatic cholestases intrahepatic cholestasis (finding)
DOID	DOID:1852
UMLS	C0008372
MeSH	D002780
SNOMED-CT	SNOMEDCT_US_2016_09_01:4637005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0019343 \| pemphigoid gestationis \| 4 C0023890 \| cirrhosis \| 3 C0019158 \| hepatitis \| 3 C0030805 \| pemphigoid \| 3 C0019196 \| hepatitis c \| 2 C0023890 \| liver cirrhosis \| 2 C0042109 \| urticarial \| 2 C0042769 \| virus infection \| 1 C0032285 \| pneumoniae \| 1 C0037274 \| dermatoses \| 1 C0010674 \| cystic fibrosis \| 1 C0019196 \| hepatitis c infection \| 1 C0019163 \| hepatitis b \| 1 C0023895 \| liver diseases \| 1 C0002895 \| sickle cell disease \| 1 C0023895 \| liver disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 10165 \| SLC25A13 \| UniProtKB-KW 80270 \| HSD3B7 \| UniProtKB-KW 5244 \| ABCB4 \| GHR;UNIPROT;UniProtKB-KW 8647 \| ABCB11 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 4094 \| MAF \| CTD_human 5205 \| ATP8B1 \| CTD_human;UniProtKB-KW;UNIPROT 1958 \| EGR1 \| CTD_human 6718 \| AKR1D1 \| UniProtKB-KW 9420 \| CYP7B1 \| UniProtKB-KW 1174 \| AP1S1 \| CTD_human 9414 \| TJP2 \| CTD_human;UniProtKB-KW 9971 \| NR1H4 \| UniProtKB-KW 4097 \| MAFG \| CTD_human 23600 \| AMACR \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) 8647 \| ABCB11 \| CIPHER;CTD_human 1586 \| CYP17A1 \| CIPHER 1576 \| CYP3A4 \| CIPHER 4094 \| MAF \| CTD_human 5205 \| ATP8B1 \| CTD_human 1174 \| AP1S1 \| CTD_human 4097 \| MAFG \| CTD_human 9414 \| TJP2 \| CTD_human 1958 \| EGR1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 1244 \| ABCC2 \| 3.848 \| DISEASES 10257 \| ABCC4 \| 3.56 \| DISEASES 10057 \| ABCC5 \| 1.787 \| DISEASES 81792 \| ADAMTS12 \| 1.823 \| DISEASES 174 \| AFP \| 1.88 \| DISEASES 22977 \| AKR7A3 \| 2.133 \| DISEASES 1174 \| AP1S1 \| 2.165 \| DISEASES 8905 \| AP1S2 \| 1.039 \| DISEASES 286410 \| ATP11C \| 3.232 \| DISEASES 10396 \| ATP8A1 \| 2.342 \| DISEASES 51761 \| ATP8A2 \| 3.177 \| DISEASES 57198 \| ATP8B2 \| 3.069 \| DISEASES 388552 \| BLOC1S3 \| 2.319 \| DISEASES 10498 \| CARM1 \| 1.257 \| DISEASES 147372 \| CCBE1 \| 2.041 \| DISEASES 959 \| CD40LG \| 1.641 \| DISEASES 1395 \| CRHR2 \| 1.588 \| DISEASES 1443 \| CSH2 \| 1.254 \| DISEASES 1576 \| CYP3A4 \| 1.018 \| DISEASES 285193 \| DUSP28 \| 3.484 \| DISEASES 6785 \| ELOVL4 \| 1.188 \| DISEASES 2100 \| ESR2 \| 1.76 \| DISEASES 7430 \| EZR \| 1.003 \| DISEASES 2172 \| FABP6 \| 1.613 \| DISEASES 2555 \| GABRA2 \| 1.484 \| DISEASES 2730 \| GCLM \| 1.924 \| DISEASES 728441 \| GGT2 \| 4.335 \| DISEASES 151306 \| GPBAR1 \| 3.241 \| DISEASES 11245 \| GPR176 \| 2.262 \| DISEASES 57000 \| GSN-AS1 \| 1.626 \| DISEASES 2939 \| GSTA2 \| 1.448 \| DISEASES 3030 \| HADHA \| 5.208 \| DISEASES 3096 \| HIVEP1 \| 2.342 \| DISEASES 3113 \| HLA-DPA1 \| 1.334 \| DISEASES 3135 \| HLA-G \| 1.159 \| DISEASES 3155 \| HMGCL \| 1.462 \| DISEASES 3709 \| ITPR2 \| 1.543 \| DISEASES 3801 \| KIFC3 \| 2.287 \| DISEASES 8513 \| LIPF \| 2.153 \| DISEASES 348801 \| LNP1 \| 1.873 \| DISEASES 4018 \| LPA \| 1.219 \| DISEASES 4539 \| MT-ND4L \| 1.765 \| DISEASES 4638 \| MYLK \| 1.553 \| DISEASES 9971 \| NR1H4 \| 4.669 \| DISEASES 8856 \| NR1I2 \| 4.137 \| DISEASES 9970 \| NR1I3 \| 3.538 \| DISEASES 5174 \| PDZK1 \| 1.412 \| DISEASES 9698 \| PUM1 \| 1.961 \| DISEASES 6048 \| RNF5 \| 2.254 \| DISEASES 6256 \| RXRA \| 1.611 \| DISEASES 5265 \| SERPINA1 \| 1.487 \| DISEASES 10864 \| SLC22A7 \| 1.309 \| DISEASES 8604 \| SLC25A12 \| 2.763 \| DISEASES 10165 \| SLC25A13 \| 6.948 \| DISEASES 51312 \| SLC25A37 \| 3.361 \| DISEASES 123264 \| SLC51B \| 2.789 \| DISEASES 54716 \| SLC6A20 \| 1.939 \| DISEASES 53919 \| SLCO1C1 \| 2.426 \| DISEASES 9414 \| TJP2 \| 2.95 \| DISEASES 161291 \| TMEM30B \| 2.626 \| DISEASES 7124 \| TNF \| 1.443 \| DISEASES 51592 \| TRIM33 \| 1.214 \| DISEASES 51733 \| UPB1 \| 2.088 \| DISEASES 63894 \| VIPAS39 \| 2.149 \| DISEASES 26276 \| VPS33B \| 3.138 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1083
Disease	intrahepatic cholestasis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0000952 \| Yellow skin \| 5 HP:0012115 \| Liver inflammation \| 3 HP:0001399 \| Liver failure \| 3 HP:0001394 \| Hepatic cirrhosis \| 3 HP:0200034 \| Papule \| 2 HP:0000989 \| pruritis \| 2 HP:0011854 \| Hemoperitoneum \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0001548 \| Overgrowth \| 1 HP:0200119 \| Acute liver inflammation \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0011675 \| Arrhythmias \| 1

Disease ID	1083
Disease	intrahepatic cholestasis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C2203646 \| jaundice C1963165 \| malabsorption C1839611 \| n syndrome C0853882 \| reticuloendothelial dysfunction C0745091 \| hypereosinophilia C0343065 \| dermographism C0239946 \| hepatic fibrosis C0038325 \| stevens-johnson syndrome C0033774 \| pruritus C0027613 \| neonatal hepatitis C0019158 \| hepatitis C0005779 \| blood coagulation disorders
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0022346 \| jaundice \| 5 C0019158 \| hepatitis \| 3 C0033774 \| pruritus \| 2

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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.)

Disease ID	1083
Disease	intrahepatic cholestasis
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter