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#617049 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5
Gene summaries Genetic tests Medical literature
#614279 - 46,XY SEX REVERSAL 8; SRXY8
Cytogenetic locations: 1p36, 1p36
#613812 - BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3
Cytogenetic locations: -
#607765 - BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1
*607764 - 3-@BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7
*606530 - CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1
*604741 - ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1
Cytogenetic locations: Zinc
*603966 - ALDO-KETO REDUCTASE FAMILY 1, MEMBER C3; AKR1C3
Cytogenetic locations: @#*###
*603826 - NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4
Cytogenetic locations: 0#####
*603711 - CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1
*602691 - NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1
Cytogenetic locations: #z####
*602172 - CYTOCHROME P450, SUBFAMILY VIIIB, POLYPEPTIDE 1; CYP8B1
Cytogenetic locations: 3p22.1
*601993 - NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2
TIF2/MOZ FUSION GENE, INCLUDED
*601699 - PROSTAGLANDIN I2 SYNTHASE; PTGIS
Cytogenetic locations: ?Craniofacial
*600451 - ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4
*600450 - ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2
Cytogenetic locations: v####
*600449 - ALDO-KETO REDUCTASE FAMILY 1, MEMBER 1; AKR1C1
#270800 - SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
#235555 - BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2
#213700 - CEREBROTENDINOUS XANTHOMATOSIS; CTX
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