Progressive intrahepatic cholestasis

Disease Term Disease ID Gene Symbol Classification References Source
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1
79306MONDO:0008892
ATP8B1 Causal
15317749 5762004 11093741 9500542 20301474
ClinVar GenCC Orphanet
MYO5B Unknown
27532546
GWAS catalog Orphanet
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
79304MONDO:0011156
ABCB11 Causal
15791618 9806540 10579978 16039748
ClinVar Disgenet Orphanet
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3
MONDO:001121479305
ABCB11 Causal — ClinVar
ABCB4 Causal
11313315 17726488 21119540 23715323 26474921 32793533 33340584 7734012 7977654 8666348 9419367
CTD ClinGen ClinVar Orphanet
ATP8B1 Unknown — ClinVar
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 4
480483
TJP2 Unknown
24614073 26983395
Orphanet
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5
480476
NR1H4 Unknown
26888176
Orphanet
PROGRESSIVE INTRAHEPATIC CHOLESTASIS
C0268312
ABCB11 Unknown — Disgenet
ABCB4 Unknown — Disgenet
ATP8B1 Unknown — Disgenet
GLB1 Unknown — Disgenet
KIF12 Unknown — Disgenet
MYO5B Unknown — Disgenet
SEMA7A Unknown — Disgenet
SLC51A Unknown — Disgenet
USP53 Unknown — Disgenet
VPS33B Unknown — Disgenet
ZFYVE19 Unknown — Disgenet