|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32387182 |
|
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
|
|
G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32387182 |
|
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
|
|
G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32387182 |
|
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
|
|
G |
Cd14 |
CD14 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21596674 |
|
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
|
|
G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27611972 |
|
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
|
|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7543699 |
|
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
|
|
G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
|
|
G |
Gucy2c |
guanylate cyclase 2C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22436048 |
|
NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9278552 |
|
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20844880 |
|
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
|
|
G |
Lct |
lactase |
|
IDA |
|
RGD |
PMID:15977434 |
RGD:1600253 |
NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
|
|
G |
Ltf |
lactotransferrin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16640825 |
|
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
|
|
G |
Mir150 |
microRNA 150 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26937033 |
|
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
|
|
G |
Mme |
membrane metallo-endopeptidase |
treatment |
IMP |
|
RGD |
PMID:3481337 |
RGD:13801042 |
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
|
|
G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
|
RGD |
PMID:20624890 |
RGD:150520020 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
|
|
G |
Myo5b |
myosin Vb |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18724368 |
|
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
|
|
G |
Nfkbia |
NFKB inhibitor alpha |
ameliorates |
ISO |
human gene in a mouse model |
RGD |
PMID:20008138 |
RGD:126925947 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Diarrhea |
ClinVar |
PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24830548 PMID:24940029 PMID:25741868 PMID:26018082 PMID:26103963 PMID:27032803 PMID:28041643 PMID:28492532 PMID:29184169 PMID:30004997 PMID:32150116 PMID:32533184 PMID:32581362 More...
|
|
NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Diarrhea |
ClinVar |
PMID:23010199 PMID:25741868 PMID:28492532 PMID:28667292 |
|
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
G |
Pyy |
peptide YY |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19925840 |
|
NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
|
|
G |
Rasl12 |
RAS-like, family 12 |
|
ISO |
ClinVar Annotator: match by term: Diarrhea |
ClinVar |
PMID:25741868 PMID:28898457 |
|
NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
|
|
G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Diarrhea |
ClinVar |
PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
|
|
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
|
|
G |
Slc26a3 |
solute carrier family 26 member 3 |
|
ISO |
DNA:frameshift mutation, missense mutations |
RGD |
PMID:8896562 |
RGD:1600011 |
NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
|
|
G |
Slc51b |
SLC51 subunit beta |
|
ISO |
ClinVar Annotator: match by term: Diarrhea |
ClinVar |
PMID:25741868 PMID:28898457 |
|
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
|
|
G |
Slc9a3 |
solute carrier family 9 member A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26564064 |
|
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
|
|
G |
Unc45a |
unc-45 myosin chaperone A |
|
ISO |
ClinVar Annotator: match by term: Diarrhea |
ClinVar |
PMID:25741868 PMID:35575086 |
|
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
|
|
|
G |
Epcam |
epithelial cell adhesion molecule |
|
ISO ISS |
ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA OMIM:613217 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:18572020 PMID:19820410 PMID:20034091 PMID:20981223 PMID:21315192 PMID:23462293 PMID:24033266 PMID:24142340 PMID:24337010 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28701297 PMID:29068549 PMID:32293360 PMID:36988593 More...
|
|
NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
|
|
|
G |
C4h12orf60 |
similar to human chromosome 12 open reading frame 60 |
|
ISO |
ClinVar Annotator: match by term: Congenital diarrhea 6 |
ClinVar |
PMID:22436048 PMID:25741868 |
|
NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
|
|
G |
Gucy2c |
guanylate cyclase 2C |
|
ISO |
ClinVar Annotator: match by term: Congenital diarrhea 6 |
OMIM ClinVar |
PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33883099 |
|
NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
|
|
|
G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: Diarrhea 7 |
OMIM ClinVar |
PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 PMID:28373485 PMID:28492532 PMID:29604290 PMID:30095213 PMID:30237576 PMID:31589614 PMID:31618753 PMID:31778854 PMID:33607125 More...
|
|
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
|
|
|
G |
Neurog3 |
neurogenin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS |
OMIM CTD ClinVar |
PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 PMID:31178402 PMID:31805014 More...
|
|
NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
|
|
|
G |
Gucy2c |
guanylate cyclase 2C |
|
ISO |
ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
|
|
G |
Slc26a3 |
solute carrier family 26 member 3 |
|
ISO ISS |
ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type | ClinVar Annotator: match by term: Darrow-Gamble disease | ClinVar Annotator: match by term: SLC26A3-related condition OMIM:214700 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 PMID:10881594 PMID:11302976 PMID:11524734 PMID:12411484 PMID:12442266 PMID:16199547 PMID:18216024 PMID:18728535 PMID:18847625 PMID:19861545 PMID:21127979 PMID:21150650 PMID:21332001 PMID:21394828 PMID:21694535 PMID:21853658 PMID:22779076 PMID:23274434 PMID:23361499 PMID:23756661 PMID:24033266 PMID:24350656 PMID:25568271 PMID:25711268 PMID:25741868 PMID:27525615 PMID:28422190 PMID:28492532 PMID:28644346 PMID:28941661 PMID:29086717 PMID:30775050 PMID:31114672 PMID:31325522 PMID:31589614 PMID:31680349 PMID:31976143 PMID:33191723 PMID:34503561 PMID:36709934 More...
|
|
NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
|
|
|
G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 PMID:20009592 PMID:23689399 PMID:24142340 PMID:25301953 PMID:25741868 PMID:28492532 PMID:30445423 More...
|
|
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
|
|
|
G |
Slc9a3 |
solute carrier family 9 member A3 |
|
ISO |
ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 |
OMIM ClinVar |
PMID:3880821 PMID:25741868 PMID:26358773 PMID:28492532 PMID:30633106 PMID:31276831 More...
|
|
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
|
|
G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital sodium diarrhea |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
|
|
|
G |
Plvap |
plasmalemma vesicle associated protein |
|
ISO |
ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type |
OMIM ClinVar |
PMID:25741868 PMID:26207260 PMID:28492532 PMID:29661969 PMID:29875123 |
|
NCBI chr16:18,184,985...18,197,301
Ensembl chr16:18,184,975...18,197,301
|
|
|
G |
Percc1 |
proline and glutamate rich with coiled coil 1 |
|
ISO |
ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital |
OMIM ClinVar |
PMID:25741868 PMID:31217582 |
|
NCBI chr10:14,187,858...14,190,634
Ensembl chr10:14,188,216...14,189,040 Ensembl chr10:14,188,216...14,189,040
|
|
|
G |
Acsl5 |
acyl-CoA synthetase long-chain family member 5 |
|
ISO |
ClinVar Annotator: match by term: Diarrhea 13 |
OMIM ClinVar |
PMID:33191500 |
|
NCBI chr 1:254,289,513...254,336,608
Ensembl chr 1:254,292,521...254,336,607
|
|
|
G |
Arid2 |
AT-rich interaction domain 2 |
|
ISO |
ClinVar Annotator: match by term: Chronic diarrhea |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
|
|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic diarrhea |
ClinVar |
PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 PMID:25042743 PMID:25741868 PMID:26604104 PMID:26743090 PMID:27379765 PMID:27577878 PMID:28492532 PMID:28597685 More...
|
|
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Chronic diarrhea |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
|
|
G |
Wnt2b |
Wnt family member 2B |
|
ISO |
ClinVar Annotator: match by term: Diarrhea 9 |
ClinVar OMIM |
PMID:29909964 |
|
NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
|
|
|
G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
treatment |
IEP |
|
RGD |
PMID:31368281 |
RGD:405650608 |
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
|
|
|
G |
Akap4 |
A-kinase anchoring protein 4 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
|
|
G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
|
|
G |
Bmp15 |
bone morphogenetic protein 15 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
|
|
G |
Ccdc120 |
coiled-coil domain containing 120 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
|
|
G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 |
|
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
|
|
G |
Ccnb3 |
cyclin B3 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
|
|
G |
Cdk16 |
cyclin-dependent kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
|
|
G |
Cfp |
complement factor properdin |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
|
|
G |
Dgkk |
diacylglycerol kinase kappa |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
|
|
G |
Dock8 |
dedicator of cytokinesis 8 |
|
ISO |
DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) |
RGD |
PMID:29058101 |
RGD:40886273 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
|
|
G |
Ebp |
EBP, cholestenol delta-isomerase |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
|
|
G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
|
|
G |
Eras |
ES cell expressed Ras |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
|
|
G |
Foxp3 |
forkhead box P3 |
|
ISO ISS |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM:304790 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:11768393 PMID:12161590 PMID:14671208 PMID:15096376 PMID:16199547 PMID:16630773 PMID:16741580 PMID:16920951 PMID:17576681 PMID:17586580 PMID:17635943 PMID:18414213 PMID:18795917 PMID:18820676 PMID:18931102 PMID:18951619 PMID:19189134 PMID:19471859 PMID:19633572 PMID:20537998 PMID:20650610 PMID:21036387 PMID:22000569 PMID:22581967 PMID:22590469 PMID:23313429 PMID:23534934 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24792626 PMID:24916357 PMID:24982679 PMID:25326164 PMID:25363768 PMID:25546394 PMID:25741868 PMID:25911531 PMID:26467025 PMID:26661331 PMID:26748374 PMID:26748735 PMID:27167055 PMID:27783946 PMID:28289675 PMID:28492532 PMID:28778586 PMID:28783662 PMID:28993341 PMID:29193502 PMID:29241729 PMID:29312905 PMID:29896738 PMID:29907148 PMID:30191644 PMID:30293990 PMID:30385752 PMID:30443250 PMID:30510991 PMID:30805323 PMID:30894704 PMID:31027649 PMID:31130284 PMID:31990476 PMID:32279225 PMID:32531870 PMID:33046911 PMID:33194927 PMID:33523441 PMID:33637067 PMID:33751536 PMID:33833438 PMID:34216291 PMID:11137992 More...
|
RGD:1598959 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
|
|
G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
|
|
G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
|
|
G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
|
|
G |
Gpkow |
G patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
|
|
G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
|
|
G |
Jade3 |
jade family PHD finger 3 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,668,873...1,848,781
Ensembl chr X:1,669,930...1,845,138
|
|
G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
|
|
G |
Magix |
MAGI family member, X-linked |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
|
|
G |
Mir500 |
microRNA 500 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
|
|
G |
Mir532 |
microRNA 532 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
|
|
G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
|
|
G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
|
|
G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
|
|
G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
|
|
G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
|
|
G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
|
|
G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
|
|
G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
|
|
G |
Praf2 |
PRA1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
|
|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
|
|
G |
Rbm10 |
RNA binding motif protein 10 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
|
|
G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
|
|
G |
Rgn |
regucalcin |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
|
|
G |
Shroom4 |
shroom family member 4 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
|
|
G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
|
|
G |
Slc38a5 |
solute carrier family 38, member 5 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
|
|
G |
Slc9a7 |
solute carrier family 9 member A7 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
|
|
G |
Spaca5 |
sperm acrosome associated 5 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
|
|
G |
Ssx1 |
SSX family member 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
|
|
G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
|
|
G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:141,792,589...141,795,257
|
|
G |
Syn1 |
synapsin I |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
|
|
G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
|
|
G |
Tbc1d25 |
TBC1 domain family, member 25 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
|
|
G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
|
|
G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
|
|
G |
Uba1 |
ubiquitin-like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
|
|
G |
Usp11 |
ubiquitin specific peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
|
|
G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
|
|
G |
Uxt |
ubiquitously-expressed, prefoldin-like chaperone |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
|
|
G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
|
|
G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
|
|
G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
|
|
G |
Zfp157 |
zinc finger protein 157 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
|
|
G |
Zfp182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
|
|
G |
Znf81 |
zinc finger protein 81 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
|
|
|
G |
Cdc42 |
cell division cycle 42 |
|
ISS |
OMIM:251850 |
MouseDO |
|
|
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
|
|
G |
Myo5b |
myosin Vb |
|
ISO ISS |
ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM:251850 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:21282656 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:26553929 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:28899465 PMID:29218485 PMID:29266534 PMID:31750554 PMID:32304554 PMID:32888943 PMID:33525641 More...
|
|
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
|
|
|
G |
Stx3 |
syntaxin 3 |
|
ISO |
ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy |
OMIM ClinVar |
PMID:24726755 PMID:28492532 PMID:29282386 |
|
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
|
|
|
G |
Unc45a |
unc-45 myosin chaperone A |
|
ISO |
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 |
|
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
|
|
|
G |
Slc10a2 |
solute carrier family 10 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bile acid malabsorption, primary |
CTD ClinVar |
PMID:9109432 PMID:16541252 PMID:19823678 PMID:21341987 PMID:21649730 PMID:23374508 PMID:25027376 PMID:25741868 PMID:28039895 PMID:28492532 PMID:34192422 More...
|
|
NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
|
|
|
G |
Slc10a2 |
solute carrier family 10 member 2 |
|
ISO |
ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 | ClinVar Annotator: match by term: SLC10A2-related condition |
OMIM ClinVar |
PMID:9109432 PMID:9536098 PMID:16541252 PMID:17576681 PMID:19653651 PMID:19823678 PMID:21341987 PMID:21649730 PMID:23374508 PMID:25027376 PMID:25741868 PMID:28039895 PMID:28492532 PMID:28663304 PMID:30919572 PMID:34192422 More...
|
|
NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
|
|
|
G |
Rasl12 |
RAS-like, family 12 |
|
ISO |
ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 |
ClinVar |
PMID:25741868 PMID:28898457 |
|
NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
|
|
G |
Slc51b |
SLC51 subunit beta |
|
ISO |
ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 |
OMIM ClinVar |
PMID:25741868 PMID:28898457 |
|
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
|
|
|
G |
Agr2 |
anterior gradient 2, protein disulphide isomerase family member |
|
ISO |
ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea |
OMIM ClinVar |
PMID:25741868 PMID:34952832 |
|
NCBI chr 6:52,708,602...52,729,378
Ensembl chr 6:52,708,602...52,729,371
|
|
|
G |
Stx3 |
syntaxin 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease |
OMIM ClinVar |
|
|
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
|
|
|
G |
Treh |
trehalase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency |
OMIM CTD ClinVar |
PMID:25741868 PMID:28406212 |
|
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
|
|
|
G |
Nelfe |
negative elongation factor complex member E |
|
ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
|
|
G |
Skic2 |
SKI2 subunit of superkiller complex |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
CTD ClinVar |
PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:33098347 PMID:33249554 PMID:35607352 More...
|
|
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
|
|
G |
Skic3 |
SKI3 subunit of superkiller complex |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28492532 PMID:29527791 PMID:33864888 PMID:34037310 PMID:35108801 PMID:35464432 More...
|
|
NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
|
|
|
G |
Agk |
acylglycerol kinase |
|
ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 |
ClinVar |
PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28868593 More...
|
|
NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
|
|
G |
Skic3 |
SKI3 subunit of superkiller complex |
|
ISO |
ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 |
OMIM ClinVar |
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28292286 PMID:28492532 PMID:28750028 PMID:29527791 PMID:33864888 PMID:34093558 PMID:35108801 PMID:35366317 More...
|
|
NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
|
|
|
G |
Skic2 |
SKI2 subunit of superkiller complex |
|
ISO |
ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27050310 PMID:27431780 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:32313153 PMID:32963807 PMID:33098347 PMID:33114497 PMID:33249554 PMID:34414925 PMID:35607352 More...
|
|
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
|
|