Human | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | |
Human | HEY2 | 23493 | hairy/enhancer-of-split related with YRPW motif 2 | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | SLC25A13 | 10165 | solute carrier family 25 (aspartate/glutamate carrier), member 13 | |
Human | NR1H4 | 9971 | nuclear receptor subfamily 1, group H, member 4 | Functional variants of FXR may predispose to intrahepatic cholestasis of pregnancy |
Human | NR1I2 | 8856 | nuclear receptor subfamily 1, group I, member 2 | The purpose of this study was to evaluate the role of coding variation in hPXR (NR1I2) in intrahepatic cholestasis of pregnancy (ICP) and to functionally asses the response of PXR variants to ligands of interest in ICP |
Human | ABCB11 | 8647 | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | Functional characterization of novel ABCB11 mutations encountered in two patients with intrahepatic cholestasis |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | SHBG | 6462 | sex hormone-binding globulin | Intrahepatic cholestasis of pregnancy is associated with blunted responses of SHBG to oral estrogen |
Human | SC5DL | 6309 | | |
Human | ABCB4 | 5244 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | Intrahepatic cholestasis during pregnancy Carrier females may develop intrahepatic cholestasis of pregnancy (ICP, {147480}) This study demonstrates that splicing mutations in the MDR3 gene can cause intrahepatic cholestasis of pregnancy with normal gamma-GT and may be associated with stillbirths and gallstone disease sequence variation in women with intrahepatic cholestasis of pregnancy MDR3 mutations are responsible for the development of intrahepatic cholestasis of pregnancy in only a small percentage of Italian women |
Human | ATP8B1 | 5205 | ATPase, aminophospholipid transporter, class I, type 8B, member 1 | Allelic disorder to intrahepatic cholestasis of pregnancy (ICP, {147480}) Intrahepatic cholestasis, episodic, recurrent |
Human | NOTCH2 | 4853 | notch 2 | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | NOS2 | 4843 | nitric oxide synthase 2, inducible | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | ITGAL | 3683 | integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | ICAM1 | 3383 | intercellular adhesion molecule 1 | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | HLA-DRB1 | 3123 | | investigation of the association of polymorphisms of HLA class II DRB1 & DQB1 alleles & risk for intrahepatic cholestasis of pregnancy (ICP); results indicate that HLA-DR11 allele is associated with the susceptibility of ICP in the Chinese Changsha area |
Human | HLA-DQB1 | 3119 | | investigation of the association of polymorphisms of HLA class II DRB1 & DQB1 alleles & risk for intrahepatic cholestasis of pregnancy (ICP); results indicate that HLA-DR11 allele is associated with the susceptibility of ICP in the Chinese Changsha area |
Human | ABCC2 | 1244 | ATP-binding cassette, sub-family C (CFTR/MRP), member 2 | we observed that haplotype frequency of the ABCC2 gene in intrahepatic cholestasis of pregnancy patients significantly differed from controls |
Human | CFTR | 1080 | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | ENTPD2 | 954 | ectonucleoside triphosphate diphosphohydrolase 2 | INFERRED, Score=800, UMLKSK CUI: C0008372 |
Human | JAG1 | 182 | jagged 1 | INFERRED, Score=800, UMLKSK CUI: C0008372 |