|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
treatment susceptibility |
IDA IEP ISO |
mRNA:altered expression:liver (rat) protein:decreased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11179459 PMID:22461449 PMID:24713091 PMID:12702498 PMID:27090119 PMID:27593105 PMID:29087027 More...
|
RGD:1598571, RGD:15090804, RGD:14402414, RGD:14402412 |
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcb1b |
ATP-binding cassette, sub-family B member 1B |
|
IEP |
|
RGD |
PMID:11680581 |
RGD:1598589 |
NCBI chr 4:26,197,706...26,280,156
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
IEP ISO ISS |
DNA:mutations: : |
MouseDO RGD |
PMID:11680581 PMID:26324191 |
RGD:1598589, RGD:11565494 |
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment disease_progression |
IAGP IEP ISO IMP |
mRNA:altered expression:liver (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression:intestine: mRNA,protein:decreased expression:intestine: |
CTD RGD |
PMID:10869290 PMID:17681005 PMID:22521610 PMID:12702498 PMID:27090119 PMID:17009103 PMID:15057744 PMID:15057744 PMID:16037978 More...
|
RGD:1598571, RGD:15090804, RGD:11081011, RGD:11081007, RGD:11081007, RGD:1598614 |
NCBI chr 1:252,613,875...252,672,459
|
|
G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
|
IEP ISO |
protein:increased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22461449 PMID:18096675 PMID:23486593 |
RGD:2301060, RGD:11535162 |
NCBI chr10:79,793,571...79,839,528
|
|
G |
Abcc4 |
ATP binding cassette subfamily C member 4 |
treatment |
IEP |
protein:altered expression:kidney, liver |
RGD |
PMID:15030973 PMID:30223280 |
RGD:2301085, RGD:15045612 |
NCBI chr15:101,948,387...102,182,912
|
|
G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
IEP |
|
RGD |
PMID:16764892 |
RGD:1598662 |
NCBI chr 6:9,965,118...9,990,563
|
|
G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
|
IEP |
|
RGD |
PMID:16764892 |
RGD:1598662 |
NCBI chr 6:9,945,629...9,964,912
|
|
G |
Ace |
angiotensin I converting enzyme |
|
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:30458228 |
RGD:25671450 |
NCBI chr10:91,410,129...91,430,246
|
|
G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
IEP |
mRNA, protein:increased expression, increased activity:liver, plasma (rat) |
RGD |
PMID:19652891 |
RGD:2315953 |
NCBI chr 3:10,299,264...10,338,464
|
|
G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:19806079 |
RGD:5129088 |
NCBI chr 2:226,975,184...226,987,591
|
|
G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr19:69,426,540...69,447,017
|
|
G |
Alb |
albumin |
|
ISO |
|
RGD |
PMID:6431134 |
RGD:11035297 |
NCBI chr14:17,891,564...17,907,043
|
|
G |
Aldh1b1 |
aldehyde dehydrogenase 1 family, member B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 5:60,063,370...60,068,378
|
|
G |
Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
treatment |
IEP |
|
RGD |
PMID:30223280 |
RGD:15045612 |
NCBI chr 4:123,059,989...123,106,471
|
|
G |
Aldh8a1 |
aldehyde dehydrogenase 8 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 1:16,183,940...16,203,385
|
|
G |
Apoc3 |
apolipoprotein C3 |
|
IEP |
|
RGD |
PMID:17201892 |
RGD:10054045 |
NCBI chr 8:46,531,478...46,533,658
|
|
G |
Apoe |
apolipoprotein E |
|
ISO |
associated with Pancreatic Neoplasms;protein:increased expression:plasma |
RGD |
PMID:19055369 |
RGD:2317548 |
NCBI chr 1:88,481,889...88,485,816
|
|
G |
Arg1 |
arginase 1 |
|
IEP |
protein:altered activity:liver (rat) |
RGD |
PMID:15916970 |
RGD:4143230 |
NCBI chr 1:22,295,093...22,307,720
|
|
G |
Bcat1 |
branched chain amino acid transaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 4:179,695,662...179,777,973
|
|
G |
Bex4 |
brain expressed, X-linked 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr X:99,131,985...99,133,417
|
|
G |
Blvra |
biliverdin reductase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chr 3:114,340,778...114,366,048
|
|
G |
Bmal1 |
basic helix-loop-helix ARNT like 1 |
|
IEP |
mRNA:increased expression:cholangiocyte |
RGD |
PMID:21757639 |
RGD:10043349 |
NCBI chr 1:176,766,222...176,864,741
|
|
G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr11:17,030,156...17,046,069
|
|
G |
Cadps2 |
calcium dependent secretion activator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 4:52,746,054...53,275,252
|
|
G |
Cat |
catalase |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27989131 PMID:21339256 |
RGD:5130873 |
NCBI chr 3:110,297,340...110,329,526
|
|
G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr10:67,514,095...67,515,945
|
|
G |
Cd14 |
CD14 molecule |
|
IEP |
|
RGD |
PMID:22511970 |
RGD:7183752 |
NCBI chr18:28,609,558...28,611,409
|
|
G |
Cd44 |
CD44 molecule |
|
IEP |
protein:decreased expression:jejunum, ileum |
RGD |
PMID:16804311 |
RGD:2289372 |
NCBI chr 3:109,610,824...109,699,776
|
|
G |
Cftr |
CF transmembrane conductance regulator |
|
IEP |
mRNA,Protein:increased expression |
RGD |
PMID:15605366 |
RGD:1599598 |
NCBI chr 4:47,422,084...47,694,646
|
|
G |
Clock |
clock circadian regulator |
|
IEP |
mRNA:increased expression:cholangiocyte |
RGD |
PMID:21757639 |
RGD:10043349 |
NCBI chr14:32,262,747...32,346,872
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26884397 |
|
NCBI chr 5:53,204,867...53,230,396
|
|
G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26884397 |
|
NCBI chr 5:153,408,968...153,435,092
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
ISO IEP IDA |
mRNA:increased expression:liver (mouse) mRNA:increased expression:liver (rat) |
RGD |
PMID:22094456 PMID:22824087 PMID:21274875 |
RGD:8552675, RGD:8552776, RGD:8552699 |
NCBI chr10:80,380,458...80,397,461
|
|
G |
Cp |
ceruloplasmin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:29523470 |
RGD:14401716 |
NCBI chr 2:104,368,336...104,427,119
|
|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
associated with Chronic Hepatitis C; protein:increased expression:serum: |
RGD |
PMID:30507970 |
RGD:27095896 |
NCBI chr14:15,989,066...15,991,263
|
|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr14:17,465,210...17,467,255
|
|
G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27565560 |
|
NCBI chr 8:66,971,261...66,978,149
|
|
G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15795599 |
|
NCBI chr 9:83,712,402...83,743,222
|
|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
|
NCBI chr 1:90,780,468...90,859,852
|
|
G |
Cyp3a2 |
cytochrome P450, family 3, subfamily a, polypeptide 2 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr12:14,321,771...14,343,886
|
|
G |
Cyp3a23-3a1 |
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr12:14,369,950...14,398,803
|
|
G |
Cyp7a1 |
cytochrome P450 family 7 subfamily A member 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9797378 PMID:22461449 PMID:29655695 |
RGD:15090803 |
NCBI chr 5:24,174,505...24,184,202
|
|
G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9802883 |
|
NCBI chr 2:102,419,011...102,586,047
|
|
G |
Cyp8b1 |
cytochrome P450 family 8 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
|
NCBI chr 8:130,455,622...130,457,592
|
|
G |
Dgat2 |
diacylglycerol O-acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 1:153,454,078...153,484,432
|
|
G |
Dnajb9 |
DnaJ heat shock protein family (Hsp40) member B9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 6:66,997,842...67,007,371
|
|
G |
Dnajc12 |
DnaJ heat shock protein family (Hsp40) member C12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr20:25,246,744...25,267,508
|
|
G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr18:26,737,078...26,740,877
|
|
G |
Ehhadh |
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:79,241,927...79,275,173
|
|
G |
Eng |
endoglin |
|
IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:21146604 |
RGD:7257529 |
NCBI chr 3:36,332,190...36,370,324
|
|
G |
Erlec1 |
endoplasmic reticulum lectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr14:108,856,661...108,894,511
|
|
G |
F2rl3 |
F2R like thrombin or trypsin receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974703 |
|
NCBI chr16:17,117,441...17,119,434
|
|
G |
Fga |
fibrinogen alpha chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974703 |
|
NCBI chr 2:170,672,169...170,679,572
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
IEP |
|
RGD |
PMID:18802767 |
RGD:2307352 |
NCBI chr X:157,352,364...157,372,144
|
|
G |
Ghr |
growth hormone receptor |
|
ISO |
mRNA,protein:decreased expression:liver, skeletal muscle: |
RGD |
PMID:15604202 |
RGD:11567216 |
NCBI chr 2:52,541,452...52,804,960
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
treatment |
IDA |
|
RGD |
PMID:25932098 |
RGD:14701043 |
NCBI chr 2:198,338,005...198,346,007
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
treatment |
IEP |
|
RGD |
PMID:23960717 |
RGD:10401941 |
NCBI chr 1:210,767,237...210,770,242
|
|
G |
Gtpbp2 |
GTP binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 9:14,813,964...14,823,419
|
|
G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr16:6,826,881...6,863,027
|
|
G |
Hao2 |
hydroxyacid oxidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 2:186,200,137...186,232,997
|
|
G |
Hjv |
hemojuvelin BMP co-receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 2:186,754,801...186,758,708
|
|
G |
Hoga1 |
4-hydroxy-2-oxoglutarate aldolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 1:240,856,991...240,884,243
|
|
G |
Hp |
haptoglobin |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:12940443 |
RGD:1626374 |
NCBI chr19:54,449,151...54,453,701
|
|
G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25526675 |
|
NCBI chr 1:191,842,688...191,845,919
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Id1 |
inhibitor of DNA binding 1 |
|
IEP |
protein:increased expression:liver, nucleus (rat) |
RGD |
PMID:16628634 |
RGD:9686088 |
NCBI chr 3:161,671,525...161,672,691
|
|
G |
Id4 |
inhibitor of DNA binding 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr17:16,389,387...16,391,956
|
|
G |
Igf1 |
insulin-like growth factor 1 |
|
IEP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:12826230 PMID:18607346 |
RGD:10046052 |
NCBI chr 7:24,169,608...24,249,446
|
|
G |
Il1a |
interleukin 1 alpha |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:19535096 |
RGD:2311076 |
NCBI chr 3:136,979,804...136,990,236
|
|
G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:29698570 |
RGD:14928214 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il4 |
interleukin 4 |
|
IEP |
|
RGD |
PMID:20031157 |
RGD:2317270 |
NCBI chr10:38,272,003...38,277,549
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22461449 |
|
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Invs |
inversin |
|
ISO |
|
RGD |
PMID:10421642 |
RGD:155791685 |
NCBI chr 5:67,406,511...67,559,355
|
|
G |
Kank1 |
KN motif and ankyrin repeat domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 1:232,381,720...232,500,834
|
|
G |
Kmt2b |
lysine methyltransferase 2B |
|
ISO |
mRNA:decreased expression:liver (mouse) |
RGD |
PMID:21330447 |
RGD:9588602 |
NCBI chr 1:85,821,700...85,840,987
|
|
G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:28124283 |
RGD:13703118 |
NCBI chr X:122,038,734...122,087,745
|
|
G |
Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
|
IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:28124283 |
RGD:13703118 |
|
|
G |
Ly96 |
lymphocyte antigen 96 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 5:7,365,536...7,397,864
|
|
G |
Maob |
monoamine oxidase B |
|
IEP |
protein:altered activity:hypothalamus (rat) |
RGD |
PMID:18802767 |
RGD:2307352 |
NCBI chr X:8,490,405...8,594,065
|
|
G |
Mapk13 |
mitogen activated protein kinase 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr20:6,836,979...6,847,197
|
|
G |
Mapk14 |
mitogen activated protein kinase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr20:6,751,288...6,812,294
|
|
G |
Mboat1 |
membrane bound O-acyltransferase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr17:34,331,413...34,445,088
|
|
G |
Mir130b |
microRNA 130b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr11:83,880,163...83,880,244
|
|
G |
Mir143 |
microRNA 143 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30125006 |
|
NCBI chr18:55,101,006...55,101,110
|
|
G |
Mir185 |
microRNA 185 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr11:82,664,716...82,664,795
|
|
G |
Mir190a |
microRNA 190a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 8:67,850,987...67,851,071
|
|
G |
Mir27b |
microRNA 27b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr17:1,813,427...1,813,523
|
|
G |
Mir337 |
microRNA 337 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 6:128,538,903...128,538,999
|
|
G |
Mir361 |
microRNA 361 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr X:78,246,206...78,246,275
|
|
G |
Mir377 |
microRNA 377 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 6:128,755,051...128,755,122
|
|
G |
Mir411 |
microRNA 411 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 6:128,723,189...128,723,264
|
|
G |
Mir875 |
microRNA 875 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 7:66,861,955...66,862,027
|
|
G |
Mir99a |
microRNA 99a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr11:16,200,443...16,200,523
|
|
G |
Mirlet7b |
microRNA let-7b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 7:116,804,186...116,804,270
|
|
G |
Mirlet7i |
microRNA let-7i |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363424 |
|
NCBI chr 7:58,642,485...58,642,569
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP |
|
RGD |
PMID:21274875 |
RGD:8552699 |
NCBI chr19:30,327,643...30,355,856
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20977460 |
|
NCBI chr 3:81,001,529...81,031,165
|
|
G |
Nfxl1 |
nuclear transcription factor, X-box binding-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr14:35,626,086...35,667,505
|
|
G |
Niban1 |
niban apoptosis regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr13:63,674,240...63,827,748
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12612912 PMID:20626112 |
|
NCBI chr10:64,313,335...64,349,221
|
|
G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:11352814 |
RGD:7775033 |
NCBI chr 4:11,686,088...11,706,604
|
|
G |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:15776426 PMID:22550138 PMID:25741868 PMID:28492532 PMID:28700940 |
|
NCBI chr 5:168,270,522...168,356,393
|
|
G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr13:68,205,602...68,247,940
|
|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22461449 PMID:28337145 |
RGD:13439750 |
NCBI chr19:52,205,374...52,220,267
|
|
G |
Nr1d1 |
nuclear receptor subfamily 1, group D, member 1 |
|
ISO |
|
RGD |
PMID:24497272 |
RGD:10448995 |
NCBI chr10:84,224,599...84,231,812
|
|
G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17256725 |
|
NCBI chr 1:95,041,967...95,047,358
|
|
G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17256725 |
|
NCBI chr 3:97,614,616...97,632,053
|
|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
treatment severity |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) mRNA:increased expression:ileum (rat) mRNA, protein:altered expression:liver (rat) mutant FXR-/- mouse |
CTD RGD |
PMID:22461449 PMID:23178280 PMID:27090119 PMID:30061734 PMID:30223280 PMID:30077711 PMID:29235094 PMID:12949728 More...
|
RGD:15090804, RGD:15092071, RGD:15045612, RGD:15045597, RGD:15042872, RGD:14701031 |
NCBI chr 7:25,733,471...25,829,440
|
|
G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr11:75,965,717...76,006,733
|
|
G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
disease_progression |
IEP |
|
RGD |
PMID:29204052 |
RGD:13782189 |
NCBI chr13:86,165,327...86,170,362
|
|
G |
Otc |
ornithine transcarbamylase |
|
IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:15916970 |
RGD:4143230 |
NCBI chr X:15,126,358...15,202,473
|
|
G |
Pan2 |
poly(A) specific ribonuclease subunit PAN2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 7:729,146...747,744
|
|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
IEP |
mRNA,protein:increased expression:cholangiocyte, bible duct: |
RGD |
PMID:10424289 |
RGD:10449495 |
NCBI chr 7:113,419,882...113,438,343
|
|
G |
Pdyn |
prodynorphin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16919318 |
|
NCBI chr 3:137,354,161...137,366,503
|
|
G |
Pgcka1 |
PDCD10 and GCKIII kinases associated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr14:44,387,386...44,478,344
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:3421781 |
|
NCBI chr 6:32,659,137...32,665,175
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 4:34,261,312...34,292,327
|
|
G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
treatment |
IEP |
mRNA:altered expression:liver (rat) |
RGD |
PMID:27090119 |
RGD:15090804 |
NCBI chr 2:55,967,766...56,003,450
|
|
G |
Pygm |
glycogen phosphorylase, muscle associated |
|
IDA |
mRNA:decreased expression:liver |
RGD |
PMID:11804660 |
RGD:1599990 |
NCBI chr 1:203,690,550...203,705,369
|
|
G |
Rdx |
radixin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17681005 |
|
NCBI chr 8:61,275,792...61,348,260
|
|
G |
Reep5 |
receptor accessory protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr18:25,945,375...25,983,271
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr 1:212,354,336...212,364,815
|
|
G |
Rflnb |
refilin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr10:60,893,693...60,899,970
|
|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4117022 |
|
NCBI chr 6:128,631,101...128,653,125
|
|
G |
Serpina5 |
serpin family A member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 6:123,009,224...123,028,412
|
|
G |
Serpine1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr12:25,237,977...25,248,356
|
|
G |
Slc10a1 |
solute carrier family 10 member 1 |
treatment |
IEP |
mRNA:altered expression:liver (rat) |
RGD |
PMID:29655695 PMID:27090119 |
RGD:15090803, RGD:15090804 |
NCBI chr 6:100,613,045...100,626,670
|
|
G |
Slc10a7 |
solute carrier family 10, member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr19:29,183,143...29,407,470
|
|
G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr X:72,791,096...72,914,299
|
|
G |
Slc23a1 |
solute carrier family 23 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chr18:27,214,940...27,230,564
|
|
G |
Slc23a2 |
solute carrier family 23 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18706437 |
|
NCBI chr 3:119,302,651...119,395,289
|
|
G |
Slc30a10 |
solute carrier family 30, member 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr13:96,998,143...97,048,076
|
|
G |
Slc51a |
solute carrier family 51 member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
|
NCBI chr11:68,299,086...68,313,485
|
|
G |
Slc51b |
SLC51 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 PMID:22461449 |
|
NCBI chr 8:65,931,891...65,939,953
|
|
G |
Slco1a4 |
solute carrier organic anion transporter family, member 1a4 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:altered expression:liver (rat) |
CTD RGD |
PMID:22461449 PMID:27090119 |
RGD:15090804 |
NCBI chr 4:174,710,004...174,764,810
|
|
G |
Slco1b2 |
solute carrier organic anion transporter family member 1B2 |
|
IEP |
mRNA, protein:increased expression:hepatocyte |
RGD |
PMID:17916651 |
RGD:2303109 |
NCBI chr 4:176,282,577...176,355,557
|
|
G |
Snai1 |
snail family transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr 3:176,667,476...176,671,965
|
|
G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 8:51,238,713...51,401,458
|
|
G |
Sort1 |
sortilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28453831 |
|
NCBI chr 2:198,609,466...198,690,481
|
|
G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 3:126,685,017...126,697,957
|
|
G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 1:84,558,159...84,580,616
|
|
G |
Srp72 |
signal recognition particle 72 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr14:31,522,424...31,549,978
|
|
G |
Sult2b1 |
sulfotransferase family 2B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27052460 |
|
NCBI chr 1:96,200,155...96,261,295
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
IEP |
|
RGD |
PMID:8707259 |
RGD:2290364 |
NCBI chr X:3,766,509...3,772,578
|
|
G |
Tjp1 |
tight junction protein 1 |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:18197414 |
RGD:2325141 |
NCBI chr 1:128,260,330...128,505,018
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Tmed7 |
transmembrane p24 trafficking protein 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr18:39,318,564...39,325,640
|
|
G |
Tmem117 |
transmembrane protein 117 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 7:125,757,591...126,219,692
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20626112 |
|
NCBI chr20:3,626,685...3,629,303
|
|
G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26881866 |
|
NCBI chr 8:104,665,241...104,680,915
|
|
G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
treatment |
ISO |
|
RGD |
PMID:29867509 |
RGD:14694823 |
NCBI chr 9:96,249,143...96,256,264
|
|
G |
Usp53 |
ubiquitin specific peptidase 53 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 PMID:34608165 |
|
NCBI chr 2:211,059,512...211,120,942
|
|
G |
Utp4 |
UTP4 small subunit processome component |
|
ISO |
North American Indian childhood cirrhosis, OMIM:604901, R565W |
RGD |
PMID:12417987 |
RGD:1600653 |
NCBI chr19:34,790,962...34,820,558
|
|
G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224055 |
|
NCBI chr 2:206,723,050...206,742,783
|
|
G |
Vil1 |
villin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr 9:75,991,141...76,018,860
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:143,633,167...143,656,228
|
|
G |
Wipi1 |
WD repeat domain, phosphoinositide interacting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27989131 |
|
NCBI chr10:95,042,451...95,079,679
|
|
G |
Xdh |
xanthine dehydrogenase |
|
IEP |
protein:alternative form:liver |
RGD |
PMID:10898233 |
RGD:13209135 |
NCBI chr 6:21,530,463...21,592,172
|
|
|
G |
Unc45a |
unc-45 myosin chaperone A |
|
ISO |
ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:143,691,183...143,705,944
|
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO ISS |
DNA:insertion:exon:c.962_963insA (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia OMIM:118450 | OMIM:610205 ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC |
CTD ClinVar MouseDO RGD |
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21532573 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25326637 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36973604 PMID:37600608 PMID:11745040 PMID:21714972 PMID:16875832 More...
|
RGD:1580651, RGD:6482232, RGD:6482237 |
NCBI chr 3:124,406,783...124,442,220
|
|
G |
Notch2 |
notch receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:31749841 PMID:16773578 More...
|
RGD:1580762 |
NCBI chr 2:185,610,594...185,744,088
|
|
|
G |
Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
|
|
NCBI chr 3:123,847,832...123,883,060
|
|
G |
Hao1 |
hydroxyacid oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
|
|
NCBI chr 3:121,757,400...121,828,721
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
OMIM ClinVar |
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:11181574 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24684524 PMID:24748328 PMID:25260786 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28444304 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29453956 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34399559 PMID:34746741 PMID:36474027 PMID:36729644 PMID:36973604 PMID:37600608 More...
|
|
NCBI chr 3:124,406,783...124,442,220
|
|
G |
Lamp5 |
lysosomal-associated membrane protein family, member 5 |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
|
|
NCBI chr 3:123,372,462...123,384,973
|
|
G |
Mkks |
MKKS centrosomal shuttling protein |
|
ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:144,654,563...144,672,831
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G |
Pak5 |
p21 (RAC1) activated kinase 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:143,848,404...144,156,674
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:122,059,988...122,772,896
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G |
Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:122,952,965...123,322,522
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G |
Slx4ip |
SLX4 interacting protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:124,220,215...124,396,797
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:144,494,579...144,576,449
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G |
Tmx4 |
thioredoxin-related transmembrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:142,309,026...142,352,415
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G |
Notch2 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 2 |
OMIM ClinVar |
PMID:16773578 PMID:21378985 PMID:22209782 PMID:23389697 PMID:24728327 PMID:25016221 PMID:25741868 PMID:26627824 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:29698804 PMID:30143558 PMID:31749841 PMID:32164334 PMID:32368696 More...
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NCBI chr 2:185,610,594...185,744,088
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar MouseDO |
PMID:20190753 PMID:25741868 |
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NCBI chr 6:106,888,284...106,913,139
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:143,633,167...143,656,228
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
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NCBI chr 6:106,888,284...106,913,139
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
OMIM ClinVar |
PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17576681 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25239142 PMID:25741868 PMID:26505894 PMID:28492532 PMID:29907094 PMID:31343487 PMID:31479177 PMID:35126127 More...
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NCBI chr 1:143,633,167...143,656,228
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 | ClinVar Annotator: match by term: VIPAS39-related condition |
OMIM ClinVar |
PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177 |
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NCBI chr 6:106,888,284...106,913,139
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: Summerskill syndrome DNA:missense mutation:cds:p.I661T (human) |
OMIM ClinVar RGD |
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:15975683 PMID:16199547 PMID:17592371 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20414253 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25421123 PMID:25737299 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:26879107 PMID:27050426 PMID:27530795 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:32650689 PMID:32695736 PMID:32942997 PMID:33437900 PMID:33666275 PMID:34016879 PMID:35416773 PMID:35431768 PMID:35894240 PMID:9918928 More...
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RGD:14401576 |
NCBI chr18:60,286,605...60,427,862
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 |
OMIM ClinVar |
PMID:9536098 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16868810 PMID:16871584 PMID:17241866 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:19101985 PMID:19750581 PMID:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23437912 PMID:23750872 PMID:24115678 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24711118 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28425419 PMID:28454995 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29316097 PMID:29404523 PMID:29412511 PMID:29625052 PMID:29992621 PMID:30210030 PMID:30366773 PMID:31015375 PMID:31091858 PMID:31296176 PMID:31450232 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32581362 PMID:32793533 PMID:32808743 PMID:32860008 PMID:32917322 PMID:32942997 PMID:33201677 PMID:33215027 PMID:33915153 PMID:34008892 PMID:34016879 PMID:34942279 PMID:35257483 PMID:35780807 PMID:35894240 PMID:37471416 More...
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NCBI chr 3:74,424,620...74,520,646
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21356120 |
RGD:5686894 |
NCBI chr11:91,226,524...91,240,244
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G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
mRNA, protein:increased expression:liver, plasma: |
RGD |
PMID:21172039 |
RGD:7184431 |
NCBI chr18:28,609,558...28,611,409
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
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ISO |
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RGD |
PMID:14743499 |
RGD:1625622 |
NCBI chr 6:128,410,216...128,417,518
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
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RGD |
PMID:29056230 |
RGD:14701039 |
NCBI chr20:13,074,695...13,104,095
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G |
Gli2 |
GLI family zinc finger 2 |
disease_progression |
ISO |
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RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chr13:29,946,882...30,163,589
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16627878 |
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NCBI chr 1:95,298,332...95,300,271
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G |
Icam1 |
intercellular adhesion molecule 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.G241R (human) |
RGD |
PMID:18401716 |
RGD:14402043 |
NCBI chr 8:27,829,688...27,841,618
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G |
Il18 |
interleukin 18 |
susceptibility |
ISO |
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) protein:increased expression:serum: |
RGD |
PMID:30059753 PMID:10726686 |
RGD:14695528, RGD:14695529 |
NCBI chr 8:59,802,072...59,829,275
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G |
Mir145 |
microRNA 145 |
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IEP |
miRNA:decreased expression:liver (human) |
RGD |
PMID:28902846 |
RGD:15039396 |
NCBI chr18:57,369,983...57,370,070
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G |
Mir155 |
microRNA 155 |
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ISO |
miRNA:increased expression:liver |
RGD |
PMID:28355202 PMID:27817193 |
RGD:24922206, RGD:25671379 |
NCBI chr11:37,261,114...37,261,178
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:25487473 |
RGD:12832754 |
NCBI chr 1:240,043,707...240,110,330
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G |
Shh |
sonic hedgehog signaling molecule |
disease_progression |
ISO |
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RGD |
PMID:25746691 |
RGD:12802349 |
NCBI chr 4:6,954,017...6,963,170
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G |
Sox17 |
SRY-box transcription factor 17 |
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ISS |
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MouseDO |
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NCBI chr 5:15,016,660...15,022,228
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G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
disease_progression |
ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 3:126,685,017...126,697,957
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G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
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ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 1:84,558,159...84,580,616
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:15845635 |
RGD:1581370 |
NCBI chr14:5,613,569...5,620,695
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
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RGD |
PMID:30686515 |
RGD:14985228 |
NCBI chr 1:90,324,312...90,340,627
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome with ocular defect |
ClinVar |
PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chr 1:17,580,859...17,711,775
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis |
ClinVar |
PMID:16783569 PMID:18546297 PMID:23033313 PMID:25741868 PMID:27081566 PMID:28492532 PMID:29193896 PMID:31373179 More...
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NCBI chr X:31,647,000...31,687,768
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
DNA:missense mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19058225 PMID:19574260 |
RGD:11535944, RGD:11535946 |
NCBI chr 5:30,333,793...30,386,702
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:28492532 PMID:28518168 PMID:29146704 PMID:29620724 PMID:30609409 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:33084218 PMID:34426522 PMID:34448047 PMID:34758253 PMID:36788019 More...
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NCBI chr14:71,563,835...71,648,352
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572 PMID:32483926 More...
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NCBI chr19:31,865,050...31,957,930
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
OMIM ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:12368986 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27491411 PMID:28125082 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:32939031 PMID:34675960 PMID:36617405 More...
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NCBI chr 5:30,333,793...30,386,702
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 2 |
OMIM ClinVar |
PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28125082 PMID:28492532 PMID:31964843 PMID:32488064 PMID:34194672 More...
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NCBI chr14:71,563,835...71,648,352
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 3 |
OMIM ClinVar |
PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:32483926 More...
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NCBI chr19:31,865,050...31,957,930
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G |
Akr1d1 |
aldo-keto reductase family 1, member D1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
PMID:15030995 PMID:20522910 PMID:23160874 PMID:25741868 |
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NCBI chr 4:67,121,288...67,154,543
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:102,419,011...102,586,047
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
PMID:12679481 PMID:25741868 |
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NCBI chr 1:191,842,688...191,845,919
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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 PMID:32183854 PMID:34627351 More...
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NCBI chr 1:191,842,688...191,845,919
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G |
Akr1d1 |
aldo-keto reductase family 1, member D1 |
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ISO |
ClinVar Annotator: match by term: AKR1D1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23160874 PMID:23679950 PMID:25304492 PMID:25741868 PMID:28492532 PMID:30809085 PMID:31450232 PMID:33258288 PMID:35626323 PMID:37314652 PMID:38062451 More...
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NCBI chr 4:67,121,288...67,154,543
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: CYP7B1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:17503452 PMID:17576681 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21541746 PMID:21567895 PMID:21623769 PMID:22384504 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24482476 PMID:24519355 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326637 PMID:25741868 PMID:26374131 PMID:26467025 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29980238 PMID:31589614 PMID:31692161 PMID:33160247 PMID:34234304 PMID:34426522 PMID:34983064 More...
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NCBI chr 2:102,419,011...102,586,047
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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
ClinVar Annotator: match by term: AMACR-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9584266 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 More...
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NCBI chr 2:61,673,291...61,685,381
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:59,963,599...59,996,408
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G |
Abcd3 |
ATP binding cassette subfamily D member 3 |
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ISO ISS |
ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 OMIM:616278 |
OMIM ClinVar MouseDO |
PMID:25168382 PMID:25741868 PMID:28492532 |
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NCBI chr 2:212,536,791...212,590,379
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G |
Acox2 |
acyl-CoA oxidase 2 |
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ISO |
ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 PMID:35395098 PMID:35775617 More...
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NCBI chr15:19,090,820...19,122,392
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
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IEP |
mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) |
RGD |
PMID:28660384 |
RGD:21203516 |
NCBI chr 5:72,473,676...72,596,563
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 |
treatment |
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chr15:101,948,387...102,182,912
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:31932644 |
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NCBI chr 1:241,159,723...241,172,503
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr14:17,891,564...17,907,043
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 1:22,621,498...22,624,614
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G |
Cd68 |
Cd68 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:54,880,562...54,882,441
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:31932644 |
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NCBI chr10:80,380,458...80,397,461
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 9:54,866,646...54,902,578
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G |
Crh |
corticotropin releasing hormone |
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IEP |
protein:decreased expression:hypothalamus (rat) |
RGD |
PMID:8387536 |
RGD:5490980 |
NCBI chr 2:104,059,184...104,061,048
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G |
Cygb |
cytoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr10:101,877,675...101,887,442
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
treatment |
IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chr 9:83,712,402...83,743,222
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G |
Cyp7a1 |
cytochrome P450 family 7 subfamily A member 1 |
treatment |
IEP |
mRNA:decreased expression:liver (rat) mRNA:decreased expression:liver, nucleus (rat) |
RGD |
PMID:29360226 PMID:28660384 |
RGD:14995480, RGD:21203516 |
NCBI chr 5:24,174,505...24,184,202
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G |
Cyp8b1 |
cytochrome P450 family 8 subfamily B member 1 |
treatment |
IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:29360226 |
RGD:14995480 |
NCBI chr 8:130,455,622...130,457,592
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 6:110,852,188...110,855,054
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G |
Gjb1 |
gap junction protein, beta 1 |
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IEP |
mRNA,protein:decreased expression:liver: |
RGD |
PMID:7762611 |
RGD:7349397 |
NCBI chr X:66,501,848...66,509,783
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G |
Gjb2 |
gap junction protein, beta 2 |
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IEP |
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RGD |
PMID:7762611 |
RGD:7349397 |
NCBI chr15:31,260,390...31,278,222
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G |
Hamp |
hepcidin antimicrobial peptide |
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IEP |
mRNA:decreased expression:liver |
RGD |
PMID:19652645 |
RGD:11041639 |
NCBI chr 1:95,298,332...95,300,271
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G |
Hmgb1 |
high mobility group box 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr12:11,009,236...11,015,941
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G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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IEP |
mRNA, protein:decreased expression:liver, mitochondrion (rat) |
RGD |
PMID:12399220 |
RGD:2326121 |
NCBI chr 2:185,875,609...185,903,505
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G |
Hnf1a |
HNF1 homeobox A |
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IEP |
mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) |
RGD |
PMID:15723437 |
RGD:14700989 |
NCBI chr12:47,299,171...47,333,457
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 3:137,030,200...137,036,581
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 4:5,889,999...5,894,575
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 5:115,009,900...115,012,993
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 8:19,768,375...19,777,862
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G |
Lgals1 |
galectin 1 |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:18225978 |
RGD:2316551 |
NCBI chr 7:112,365,695...112,368,801
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 5:51,149,524...51,212,012
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G |
Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr11:97,462,025...97,529,193
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr20:6,751,288...6,812,294
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G |
Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 1:190,797,189...190,803,411
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr16:8,645,171...8,728,225
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G |
Mapk9 |
mitogen-activated protein kinase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:34,670,750...34,711,972
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr19:30,327,643...30,355,856
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 3:174,103,474...174,111,434
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G |
Mpo |
myeloperoxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:73,092,124...73,102,057
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 8:127,952,161...127,956,230
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30026087 PMID:31900718 |
RGD:21201303 |
NCBI chr 3:81,001,529...81,031,165
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr10:64,313,335...64,349,221
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
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NCBI chr 4:11,686,088...11,706,604
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
treatment disease_progression |
IDA IEP ISO |
mRNA:increased expression:liver (rat) protein:increased expression:liver (rat) human gene in mouse model |
RGD |
PMID:14623915 PMID:29360226 PMID:29138817 PMID:22057115 |
RGD:1625205, RGD:14995480, RGD:15042871, RGD:14928333 |
NCBI chr 7:25,733,471...25,829,440
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G |
Oprm1 |
opioid receptor, mu 1 |
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IEP |
mRNA:decreased expression:hypothalamus, hippocampus |
RGD |
PMID:25290008 |
RGD:401842371 |
NCBI chr 1:45,565,371...45,818,722
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
IMP |
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RGD |
PMID:18466260 |
RGD:10449503 |
NCBI chr18:56,770,348...56,809,228
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G |
Ptn |
pleiotrophin |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:18225978 |
RGD:2316551 |
NCBI chr 4:66,260,764...66,342,614
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:30026087 |
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NCBI chr 1:212,354,336...212,364,815
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G |
Setd7 |
SET domain containing 7, histone lysine methyltransferase |
treatment |
IMP |
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RGD |
PMID:24097032 |
RGD:9491846 |
NCBI chr 2:137,713,545...137,756,319
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G |
Slc22a1 |
solute carrier family 22 member 1 |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:20814153 |
RGD:7243879 |
NCBI chr 1:50,624,339...50,651,437
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G |
Slc22a2 |
solute carrier family 22 member 2 |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:20814153 |
RGD:7243879 |
NCBI chr 1:50,668,817...50,711,019
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 PMID:30026087 PMID:31932644 |
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NCBI chr 1:90,324,312...90,340,627
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr X:3,766,509...3,772,578
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr10:104,041,604...104,089,214
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr 5:85,161,247...85,174,882
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28789951 |
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NCBI chr20:3,626,685...3,629,303
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G |
Tjp2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial primary biliary cirrhosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32439973 |
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NCBI chr 1:221,709,745...221,838,291
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO ISS |
ClinVar Annotator: match by term: GRACILE syndrome OMIM:603358 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:22991165 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 More...
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NCBI chr 9:83,614,045...83,618,052
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome |
OMIM ClinVar |
PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30006928 PMID:32174975 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 More...
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NCBI chr X:66,404,807...66,427,775
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G |
Ank1 |
ankyrin 1 |
severity |
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant DNA:deletion mutation:exon: DNA:deletion:cds: DNA:mutation: : DNA:transversion mutation:splice site:1674G>C(mouse) DNA:transition mutation:intron: DNA:mutation:exon:p.E924X(mouse) |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:8640229 PMID:14671619 PMID:9054656 PMID:23390527 PMID:19179303 PMID:23934996 PMID:21193012 More...
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RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 |
NCBI chr16:68,876,294...69,054,963
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr 6:25,292,133...25,315,078
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G |
Dhodh |
dihydroorotate dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr19:37,551,858...37,573,327
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G |
Epb42 |
erythrocyte membrane protein band 4.2 |
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ISO |
ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar RGD |
PMID:28492532 PMID:1558976 |
RGD:1598910 |
NCBI chr 3:107,979,709...107,997,932
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G |
Gpi |
glucose-6-phosphate isomerase |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:86,828,211...86,856,077
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G |
Klf1 |
KLF transcription factor 1 |
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ISO ISS |
DNA:missense mutation:exon:p.E339D (1065A>T) (human) |
MouseDO RGD |
PMID:20691777 |
RGD:10769342 |
NCBI chr19:23,250,627...23,253,802
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G |
Or10z1 |
olfactory receptor family 10 subfamily Z member 1 |
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ISO |
ClinVar Annotator: match by term: Spherocytosis, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr13:86,281,535...86,282,476
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
DNA:duplication:cds: (human) ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism mRNA:splicing error:intron:IVS8+1G>T (human) DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human) DNA:missense mutation:cds:p.G771D (human) |
ClinVar CTD RGD |
PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 More...
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RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 |
NCBI chr10:87,807,010...87,823,274
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
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ISO |
DNA:polymorphisms:introns,exon: ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive DNA:deletion:cds: |
ClinVar RGD |
PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 PMID:18815189 PMID:23974198 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31130284 PMID:31147440 PMID:31333484 PMID:31539204 PMID:31723846 PMID:32641076 PMID:32751168 PMID:37400730 PMID:15384986 PMID:11920196 More...
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RGD:11059521, RGD:11059522 |
NCBI chr13:86,203,504...86,279,371
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G |
Sptb |
spectrin, beta, erythrocytic |
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ISO |
mRNA:decreased expression:erythrocyte: ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 PMID:19538529 More...
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RGD:11059526 |
NCBI chr 6:101,043,512...101,170,389
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G |
Umps |
uridine monophosphate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr11:66,806,107...66,816,520
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G |
Add2 |
adducin 2 |
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ISS |
OMIM:182900 |
MouseDO |
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NCBI chr 4:118,444,594...118,538,505
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G |
Ank1 |
ankyrin 1 |
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ISO ISS |
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive OMIM:182900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 PMID:9887280 PMID:11102985 PMID:11167760 PMID:11372755 PMID:11527968 PMID:12899723 PMID:15071790 PMID:16037067 PMID:16199547 PMID:17327413 PMID:17576681 PMID:21099109 PMID:22573887 PMID:23322884 PMID:24033266 PMID:25741868 PMID:26830532 PMID:27292444 PMID:27399967 PMID:27427187 PMID:28102861 PMID:28492532 PMID:29396846 PMID:29449435 PMID:29572776 PMID:29597199 PMID:30207817 PMID:31016877 PMID:31122244 PMID:31602632 PMID:31669644 PMID:31723846 PMID:31980736 PMID:32036089 PMID:32436265 PMID:32641076 PMID:32702754 PMID:33014018 PMID:33074480 PMID:33116287 PMID:33620149 PMID:33868383 PMID:34131631 PMID:34307574 PMID:34335240 PMID:34953813 PMID:35022413 PMID:36071563 PMID:36203343 PMID:36468602 PMID:36544651 PMID:36598564 PMID:36816036 PMID:38592584 More...
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NCBI chr16:68,876,294...69,054,963
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G |
Epb42 |
erythrocyte membrane protein band 4.2 |
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ISS |
OMIM:182900 |
MouseDO |
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NCBI chr 3:107,979,709...107,997,932
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
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ISS |
OMIM:182900 |
MouseDO |
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NCBI chr13:86,203,504...86,279,371
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G |
Myh2 |
myosin heavy chain 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,856,738...51,883,236
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G |
Plekhg3 |
pleckstrin homology and RhoGEF domain containing G3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition |
ClinVar |
PMID:25741868 |
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NCBI chr 6:95,265,756...95,308,952
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G |
Sptb |
spectrin, beta, erythrocytic |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition |
OMIM ClinVar |
PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 PMID:8667615 PMID:8844207 PMID:9536098 PMID:9714702 PMID:11703334 PMID:17576681 PMID:19538529 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28102861 PMID:28492532 PMID:29572776 PMID:29758562 PMID:30198572 PMID:30486584 PMID:31122244 PMID:31126250 PMID:31602632 PMID:31723846 PMID:31807509 PMID:31980736 PMID:32436265 PMID:32596782 PMID:32641076 PMID:33014018 PMID:33074480 PMID:33868383 PMID:34140613 PMID:34182956 PMID:34335240 PMID:35406697 PMID:36071563 PMID:36135330 PMID:36203343 PMID:38069343 PMID:38556258 PMID:38592584 More...
|
|
NCBI chr 6:101,043,512...101,170,389
|
|
|
G |
Or10z1 |
olfactory receptor family 10 subfamily Z member 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr13:86,281,535...86,282,476
|
|
G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis type 3 OMIM:270970 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:9192783 PMID:15071791 PMID:15384986 PMID:18218854 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:24895341 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28492532 PMID:29105823 PMID:29396846 PMID:30267408 PMID:31038472 PMID:31040790 PMID:31147440 PMID:31333484 PMID:31364155 PMID:31602632 PMID:31723846 PMID:31854503 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32888494 PMID:33074880 PMID:35351432 PMID:35845192 PMID:35950897 More...
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|
NCBI chr13:86,203,504...86,279,371
|
|
|
G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 OMIM:612653 |
CTD ClinVar MouseDO |
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8640229 PMID:8704215 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9233560 PMID:9312167 PMID:9565662 PMID:9600966 PMID:9734643 PMID:9854053 PMID:9973643 PMID:10403343 PMID:10580570 PMID:10745622 PMID:10766130 PMID:10926824 PMID:10942416 PMID:11155072 PMID:11208088 PMID:11380459 PMID:12081559 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:16107207 PMID:16199547 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17557941 PMID:17690931 PMID:18266205 PMID:19229254 PMID:19289107 PMID:19565014 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:21039340 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24033266 PMID:24652967 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:27058983 PMID:27292444 PMID:27718309 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29572776 PMID:29627839 PMID:29725771 PMID:29790872 PMID:30124986 PMID:30230413 PMID:31122244 PMID:31126250 PMID:31147440 PMID:31364155 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32154456 PMID:32266426 PMID:32436265 PMID:32641076 PMID:32926342 PMID:33074480 PMID:33532864 PMID:34093240 PMID:34201899 PMID:34746046 PMID:35738466 PMID:35845192 PMID:36203343 PMID:36231035 PMID:37353797 More...
|
|
NCBI chr10:87,807,010...87,823,274
|
|
|
G |
Epb42 |
erythrocyte membrane protein band 4.2 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spherocytosis type 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:8635206 PMID:10406914 PMID:12176912 PMID:15692067 PMID:19508687 PMID:25741868 PMID:28492532 PMID:29402830 PMID:32726712 PMID:36203343 More...
|
|
NCBI chr 3:107,979,709...107,997,932
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16290310 PMID:16641580 PMID:16871584 PMID:17855769 PMID:18049162 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24627769 PMID:25741868 PMID:25847299 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27239116 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32581362 PMID:32808743 PMID:32860008 PMID:33215027 PMID:33915153 PMID:34016879 PMID:35257483 PMID:9806540 PMID:22619174 More...
|
RGD:1598583, RGD:14688049 |
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
treatment |
ISO ISS |
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human) OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878 |
ClinVar MouseDO RGD |
PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 PMID:17726488 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:22527017 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24806754 PMID:25741868 PMID:25755323 PMID:25755532 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:28039895 PMID:28492532 PMID:28587926 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30036524 PMID:30449124 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:35626323 PMID:35894240 PMID:35905201 PMID:8106172 PMID:30935993 PMID:18781607 More...
|
RGD:1300325, RGD:14695045, RGD:14695044 |
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Ap1s1 |
adaptor related protein complex 1 subunit sigma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23423674 |
|
NCBI chr12:19,625,267...19,635,792
|
|
G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Progressive intrahepatic cholestasis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:5807632 PMID:9500542 PMID:9918928 PMID:11815775 PMID:14988830 PMID:15239083 PMID:18379143 PMID:19260995 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20414253 PMID:22525741 PMID:25741868 PMID:26382629 PMID:26678486 PMID:26858187 PMID:26879107 PMID:28492532 PMID:28733223 PMID:30366773 PMID:31450232 PMID:33437900 PMID:33666275 PMID:34016879 PMID:9500542 More...
|
RGD:1599397 |
NCBI chr18:60,286,605...60,427,862
|
|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:18364083 |
RGD:5135233 |
NCBI chr14:17,465,210...17,467,255
|
|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
|
RGD |
PMID:29404441 |
RGD:14700873 |
NCBI chr 1:205,269,967...205,280,365
|
|
G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18364083 PMID:22094456 |
|
NCBI chr18:26,737,078...26,740,877
|
|
G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
|
IEP |
protein:decreased activity,altered location:liver: |
RGD |
PMID:11383876 |
RGD:9685454 |
NCBI chr 1:239,425,515...239,552,323
|
|
G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
ISO |
CBAS1, OMIM:607765 |
RGD |
PMID:12679481 |
RGD:1599971 |
NCBI chr 1:191,842,688...191,845,919
|
|
G |
Maf |
MAF bZIP transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20146260 |
|
NCBI chr19:43,353,867...43,713,162
|
|
G |
Mafg |
MAF bZIP transcription factor G |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20146260 |
|
NCBI chr10:106,401,633...106,410,159
|
|
G |
Mir27a |
microRNA 27a |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:25226451 |
RGD:14695552 |
NCBI chr19:23,954,831...23,954,917
|
|
G |
Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:18578998 |
RGD:2311605 |
NCBI chr 5:145,779,294...145,782,609
|
|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
|
IDA |
|
RGD |
PMID:15644430 |
RGD:1625202 |
NCBI chr 7:25,733,471...25,829,440
|
|
G |
Slc22a1 |
solute carrier family 22 member 1 |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:19002567 |
RGD:7243885 |
NCBI chr 1:50,624,339...50,651,437
|
|
G |
Slc22a2 |
solute carrier family 22 member 2 |
|
IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:19002567 |
RGD:7243885 |
NCBI chr 1:50,668,817...50,711,019
|
|
G |
Tjp2 |
tight junction protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614073 |
|
NCBI chr 1:221,709,745...221,838,291
|
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr18:60,286,605...60,427,862
|
|
G |
Hdac3 |
histone deacetylase 3 |
severity |
ISO |
|
RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr18:29,770,637...29,789,850
|
|
G |
Il18 |
interleukin 18 |
severity |
ISO |
|
RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr 8:59,802,072...59,829,275
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23627780 |
|
NCBI chr20:3,626,685...3,629,303
|
|
G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28851649 |
|
NCBI chr 2:206,723,050...206,742,783
|
|
|
G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
|
ISO |
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 |
OMIM ClinVar |
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
|
|
NCBI chr18:60,286,605...60,427,862
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
|
|
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
OMIM ClinVar |
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12624161 PMID:12746424 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755323 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:31759867 PMID:32321542 PMID:32376413 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33554096 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 PMID:38374565 More...
|
|
NCBI chr 4:26,106,895...26,164,440
|
|
|
G |
Vps50 |
VPS50 subunit of EARP/GARPII complex |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |
OMIM ClinVar |
PMID:25741868 PMID:34037727 |
|
NCBI chr 4:31,484,424...31,585,617
|
|
|
G |
Utp4 |
UTP4 small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis |
ClinVar |
PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 PMID:20385600 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 PMID:28492532 More...
|
|
NCBI chr19:34,790,962...34,820,558
|
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22022477 |
|
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Adm |
adrenomedullin |
|
IEP |
protein:increased expression:plasma: |
RGD |
PMID:20132852 |
RGD:7364952 |
NCBI chr 1:174,164,178...174,182,372
|
|
G |
Alb |
albumin |
|
IEP |
|
RGD |
PMID:9161836 |
RGD:11036102 |
NCBI chr14:17,891,564...17,907,043
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IDA |
|
RGD |
PMID:15573249 |
RGD:8549649 |
NCBI chr10:67,503,077...67,504,875
|
|
G |
Cd14 |
CD14 molecule |
|
IEP |
mRNA:increased expression:ileum, liver, lung, spleen |
RGD |
PMID:25093541 |
RGD:9685190 |
NCBI chr18:28,609,558...28,611,409
|
|
G |
Cfh |
complement factor H |
|
IEP |
protein:decreased expression:plasma: |
RGD |
PMID:20132852 |
RGD:7364952 |
NCBI chr13:51,512,376...51,613,829
|
|
G |
Gpt |
glutamic--pyruvic transaminase |
|
IEP |
|
RGD |
PMID:9161836 |
RGD:11036102 |
NCBI chr 7:110,295,599...110,300,134
|
|
G |
Hmbs |
hydroxymethylbilane synthase |
|
EXP |
Protein:increased activity:liver (rat) |
RGD |
PMID:3963818 |
RGD:4144803 |
NCBI chr 8:53,570,364...53,577,758
|
|
G |
Hmgb1 |
high mobility group box 1 |
|
IEP |
protein:increased expression:liver, plasma |
RGD |
PMID:21737101 |
RGD:10402168 |
NCBI chr12:11,009,236...11,015,941
|
|
G |
Irf5 |
interferon regulatory factor 5 |
|
IEP |
mRNA,protein:increased expression:liver,nucleus: |
RGD |
PMID:21737101 |
RGD:10402168 |
NCBI chr 4:59,092,914...59,104,596
|
|
G |
Lbp |
lipopolysaccharide binding protein |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:25093541 |
RGD:9685190 |
NCBI chr 3:146,953,889...146,981,032
|
|
G |
Pcna |
proliferating cell nuclear antigen |
treatment |
IEP |
|
RGD |
PMID:12917765 |
RGD:10448973 |
NCBI chr 3:139,951,948...139,955,820
|
|
G |
Tlr2 |
toll-like receptor 2 |
treatment |
ISO |
|
RGD |
PMID:29366780 |
RGD:15090858 |
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Ucp2 |
uncoupling protein 2 |
|
IEP |
|
RGD |
PMID:19632092 |
RGD:7204429 |
NCBI chr 1:164,251,373...164,257,742
|
|
|
G |
Unc45a |
unc-45 myosin chaperone A |
|
ISO |
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 |
|
NCBI chr 1:143,691,183...143,705,944
|
|
|
G |
Abca1 |
ATP binding cassette subfamily A member 1 |
|
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:28660384 |
RGD:21203516 |
NCBI chr 5:72,473,676...72,596,563
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
treatment disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human) |
CTD RGD |
PMID:20040336 PMID:30682444 PMID:21209952 PMID:18671305 |
RGD:153297773, RGD:14694982 |
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver |
CTD RGD |
PMID:15542527 PMID:15770136 |
RGD:14700810 |
NCBI chr 1:252,613,875...252,672,459
|
|
G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15542527 |
|
NCBI chr 4:89,006,056...89,132,915
|
|
G |
Ace |
angiotensin I converting enzyme |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:19389807 |
RGD:2325226 |
NCBI chr10:91,410,129...91,430,246
|
|
G |
Ace2 |
angiotensin converting enzyme 2 |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chr X:30,293,597...30,340,961
|
|
G |
Agt |
angiotensinogen |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chr19:69,426,540...69,447,017
|
|
G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
|
NCBI chr14:17,891,564...17,907,043
|
|
G |
Aqp4 |
aquaporin 4 |
|
IEP |
|
RGD |
PMID:20451280 |
RGD:5148030 |
NCBI chr18:6,782,389...6,799,034
|
|
G |
Car1 |
carbonic anhydrase 1 |
|
ISO |
|
RGD |
PMID:12806141 |
RGD:408425977 |
NCBI chr 2:88,550,681...88,593,454
|
|
G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
|
RGD |
PMID:12806141 |
RGD:408425977 |
NCBI chr 2:88,462,883...88,478,012
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver: |
CTD RGD |
PMID:12126966 PMID:15770052 |
RGD:14995336 |
NCBI chr10:68,820,330...68,824,906
|
|
G |
Ccn2 |
cellular communication network factor 2 |
|
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:19371232 |
RGD:2314517 |
NCBI chr 1:22,621,498...22,624,614
|
|
G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chr18:28,609,558...28,611,409
|
|
G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr 8:54,184,573...54,190,112
|
|
G |
Cd68 |
Cd68 molecule |
disease_progression |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chr10:54,880,562...54,882,441
|
|
G |
Cd80 |
Cd80 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr11:75,760,073...75,798,978
|
|
G |
Cdh5 |
cadherin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr19:815,415...854,478
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:epithelial cell: |
RGD |
PMID:18456456 |
RGD:8662434 |
NCBI chr20:7,150,820...7,161,373
|
|
G |
Cenpb |
centromere protein B |
|
ISO |
|
RGD |
PMID:8911074 |
RGD:27226708 |
NCBI chr 3:118,396,987...118,399,780
|
|
G |
Clec16a |
C-type lectin domain containing 16A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr10:5,434,725...5,631,246
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP |
|
RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr10:80,380,458...80,397,461
|
|
G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:26627607 |
RGD:11528851 |
NCBI chr 1:144,709,278...144,817,388
|
|
G |
Cpeb4 |
cytoplasmic polyadenylation element binding protein 4 |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:26627607 |
RGD:11528851 |
NCBI chr10:16,222,271...16,284,248
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility disease_progression no_association |
ISO |
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) DNA:SNP:CDS:60G>A(rs3087243)(human) DNA:SNPs: :rs231775, rs3087243, rs231725 (human) DNA:SNP:CDS:49A>G(human) |
RGD |
PMID:10782900 PMID:16584111 PMID:21594562 PMID:17482523 |
RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 |
NCBI chr 9:69,812,859...69,819,959
|
|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr14:15,989,066...15,991,263
|
|
G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr14:16,007,166...16,012,077
|
|
G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr 8:53,738,878...53,756,813
|
|
G |
Cygb |
cytoglobin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
|
NCBI chr10:101,877,675...101,887,442
|
|
G |
Dag1 |
dystroglycan 1 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:12177244 |
RGD:2314895 |
NCBI chr 8:117,769,517...117,834,347
|
|
G |
Dennd1b |
DENN domain containing 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr13:50,545,324...50,772,922
|
|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:28263100 |
RGD:38500241 |
NCBI chr10:11,498,930...11,505,151
|
|
G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15651265 PMID:15651265 |
RGD:9685530 |
NCBI chr 3:28,611,722...28,617,237
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:lymphocyte: |
RGD |
PMID:26429926 |
RGD:14700711 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Gch1 |
GTP cyclohydrolase 1 |
treatment |
IEP |
|
RGD |
PMID:20132096 |
RGD:329970291 |
NCBI chr15:20,404,267...20,437,727
|
|
G |
Hamp |
hepcidin antimicrobial peptide |
treatment |
ISO IEP |
mRNA:decreased expression:liver |
RGD |
PMID:19652645 PMID:23704825 |
RGD:11041639, RGD:11041732 |
NCBI chr 1:95,298,332...95,300,271
|
|
G |
Hhip |
Hedgehog-interacting protein |
|
IEP |
mRNA:decreased expression: |
RGD |
PMID:18375471 |
RGD:11552599 |
NCBI chr19:27,863,684...27,952,528
|
|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22271822 |
|
NCBI chr 6:98,357,788...98,405,068
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
IEP |
mRNA, protein:increased expression:liver, lung |
RGD |
PMID:12114196 |
RGD:625603 |
NCBI chr19:13,452,365...13,479,823
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
ISO |
associated with Graft vs Host Disease; protein:increased expression:serum: |
RGD |
PMID:10051478 PMID:11280567 |
RGD:11520783, RGD:597000690 |
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Ifng |
interferon gamma |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chr 7:55,789,180...55,793,216
|
|
G |
Igfbp1 |
insulin-like growth factor binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr14:86,261,277...86,266,344
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:17158635 |
RGD:38501106 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Il12a |
interleukin 12A |
susceptibility treatment |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype: :rs6441286, rs574808(human) DNA:SNP: :rs62270414(human) DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) |
CTD RGD |
PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695 |
RGD:25440500, RGD:25440498, RGD:25440489 |
NCBI chr 2:155,275,734...155,282,997
|
|
G |
Il12b |
interleukin 12B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20639880 |
|
NCBI chr10:29,390,300...29,405,194
|
|
G |
Il12rb1 |
interleukin 12 receptor subunit beta 1 |
susceptibility |
IEP |
RNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:23910013 |
RGD:14700865 |
NCBI chr16:18,620,228...18,633,207
|
|
G |
Il1b |
interleukin 1 beta |
disease_progression |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Il4 |
interleukin 4 |
treatment |
IEP |
|
RGD |
PMID:20442198 |
RGD:7829828 |
NCBI chr10:38,272,003...38,277,549
|
|
G |
Il6 |
interleukin 6 |
disease_progression |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:21275501 |
RGD:407420272 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Il7r |
interleukin 7 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr 2:58,452,393...58,477,757
|
|
G |
Jak2 |
Janus kinase 2 |
treatment |
IMP |
|
RGD |
PMID:24619965 |
RGD:10403061 |
NCBI chr 1:236,408,905...236,468,769
|
|
G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
|
NCBI chr 8:19,768,375...19,777,862
|
|
G |
Krt18 |
keratin 18 |
severity |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:26110613 |
RGD:18337483 |
NCBI chr 7:135,036,168...135,039,844
|
|
G |
Krt7 |
keratin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21681009 |
|
NCBI chr 7:134,407,626...134,423,787
|
|
G |
Lbr |
lamin B receptor |
|
ISO |
|
RGD |
PMID:8550049 |
RGD:9588625 |
NCBI chr13:93,539,386...93,564,026
|
|
G |
Lep |
leptin |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:16093869 |
RGD:10411894 |
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Lepr |
leptin receptor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:16093869 |
RGD:10411894 |
NCBI chr 5:121,409,735...121,593,201
|
|
G |
Lox |
lysyl oxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023247 |
|
NCBI chr18:45,964,544...45,977,431
|
|
G |
Loxl2 |
lysyl oxidase-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023247 |
|
NCBI chr15:44,683,449...44,773,067
|
|
G |
Map3k14 |
mitogen-activated protein kinase kinase kinase 14 |
|
ISS |
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 |
MouseDO |
|
|
NCBI chr10:88,665,417...88,715,669
|
|
G |
Mapk14 |
mitogen activated protein kinase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
|
NCBI chr20:6,751,288...6,812,294
|
|
G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
IEP |
|
RGD |
PMID:17532087 |
RGD:9685452 |
NCBI chr 1:50,428,064...50,459,537
|
|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
|
RGD |
PMID:19208365 |
RGD:14694826 |
NCBI chr 4:46,756,823...46,864,041
|
|
G |
Mir21 |
microRNA 21 |
severity |
ISO |
|
RGD |
PMID:28886078 |
RGD:21408577 |
NCBI chr10:71,902,600...71,902,691
|
|
G |
Mir223 |
microRNA 223 |
severity |
ISO |
|
RGD |
PMID:28886078 |
RGD:21408577 |
NCBI chr X:61,141,887...61,141,996
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20639879 |
|
NCBI chr 5:170,713,602...170,744,058
|
|
G |
Mmp13 |
matrix metallopeptidase 13 |
treatment |
IEP |
|
RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr 8:4,497,960...4,508,239
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP |
|
RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr19:30,327,643...30,355,856
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IEP |
|
RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr 8:12,925,267...12,938,828
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP |
|
RGD |
PMID:20056896 |
RGD:8552731 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Msn |
moesin |
|
IDA |
protein:increased phosphorylation:liver, blood vessel: |
RGD |
PMID:16492715 |
RGD:2298879 |
NCBI chr X:60,996,043...61,064,011
|
|
G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:18507686 |
RGD:2324885 |
NCBI chr 1:206,225,775...206,261,280
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
|
NCBI chr 3:81,001,529...81,031,165
|
|
G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr 2:226,689,745...226,805,897
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
IEP ISO |
protein:increased expression, increased activity:brain (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30026087 PMID:21903766 |
RGD:5509055 |
NCBI chr10:64,313,335...64,349,221
|
|
G |
Nos3 |
nitric oxide synthase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30026087 PMID:20132096 |
RGD:329970291 |
NCBI chr 4:11,686,088...11,706,604
|
|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
susceptibility |
ISO |
mRNA,protein:decreased expression:liver (human) |
RGD |
PMID:29968724 |
RGD:14928336 |
NCBI chr 7:25,733,471...25,829,440
|
|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
ISO |
mRNA:altered expression:leukocyte, mononuclear |
RGD |
PMID:15635817 |
RGD:4892607 |
NCBI chr18:31,522,783...31,644,508
|
|
G |
Nsa2 |
NSA2 ribosome biogenesis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr 2:28,443,142...28,449,393
|
|
G |
Nup62 |
nucleoporin 62 |
severity |
ISO |
|
RGD |
PMID:12753810 |
RGD:9831196 |
NCBI chr 1:95,298,995...95,314,902
|
|
G |
Pde5a |
phosphodiesterase 5A |
|
IMP |
|
RGD |
PMID:17610866 |
RGD:2314466 |
NCBI chr 2:210,858,515...211,003,480
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID: |
RGD:6484526 |
NCBI chr14:63,073,505...63,729,215
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) |
CTD RGD |
PMID:30026087 PMID:21275501 |
RGD:407420272 |
NCBI chr 1:212,354,336...212,364,815
|
|
G |
Ren |
renin |
|
IEP |
protein:increased activity:plasma (rat) |
RGD |
PMID:22266601 |
RGD:6892690 |
NCBI chr13:47,348,312...47,359,539
|
|
G |
Rhoa |
ras homolog family member A |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:16492715 |
RGD:2298879 |
NCBI chr 8:117,870,548...117,904,303
|
|
G |
Rock2 |
Rho-associated coiled-coil containing protein kinase 2 |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:16492715 |
RGD:2298879 |
NCBI chr 6:45,407,823...45,502,773
|
|
G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
IEP |
protein:increased expression, increased phosphorylation:liver |
RGD |
PMID:15769867 |
RGD:1642977 |
NCBI chr10:71,817,794...71,865,211
|
|
G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:15713222 |
RGD:14401562 |
NCBI chr20:4,575,134...4,579,727
|
|
G |
Sell |
selectin L |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:11280567 |
RGD:597000690 |
NCBI chr13:78,950,100...78,969,604
|
|
G |
Slc4a2 |
solute carrier family 4 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18188457 |
|
NCBI chr 4:11,628,860...11,646,961
|
|
G |
Slc51a |
solute carrier family 51 member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 |
|
NCBI chr11:68,299,086...68,313,485
|
|
G |
Slc51b |
SLC51 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16423920 |
|
NCBI chr 8:65,931,891...65,939,953
|
|
G |
Slco1a1 |
solute carrier organic anion transporter family, member 1a1 |
|
IEP |
protein:decreased expression:liver |
RGD |
PMID:15770136 |
RGD:14700810 |
NCBI chr 4:174,877,045...174,950,900
|
|
G |
Slco1c1 |
solute carrier organic anion transporter family, member 1c1 |
|
IEP |
protein:decreased expression:liver |
RGD |
PMID:15770136 |
RGD:14700810 |
NCBI chr 4:174,466,621...174,513,290
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:1682406 |
RGD:2317411 |
NCBI chr 1:50,043,323...50,050,168
|
|
G |
Spib |
Spi-B transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20639880 |
|
NCBI chr 1:95,018,939...95,024,804
|
|
G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 3:126,685,017...126,697,957
|
|
G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21898507 |
RGD:10043111 |
NCBI chr 1:84,558,159...84,580,616
|
|
G |
Stat4 |
signal transducer and activator of transcription 4 |
susceptibility no_association |
ISO |
DNA:SNPs, haplotypes:multiple CTD Direct Evidence: marker/mechanism associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) DNA:SNP: intron: (rs7574865) (human) DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human) |
CTD RGD |
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 PMID:24648611 |
RGD:25671415, RGD:25671421, RGD:25671416, RGD:25671415 |
NCBI chr 9:49,472,660...49,588,540
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30026087 |
|
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tjp2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary biliary cirrhosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32439973 |
|
NCBI chr 1:221,709,745...221,838,291
|
|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
protein:increased expression:liver, peripheral blood mononuclear cell (human) |
RGD |
PMID:23026026 |
RGD:18337477 |
NCBI chr 8:115,743,407...115,747,523
|
|
G |
Tnf |
tumor necrosis factor |
disease_progression |
ISO |
protein:increased expression:serum (human) protein:increased expression:blood serum(human) mRNA:increased expression:liver |
RGD |
PMID:9047083 PMID:21275501 PMID:17158635 |
RGD:14995307, RGD:407420272, RGD:38501106 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399635 |
|
NCBI chr 4:159,837,119...159,849,817
|
|
G |
Tyk2 |
tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22961000 |
|
NCBI chr 8:27,918,054...27,943,319
|
|
G |
Ubd |
ubiquitin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18422935 |
|
NCBI chr20:1,385,487...1,387,438
|
|
G |
Utp4 |
UTP4 small subunit processome component |
|
ISO |
North American Indian childhood cirrhosis, OMIM:604901, R565W |
RGD |
PMID:12417987 |
RGD:1600653 |
NCBI chr19:34,790,962...34,820,558
|
|
G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:polymorphism: : DNA:SNP: : |
GAD RGD |
PMID:15118671 PMID:15683428 PMID:19376604 |
RGD:1331525, RGD:14402024, RGD:14401750 |
NCBI chr 7:130,864,764...130,916,757
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
IEP ISO |
protein:increased expression:liver protein:increased expression:plasma: |
RGD |
PMID:26627607 PMID:26615570 |
RGD:11528851, RGD:11538286 |
NCBI chr 9:22,452,854...22,468,194
|
|
G |
Zc3h12a |
zinc finger CCCH type containing 12A |
|
ISS |
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 |
MouseDO |
|
|
NCBI chr 5:142,661,193...142,670,051
|
|
|
G |
Il12rb2 |
interleukin 12 receptor subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: IL12RB2-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:96,426,396...96,515,251
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
|
ISO |
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis |
ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16290310 PMID:16641580 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:19845854 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:21404481 PMID:21490445 PMID:22364601 PMID:23437912 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24627769 PMID:25741868 PMID:25847299 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27239116 PMID:27426735 PMID:27493120 PMID:28027573 PMID:28119944 PMID:28425419 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30210030 PMID:30366773 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:33215027 PMID:33915153 PMID:34016879 PMID:35257483 PMID:35780807 PMID:37471416 More...
|
|
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis |
ClinVar |
PMID:11313316 PMID:12746424 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:21119540 PMID:22331132 PMID:22343912 PMID:22527017 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:25133187 PMID:25741868 PMID:25755323 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26256905 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26900700 PMID:27256251 PMID:28039895 PMID:28220208 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29761167 PMID:30036524 PMID:30449124 PMID:31000363 PMID:31130284 PMID:31181191 PMID:31538484 PMID:31538486 PMID:31625567 PMID:31728073 PMID:32376413 PMID:32581362 PMID:32626542 PMID:32793533 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:34961929 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
|
|
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
|
ISO |
ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis |
ClinVar |
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 PMID:9918928 PMID:11093741 PMID:11815775 PMID:12149765 PMID:12927934 PMID:14976163 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:16374853 PMID:17576681 PMID:18379143 PMID:18937870 PMID:19260995 PMID:19381753 PMID:19731236 PMID:19918981 PMID:20038848 PMID:20232290 PMID:20414253 PMID:20683201 PMID:20852622 PMID:20981092 PMID:22525741 PMID:22995991 PMID:23060447 PMID:24033266 PMID:24260417 PMID:25315773 PMID:25741868 PMID:26126923 PMID:26382629 PMID:26594346 PMID:26678486 PMID:26756876 PMID:26823041 PMID:26858187 PMID:26879107 PMID:27050426 PMID:28045770 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:31555573 PMID:32650689 PMID:32695736 PMID:33223529 PMID:33437900 PMID:33666275 PMID:34016879 PMID:34543749 PMID:34679599 PMID:35626323 PMID:35780807 PMID:35894240 More...
|
|
NCBI chr18:60,286,605...60,427,862
|
|
G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis |
ClinVar |
PMID:8213816 PMID:16941474 PMID:17309651 PMID:21520340 PMID:23337983 PMID:23430803 PMID:25741868 PMID:26646981 PMID:27619815 PMID:28492532 PMID:33258288 PMID:33737400 More...
|
|
NCBI chr 8:122,963,718...123,036,326
|
|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
|
ISO |
ClinVar Annotator: match by term: Byler disease |
ClinVar |
PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 |
|
NCBI chr 7:25,733,471...25,829,440
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21056966 |
|
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Byler disease |
CTD ClinVar |
PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19584064 PMID:20042859 PMID:20537830 PMID:21056966 PMID:21119540 PMID:22331132 PMID:22343912 PMID:22675952 PMID:23022423 PMID:23533021 PMID:24723470 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26900700 PMID:27256251 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29761167 PMID:31000363 PMID:31538484 PMID:32581362 PMID:32626542 PMID:32793533 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:34961929 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 More...
|
|
NCBI chr 4:26,106,895...26,164,440
|
|
G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
|
ISO |
ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 PMID:9918928 PMID:11093741 PMID:12149765 PMID:14976163 PMID:14988830 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:16374853 PMID:17576681 PMID:18379143 PMID:18937870 PMID:19260995 PMID:19381753 PMID:19731236 PMID:19918981 PMID:20038848 PMID:20232290 PMID:20414253 PMID:20683201 PMID:20852622 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:26594346 PMID:26756876 PMID:26823041 PMID:26858187 PMID:26879107 PMID:27050426 PMID:28045770 PMID:28492532 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:30366773 PMID:31450232 PMID:31555573 PMID:32650689 PMID:32695736 PMID:33223529 PMID:33437900 PMID:33666275 PMID:34016879 PMID:34543749 PMID:34679599 PMID:35626323 PMID:35780807 PMID:35894240 More...
|
|
NCBI chr18:60,286,605...60,427,862
|
|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
|
ISO |
ClinVar Annotator: match by term: Byler disease |
ClinVar |
PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 |
|
NCBI chr 7:25,733,471...25,829,440
|
|
|
G |
Myo5b |
myosin Vb |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 |
OMIM ClinVar |
PMID:18724368 PMID:20186687 PMID:24248336 PMID:25741868 PMID:27532546 PMID:28027573 PMID:28492532 PMID:32304554 PMID:33525641 More...
|
|
NCBI chr18:70,313,717...70,613,918
|
|
|
G |
Sema7a |
semaphorin 7A (John Milton Hagen blood group) |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 |
OMIM ClinVar |
PMID:34585848 |
|
NCBI chr 8:58,348,448...58,370,536
|
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 |
OMIM ClinVar |
PMID:18853461 PMID:25741868 PMID:31479177 |
|
NCBI chr 1:143,633,167...143,656,228
|
|
|
G |
Pskh1 |
protein serine kinase H1 |
|
ISO |
ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 |
OMIM ClinVar |
PMID:39132680 |
|
NCBI chr19:50,704,780...50,736,890
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
disease_progression |
ISO |
ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 CTD Direct Evidence: marker/mechanism DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human DNA:mutation:cds:p.D482G(human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 PMID:12717091 PMID:14672610 PMID:14999697 PMID:15077010 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16763017 PMID:16871584 PMID:17241866 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:18937870 PMID:19101985 PMID:19571440 PMID:19750581 PMID:19797282 PMID:19845854 PMID:20010382 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:20799350 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23684896 PMID:23750872 PMID:24033266 PMID:24115678 PMID:24214725 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28454995 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29412511 PMID:30091450 PMID:30210030 PMID:30934130 PMID:31015375 PMID:31296176 PMID:31319225 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:32917322 PMID:32942997 PMID:33201677 PMID:33215027 PMID:33915153 PMID:34008892 PMID:34016879 PMID:34942279 PMID:35257483 PMID:35780807 PMID:35894240 PMID:36142670 PMID:23758865 PMID:20447715 More...
|
RGD:14688048, RGD:14402418 |
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
|
ISO |
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 |
ClinVar |
PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr18:60,286,605...60,427,862
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
|
ISO |
ClinVar Annotator: match by term: MDR3 deficiency |
ClinVar |
PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 PMID:27114171 PMID:28492532 PMID:28733223 PMID:33915153 More...
|
|
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 PMID:12624161 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17241866 PMID:17576681 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20683201 PMID:20849526 PMID:21119540 PMID:21514256 PMID:22184139 PMID:22331132 PMID:22343912 PMID:22527017 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25593501 PMID:25741868 PMID:25755323 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28220208 PMID:28355206 PMID:28492532 PMID:28552422 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:30036524 PMID:30366773 PMID:31000363 PMID:31130284 PMID:31319225 PMID:31538484 PMID:31538486 PMID:31625567 PMID:31728073 PMID:31759867 PMID:32321542 PMID:32376413 PMID:32581362 PMID:32626542 PMID:32793533 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33215027 PMID:33258288 PMID:33390354 PMID:33554096 PMID:33742171 PMID:33757843 PMID:33763395 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 PMID:37208429 PMID:38374565 More...
|
|
NCBI chr 4:26,106,895...26,164,440
|
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 |
ClinVar |
PMID:9806540 PMID:12370274 PMID:14672610 PMID:15791618 PMID:17855769 PMID:18395098 PMID:19101985 PMID:25741868 PMID:25847299 PMID:26019043 PMID:26678486 PMID:28492532 More...
|
|
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Tjp2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 |
OMIM ClinVar |
PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:26467025 PMID:28039895 PMID:28492532 PMID:28924228 PMID:29238877 PMID:30311386 PMID:32089630 PMID:32439973 More...
|
|
NCBI chr 1:221,709,745...221,838,291
|
|
G |
Usp53 |
ubiquitin specific peptidase 53 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993 |
|
NCBI chr 2:211,059,512...211,120,942
|
|
|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition |
OMIM ClinVar |
PMID:11030617 PMID:17519356 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 PMID:26888176 PMID:28492532 PMID:31201556 More...
|
|
NCBI chr 7:25,733,471...25,829,440
|
|
|
G |
Slc51a |
solute carrier family 51 member A |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 |
OMIM ClinVar |
PMID:25741868 PMID:31863603 PMID:32247663 |
|
NCBI chr11:68,299,086...68,313,485
|
|
|
G |
Usp53 |
ubiquitin specific peptidase 53 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | ClinVar Annotator: match by term: USP53-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30250217 PMID:32124521 PMID:32759993 PMID:33075013 PMID:34608165 More...
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NCBI chr 2:211,059,512...211,120,942
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G |
Kif12 |
kinesin family member 12 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 |
OMIM ClinVar |
PMID:25741868 PMID:30250217 PMID:30976738 PMID:34555379 |
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NCBI chr 5:76,596,204...76,603,261
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G |
Zfyve19 |
zinc finger FYVE-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 |
OMIM ClinVar |
PMID:25741868 PMID:32737136 PMID:33853651 |
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NCBI chr 3:106,195,779...106,203,969
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome |
OMIM ClinVar |
PMID:18382993 PMID:20522425 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30448303 PMID:32827848 PMID:34567078 PMID:36307859 More...
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NCBI chr13:93,539,386...93,564,026
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