Phenotype: Cholangitis (HP:0030151)
Associated genes and diseases:
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: ABCD1
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: ABCB4
disease_id: ORPHA:69663
disease_name: Low phospholipid-associated cholelithiasis
ABCB4-related cholelithiasis
LPAC
gene_symbol: ABCB4
disease_id: OMIM:600803
disease_name: GALLBLADDER DISEASE 1
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CIITA
disease_id: OMIM:209920
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE II
gene_symbol: IL21R
disease_id: OMIM:615207
disease_name: IMMUNODEFICIENCY 56
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: ITCH
disease_id: ORPHA:228426
disease_name: Syndromic multisystem autoimmune disease due to Itch deficiency
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:53035
disease_name: Caroli disease
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1