|
G |
AGA |
aspartylglucosaminidase |
susceptibility |
ISO |
|
RGD |
PMID:1703489 |
RGD:1598773 |
NCBI chr 4:169,624,480...169,635,810
Ensembl chr 4:181,855,136...181,870,473
|
|
G |
CTSA |
cathepsin A |
|
ISO |
|
RGD |
PMID:8514852 |
RGD:1599169 |
NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
|
|
G |
GLA |
galactosidase alpha |
|
ISO |
|
RGD |
PMID:29563343 |
RGD:150429980 |
NCBI chr X:90,600,412...90,610,594
Ensembl chr X:100,732,311...100,742,280
|
|
G |
SLC17A5 |
solute carrier family 17 member 5 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
|
|
|
G |
CTNS |
cystinosin, lysosomal cystine transporter |
|
ISO |
ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome |
ClinVar |
PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:21305353 PMID:21546516 PMID:21786142 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28465352 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29467429 PMID:30554218 PMID:30957593 PMID:31074291 PMID:31672123 PMID:33532864 PMID:33661986 PMID:33822926 PMID:35738466 More...
|
|
NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
|
|
G |
SHPK |
sedoheptulokinase |
|
ISO |
ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome |
ClinVar |
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:25741868 PMID:27734949 More...
|
|
NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
|
|
G |
TAX1BP3 |
Tax1 binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome |
ClinVar |
|
|
NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
|
|
G |
TRPV1 |
transient receptor potential cation channel subfamily V member 1 |
|
ISO |
ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome |
ClinVar |
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:25741868 PMID:27734949 More...
|
|
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
|
|
|
G |
ADIPOQ |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:16115302 |
RGD:5686674 |
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
|
|
G |
ADIPOR2 |
adiponectin receptor 2 |
treatment |
ISO |
|
RGD |
PMID:18755807 PMID:22013387 PMID:26115886 PMID:27220557 |
RGD:25330099 RGD:25440493 RGD:25824939 RGD:25824943 |
NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
|
|
G |
ADRA2A |
adrenoceptor alpha 2A |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:30009772 |
RGD:401976534 |
NCBI chr10:107,669,860...107,673,685
|
|
G |
ALDH2 |
aldehyde dehydrogenase 2 family member |
treatment susceptibility severity |
ISO |
protein:altered processing:liver (mouse) DNA:missense mutation:cds:p.E504K (human) human transgene in mouse model |
RGD |
PMID:17058263 PMID:25457208 PMID:29063269 PMID:29156373 |
RGD:14696776 RGD:15036805 RGD:15036811 RGD:1599041 |
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
|
|
G |
ARRB2 |
arrestin beta 2 |
ameliorates |
ISO |
protein:increased expression:hepatocyte |
RGD |
PMID:33871024 |
RGD:401938594 |
NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:29307797 |
RGD:153297819 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
C1QC |
complement C1q C chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35789393 |
|
NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
|
RGD |
PMID:25557254 |
RGD:14995489 |
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
treatment |
ISO |
|
RGD |
PMID:25557254 |
RGD:14995489 |
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
|
|
G |
CCR5 |
C-C motif chemokine receptor 5 |
disease_progression |
ISO |
|
RGD |
PMID:27859576 |
RGD:14401742 |
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
|
|
G |
CD36 |
CD36 molecule (CD36 blood group) |
|
ISO |
|
RGD |
PMID:24280415 |
RGD:11041117 |
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
|
|
G |
CRP |
C-reactive protein |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:21806828 |
RGD:9491781 |
NCBI chr 1:135,062,102...135,064,402
|
|
G |
CTSB |
cathepsin B |
|
ISO |
protein:increased activity:liver, cytosol (rat) |
RGD |
PMID:17850215 |
RGD:2315516 |
NCBI chr 8:7,333,498...7,359,264
|
|
G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:24064383 PMID:25583360 PMID:26428356 |
RGD:14700870 RGD:14700884 |
Ensembl chr10:134,839,025...134,852,719
|
|
G |
DNMT1 |
DNA methyltransferase 1 |
|
ISO |
|
RGD |
PMID:22905112 |
RGD:9588654 |
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
|
|
G |
FKBP5 |
FKBP prolyl isomerase 5 |
ameliorates |
ISO |
mRNA,protein:incrased expression:liver (human) |
RGD |
PMID:33710653 |
RGD:401976495 |
NCBI chr 6:35,135,745...35,250,860
Ensembl chr 6:36,337,883...36,452,664
|
|
G |
FOXO1 |
forkhead box O1 |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:30009772 |
RGD:401976534 |
NCBI chr13:21,763,729...21,874,279
|
|
G |
HAMP |
hepcidin antimicrobial peptide |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:19253830 |
RGD:11041633 |
NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
|
|
G |
LDLR |
low density lipoprotein receptor |
|
ISO |
protein:decreased expression: liver (rat) |
RGD |
PMID:20028367 |
RGD:21410185 |
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
|
|
G |
LOC100976904 |
growth-regulated alpha protein |
ameliorates |
ISO |
|
RGD |
PMID:33710653 |
RGD:401976495 |
NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
|
|
G |
NLRC5 |
NLR family CARD domain containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36708882 |
|
NCBI chr16:37,267,541...37,361,369
Ensembl chr16:56,433,204...56,494,027
|
|
G |
NR1H3 |
nuclear receptor subfamily 1 group H member 3 |
treatment |
ISO |
|
RGD |
PMID:26256083 |
RGD:11522097 |
NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
|
|
G |
PEMT |
phosphatidylethanolamine N-methyltransferase |
|
ISO |
|
RGD |
PMID:17156888 |
RGD:1642369 |
NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202
|
|
G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18703563 |
|
Ensembl chr22:45,218,364...45,302,970
|
|
G |
SERPINE1 |
serpin family E member 1 |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25561792 |
RGD:11075083 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SERPINF1 |
serpin family F member 1 |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:18996124 |
RGD:2312349 |
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
|
|
G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19951287 |
|
NCBI chr21:18,029,831...18,037,526
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:11477087 |
RGD:1625694 |
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
STAT4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:18296740 |
RGD:7207884 |
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
|
|
G |
TEAD1 |
TEA domain transcription factor 1 |
ameliorates |
ISO |
|
RGD |
PMID:33710653 |
RGD:401976495 |
NCBI chr11:12,841,564...13,111,506
Ensembl chr11:12,624,281...12,796,541
|
|
G |
TLR4 |
toll like receptor 4 |
severity |
ISO |
|
RGD |
PMID:21463341 PMID:29884546 |
RGD:14697697 RGD:14700554 |
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
|
|
G |
TNF |
tumor necrosis factor |
susceptibility treatment |
ISO |
DNA:SNP:promoter:-238G>A (human) |
RGD |
PMID:9214463 PMID:20143470 |
RGD:14995434 RGD:38508901 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
UBD |
ubiquitin D |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:30009772 |
RGD:401976534 |
NCBI chr 6:29,359,680...29,364,014
Ensembl chr 6:30,018,444...30,022,814
|
|
|
G |
ACP5 |
acid phosphatase 5, tartrate resistant |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203
|
|
G |
ANGPTL8 |
angiopoietin like 8 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,787,457...10,790,090
Ensembl chr19:11,498,069...11,500,400
|
|
G |
BEST2 |
bestrophin 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033
|
|
G |
C20H19orf38 |
chromosome 20 C19orf38 homolog |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641
|
|
G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
|
|
G |
CALR |
calreticulin |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
|
|
G |
CARM1 |
coactivator associated arginine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
|
|
G |
CCDC159 |
coiled-coil domain containing 159 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,893,751...10,902,271
Ensembl chr19:11,604,405...11,612,516
|
|
G |
CNN1 |
calponin 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,084,862...11,096,374
Ensembl chr19:11,796,523...11,807,680
|
|
G |
DAND5 |
DAN domain BMP antagonist family member 5 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,529,830...12,536,052
|
|
G |
DHPS |
deoxyhypusine synthase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
|
|
G |
DNASE2 |
deoxyribonuclease 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650
|
|
G |
DNM2 |
dynamin 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
|
|
G |
DOCK6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
|
|
G |
ECSIT |
ECSIT signaling integrator |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,052,057...11,075,308
Ensembl chr19:11,763,701...11,786,743
|
|
G |
ELAVL3 |
ELAV like RNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,997,557...11,027,182
Ensembl chr19:11,711,767...11,737,764
|
|
G |
ELOF1 |
elongation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,099,049...11,105,333
|
|
G |
EPOR |
erythropoietin receptor |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
|
|
G |
FARSA |
phenylalanyl-tRNA synthetase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244
|
|
G |
FBXW9 |
F-box and WD repeat domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564
|
|
G |
GADD45GIP1 |
GADD45G interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044
|
|
G |
GCDH |
glutaryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
|
|
G |
GET3 |
guided entry of tail-anchored proteins factor 3, ATPase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908
|
|
G |
HOOK2 |
hook microtubule tethering protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612
|
|
G |
IER2 |
immediate early response 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910
|
|
G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
|
|
G |
KANK2 |
KN motif and ankyrin repeat domains 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
|
|
G |
KLF1 |
KLF transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
|
|
G |
LDLR |
low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
|
|
G |
LOC100986306 |
zinc finger protein 563 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,876,162...11,892,400
Ensembl chr19:12,638,203...12,653,371
|
|
G |
LOC100986980 |
zinc finger protein 763 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,525,905...11,529,331
Ensembl chr19:12,283,031...12,296,554
|
|
G |
LOC100988443 |
zinc finger protein 823 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,268,763...11,286,973
Ensembl chr19:11,978,214...11,995,986
|
|
G |
LOC100988783 |
zinc finger protein 441 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,314,513...11,332,116
Ensembl chr19:12,024,203...12,041,081
|
|
G |
LOC103785277 |
zinc finger protein 433 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,563,747...11,585,319
Ensembl chr19:12,332,398...12,353,203
|
|
G |
LYL1 |
LYL1 basic helix-loop-helix family member |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309
|
|
G |
MAN2B1 |
mannosidase alpha class 2B member 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar Annotator: match by term: Mannosidosis, alpha B lysosomal |
OMIM ClinVar |
PMID:724292 PMID:1472354 PMID:4358183 PMID:9158146 PMID:9370301 PMID:9536098 PMID:9758606 PMID:9915946 PMID:10071201 PMID:11959458 PMID:12634058 PMID:12718372 PMID:14765545 PMID:15035660 PMID:15712269 PMID:16199547 PMID:16919251 PMID:17404523 PMID:17576681 PMID:17979865 PMID:18414213 PMID:19958498 PMID:20165920 PMID:20301570 PMID:21505070 PMID:22161967 PMID:22700954 PMID:23596069 PMID:23613340 PMID:24033266 PMID:24353136 PMID:24767253 PMID:25640679 PMID:25741868 PMID:25762455 PMID:26048034 PMID:26633542 PMID:26633546 PMID:26817023 PMID:27149842 PMID:27959697 PMID:28492532 PMID:28559085 PMID:28714951 PMID:29859105 PMID:30091983 PMID:30548430 PMID:31241255 PMID:31785789 PMID:32331969 PMID:32860008 PMID:34011629 PMID:34234304 PMID:34614013 More...
|
|
NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
|
|
G |
MAST1 |
microtubule associated serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569
|
|
G |
NACC1 |
nucleus accumbens associated 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
|
|
G |
NFIX |
nuclear factor I X |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406
|
|
G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
|
|
G |
PRDX2 |
peroxiredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
|
|
G |
PRKCSH |
PRKCSH beta subunit of glucosidase II |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728
|
|
G |
RAB3D |
RAB3D, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,869,402...10,887,005
Ensembl chr19:11,579,669...11,597,158
|
|
G |
RAD23A |
RAD23 homolog A, nucleotide excision repair protein |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482
|
|
G |
RGL3 |
ral guanine nucleotide dissociation stimulator like 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,932,016...10,966,701
Ensembl chr19:11,652,700...11,685,293
|
|
G |
RNASEH2A |
ribonuclease H2 subunit A |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514
|
|
G |
RTBDN |
retbindin |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842
|
|
G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
|
|
G |
SPC24 |
SPC24 component of NDC80 kinetochore complex |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,695,488...10,705,849
|
|
G |
STX10 |
syntaxin 10 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422
|
|
G |
SWSAP1 |
SWIM-type zinc finger 7 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,920,774...10,923,769
Ensembl chr19:11,632,682...11,634,202
|
|
G |
SYCE2 |
synaptonemal complex central element protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052
|
|
G |
TIMM29 |
translocase of inner mitochondrial membrane 29 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,482,351...10,483,890
|
|
G |
TMED1 |
transmembrane p24 trafficking protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744
|
|
G |
TMEM205 |
transmembrane protein 205 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,890,020...10,893,608
Ensembl chr19:11,601,256...11,604,203
|
|
G |
TNPO2 |
transportin 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317
|
|
G |
TRIR |
telomerase RNA component interacting RNase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866
|
|
G |
TRMT1 |
tRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,666,426...12,679,454
|
|
G |
TSPAN16 |
tetraspanin 16 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,844,955...10,864,526
Ensembl chr19:11,555,377...11,584,606
|
|
G |
WDR83 |
WD repeat domain 83 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 |
|
NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221
|
|
G |
WDR83OS |
WD repeat domain 83 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 |
|
NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896
|
|
G |
YIPF2 |
Yip1 domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248
|
|
G |
ZNF136 |
zinc finger protein 136 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,752,504...11,796,167
Ensembl chr19:12,490,274...12,516,458 Ensembl chr19:12,490,274...12,516,458
|
|
G |
ZNF20 |
zinc finger protein 20 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,687,783...11,702,790
Ensembl chr19:12,456,470...12,467,459
|
|
G |
ZNF443 |
zinc finger protein 443 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,991,563...12,021,852
|
|
G |
ZNF490 |
zinc finger protein 490 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,138,375...12,173,313
Ensembl chr19:12,889,625...12,919,759
|
|
G |
ZNF491 |
zinc finger protein 491 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,346,661...11,356,232
|
|
G |
ZNF564 |
zinc finger protein 564 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:12,088,249...12,141,600
Ensembl chr19:12,836,581...12,861,815
|
|
G |
ZNF625 |
zinc finger protein 625 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,695,318...11,715,239
Ensembl chr19:12,466,592...12,483,466
|
|
G |
ZNF627 |
zinc finger protein 627 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,121,041...11,165,305
Ensembl chr19:11,853,313...11,875,349
|
|
G |
ZNF653 |
zinc finger protein 653 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,029,561...11,051,967
Ensembl chr19:11,740,585...11,763,707
|
|
G |
ZNF709 |
zinc finger protein 709 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,026,842...12,076,648
|
|
G |
ZNF791 |
zinc finger protein 791 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,173,427...12,195,067
|
|
G |
ZNF878 |
zinc finger protein 878 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of alpha-mannosidase |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,592,589...11,602,765
Ensembl chr19:12,361,219...12,369,278
|
|
|
G |
ANKIB1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
|
|
G |
KRIT1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
|
|
|
G |
AGA |
aspartylglucosaminidase |
|
ISO |
ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type |
OMIM ClinVar |
PMID:1427775 PMID:1559710 PMID:1703489 PMID:1722323 PMID:1756604 PMID:1765378 PMID:1879549 PMID:1904874 PMID:2011603 PMID:2811876 PMID:6883788 PMID:7627186 PMID:7881426 PMID:8064811 PMID:8172656 PMID:8457202 PMID:8702913 PMID:8776587 PMID:8830180 PMID:9137882 PMID:9536098 PMID:9737998 PMID:9742145 PMID:10399108 PMID:10571008 PMID:11309371 PMID:11754099 PMID:15365992 PMID:16199547 PMID:17576681 PMID:18992224 PMID:21228398 PMID:23271757 PMID:24033266 PMID:25456816 PMID:25525159 PMID:25741868 PMID:27876883 PMID:28492532 PMID:29247835 PMID:29930972 PMID:29993127 PMID:30564628 PMID:33439067 More...
|
|
NCBI chr 4:169,624,480...169,635,810
Ensembl chr 4:181,855,136...181,870,473
|
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
OMIM ClinVar |
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 PMID:9536098 PMID:11309366 PMID:15856305 PMID:16199547 PMID:17576681 PMID:17616409 PMID:17919309 PMID:19267410 PMID:20484222 PMID:24033266 PMID:24925315 PMID:25741868 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:34649574 PMID:35456468 More...
|
|
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
|
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency |
ClinVar OMIM |
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 PMID:28492532 PMID:29995202 PMID:30632081 PMID:31069529 PMID:31319425 PMID:31439510 PMID:32180488 PMID:33219486 More...
|
|
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
|
|
G |
BANK1 |
B cell scaffold protein with ankyrin repeats 1 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
|
|
G |
BDH2 |
3-hydroxybutyrate dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:95,533,173...95,556,000
Ensembl chr 4:106,157,229...106,179,402
|
|
G |
CENPE |
centromere protein E |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:95,562,005...95,654,397
Ensembl chr 4:106,185,283...106,277,229
|
|
G |
CISD2 |
CDGSH iron sulfur domain 2 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:95,251,920...95,313,404
Ensembl chr 4:105,954,880...105,975,142
|
|
G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 5:136,876,396...136,980,097
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
MANBA |
mannosidase beta |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar Annotator: match by term: Beta-mannosidase deficiency |
OMIM ClinVar |
PMID:1499588 PMID:1623631 PMID:2079835 PMID:3762648 PMID:9384606 PMID:9536098 PMID:12468273 PMID:12890191 PMID:16199547 PMID:16401745 PMID:16904924 PMID:17420068 PMID:17576681 PMID:18565776 PMID:18980795 PMID:19728872 PMID:19763152 PMID:20307669 PMID:22369051 PMID:22406018 PMID:24033266 PMID:25640679 PMID:25741867 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30311386 PMID:30455226 PMID:30552791 PMID:30872814 PMID:30951195 PMID:31115173 PMID:32847582 PMID:34906502 More...
|
|
NCBI chr 4:95,055,206...95,184,727
Ensembl chr 4:105,718,124...105,846,251
|
|
G |
NFKB1 |
nuclear factor kappa B subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
|
|
G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
|
|
G |
SLC39A8 |
solute carrier family 39 member 8 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:94,675,458...94,770,380
Ensembl chr 4:105,339,488...105,433,568
|
|
G |
SLC9B1 |
solute carrier family 9 member B1 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773
|
|
G |
SLC9B2 |
solute carrier family 9 member B2 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:95,474,854...95,532,311
Ensembl chr 4:106,100,229...106,155,749
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:96,022,788...96,162,249
Ensembl chr 4:106,644,943...106,776,172
|
|
G |
UBE2D3 |
ubiquitin conjugating enzyme E2 D3 |
|
ISO |
ClinVar Annotator: match by term: Beta-D-mannosidosis |
ClinVar |
PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 More...
|
|
NCBI chr 4:95,218,319...95,293,053
Ensembl chr 4:105,883,133...105,900,546
|
|
|
G |
CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa |
ClinVar |
PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
|
|
G |
GAA |
alpha glucosidase |
|
ISO |
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM |
ClinVar |
PMID:2111708 PMID:2203258 PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8401535 PMID:8558570 PMID:8912788 PMID:8990003 PMID:9266392 PMID:9425285 PMID:9521422 PMID:9536098 PMID:10338092 PMID:11071489 PMID:14643388 PMID:14695532 PMID:15986226 PMID:16133732 PMID:16433701 PMID:16531044 PMID:16702877 PMID:16838077 PMID:16917947 PMID:17027861 PMID:17210890 PMID:17576681 PMID:17616415 PMID:17643989 PMID:17723315 PMID:17805474 PMID:18301443 PMID:18414213 PMID:18425781 PMID:18458862 PMID:18607768 PMID:19588081 PMID:19862843 PMID:20080426 PMID:20301438 PMID:20350966 PMID:20559845 PMID:21039225 PMID:21109266 PMID:21228398 PMID:21232767 PMID:21439876 PMID:21471980 PMID:21550241 PMID:21757382 PMID:21967859 PMID:22194990 PMID:22252923 PMID:22595200 PMID:22613277 PMID:22644586 PMID:22676651 PMID:22975760 PMID:22980766 PMID:22990675 PMID:23000108 PMID:23417379 PMID:23430949 PMID:23668440 PMID:23757202 PMID:24008051 PMID:24008937 PMID:24033266 PMID:24150945 PMID:24158270 PMID:24245577 PMID:24269976 PMID:24444888 PMID:24510945 PMID:24590251 PMID:24627108 PMID:24715333 PMID:24844452 PMID:25052852 PMID:25103075 PMID:25213570 PMID:25243733 PMID:25356970 PMID:25444528 PMID:25466677 PMID:25525159 PMID:25526786 PMID:25626711 PMID:25681614 PMID:25741868 PMID:25846667 PMID:25998610 PMID:26231297 PMID:26467025 PMID:26800218 PMID:26946079 PMID:27170567 PMID:27183828 PMID:27189384 PMID:27363342 PMID:27460347 PMID:27623443 PMID:27629047 PMID:27649523 PMID:27708273 PMID:28032299 PMID:28196920 PMID:28492532 PMID:28624228 PMID:28694071 PMID:28725570 PMID:28951071 PMID:29124014 PMID:29149851 PMID:29181627 PMID:29326002 PMID:29451150 PMID:30275481 PMID:30314719 PMID:30564623 PMID:30655185 PMID:30827497 PMID:31076647 PMID:31086307 PMID:31342611 PMID:31676142 PMID:31980526 PMID:32071926 PMID:32528171 PMID:32721234 PMID:32860008 PMID:33073003 PMID:33073007 PMID:33202836 PMID:33250842 PMID:33741225 PMID:34530085 PMID:34539730 PMID:34906502 PMID:36310651 More...
|
|
NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
|
|
|
G |
AAMP |
angio associated migratory cell protein |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,523,495...105,529,550
Ensembl chr2B:224,121,531...224,127,369
|
|
G |
ANKZF1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205
|
|
G |
ARPC2 |
actin related protein 2/3 complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
|
|
G |
ASIC4 |
acid sensing ion channel subunit family member 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,770,714...106,796,044
Ensembl chr2B:225,361,477...225,386,081
|
|
G |
ATG9A |
autophagy related 9A |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065
|
|
G |
CATIP |
ciliogenesis associated TTC17 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583
|
|
G |
CDK5R2 |
cyclin dependent kinase 5 regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,217,926...106,220,444
|
|
G |
CFAP65 |
cilia and flagella associated protein 65 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490
|
|
G |
CHPF |
chondroitin polymerizing factor |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,796,215...106,801,081
Ensembl chr2B:225,386,262...225,390,886
|
|
G |
CNOT9 |
CCR4-NOT transcription complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133
|
|
G |
CNPPD1 |
cyclin Pas1/PHO80 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410
|
|
G |
CRYBA2 |
crystallin beta A2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836
|
|
G |
CTDSP1 |
CTD small phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000
|
|
G |
CXCR1 |
C-X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
|
|
G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
|
|
G |
CYP27A1 |
cytochrome P450 family 27 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis | ClinVar Annotator: match by term: Cholestanol storage disease |
OMIM ClinVar |
PMID:2019602 PMID:7697869 PMID:7860076 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8309576 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9008528 PMID:9186905 PMID:9254865 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9654207 PMID:9790667 PMID:10206677 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10741487 PMID:10775536 PMID:11181744 PMID:11313766 PMID:11737215 PMID:11903362 PMID:12000359 PMID:12270007 PMID:12555943 PMID:12933951 PMID:14741198 PMID:14999499 PMID:15795599 PMID:16157755 PMID:16199547 PMID:16278884 PMID:16372260 PMID:16816916 PMID:17030721 PMID:17319284 PMID:17444890 PMID:17576681 PMID:17697869 PMID:18227423 PMID:18414213 PMID:19092443 PMID:19204079 PMID:19373932 PMID:20301583 PMID:20402754 PMID:20450308 PMID:20558929 PMID:20602799 PMID:20925952 PMID:20981092 PMID:21073839 PMID:21228398 PMID:21345536 PMID:21404287 PMID:21553098 PMID:21627786 PMID:21645175 PMID:21764626 PMID:21955034 PMID:21958693 PMID:21966169 PMID:22197981 PMID:22336472 PMID:22849591 PMID:22878431 PMID:23212406 PMID:23287330 PMID:23659550 PMID:24002088 PMID:24033266 PMID:24080357 PMID:24174808 PMID:24584636 PMID:24627108 PMID:24746394 PMID:25112387 PMID:25447658 PMID:25525159 PMID:25558065 PMID:25741868 PMID:25862734 PMID:25941960 PMID:25983621 PMID:26156051 PMID:26206375 PMID:26467025 PMID:26519892 PMID:26622071 PMID:26643207 PMID:26861945 PMID:26906304 PMID:26937392 PMID:27084087 PMID:27142713 PMID:27225395 PMID:27455001 PMID:27535533 PMID:27678445 PMID:27680221 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28229379 PMID:28324197 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28749476 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29260356 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31384146 PMID:31450232 PMID:31743419 PMID:31796091 PMID:32523054 PMID:32581172 PMID:32714376 PMID:32793533 PMID:33020668 PMID:33313117 PMID:33400472 PMID:33414089 PMID:33624863 PMID:33659184 PMID:33830582 PMID:33977023 PMID:34012265 PMID:34103343 PMID:34145886 PMID:34234304 PMID:34689324 PMID:34930075 PMID:35949830 PMID:36628393 More...
|
|
NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
|
|
G |
DES |
desmin |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
|
|
G |
DNAJB2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
|
|
G |
DNPEP |
aspartyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699
|
|
G |
FEV |
FEV transcription factor, ETS family member |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,238,933...106,243,499
|
|
G |
GLB1L |
galactosidase beta 1 like |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610
|
|
G |
GMPPA |
GDP-mannose pyrophosphorylase A |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,756,115...106,764,280
Ensembl chr2B:225,346,029...225,354,116
|
|
G |
GPBAR1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
|
|
G |
IHH |
Indian hedgehog signaling molecule |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
|
|
G |
NHEJ1 |
non-homologous end joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
|
|
G |
OBSL1 |
obscurin like cytoskeletal adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567
|
|
G |
PLCD4 |
phospholipase C delta 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345
|
|
G |
PNKD |
PNKD metallo-beta-lactamase domain containing |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046
|
|
G |
PRKAG3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
|
NCBI chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705
|
|
G |
PRRT2 |
proline rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28590052 |
|
Ensembl chr16:30,183,352...30,187,862
|
|
G |
PTPRN |
protein tyrosine phosphatase receptor type N |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700
|
|
G |
RESP18 |
regulated endocrine specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916
|
|
G |
RETREG2 |
reticulophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024
|
|
G |
RNF25 |
ring finger protein 25 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253
|
|
G |
SLC11A1 |
solute carrier family 11 member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
|
|
G |
SLC23A3 |
solute carrier family 23 member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503
|
|
G |
SPEG |
striated muscle enriched protein kinase |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
|
|
G |
STK16 |
serine/threonine kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504
|
|
G |
STK36 |
serine/threonine kinase 36 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583
|
|
G |
TMBIM1 |
transmembrane BAX inhibitor motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170
|
|
G |
TMEM198 |
transmembrane protein 198 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,801,303...106,807,872
Ensembl chr2B:225,391,343...225,397,937
|
|
G |
TTLL4 |
tubulin tyrosine ligase like 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431
|
|
G |
USP37 |
ubiquitin specific peptidase 37 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228
|
|
G |
VIL1 |
villin 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550
|
|
G |
WNT10A |
Wnt family member 10A |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
|
|
G |
WNT6 |
Wnt family member 6 |
|
ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
|
NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171
|
|
G |
ZFAND2B |
zinc finger AN1-type containing 2B |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647
|
|
G |
ZNF142 |
zinc finger protein 142 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839
|
|
|
G |
ABHD5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
OMIM ClinVar |
PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
|
|
NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
|
|
G |
ANO10 |
anoctamin 10 |
|
ISO |
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
ClinVar |
PMID:11590543 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
|
|
G |
CDHR5 |
cadherin related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
Ensembl chr11:652,671...659,959
|
|
G |
CEND1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:804,517...807,608
Ensembl chr11:849,678...850,127
|
|
G |
DEAF1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:652,337...709,854
|
|
G |
DRD4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:640,401...646,775
|
|
G |
EPS8L2 |
EPS8 signaling adaptor L2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128
|
|
G |
GATD1 |
glutamine amidotransferase class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:784,569...794,911
Ensembl chr11:833,230...839,421
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
IRF7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
Ensembl chr11:647,827...651,314
|
|
G |
LMNTD2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:559,779...564,584
Ensembl chr11:588,816...594,794
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
PHRF1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:579,487...608,251
Ensembl chr11:616,738...647,496
|
|
G |
PIDD1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436
|
|
G |
PNPLA2 |
patatin like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:20370797 PMID:21170305 PMID:21544567 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25287355 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:30738494 PMID:31525260 PMID:32041611 PMID:35460704 More...
|
|
NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
|
|
G |
RASSF7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:561,525...569,852
Ensembl chr11:596,433...598,823
|
|
G |
RPLP2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:827,500...830,490
Ensembl chr11:870,709...874,253
|
|
G |
SCT |
secretin |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:632,073...634,296
|
|
G |
SLC25A22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
|
|
G |
TALDO1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744
|
|
G |
TMEM80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:709,907...719,140
Ensembl chr11:754,169...763,695
|
|
|
G |
LIPA |
lipase A, lysosomal acid type |
|
ISO |
ClinVar Annotator: match by term: Cholesteryl ester storage disease |
ClinVar OMIM |
PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29958253 PMID:30684275 PMID:31182375 PMID:31230978 PMID:31392116 More...
|
|
NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
|
|
G |
TSPO |
translocator protein |
|
ISO |
|
RGD |
PMID:29074640 |
RGD:150429771 |
NCBI chr22:24,034,918...24,046,370
Ensembl chr22:42,233,619...42,244,930
|
|
|
G |
ASCC1 |
activating signal cointegrator 1 complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:68,646,113...68,740,097
Ensembl chr10:71,082,355...71,207,096
|
|
G |
CHST3 |
carbohydrate sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar OMIM |
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:33402667 PMID:35456468 More...
|
|
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
|
|
G |
SPOCK2 |
SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:68,522,002...68,552,001
Ensembl chr10:71,048,773...71,074,203
|
|
G |
VSIR |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613
|
|
|
G |
ADK |
adenosine kinase |
|
ISO |
|
RGD |
PMID:11997462 |
RGD:1300259 |
NCBI chr10:70,672,967...71,236,950
Ensembl chr10:73,342,900...73,902,490
|
|
|
G |
CTNS |
cystinosin, lysosomal cystine transporter |
susceptibility treatment |
ISO |
ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis DNA:mutations:multiple (human) human gene in a mouse model |
OMIM ClinVar RGD |
PMID:9536098 PMID:9537412 PMID:9792862 PMID:10068513 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18578013 PMID:18752449 PMID:19580442 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:21305353 PMID:21546516 PMID:21786142 PMID:21963264 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24385851 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:27102039 PMID:27451386 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28465352 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29127259 PMID:29421779 PMID:29467429 PMID:30214781 PMID:30554218 PMID:30609409 PMID:30949462 PMID:30957593 PMID:31074291 PMID:31672123 PMID:33532864 PMID:33661986 PMID:33822926 PMID:35513889 PMID:35571017 PMID:35738466 More...
|
RGD:12910866 RGD:1601022 |
NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
|
|
G |
SHPK |
sedoheptulokinase |
|
ISO |
ClinVar Annotator: match by term: Cystinosin, defect of |
ClinVar |
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:25741868 PMID:27734949 More...
|
|
NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
|
|
G |
TAX1BP3 |
Tax1 binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis |
ClinVar |
PMID:24385851 |
|
NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
|
|
G |
TRPV1 |
transient receptor potential cation channel subfamily V member 1 |
|
ISO |
ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis |
ClinVar |
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27734949 More...
|
|
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
|
|
|
G |
ASPA |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
|
NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
|
|
G |
CTNS |
cystinosin, lysosomal cystine transporter |
|
ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
OMIM ClinVar |
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:10909858 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:20352457 PMID:21305353 PMID:21546516 PMID:21786142 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:26655004 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28465352 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29467429 PMID:30214781 PMID:30554218 PMID:30849045 PMID:30949462 PMID:30957593 PMID:31074291 PMID:31672123 PMID:33532864 PMID:33661986 PMID:33822926 PMID:35571017 PMID:35738466 More...
|
|
NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
|
|
G |
SHPK |
sedoheptulokinase |
|
ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27102039 PMID:27734949 PMID:28492532 More...
|
|
NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
|
|
G |
TAX1BP3 |
Tax1 binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
|
NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
|
|
G |
TRPV1 |
transient receptor potential cation channel subfamily V member 1 |
|
ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27102039 PMID:27734949 PMID:28492532 More...
|
|
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
|
|
G |
TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
|
ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
|
NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
|
|
|
G |
ASPA |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
|
NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
|
|
G |
CTNS |
cystinosin, lysosomal cystine transporter |
|
ISO |
ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic |
OMIM ClinVar |
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:10909858 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:20352457 PMID:21305353 PMID:21546516 PMID:21786142 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:26655004 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28465352 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29467429 PMID:30214781 PMID:30554218 PMID:30849045 PMID:30949462 PMID:30957593 PMID:31074291 PMID:31672123 PMID:33532864 PMID:33661986 PMID:33822926 PMID:35571017 PMID:35738466 More...
|
|
NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
|
|
G |
SHPK |
sedoheptulokinase |
|
ISO |
ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic |
ClinVar |
PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27102039 PMID:27734949 PMID:28492532 More...
|
|
NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
|
|
G |
TAX1BP3 |
Tax1 binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
|
NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
|
|
G |
TRPV1 |
transient receptor potential cation channel subfamily V member 1 |
|
ISO |
ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic |
ClinVar |
PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27102039 PMID:27734949 PMID:28492532 More...
|
|
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
|
|
G |
TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
|
ISO |
ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
|
NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
|
|
|
G |
AKAP14 |
A-kinase anchoring protein 14 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:108,940,756...108,984,227
Ensembl chr X:119,355,712...119,380,449
|
|
G |
ATP1B4 |
ATPase Na+/K+ transporting family member beta 4 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:109,633,770...109,654,662
Ensembl chr X:119,820,695...119,841,598
|
|
G |
LAMP2 |
lysosomal associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy |
OMIM ClinVar |
PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16144992 PMID:16190986 PMID:16199547 PMID:16217705 PMID:16565504 PMID:17576681 PMID:17899313 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21070164 PMID:21415759 PMID:21520333 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:23955649 PMID:24033266 PMID:24503780 PMID:24691104 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25525159 PMID:25611685 PMID:25640679 PMID:25741868 PMID:25826782 PMID:26748608 PMID:27179547 PMID:27460667 PMID:27532257 PMID:27600940 PMID:27678261 PMID:27816333 PMID:28255936 PMID:28491796 PMID:28492532 PMID:28771489 PMID:28822614 PMID:28874292 PMID:29753918 PMID:29875424 PMID:29915097 PMID:29961767 PMID:30019023 PMID:30108015 PMID:30847666 PMID:30984009 PMID:31464081 PMID:31638414 PMID:31729179 PMID:33226119 PMID:33495597 PMID:34906502 More...
|
|
NCBI chr X:109,700,185...109,743,579
Ensembl chr X:119,886,982...119,929,896
|
|
G |
NDUFA1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:108,935,315...108,940,237
Ensembl chr X:119,330,105...119,334,963
|
|
G |
NKAP |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:108,988,561...109,006,946
Ensembl chr X:119,384,655...119,402,775
|
|
G |
RHOXF1 |
Rhox homeobox family member 1 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:109,253,343...109,261,513
|
|
G |
RHOXF2 |
Rhox homeobox family member 2 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:109,284,526...109,303,442
|
|
G |
RNF113A |
ring finger protein 113A |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:108,934,081...108,935,376
Ensembl chr X:119,328,911...119,329,942
|
|
G |
TMEM255A |
transmembrane protein 255A |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:109,530,719...109,583,320
Ensembl chr X:119,718,047...119,770,580
|
|
G |
UPF3B |
UPF3B regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:108,897,140...108,916,620
Ensembl chr X:119,292,231...119,311,632
|
|
G |
ZBTB33 |
zinc finger and BTB domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:109,521,333...109,530,467
Ensembl chr X:119,712,818...119,714,836
|
|
|
G |
ACE |
angiotensin I converting enzyme |
treatment |
ISO |
|
RGD |
PMID:20941593 |
RGD:12879402 |
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
|
|
G |
AGT |
angiotensinogen |
severity |
ISO |
DNA:polymorphism:promoter: |
RGD |
PMID:24020479 |
RGD:13432161 |
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
|
|
G |
AR |
androgen receptor |
treatment |
ISO |
|
RGD |
PMID:25701874 |
RGD:11576234 |
NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
|
|
G |
BTK |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
|
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
|
|
G |
DRP2 |
dystrophin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
|
NCBI chr X:90,422,483...90,467,610
Ensembl chr X:100,558,208...100,603,233
|
|
G |
GLA |
galactosidase alpha |
|
ISO |
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease |
OMIM ClinVar |
PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1677356 PMID:1753437 PMID:1846223 PMID:2152885 PMID:2160973 PMID:2171331 PMID:2393552 PMID:2539398 PMID:2744760 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7599642 PMID:7759078 PMID:7911050 PMID:7951217 PMID:8012363 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8768754 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9268104 PMID:9395081 PMID:9452068 PMID:9452090 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9620884 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10360396 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11145098 PMID:11179018 PMID:11295840 PMID:11322659 PMID:11531969 PMID:11531972 PMID:11668641 PMID:11688386 PMID:11804208 PMID:11828341 PMID:11889412 PMID:11914245 PMID:12068026 PMID:12175777 PMID:12207598 PMID:12359124 PMID:12428061 PMID:12429061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15086478 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15353880 PMID:15492942 PMID:15611419 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15861341 PMID:15924232 PMID:15947062 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16224739 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16626582 PMID:16720462 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17437606 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18003767 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18154966 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18472290 PMID:18555667 PMID:18560446 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18784903 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19265719 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19373884 PMID:19387866 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:20864368 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21305660 PMID:21333496 PMID:21353612 PMID:21420783 PMID:21517827 PMID:21549080 PMID:21587323 PMID:21598360 PMID:21683120 PMID:21700093 PMID:21804088 PMID:21890869 PMID:21896204 PMID:21946453 PMID:21972175 PMID:22004918 PMID:22063097 PMID:22078290 PMID:22176145 PMID:22205110 PMID:22226368 PMID:22227322 PMID:22241068 PMID:22305854 PMID:22336178 PMID:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22498845 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22880956 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23210910 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430848 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23756194 PMID:23818648 PMID:23826564 PMID:23867994 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 PMID:24094560 PMID:24236025 PMID:24334114 PMID:24365053 PMID:24380807 PMID:24386359 PMID:24395922 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24626659 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:24830310 PMID:24980630 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25086909 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25487570 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25640679 PMID:25655062 PMID:25663229 PMID:25666440 PMID:25741868 PMID:25750198 PMID:25762495 PMID:25772321 PMID:25795794 PMID:25835592 PMID:25865499 PMID:25896551 PMID:25900714 PMID:25949379 PMID:25955246 PMID:25965380 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26070511 PMID:26083343 PMID:26179544 PMID:26238931 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26593248 PMID:26629990 PMID:26631895 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26869469 PMID:26880903 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:27531472 PMID:27532257 PMID:27554049 PMID:27560961 PMID:27576502 PMID:27585509 PMID:27595546 PMID:27629047 PMID:27657681 PMID:27773586 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27834756 PMID:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28069318 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28332257 PMID:28340691 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28382085 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28496025 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28717668 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28771489 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28892806 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29121657 PMID:29132836 PMID:29143201 PMID:29186537 PMID:29203563 PMID:29204651 PMID:29215092 PMID:29227985 PMID:29247119 PMID:29305833 PMID:29307789 PMID:29326878 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29688998 PMID:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30085001 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30246259 PMID:30261035 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30497360 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30731207 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30834538 PMID:30853972 PMID:30890379 PMID:30902821 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31028938 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31243236 PMID:31291414 PMID:31319156 PMID:31321922 PMID:31367522 PMID:31372342 PMID:31392112 PMID:31446751 PMID:31449323 PMID:31519519 PMID:31566927 PMID:31613176 PMID:31620600 PMID:31634893 PMID:31649303 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31798221 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32127409 PMID:32150461 PMID:32161151 PMID:32198894 PMID:32203225 PMID:32246049 PMID:32246457 PMID:32281532 PMID:32306159 PMID:32418857 PMID:32432376 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32583479 PMID:32699723 PMID:32714835 PMID:32719972 PMID:32789421 PMID:32793709 PMID:32797665 PMID:32802993 PMID:32813676 PMID:32843101 PMID:32860008 PMID:32901917 PMID:32963035 PMID:32995357 PMID:33016649 PMID:33022387 PMID:33036343 PMID:33040545 PMID:33072983 PMID:33073010 PMID:33163363 PMID:33179747 PMID:33204599 PMID:33301762 PMID:33335842 PMID:33437642 PMID:33495303 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33617311 PMID:33673806 PMID:33712733 PMID:33807900 PMID:33835496 PMID:33907643 PMID:34199132 PMID:34205365 PMID:34270679 PMID:34401344 PMID:34545322 PMID:34679477 PMID:34803097 PMID:34905550 PMID:35035949 PMID:35548424 PMID:35743592 PMID:35743707 PMID:35870541 PMID:35971858 PMID:35977816 PMID:36013057 PMID:36087038 PMID:36140787 PMID:36156392 PMID:36292965 PMID:36564230 PMID:36745055 PMID:37205992 PMID:37480128 PMID:38002959 More...
|
|
NCBI chr X:90,600,412...90,610,594
Ensembl chr X:100,732,311...100,742,280
|
|
G |
HNRNPH2 |
heterogeneous nuclear ribonucleoprotein H2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 PMID:18205205 PMID:20022777 PMID:21598360 PMID:21683120 PMID:23691425 PMID:23913314 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25026990 PMID:25040344 PMID:25382311 PMID:25596309 PMID:25741868 PMID:26563328 PMID:27831900 PMID:27979989 PMID:28492532 PMID:30386727 PMID:30594474 PMID:33204599 PMID:34803097 More...
|
|
NCBI chr X:90,610,742...90,616,726
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:17353161 |
RGD:6907117 |
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
|
|
G |
MYLK2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:28492532 |
|
NCBI chr20:28,113,024...28,128,142
Ensembl chr20:29,243,391...29,258,508
|
|
G |
RPL36A |
ribosomal protein L36a |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
|
NCBI chr X:90,593,495...90,598,380
Ensembl chr X:100,725,528...100,730,505
|
|
G |
TAF7L |
TATA-box binding protein associated factor 7 like |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
|
NCBI chr X:90,471,354...90,496,618
Ensembl chr X:100,607,488...100,631,301
|
|
G |
TIMM8A |
translocase of inner mitochondrial membrane 8A |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
|
NCBI chr X:90,548,212...90,551,534
Ensembl chr X:100,680,224...100,683,544
|
|
G |
VDR |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNPs,haplotype: : |
RGD |
PMID:18278558 |
RGD:13432071 |
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
|
|
|
G |
GLA |
galactosidase alpha |
|
ISO |
ClinVar Annotator: match by term: Fabry disease, cardiac variant |
ClinVar |
PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 PMID:16773563 PMID:17532296 PMID:17555407 PMID:19287194 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:24980630 PMID:25382311 PMID:25611685 PMID:25741868 PMID:26869469 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27585509 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:28728877 PMID:29204651 PMID:29215092 PMID:29875425 PMID:30380558 PMID:30386727 PMID:30662066 PMID:30731207 PMID:30804731 PMID:30890379 PMID:31028938 PMID:31200018 PMID:31519519 PMID:31798221 PMID:32099817 PMID:32246049 PMID:35743592 PMID:36013057 More...
|
|
NCBI chr X:90,600,412...90,610,594
Ensembl chr X:100,732,311...100,742,280
|
|
|
G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency |
OMIM ClinVar |
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 PMID:11241842 PMID:12638942 PMID:16199547 PMID:16951918 PMID:17576681 PMID:20560208 PMID:21893389 PMID:22565078 PMID:23681708 PMID:23707712 PMID:24033266 PMID:24164096 PMID:24355074 PMID:24614645 PMID:25741868 PMID:25847462 PMID:26075876 PMID:26467025 PMID:26526000 PMID:26945816 PMID:27411168 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29140481 PMID:29358611 PMID:29379059 PMID:29692406 PMID:30525581 PMID:30815900 PMID:31680123 PMID:32449975 PMID:32627310 PMID:32706452 PMID:32875576 PMID:34240417 More...
|
|
NCBI chr 8:17,272,632...17,300,902
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10428046 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
|
G |
SLC17A5 |
solute carrier family 17 member 5 |
|
ISO |
ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) |
ClinVar |
PMID:2010546 PMID:2334213 PMID:10069709 PMID:10546100 PMID:10581036 PMID:10947946 PMID:11992753 PMID:12121352 PMID:12359136 PMID:12709150 PMID:12794687 PMID:12794688 PMID:15172001 PMID:15510212 PMID:15516337 PMID:15805149 PMID:16170568 PMID:16199547 PMID:18399798 PMID:18695252 PMID:19557856 PMID:20301643 PMID:21781115 PMID:24767253 PMID:24993898 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28662915 PMID:29140481 PMID:31130284 PMID:34979677 PMID:35322241 More...
|
|
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
|
|
|
G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Sialuria, French type |
ClinVar |
PMID:9536098 PMID:11528398 PMID:12497639 PMID:12743242 PMID:14972325 PMID:16810679 PMID:17576681 PMID:18555875 PMID:20059379 PMID:20175955 PMID:20301439 PMID:21294420 PMID:21708040 PMID:22196754 PMID:23437777 PMID:23806237 PMID:24005727 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25123033 PMID:25182749 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 More...
|
|
NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
|
|
|
G |
DCX |
doublecortin |
|
ISO |
ClinVar Annotator: match by term: Fucosidosis |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
|
|
G |
FUCA1 |
alpha-L-fucosidase 1 |
|
ISO |
ClinVar Annotator: match by term: FUCA1-related condition | ClinVar Annotator: match by term: Fucosidosis |
OMIM ClinVar |
PMID:1214294 PMID:1281988 PMID:2012122 PMID:2642067 PMID:7581404 PMID:7815431 PMID:8097260 PMID:8401503 PMID:8504303 PMID:8739734 PMID:9039984 PMID:9536098 PMID:9762612 PMID:10094192 PMID:10496076 PMID:12408193 PMID:16199547 PMID:17427030 PMID:17576681 PMID:23210910 PMID:24033266 PMID:24767253 PMID:25640679 PMID:25741868 PMID:26515723 PMID:27706744 PMID:28097321 PMID:28492532 PMID:30109123 PMID:31064022 PMID:31618753 PMID:31980526 PMID:33266441 PMID:36082656 More...
|
|
NCBI chr 1:23,039,126...23,060,514
Ensembl chr 1:24,022,967...24,043,850
|
|
|
G |
CTSA |
cathepsin A |
|
ISO |
ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile |
OMIM ClinVar |
PMID:1756715 PMID:2148053 PMID:3149149 PMID:8514852 PMID:8968752 PMID:9536098 PMID:9603439 PMID:10333491 PMID:10571006 PMID:10944848 PMID:12649068 PMID:15110321 PMID:16199547 PMID:16538002 PMID:17576681 PMID:18396002 PMID:18937050 PMID:19763152 PMID:20307669 PMID:22386972 PMID:22406018 PMID:23806086 PMID:23915561 PMID:24033266 PMID:24088042 PMID:24767253 PMID:24769197 PMID:24779613 PMID:25075748 PMID:25741868 PMID:26036949 PMID:26259553 PMID:27664989 PMID:27848944 PMID:28334938 PMID:28454995 PMID:28492532 PMID:28603679 PMID:28702507 PMID:29333829 PMID:29876240 PMID:31044084 PMID:32036093 PMID:32774297 More...
|
|
NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
|
|
G |
NEURL2 |
neuralized E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase |
ClinVar |
|
|
NCBI chr20:42,227,450...42,230,096
Ensembl chr20:43,314,207...43,316,944
|
|
G |
PLTP |
phospholipid transfer protein |
|
ISO |
ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase |
ClinVar |
|
|
NCBI chr20:42,237,434...42,251,189
Ensembl chr20:43,324,609...43,337,999
|
|
G |
SPATA25 |
spermatogenesis associated 25 |
|
ISO |
ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase |
ClinVar |
|
|
NCBI chr20:42,224,930...42,227,521
Ensembl chr20:43,312,075...43,313,639
|
|
|
G |
ACE |
angiotensin I converting enzyme |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12359135 |
|
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
|
|
G |
CHIT1 |
chitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17464953 |
|
NCBI chr 1:178,816,396...178,875,895
|
|
G |
ELP1 |
elongator acetyltransferase complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease |
ClinVar |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7500895 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8547070 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8829663 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10206680 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11406344 PMID:11600137 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12000368 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12667990 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14509164 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15352589 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15916907 PMID:15943874 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16199547 PMID:16293621 PMID:16326120 PMID:16329099 PMID:16546416 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17803231 PMID:17875915 PMID:18022370 PMID:18030725 PMID:18078074 PMID:18160183 PMID:18160322 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19433656 PMID:19433657 PMID:19459886 PMID:19513999 PMID:19527940 PMID:19790257 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20005137 PMID:20301446 PMID:20425034 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21796727 PMID:21823541 PMID:21831682 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22118943 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22247978 PMID:22344629 PMID:22350617 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 PMID:22812582 PMID:22884962 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23035075 PMID:23056756 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23430949 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:23935976 PMID:23936319 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24313877 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25356393 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25637381 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26008600 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26296077 PMID:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26792850 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27007895 PMID:27008195 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27334896 PMID:27393345 PMID:27397011 PMID:27571329 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27790088 PMID:27802905 PMID:27816428 PMID:27825739 PMID:27836528 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27896091 PMID:27922757 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28580830 PMID:28686011 PMID:28727984 PMID:28749476 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28944235 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29656334 PMID:29685539 PMID:29784561 PMID:29842932 PMID:29934114 PMID:29948939 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30461613 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30573413 PMID:30606667 PMID:30609409 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30777654 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31662221 PMID:31799121 PMID:31816052 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32404250 PMID:32547927 PMID:32613234 PMID:32618053 PMID:32623306 PMID:32658388 PMID:32677286 PMID:32702516 PMID:32707456 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33277783 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33420335 PMID:33473340 PMID:33547828 PMID:33570220 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34072005 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34280392 PMID:34282371 PMID:34426522 PMID:34440436 PMID:34450264 PMID:34586679 PMID:34649574 PMID:34867278 PMID:34930372 PMID:35262230 PMID:35639160 PMID:84325327 More...
|
|
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
|
|
G |
IL4 |
interleukin 4 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:21223590 |
RGD:5128511 |
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
|
|
G |
MSH6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency |
ClinVar |
PMID:22493294 |
|
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
|
|
G |
PKLR |
pyruvate kinase L/R |
|
ISO |
DNA:repeats:intron:IVS11+?(ATT)5 (human) |
RGD |
PMID:9677056 |
RGD:11535995 |
NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:6,521,812...6,526,349
|
|
G |
SNCA |
synuclein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19576930 |
|
NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
|
|
G |
TNF |
tumor necrosis factor |
severity |
ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:15919211 |
RGD:12904037 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
TTN |
titin |
|
ISO |
ClinVar Annotator: match by term: GBA DEFICIENCY |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:65,783,512...66,064,618
|
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal |
ClinVar OMIM |
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10352942 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15214004 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16293621 PMID:16546416 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19459886 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20005137 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22375149 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
|
|
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
|
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease type I |
ClinVar OMIM |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10340647 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11406344 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15352589 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15943874 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16199547 PMID:16293621 PMID:16329099 PMID:16546416 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18030725 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19459886 PMID:19513999 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20005137 PMID:20301446 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21823541 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22234757 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22493294 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 PMID:22812582 PMID:22961873 PMID:22964618 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23056756 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23508695 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:23935976 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24313877 PMID:24434810 PMID:24482953 PMID:24513544 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26008600 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26792850 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008195 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27816428 PMID:27825739 PMID:27836528 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27896091 PMID:27922757 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28580830 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30461613 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31816052 PMID:31943857 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32547927 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32702516 PMID:32707456 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:34280392 PMID:34426522 PMID:34649574 PMID:34930372 PMID:84325327 More...
|
|
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
|
|
G |
MSH6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile |
ClinVar |
PMID:22493294 |
|
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
|
|
G |
TTN |
titin |
|
ISO |
ClinVar Annotator: match by term: GD I |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:65,783,512...66,064,618
|
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type |
ClinVar OMIM |
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24756352 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26689913 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34426522 PMID:34649574 More...
|
|
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
|
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type |
ClinVar OMIM |
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8929950 PMID:9040001 PMID:9279145 PMID:9375849 PMID:9554746 PMID:9556036 PMID:9650766 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20301446 PMID:20432762 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22387070 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26709268 PMID:26743617 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
|
|
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
|
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
ClinVar OMIM |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12482401 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16061944 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
|
|
NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
|
|
|
G |
CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease, type II |
ClinVar |
PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
|
|
G |
GAA |
alpha glucosidase |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II |
OMIM ClinVar |
PMID:1109266 PMID:1652892 PMID:1856189 PMID:1862843 PMID:1895140 PMID:1898413 PMID:2111708 PMID:2203258 PMID:2252923 PMID:2510307 PMID:3049072 PMID:5614309 PMID:7603530 PMID:7668832 PMID:7695647 PMID:7717400 PMID:7866409 PMID:7881422 PMID:7881425 PMID:7945303 PMID:7981676 PMID:8094613 PMID:8401535 PMID:8429042 PMID:8435067 PMID:8558570 PMID:8604985 PMID:8834250 PMID:8912788 PMID:8935410 PMID:8990003 PMID:9196050 PMID:9259196 PMID:9266392 PMID:9425285 PMID:9521422 PMID:9529346 PMID:9535769 PMID:9536098 PMID:9554747 PMID:9660056 PMID:9950376 PMID:10189220 PMID:10206684 PMID:10338092 PMID:10377006 PMID:10528311 PMID:10737124 PMID:11053688 PMID:11071489 PMID:11343339 PMID:11738358 PMID:11854846 PMID:11854868 PMID:11927738 PMID:11949932 PMID:12213618 PMID:12601120 PMID:12897283 PMID:12923862 PMID:14643388 PMID:14695532 PMID:14972326 PMID:15048888 PMID:15121988 PMID:15145338 PMID:15366815 PMID:15501829 PMID:15668445 PMID:15986226 PMID:16133732 PMID:16199547 PMID:16433701 PMID:16478160 PMID:16531044 PMID:16580018 PMID:16702877 PMID:16782080 PMID:16838077 PMID:16857770 PMID:16860134 PMID:16865695 PMID:16917947 PMID:17027861 PMID:17041744 PMID:17056254 PMID:17092519 PMID:17095274 PMID:17151339 PMID:17210890 PMID:17213836 PMID:17573812 PMID:17576681 PMID:17616415 PMID:17643989 PMID:17723315 PMID:17805474 PMID:17915575 PMID:18211760 PMID:18285536 PMID:18301443 PMID:18414213 PMID:18425781 PMID:18429042 PMID:18434155 PMID:18458862 PMID:18495398 PMID:18505979 PMID:18535739 PMID:18607768 PMID:18757064 PMID:18995995 PMID:19067231 PMID:19206169 PMID:19343043 PMID:19472353 PMID:19588081 PMID:19609281 PMID:19775921 PMID:19790257 PMID:19862843 PMID:19948615 PMID:19966354 PMID:20033296 PMID:20080426 PMID:20202878 PMID:20301438 PMID:20308911 PMID:20350966 PMID:20437613 PMID:20464284 PMID:20472203 PMID:20559845 PMID:20638881 PMID:20817528 PMID:20821053 PMID:20826098 PMID:20830524 PMID:21039225 PMID:21109266 PMID:21179066 PMID:21216089 PMID:21228398 PMID:21232767 PMID:21439876 PMID:21471980 PMID:21484825 PMID:21488246 PMID:21488291 PMID:21488292 PMID:21550241 PMID:21605996 PMID:21637107 PMID:21644219 PMID:21676566 PMID:21687968 PMID:21704464 PMID:21757382 PMID:21803581 PMID:21889385 PMID:21920843 PMID:21926084 PMID:21940687 PMID:21967859 PMID:21972175 PMID:21982629 PMID:21984055 PMID:22002441 PMID:22027144 PMID:22081099 PMID:22133539 PMID:22185990 PMID:22194990 PMID:22196155 PMID:22237443 PMID:22252923 PMID:22253258 PMID:22365055 PMID:22521436 PMID:22538254 PMID:22555271 PMID:22595200 PMID:22613277 PMID:22644586 PMID:22658377 PMID:22676651 PMID:22704482 PMID:22711147 PMID:22791670 PMID:22958975 PMID:22975760 PMID:22980766 PMID:22990675 PMID:23000108 PMID:23013746 PMID:23062590 PMID:23146291 PMID:23147228 PMID:23160972 PMID:23266370 PMID:23350563 PMID:23402890 PMID:23417379 PMID:23418865 PMID:23430493 PMID:23430500 PMID:23430560 PMID:23430847 PMID:23430912 PMID:23430949 PMID:23463700 PMID:23566438 PMID:23601496 PMID:23632029 PMID:23632174 PMID:23668440 PMID:23757202 PMID:23787031 PMID:23825616 PMID:23843830 PMID:23884227 PMID:24008051 PMID:24008937 PMID:24011652 PMID:24016645 PMID:24027232 PMID:24033266 PMID:24107549 PMID:24150945 PMID:24158270 PMID:24169249 PMID:24190153 PMID:24215330 PMID:24245577 PMID:24269976 PMID:24273659 PMID:24337590 PMID:24338761 PMID:24383498 PMID:24384324 PMID:24395639 PMID:24399866 PMID:24444888 PMID:24495340 PMID:24510945 PMID:24513544 PMID:24590251 PMID:24627108 PMID:24715333 PMID:24844452 PMID:24872213 PMID:24923245 PMID:24976573 PMID:25026126 PMID:25036864 PMID:25037089 PMID:25052852 PMID:25093132 PMID:25103075 PMID:25139343 PMID:25155446 PMID:25213570 PMID:25243733 PMID:25326635 PMID:25356970 PMID:25388776 PMID:25396301 PMID:25409744 PMID:25444528 PMID:25451853 PMID:25455803 PMID:25466677 PMID:25488666 PMID:25525159 PMID:25526786 PMID:25544546 PMID:25612604 PMID:25614309 PMID:25626711 PMID:25673129 PMID:25681614 PMID:25687148 PMID:25687635 PMID:25703594 PMID:25712382 PMID:25741864 PMID:25741868 PMID:25752415 PMID:25758767 PMID:25783438 PMID:25786784 PMID:25846667 PMID:25973016 PMID:25998610 PMID:26031770 PMID:26160551 PMID:26167453 PMID:26199952 PMID:26231297 PMID:26253708 PMID:26310554 PMID:26349193 PMID:26350092 PMID:26467025 PMID:26497565 PMID:26572913 PMID:26575883 PMID:26594346 PMID:26693141 PMID:26800218 PMID:26830551 PMID:26873529 PMID:26913919 PMID:26946079 PMID:27008195 PMID:27099502 PMID:27142047 PMID:27170567 PMID:27183828 PMID:27189384 PMID:27238910 PMID:27344650 PMID:27363342 PMID:27417441 PMID:27460347 PMID:27623443 PMID:27629047 PMID:27649523 PMID:27666774 PMID:27692865 PMID:27708273 PMID:27711114 PMID:27858635 PMID:27896092 PMID:27927596 PMID:28032299 PMID:28182897 PMID:28196920 PMID:28394184 PMID:28433475 PMID:28450385 PMID:28490439 PMID:28492532 PMID:28554557 PMID:28592009 PMID:28600779 PMID:28624228 PMID:28648663 PMID:28657663 PMID:28694071 PMID:28725570 PMID:28763149 PMID:28814660 PMID:28838325 PMID:28900456 PMID:28951071 PMID:28957316 PMID:29044175 PMID:29046207 PMID:29061980 PMID:29122469 PMID:29124014 PMID:29143201 PMID:29149851 PMID:29181627 PMID:29205646 PMID:29289479 PMID:29315315 PMID:29325298 PMID:29326002 PMID:29390460 PMID:29422078 PMID:29428273 PMID:29451150 PMID:29523196 PMID:29556838 PMID:29573408 PMID:29637184 PMID:29653542 PMID:29869463 PMID:29880332 PMID:29889338 PMID:29946513 PMID:30022036 PMID:30023291 PMID:30049495 PMID:30076350 PMID:30093193 PMID:30105547 PMID:30155607 PMID:30214072 PMID:30275481 PMID:30281819 PMID:30293248 PMID:30314719 PMID:30360039 PMID:30371346 PMID:30414707 PMID:30442156 PMID:30510819 PMID:30564623 PMID:30655185 PMID:30711607 PMID:30737479 PMID:30778879 PMID:30827497 PMID:30897595 PMID:30943998 PMID:31057599 PMID:31076647 PMID:31086307 PMID:31130284 PMID:31193175 PMID:31228295 PMID:31254424 PMID:31301153 PMID:31342611 PMID:31392188 PMID:31392193 PMID:31395954 PMID:31439017 PMID:31467850 PMID:31510962 PMID:31589614 PMID:31606152 PMID:31619483 PMID:31637888 PMID:31676142 PMID:31710733 PMID:31729605 PMID:31743840 PMID:31847883 PMID:31875618 PMID:31899940 PMID:31904026 PMID:31915562 PMID:31931849 PMID:31953985 PMID:31965297 PMID:31980526 PMID:32012848 PMID:32014045 PMID:32064362 PMID:32071926 PMID:32125626 PMID:32126021 PMID:32248831 PMID:32317649 PMID:32373469 PMID:32504392 PMID:32518148 PMID:32528171 PMID:32711049 PMID:32721234 PMID:32802993 PMID:32821428 PMID:32860008 PMID:32888769 PMID:33013846 PMID:33073003 PMID:33073007 PMID:33073009 PMID:33073027 PMID:33168984 PMID:33202836 PMID:33250842 PMID:33301762 PMID:33393119 PMID:33552729 PMID:33560568 PMID:33673364 PMID:33717985 PMID:33741225 PMID:33972680 PMID:33996274 PMID:34020684 PMID:34220802 PMID:34426522 PMID:34501319 PMID:34530085 PMID:34539730 PMID:34602496 PMID:34639227 PMID:34647686 PMID:34852371 PMID:34864681 PMID:34906502 PMID:34995642 PMID:35123877 PMID:35532199 PMID:36246652 PMID:36310651 PMID:37087815 More...
|
|
NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
|
|
G |
LOC100988043 |
eukaryotic initiation factor 4A-III |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease, type II |
ClinVar |
PMID:28492532 |
|
NCBI chr17:74,221,793...74,233,738
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease, type II |
ClinVar |
PMID:15016963 PMID:21266528 PMID:23334666 |
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
TNNT2 |
troponin T2, cardiac type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26787432 |
|
NCBI chr 1:176,957,298...176,976,033
|
|
|
G |
CHPT1 |
choline phosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy |
ClinVar |
PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 PMID:27662472 PMID:28492532 More...
|
|
NCBI chr12:99,278,842...99,311,790
Ensembl chr12:102,692,554...102,711,745
|
|
G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis |
ClinVar |
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:32651481 PMID:34426522 PMID:34440436 PMID:34645491 More...
|
|
NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
|
|
G |
GNPTG |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
mucolipidosis IIIC/variant pseudo-hurler polydystrophy |
RGD |
PMID:10712439 |
RGD:1599045 |
Ensembl chr16:1,407,385...1,418,523
|
|
G |
MCOLN1 |
mucolipin TRP cation channel 1 |
|
ISO |
|
RGD |
PMID:10973263 |
RGD:1599926 |
NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
|
|
G |
NEU1 |
neuraminidase 1 |
|
ISO |
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis |
ClinVar |
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:29018767 PMID:29414417 PMID:30023283 PMID:30548430 PMID:30941624 PMID:31711734 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34992946 PMID:35036219 More...
|
|
NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
|
|
|
G |
GLB1 |
galactosidase beta 1 |
treatment |
ISO |
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis |
RGD ClinVar |
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17664528 PMID:18524657 PMID:19472408 PMID:20175788 PMID:20409738 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:25964428 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29352662 PMID:29396849 PMID:29439846 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30555092 PMID:30809705 PMID:31367523 PMID:31761138 PMID:31776384 PMID:33083013 PMID:33240792 PMID:33737400 PMID:34426522 PMID:35614200 More...
|
RGD:11086251 |
NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
|
|
G |
TMPPE |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis |
ClinVar |
PMID:16941474 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:33,024,623...33,031,877
|
|
|
G |
GLB1 |
galactosidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis |
OMIM ClinVar |
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24767253 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26646981 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30809705 PMID:31761138 PMID:31776384 PMID:32219518 PMID:33737400 PMID:36265282 More...
|
|
NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
|
|
G |
TMPPE |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 PMID:36265282 More...
|
|
NCBI chr 3:33,024,623...33,031,877
|
|
|
G |
GLB1 |
galactosidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 2 |
OMIM ClinVar |
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10744681 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17661814 PMID:17664528 PMID:18524657 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23757202 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24767253 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:27750150 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28577204 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:29451896 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30442161 PMID:30548430 PMID:30675867 PMID:30809705 PMID:31367523 PMID:31761138 PMID:31776384 PMID:32779865 PMID:33083013 PMID:33240792 PMID:33558080 PMID:33737400 PMID:34426522 PMID:35614200 PMID:35937492 PMID:36265282 More...
|
|
NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
|
|
G |
TMPPE |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 2 |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 PMID:36265282 More...
|
|
NCBI chr 3:33,024,623...33,031,877
|
|
|
G |
GLB1 |
galactosidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis |
OMIM ClinVar |
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15986423 PMID:16385454 PMID:16617000 PMID:16626397 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:19472408 PMID:19644515 PMID:20175788 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:23151865 PMID:23337983 PMID:23430499 PMID:24156116 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26646981 PMID:28492532 PMID:28554332 PMID:28716012 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30267299 PMID:31761138 PMID:31776384 More...
|
|
NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
|
|
G |
TMPPE |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: GM1 gangliosidosis type 3 |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 More...
|
|
NCBI chr 3:33,024,623...33,031,877
|
|
|
G |
GM2A |
ganglioside GM2 activator |
|
ISO |
Tay-Sachs Disease, AB Variant |
RGD |
PMID:10364519 |
RGD:1598993 |
NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset |
ClinVar |
PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 PMID:6236221 PMID:8328462 PMID:8343225 PMID:8490625 PMID:8757036 PMID:9090523 PMID:9536098 PMID:10852376 PMID:14724290 PMID:15714079 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22975760 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 PMID:31367523 More...
|
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
G |
SNCA |
synuclein alpha |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:12657883 |
RGD:6480199 |
NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
|
|
G |
SNCB |
synuclein beta |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:12657883 |
RGD:6480199 |
NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800
|
|
|
G |
GM2A |
ganglioside GM2 activator |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB |
OMIM ClinVar |
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 PMID:9536098 PMID:10364519 PMID:17576681 PMID:24767253 PMID:25558065 PMID:25741868 PMID:26082327 PMID:26203402 PMID:28417072 PMID:28492532 PMID:33456446 More...
|
|
NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB |
ClinVar |
PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 PMID:2824459 PMID:2848800 PMID:8230592 PMID:8352284 PMID:8488832 PMID:8490625 PMID:10571007 PMID:11463833 PMID:14727180 PMID:16088929 PMID:16352452 PMID:18358410 PMID:20301397 PMID:20672374 PMID:21228398 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23852624 PMID:24033266 PMID:24374108 PMID:24518553 PMID:24940364 PMID:25287655 PMID:25557439 PMID:25741868 PMID:27033294 PMID:27896118 PMID:27959697 PMID:28492532 PMID:28503624 PMID:33083013 More...
|
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
G |
SLC36A2 |
solute carrier family 36 member 2 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB |
ClinVar |
PMID:28492532 |
|
Ensembl chr 5:152,744,831...152,775,431
|
|
G |
SLC36A3 |
solute carrier family 36 member 3 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:146,703,628...146,774,744
Ensembl chr 5:152,704,142...152,731,899
|
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset |
ClinVar |
PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 PMID:6236221 PMID:8328462 PMID:8343225 PMID:8490625 PMID:9536098 PMID:10852376 PMID:14566483 PMID:14577003 PMID:15714079 PMID:16088929 PMID:17015493 PMID:17237499 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22789865 PMID:22975760 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 More...
|
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 |
ClinVar |
PMID:1532289 |
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
|
G |
APOE |
apolipoprotein E |
|
ISO |
ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis |
ClinVar |
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
|
|
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
|
|
|
G |
CLCN7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31155284 |
|
NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
|
|
|
G |
CTNS |
cystinosin, lysosomal cystine transporter |
|
ISO |
ClinVar Annotator: match by term: Infantile nephropathic cystinosis |
ClinVar |
PMID:9537412 PMID:9792862 PMID:10556299 PMID:11562417 PMID:12204010 PMID:12442267 PMID:19863563 PMID:21786142 PMID:22450360 PMID:25326109 PMID:25741868 PMID:27102039 PMID:28276207 PMID:28492532 PMID:33532864 PMID:35738466 More...
|
|
NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
|
|
|
G |
SLC17A5 |
solute carrier family 17 member 5 |
|
ISO |
ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE |
OMIM ClinVar |
PMID:2010546 PMID:2334213 PMID:7151835 PMID:7573152 PMID:10069709 PMID:10546100 PMID:10581036 PMID:10947946 PMID:11992753 PMID:12121352 PMID:12359136 PMID:12709150 PMID:12794687 PMID:12794688 PMID:15172001 PMID:15510212 PMID:15516337 PMID:15805149 PMID:16170568 PMID:16199547 PMID:18399798 PMID:18695252 PMID:19557856 PMID:20301643 PMID:21781115 PMID:24767253 PMID:24993898 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28662915 PMID:29140481 PMID:31130284 PMID:34979677 PMID:35322241 More...
|
|
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
|
|
|
G |
NAGA |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 |
OMIM ClinVar |
PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2564952 PMID:2889023 PMID:7707696 PMID:8040340 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 PMID:14685826 PMID:15619430 PMID:16199547 PMID:17171432 PMID:18414213 PMID:19683538 PMID:23045655 PMID:24033266 PMID:24767253 PMID:25741868 PMID:27138754 PMID:28252636 PMID:28492532 PMID:29431110 PMID:30487145 PMID:31980526 PMID:32860008 PMID:34670123 More...
|
|
NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
|
|
G |
WBP2NL |
WBP2 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 |
ClinVar |
|
|
NCBI chr22:22,891,166...22,926,920
Ensembl chr22:40,974,715...41,004,007
|
|
|
G |
GALC |
galactosylceramidase |
|
ISO |
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell |
OMIM ClinVar |
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8399327 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:9536098 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16199547 PMID:16607461 PMID:16759875 PMID:17576681 PMID:17579360 PMID:17824908 PMID:18846620 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24388568 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25640679 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26223439 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27171547 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27617109 PMID:27638583 PMID:27638592 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28337550 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28855403 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30729410 PMID:30777126 PMID:31053700 PMID:31093932 PMID:31185936 PMID:31240153 PMID:31319225 PMID:31350907 PMID:31395954 PMID:31400137 PMID:31885218 PMID:32036093 PMID:32064984 PMID:32089546 PMID:32295525 PMID:32342562 PMID:32411386 PMID:32576985 PMID:32677356 PMID:32860008 PMID:32912261 PMID:32973651 PMID:33178108 PMID:33832819 PMID:34012265 PMID:34065072 PMID:34445196 PMID:34449528 PMID:35013804 PMID:35286032 PMID:35419325 PMID:35654103 PMID:36113749 More...
|
|
NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
|
|
G |
SPATA7 |
spermatogenesis associated 7 |
|
ISO |
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr14:69,002,723...69,056,185
Ensembl chr14:88,367,757...88,415,045
|
|
|
G |
AP1S1 |
adaptor related protein complex 1 subunit sigma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
|
NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316
|
|
G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
|
NCBI chr 8:17,272,632...17,300,902
|
|
G |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
|
NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
|
|
G |
DEPP1 |
DEPP autophagy regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
NCBI chr10:41,970,914...41,973,518
Ensembl chr10:45,151,636...45,152,280
|
|
G |
FABP1 |
fatty acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
|
NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
|
|
G |
FADS2 |
fatty acid desaturase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21123845 |
|
NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649
|
|
G |
FNDC4 |
fibronectin type III domain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
NCBI chr2A:27,494,396...27,497,747
Ensembl chr2A:27,583,044...27,585,288
|
|
G |
GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
Ensembl chr16:30,479,684...30,488,868
|
|
G |
HPN |
hepsin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
|
NCBI chr19:31,985,761...32,012,841
Ensembl chr19:40,725,319...40,750,628
|
|
G |
INHBE |
inhibin subunit beta E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
|
NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
|
|
G |
LSS |
lanosterol synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
|
NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
|
|
G |
NR0B2 |
nuclear receptor subfamily 0 group B member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942
|
|
G |
NUPR1 |
nuclear protein 1, transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17175557 |
|
Ensembl chr16:29,015,155...29,016,987
|
|
G |
PPARG |
peroxisome proliferator activated receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21123845 |
|
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
|
|
G |
SCD |
stearoyl-CoA desaturase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21123845 |
|
NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
|
|
G |
SERPINA3 |
serpin family A member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515
|
|
G |
SLC2A3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 |
|
NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466
|
|
G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
|
RGD |
PMID:17524234 |
RGD:2308821 |
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
|
|
G |
SREBF2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
|
RGD |
PMID:17524234 |
RGD:2308821 |
NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
|
|
G |
TAGLN |
transgelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
|
|
G |
WIPI1 |
WD repeat domain, phosphoinositide interacting 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15342952 PMID:16919414 PMID:17175557 |
|
NCBI chr17:62,357,952...62,394,620
Ensembl chr17:67,748,201...67,784,389
|
|
|
G |
LIPA |
lipase A, lysosomal acid type |
|
ISO |
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency |
ClinVar |
PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:18775687 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24033266 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25525159 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30270055 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:32041611 PMID:32382506 More...
|
|
NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
|
|
|
G |
ABCA1 |
ATP binding cassette subfamily A member 1 |
treatment |
ISO |
|
RGD |
PMID:29505790 |
RGD:19165131 |
NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
|
|
G |
ACACA |
acetyl-CoA carboxylase alpha |
treatment |
ISO |
|
RGD |
PMID:28458350 |
RGD:401799674 |
NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
|
|
G |
ACER3 |
alkaline ceramidase 3 |
disease_progression treatment |
ISO |
mRNA:increased expression:liver |
RGD |
PMID:31949129 |
RGD:35673324 |
NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
|
|
G |
ACTA2 |
actin alpha 2, smooth muscle |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:28100771 |
RGD:127285675 |
NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
|
|
G |
ADIPOR2 |
adiponectin receptor 2 |
susceptibility treatment |
ISO |
mRNA:decreased expression:liver (rat) associated with obesity associated with obesity;protein:decreased expression:liver (mouse) |
RGD |
PMID:18666257 PMID:19763702 PMID:20606728 PMID:20965162 PMID:30131158 |
RGD:21076282 RGD:25330094 RGD:25330095 RGD:25440494 RGD:25824942 |
NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
|
|
G |
ADRA2A |
adrenoceptor alpha 2A |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:30009772 |
RGD:401976534 |
NCBI chr10:107,669,860...107,673,685
|
|
G |
APOA1 |
apolipoprotein A1 |
treatment |
ISO |
human gene in mouse model mRNA, protein: increased expression:liver, serum (rat) |
RGD |
PMID:24793484 PMID:30187493 |
RGD:21408551 RGD:25671434 |
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:29307797 |
RGD:153297819 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
susceptibility |
ISO |
mRNA:increased expression:liver RNA:increased expression:liver: mRNA:increased expression:liver (rat) |
RGD |
PMID:20606728 PMID:24429361 PMID:30369082 |
RGD:14975280 RGD:14995462 RGD:21076282 |
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:27639593 |
RGD:14995335 |
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
|
|
G |
CLDN1 |
claudin 1 |
|
ISO |
mRNA:increased expression:distal colon (rat) |
RGD |
PMID:31189495 |
RGD:26884351 |
NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
|
|
G |
COL1A1 |
collagen type I alpha 1 chain |
ameliorates |
ISO |
|
RGD |
PMID:28100771 |
RGD:127285675 |
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
|
|
G |
CPT1A |
carnitine palmitoyltransferase 1A |
treatment |
ISO |
|
RGD |
PMID:28458350 |
RGD:401799674 |
NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
|
|
G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
severity |
ISO |
mRNA,protein:increased expression:liver,serum |
RGD |
PMID:25048951 |
RGD:27095890 |
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
|
|
G |
CYP27A1 |
cytochrome P450 family 27 subfamily A member 1 |
|
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:28774887 |
RGD:15045601 |
NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
|
|
G |
CYP7A1 |
cytochrome P450 family 7 subfamily A member 1 |
treatment |
ISO |
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767 |
RGD |
PMID:28774887 PMID:30038487 |
RGD:15045601 RGD:15092090 |
NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037
|
|
G |
GPBAR1 |
G protein-coupled bile acid receptor 1 |
treatment |
ISO |
mRNA, protein:altered expression:liver (rat) treatment with INT-767 |
RGD |
PMID:30038487 |
RGD:15092090 |
NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
|
|
G |
HTR2B |
5-hydroxytryptamine receptor 2B |
|
ISO |
associated with morbid obesity;mRNA:decreased expression:liver |
RGD |
PMID:33081272 |
RGD:401900305 |
NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
ameliorates |
ISO |
|
RGD |
PMID:28415887 |
RGD:14985253 |
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
IFNG |
interferon gamma |
ameliorates |
ISO |
|
RGD |
PMID:28100771 |
RGD:127285675 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
DNA:SNP:promoter:-1082A>G (rs1800896) (human) |
RGD |
PMID:28852433 |
RGD:14975143 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
|
|
G |
IL1B |
interleukin 1 beta |
ameliorates |
ISO |
|
RGD |
PMID:28100771 |
RGD:127285675 |
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
|
|
G |
IL6 |
interleukin 6 |
ameliorates |
ISO |
DNA:SNP:promoter:-174G>C (human) |
RGD |
PMID:28100771 PMID:28852433 |
RGD:127285675 RGD:14975143 |
NCBI chr 7:23,415,922...23,420,767
|
|
G |
IRF5 |
interferon regulatory factor 5 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:27942586 |
RGD:40924562 |
NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
|
|
G |
JAK2 |
Janus kinase 2 |
ameliorates |
ISO |
|
RGD |
PMID:28100771 |
RGD:127285675 |
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
|
|
G |
KRT18 |
keratin 18 |
severity |
ISO |
protein:increased degradation:serum (human) protein:increased expression:serum (human) protein:increased degradation:plasma (human) protein:altered degradation:liver, serum (rat) associated with morbid obesity;protein:increased degradation:plasma (human) |
RGD MouseDO |
PMID:18995215 PMID:19333204 PMID:19585618 PMID:21993925 PMID:24071521 PMID:24630506 More...
|
RGD:18337489 RGD:18337490 RGD:18337493 RGD:18337495 RGD:18337499 RGD:27226810 |
NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
|
|
G |
LEPR |
leptin receptor |
susceptibility |
ISO |
DNA:SNPs: : (rs1137100, rs1137101) (human) |
RGD |
PMID:23278404 |
RGD:14696696 |
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
|
|
G |
LOC100971374 |
thioredoxin-interacting protein |
|
ISO |
|
RGD |
PMID:29482933 |
RGD:15090806 |
NCBI chr 1:90,007,878...90,012,055
|
|
G |
LOC100980965 |
zinc-alpha-2-glycoprotein |
treatment |
ISO |
associated with type 2 diabetes mellitus; |
RGD |
PMID:29608898 |
RGD:153352320 |
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
|
|
G |
MC4R |
melanocortin 4 receptor |
|
ISO |
|
MouseDO |
|
|
NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
|
|
G |
MCL1 |
MCL1 apoptosis regulator, BCL2 family member |
|
ISO |
|
RGD |
PMID:32015322 |
RGD:151356909 |
NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086
|
|
G |
MLXIPL |
MLX interacting protein like |
treatment |
ISO |
|
RGD |
PMID:28458350 |
RGD:401799674 |
Ensembl chr 7:80,745,765...80,776,153
|
|
G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
treatment |
ISO |
|
RGD |
PMID:25790822 |
RGD:150519907 |
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
|
RGD |
PMID:25385666 |
RGD:21201312 |
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
NFKB1 |
nuclear factor kappa B subunit 1 |
treatment |
ISO |
mRNA, protein:altered expression:liver (rat) treatment with INT-767 |
RGD |
PMID:30038487 |
RGD:15092090 |
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
|
|
G |
NOX4 |
NADPH oxidase 4 |
susceptibility |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:20606728 |
RGD:21076282 |
NCBI chr11:84,330,362...84,496,755
|
|
G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
treatment |
ISO |
mRNA, protein:altered expression:liver (rat) treatment with INT-767 mRNA:increased expression:liver (human) |
RGD |
PMID:28774887 PMID:30038487 |
RGD:15045601 RGD:15092090 |
NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
|
|
G |
PCK1 |
phosphoenolpyruvate carboxykinase 1 |
treatment |
ISO |
mRNA, protein:altered expression:liver (rat) treatment with INT-767 |
RGD |
PMID:30038487 |
RGD:15092090 |
NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920
|
|
G |
RIPK3 |
receptor interacting serine/threonine kinase 3 |
|
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:21425308 |
RGD:127229938 |
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
|
|
G |
SCD |
stearoyl-CoA desaturase |
treatment |
ISO |
|
RGD |
PMID:28458350 |
RGD:401799674 |
NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
|
|
G |
SERPINF1 |
serpin family F member 1 |
treatment |
ISO |
human gene in a mouse model protein:increased expression:serum (human) |
RGD |
PMID:26121037 PMID:28365916 |
RGD:27226700 RGD:27226705 |
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
|
|
G |
SMAD4 |
SMAD family member 4 |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:29696816 |
RGD:18937002 |
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
|
|
G |
SOD1 |
superoxide dismutase 1 |
susceptibility |
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:20606728 |
RGD:21076282 |
NCBI chr21:18,029,831...18,037,526
|
|
G |
SOD2 |
superoxide dismutase 2 |
susceptibility |
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:20606728 PMID:24649902 |
RGD:21076282 RGD:26923960 |
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
treatment |
ISO |
mRNA, protein:altered expression:liver (rat) treatment with INT-767 |
RGD |
PMID:28458350 PMID:30038487 |
RGD:15092090 RGD:401799674 |
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:29482933 |
RGD:15090806 |
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
|
|
G |
TNF |
tumor necrosis factor |
susceptibility |
ISO |
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (mouse) |
RGD |
PMID:20606728 PMID:28100771 |
RGD:127285675 RGD:21076282 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
UBD |
ubiquitin D |
|
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:30009772 |
RGD:401976534 |
NCBI chr 6:29,359,680...29,364,014
Ensembl chr 6:30,018,444...30,022,814
|
|
|
G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:22112382 |
RGD:11040992 |
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
|
|
G |
ABCB4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20040336 |
|
NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
|
|
G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
severity |
ISO |
DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18926681 PMID:29341352 |
RGD:14700775 |
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
|
|
G |
ABCC3 |
ATP binding cassette subfamily C member 3 |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:22112382 |
RGD:11040992 |
Ensembl chr17:49,603,268...49,659,318
|
|
G |
ABCG5 |
ATP binding cassette subfamily G member 5 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:23117815 PMID:25263431 |
RGD:15045604 RGD:15045610 |
NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012
|
|
G |
ABCG8 |
ATP binding cassette subfamily G member 8 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) mRNA:decreased expression:liver (rat) |
RGD |
PMID:23117815 PMID:25263431 |
RGD:15045604 RGD:15045610 |
NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830
|
|
G |
ACACA |
acetyl-CoA carboxylase alpha |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
|
|
G |
ACACB |
acetyl-CoA carboxylase beta |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
|
|
G |
ACADM |
acyl-CoA dehydrogenase medium chain |
treatment |
ISO |
|
RGD |
PMID:23076603 |
RGD:10047124 |
NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
|
|
G |
ACADVL |
acyl-CoA dehydrogenase very long chain |
treatment |
ISO |
|
RGD |
PMID:22569299 PMID:23076603 |
RGD:10047121 RGD:10047124 |
NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
|
|
G |
ACE |
angiotensin I converting enzyme |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
|
|
G |
ACO1 |
aconitase 1 |
|
ISO |
protein:increased activity:liver |
RGD |
PMID:23805238 |
RGD:11541090 |
NCBI chr 9:32,157,763...32,225,116
Ensembl chr 9:32,967,993...33,035,177
|
|
G |
ACTB |
actin beta |
|
ISO |
protein:increased carbonylation:liver |
RGD |
PMID:25282656 |
RGD:11541097 |
|
|
G |
ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
|
ISO |
mRNA, protein:increased expression, increased activity:liver, plasma (rat) |
RGD |
PMID:19652891 |
RGD:2315953 |
NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
|
|
G |
ADH1B |
alcohol dehydrogenase 1B (class I), beta polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
|
|
G |
ADH4 |
alcohol dehydrogenase 4 (class II), pi polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr 4:91,522,444...91,543,086
Ensembl chr 4:102,183,956...102,206,923
|
|
G |
ADIPOQ |
adiponectin, C1Q and collagen domain containing |
disease_progression susceptibility treatment |
ISO |
associated with obesity;protein:decreased expression:serum: associated with Obesity, Morbid; associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) DNA:hypermethylation |
RGD CTD |
PMID:15239085 PMID:18713296 PMID:19606393 PMID:20415685 PMID:21255792 PMID:22152320 PMID:22269154 PMID:26042596 PMID:27860427 More...
|
RGD:11076260 RGD:14401717 RGD:14401719 RGD:5685373 RGD:5686355 RGD:5686660 RGD:5686810 RGD:5686841 |
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
|
|
G |
ADIPOR2 |
adiponectin receptor 2 |
severity treatment susceptibility |
ISO |
mRNA:increased expression:liver (human) DNA:missense mutation:cds: (human) mRNA, protein:decreased expression:serum, liver (mouse) mRNA:increased expression:liver (rat) |
RGD |
PMID:17006986 PMID:19422483 PMID:25345946 PMID:25536648 PMID:26770322 PMID:29569260 More...
|
RGD:1599139 RGD:24922200 RGD:24922201 RGD:25330097 RGD:25440492 RGD:25824941 |
NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
|
|
G |
ADRB3 |
adrenoceptor beta 3 |
|
ISO |
DNA:missense mutation:cds:p.W64R (rs4994) (human) |
RGD |
PMID:15318095 |
RGD:5684892 |
NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
|
|
G |
AHCY |
adenosylhomocysteinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29127188 |
|
NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803
|
|
G |
AHR |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29416063 |
|
NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
|
|
G |
ALDH1A1 |
aldehyde dehydrogenase 1 family member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr 9:51,737,305...51,916,648
Ensembl chr 9:71,680,890...71,814,085
|
|
G |
ALDH1B1 |
aldehyde dehydrogenase 1 family member B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr 9:38,239,413...38,244,751
Ensembl chr 9:39,164,392...39,165,945
|
|
G |
ALDH1L2 |
aldehyde dehydrogenase 1 family member L2 |
|
ISO |
OMIM:613282 | OMIM:613387 |
MouseDO |
|
|
NCBI chr12:102,596,881...102,661,617
Ensembl chr12:105,997,045...106,056,607
|
|
G |
ALDH2 |
aldehyde dehydrogenase 2 family member |
susceptibility treatment |
ISO |
DNA:missense mutation:cds: (rs671) (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:25392542 PMID:27214654 PMID:29718361 PMID:31026768 |
RGD:11536476 RGD:15036808 RGD:15042863 |
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
|
|
G |
ALDH4A1 |
aldehyde dehydrogenase 4 family member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
|
|
G |
ALOX15 |
arachidonate 15-lipoxygenase |
|
ISO |
|
RGD |
PMID:20967760 |
RGD:5509622 |
NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
|
|
G |
APOA1 |
apolipoprotein A1 |
treatment |
ISO |
|
RGD |
PMID:26420354 |
RGD:25671437 |
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
|
|
G |
APOE |
apolipoprotein E |
|
ISO |
|
RGD |
PMID:21184788 |
RGD:6904141 |
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
|
|
G |
APOH |
apolipoprotein H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654975 |
|
NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
|
|
G |
ATG7 |
autophagy related 7 |
|
ISO |
ClinVar Annotator: match by term: NAFLD1 |
ClinVar |
PMID:25741868 PMID:35405176 |
|
NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
|
|
G |
ATP5F1A |
ATP synthase F1 subunit alpha |
|
ISO |
|
RGD |
PMID:25222487 |
RGD:13703054 |
NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
|
|
G |
ATP5F1B |
ATP synthase F1 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25666834 |
|
NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
|
|
G |
B3GAT1 |
beta-1,3-glucuronyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24211274 |
|
NCBI chr11:129,200,676...129,269,650
Ensembl chr11:133,089,603...133,117,492
|
|
G |
C1QC |
complement C1q C chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35789393 |
|
NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
|
|
G |
CAT |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:24927058 PMID:25813056 |
RGD:14995922 RGD:14995928 |
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
treatment disease_progression |
ISO |
|
RGD |
PMID:27639593 |
RGD:14995335 |
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:polymorphism: :190A>G(human) |
RGD |
PMID:26591766 |
RGD:14995492 |
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
|
|
G |
CD14 |
CD14 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20353583 |
|
NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
|
|
G |
CD163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:31027316 |
RGD:127345132 |
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
|
|
G |
CD36 |
CD36 molecule (CD36 blood group) |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:21216282 PMID:24280415 |
RGD:11041117 RGD:6893543 |
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
|
|
G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654975 |
|
NCBI chr2B:51,932,252...52,117,506
Ensembl chr2B:169,322,029...169,477,690
|
|
G |
COL1A1 |
collagen type I alpha 1 chain |
treatment |
ISO |
|
RGD |
PMID:17241878 PMID:23703580 |
RGD:2308807 RGD:8552713 |
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
|
|
G |
CPT1A |
carnitine palmitoyltransferase 1A |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29289645 PMID:31211621 |
RGD:14747028 |
NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
|
|
G |
CSF2 |
colony stimulating factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
|
|
G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
treatment |
ISO |
|
RGD |
PMID:28824718 |
RGD:27095887 |
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15706422 |
|
NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514
|
|
G |
CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27565560 |
|
NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
|
|
G |
CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
|
ISO |
protein:decreased expression:liver (mouse) |
RGD |
PMID:29710028 |
RGD:25671411 |
NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
|
|
G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:25317811 PMID:26428356 PMID:26703967 PMID:28458161 |
RGD:11573192 RGD:14700871 RGD:14700881 |
Ensembl chr10:134,839,025...134,852,719
|
|
G |
CYP8B1 |
cytochrome P450 family 8 subfamily B member 1 |
|
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:25263431 |
RGD:15045610 |
NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
|
|
G |
DGAT2 |
diacylglycerol O-acyltransferase 2 |
treatment |
ISO |
|
RGD |
PMID:17618857 PMID:24166662 PMID:26394137 |
RGD:10400900 RGD:10401056 RGD:329955565 |
NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
|
|
G |
EIF2AK1 |
eukaryotic translation initiation factor 2 alpha kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29289645 |
|
NCBI chr 7:7,382,669...7,418,469
Ensembl chr 7:6,222,187...6,256,252
|
|
G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
|
RGD |
PMID:24351808 |
RGD:9588320 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
|
|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22841818 |
|
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
|
|
G |
FAS |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23127599 |
|
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
|
|
G |
FASN |
fatty acid synthase |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
|
|
G |
FGF21 |
fibroblast growth factor 21 |
severity |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:26797127 PMID:29289645 PMID:32195457 |
RGD:25330354 |
NCBI chr19:45,755,466...45,758,472
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
severity |
ISO |
|
RGD |
PMID:32195457 |
RGD:25330354 |
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
|
|
G |
FOLR2 |
folate receptor beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30794826 |
|
NCBI chr11:67,295,305...67,300,463
Ensembl chr11:70,518,931...70,524,088
|
|
G |
FOXO1 |
forkhead box O1 |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:30186875 |
RGD:14401598 |
NCBI chr13:21,763,729...21,874,279
|
|
G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver |
CTD RGD |
PMID:23329013 PMID:35654975 |
RGD:329951008 |
NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
|
|
G |
G6PC1 |
glucose-6-phosphatase catalytic subunit 1 |
treatment |
ISO |
associated with type 2 diabetes mellitus |
RGD |
PMID:27840945 PMID:30100243 |
RGD:14695535 RGD:14695545 |
NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
|
|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
treatment |
ISO |
|
RGD |
PMID:20211032 |
RGD:10449177 |
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
|
|
G |
GNMT |
glycine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31086990 |
|
NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679
|
|
G |
GPAM |
glycerol-3-phosphate acyltransferase, mitochondrial |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549
|
|
G |
GPT |
glutamic--pyruvic transaminase |
severity |
ISO |
protein:increased activity:plasma CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:22922605 PMID:24768200 PMID:35654975 |
RGD:14975160 RGD:14975251 |
Ensembl chr 8:144,259,991...144,263,737
|
|
G |
GPT2 |
glutamic--pyruvic transaminase 2 |
|
ISO |
protein:increased activity:plasma |
RGD |
PMID:22922605 |
RGD:14975251 |
NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
|
|
G |
GPX1 |
glutathione peroxidase 1 |
treatment |
ISO |
|
RGD |
PMID:24597775 |
RGD:11352823 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
|
|
G |
GSR |
glutathione-disulfide reductase |
treatment |
ISO |
|
RGD |
PMID:24622831 |
RGD:10401873 |
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23643483 |
|
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23643483 |
|
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
|
|
G |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:24782632 |
RGD:14694831 |
NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
|
|
G |
HAMP |
hepcidin antimicrobial peptide |
|
ISO |
associated with iron overload;protein:increased expression:serum (human) mRNA:increased expression:liver (human) |
RGD |
PMID:28051796 PMID:29871592 |
RGD:15042878 RGD:15042880 |
NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
|
|
G |
HFE |
homeostatic iron regulator |
|
ISO |
DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation:CDS:p.H63D |
RGD |
PMID:9453491 PMID:11473047 |
RGD:1601452 RGD:8694420 |
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
|
|
G |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
disease_progression |
ISO |
mRNA:decreased expression:liver (rat) mRNA:altered expression:liver (rat) |
RGD |
PMID:19913842 PMID:23117815 PMID:25263431 |
RGD:15045604 RGD:15045610 RGD:5508690 |
NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
|
|
G |
HTR2A |
5-hydroxytryptamine receptor 2A |
treatment |
ISO |
|
RGD |
PMID:35732081 |
RGD:401900606 |
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
|
|
G |
IDE |
insulin degrading enzyme |
|
ISO |
|
RGD |
PMID:26576191 |
RGD:13792804 |
NCBI chr10:89,196,295...89,320,223
Ensembl chr10:92,716,540...92,833,353
|
|
G |
IFI30 |
IFI30 lysosomal thiol reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654975 |
|
NCBI chr19:17,652,935...17,657,239
Ensembl chr19:18,629,663...18,635,046
|
|
G |
IGF1 |
insulin like growth factor 1 |
susceptibility |
ISO |
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) |
RGD |
PMID:24275070 |
RGD:12904726 |
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
|
|
G |
IGF1R |
insulin like growth factor 1 receptor |
susceptibility |
ISO |
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) |
RGD |
PMID:24275070 |
RGD:12904726 |
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
|
|
G |
IGFBP7 |
insulin like growth factor binding protein 7 |
treatment disease_progression |
ISO |
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (human) |
RGD |
PMID:31397492 PMID:31805951 PMID:35312185 PMID:36034446 |
RGD:401960873 RGD:401960876 RGD:401960878 RGD:401960879 |
NCBI chr 4:66,808,845...66,888,301
Ensembl chr 4:73,382,745...73,462,087
|
|
G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21115542 |
|
NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
|
|
G |
IL10 |
interleukin 10 |
severity |
ISO |
associated with morbid obesity |
RGD |
PMID:25894568 |
RGD:14975151 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
|
|
G |
IL13 |
interleukin 13 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18802068 |
RGD:4145478 |
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
|
|
G |
IL18 |
interleukin 18 |
treatment severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:20422882 PMID:24006666 PMID:28660148 |
RGD:14696664 RGD:14696674 RGD:8655964 |
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
|
|
G |
IL1B |
interleukin 1 beta |
no_association |
ISO |
DNA:SNPs:CDS:rs1143634 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:CDS:rs16944 (human) |
RGD CTD |
PMID:27730688 PMID:32613381 |
RGD:14975293 |
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
|
|
G |
IL1RN |
interleukin 1 receptor antagonist |
severity |
ISO |
associated with morbid obesity, protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:22027586 PMID:35654975 |
RGD:14401582 |
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
|
|
G |
IL3 |
interleukin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
|
|
G |
IL4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
mRNA,protein:increased expression:liver,plasma DNA:SNPs:promoter:rs10499563, rs1800795 (human) |
RGD |
PMID:18510618 PMID:27730688 |
RGD:14975293 RGD:7829808 |
NCBI chr 7:23,415,922...23,420,767
|
|
G |
INS |
insulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32613381 |
|
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
|
|
G |
INSR |
insulin receptor |
treatment susceptibility |
ISO |
DNA:deletion:cds:codon 306 in exon 4 (mouse) DNA:deletion:cds: (codon 306, exon 4) (mouse) |
RGD |
PMID:28468951 PMID:29325294 |
RGD:14700929 RGD:14700932 |
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
|
|
G |
IRS1 |
insulin receptor substrate 1 |
|
ISO |
|
RGD |
PMID:20846698 |
RGD:6483014 |
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
|
|
G |
IRS2 |
insulin receptor substrate 2 |
|
ISO |
|
RGD |
PMID:20846698 |
RGD:6483014 |
NCBI chr13:90,886,095...90,917,724
|
|
G |
JAK2 |
Janus kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18782535 PMID:28100771 |
RGD:6483030 |
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
|
|
G |
KLB |
klotho beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29289645 |
|
NCBI chr 4:33,736,350...33,780,309
Ensembl chr 4:39,588,702...39,632,480
|
|
G |
KRT18 |
keratin 18 |
disease_progression |
ISO |
protein:increased expression:serum (human) associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) protein:increased degradation:serum (rat) |
RGD |
PMID:29989845 PMID:30089409 PMID:30149902 PMID:30839434 |
RGD:18337481 RGD:18337482 RGD:18337497 RGD:26884460 |
NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
|
|
G |
LAMA1 |
laminin subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr18:7,159,568...7,335,363
Ensembl chr18:9,482,895...9,656,800
|
|
G |
LDLR |
low density lipoprotein receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20938947 PMID:23127599 PMID:23285030 |
|
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
|
|
G |
LEP |
leptin |
|
ISO |
associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) OMIM:613282 | OMIM:613387 associated with type 2 diabetes mellitus;protein:increased expression:serum (human) associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
RGD MouseDO CTD |
PMID:18713300 PMID:20476641 PMID:24211274 PMID:30052309 |
RGD:2311137 RGD:25330346 RGD:25330349 |
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
|
|
G |
LEPR |
leptin receptor |
susceptibility |
ISO |
DNA:SNP:cds:p.Q223R(human) OMIM:613282 | OMIM:613387 DNA:intron:c.2673+1118C>T (rs6700896) (human) |
RGD MouseDO |
PMID:22215535 PMID:27257426 |
RGD:14696694 RGD:21079462 |
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
|
|
G |
LIF |
LIF interleukin 6 family cytokine |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608
|
|
G |
LOC100971436 |
alcohol dehydrogenase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29718361 |
|
NCBI chr 4:91,697,663...91,712,314
Ensembl chr 4:102,359,419...102,374,101
|
|
G |
LOC100972354 |
interferon alpha-2 |
|
ISO |
associated with obesity, protein:increased expression:serum (human) |
RGD |
PMID:30602382 |
RGD:21406431 |
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
|
|
G |
LOC100980944 |
delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial |
treatment |
ISO |
|
RGD |
PMID:31961704 |
RGD:21408561 |
NCBI chr19:35,909,348...35,925,686
Ensembl chr19:44,479,561...44,489,355
|
|
G |
LOC100980965 |
zinc-alpha-2-glycoprotein |
treatment |
ISO |
|
RGD |
PMID:27982256 |
RGD:153352323 |
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
|
|
G |
LPL |
lipoprotein lipase |
treatment |
ISO |
|
RGD |
PMID:27978932 PMID:30214514 |
RGD:13793398 RGD:13794377 |
NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
|
|
G |
MAPK8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
associated with Diabetes Mellitus, Type 2; protein:increased phosphorylation:adipose tissue, liver (rat) |
RGD |
PMID:24404139 PMID:27909723 |
RGD:13506784 RGD:150340686 |
NCBI chr10:45,806,748...45,936,362
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
disease_progression |
ISO |
|
RGD |
PMID:24845607 |
RGD:14694829 |
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MFN2 |
mitofusin 2 |
treatment |
ISO |
|
RGD |
PMID:26401075 |
RGD:13204743 |
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
|
|
G |
MLXIPL |
MLX interacting protein like |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
Ensembl chr 7:80,745,765...80,776,153
|
|
G |
MLYCD |
malonyl-CoA decarboxylase |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr16:64,520,860...64,537,955
Ensembl chr16:83,912,793...83,929,162
|
|
G |
MMP1 |
matrix metallopeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
severity susceptibility |
ISO |
DNA:SNP: :1298A > C (human) DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) |
RGD |
PMID:17563923 PMID:24488901 |
RGD:14696706 RGD:14696748 |
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
|
|
G |
MTTP |
microsomal triglyceride transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15094225 PMID:35654975 |
RGD:1581245 |
NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
|
|
G |
NAMPT |
nicotinamide phosphoribosyltransferase |
treatment |
ISO |
|
RGD |
PMID:27982256 |
RGD:153352323 |
NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23592516 PMID:25294219 |
RGD:10412712 |
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
ISO |
OMIM:613282 | OMIM:613387 |
MouseDO |
|
|
NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
|
|
G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
mRNA, protein:increased expression:liver (mouse) |
RGD |
PMID:21948338 |
RGD:5509578 |
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
|
|
G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:28932253 PMID:29289645 |
RGD:13434914 |
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
|
|
G |
NR1H3 |
nuclear receptor subfamily 1 group H member 3 |
|
ISO |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:25263431 |
RGD:15045610 |
NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
|
|
G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
disease_progression susceptibility treatment |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:liver (rat) DNA:deletion:cds:exon 9 (mouse) mRNA:increased expression:liver (rat) |
RGD CTD |
PMID:23117815 PMID:23700488 PMID:25263431 PMID:29142166 PMID:29743187 PMID:30257410 PMID:32062620 More...
|
RGD:14696797 RGD:14701033 RGD:15045604 RGD:15045610 RGD:15090799 |
NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
|
|
G |
NR5A2 |
nuclear receptor subfamily 5 group A member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29515023 |
|
NCBI chr 1:175,625,140...175,775,955
Ensembl chr 1:179,934,573...180,083,607
|
|
G |
PDK4 |
pyruvate dehydrogenase kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29289645 |
|
NCBI chr 7:87,540,600...87,553,673
Ensembl chr 7:101,128,060...101,141,157
|
|
G |
PEMT |
phosphatidylethanolamine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29416063 |
|
NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202
|
|
G |
PGRMC1 |
progesterone receptor membrane component 1 |
|
ISO |
OMIM:613282 | OMIM:613387 |
MouseDO |
|
|
NCBI chr X:108,282,958...108,291,187
Ensembl chr X:118,711,495...118,719,714
|
|
G |
PHYH |
phytanoyl-CoA 2-hydroxylase |
treatment |
ISO |
|
RGD |
PMID:29031784 |
RGD:13831310 |
NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018
|
|
G |
PKLR |
pyruvate kinase L/R |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
|
|
G |
PLA2G7 |
phospholipase A2 group VII |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:22112193 |
RGD:6482771 |
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
|
|
G |
PNPLA3 |
patatin like phospholipase domain containing 3 |
susceptibility |
ISO |
DNA:SNPs: : ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease |
RGD ClinVar |
PMID:18820647 PMID:21381068 PMID:24033266 PMID:24917523 PMID:25290313 PMID:26200108 PMID:26740948 PMID:27288299 PMID:28073161 PMID:28492532 PMID:29158695 More...
|
RGD:13463463 |
NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003
|
|
G |
PON2 |
paraoxonase 2 |
treatment |
ISO |
|
RGD |
PMID:22536512 |
RGD:8661257 |
NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
|
|
G |
PPARA |
peroxisome proliferator activated receptor alpha |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:23603006 PMID:31211621 |
RGD:14747028 |
Ensembl chr22:45,218,364...45,302,970
|
|
G |
PPARD |
peroxisome proliferator activated receptor delta |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16574099 PMID:29289645 |
|
NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
|
|
G |
PPARG |
peroxisome proliferator activated receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654975 |
|
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
|
|
G |
PPARGC1A |
PPARG coactivator 1 alpha |
treatment susceptibility |
ISO |
associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) |
RGD |
PMID:21373642 PMID:23269818 PMID:26394137 |
RGD:329955565 RGD:6484527 RGD:7241847 |
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
|
|
G |
PPARGC1B |
PPARG coactivator 1 beta |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr 5:145,154,517...145,315,567
Ensembl chr 5:151,203,088...151,278,837
|
|
G |
PPDPF |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
OMIM:613282 | OMIM:613387 |
MouseDO |
|
|
Ensembl chr20:61,446,522...61,447,653
|
|
G |
PRDX3 |
peroxiredoxin 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:34678374 |
|
NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
|
|
G |
PRF1 |
perforin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24211274 |
|
NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
|
|
G |
PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29341352 |
|
NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
|
|
G |
PRKCA |
protein kinase C alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29341352 |
|
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
|
|
G |
PRKCD |
protein kinase C delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29341352 |
|
NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
|
|
G |
PRKCE |
protein kinase C epsilon |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29341352 |
|
NCBI chr2A:45,757,629...46,294,064
Ensembl chr2A:46,688,436...47,220,313
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26023714 |
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
treatment |
ISO |
|
RGD |
PMID:26723251 |
RGD:11086779 |
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
RAG2 |
recombination activating 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24211274 |
|
NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
|
|
G |
RARRES2 |
retinoic acid receptor responder 2 |
disease_progression |
ISO |
mRNA:decreased expression:liver mRNA, protein:decreased expression:liver,serum |
RGD |
PMID:23507574 |
RGD:15036822 |
NCBI chr 7:141,953,600...141,956,991
Ensembl chr 7:154,106,275...154,109,635
|
|
G |
RDX |
radixin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29341352 |
|
NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557
|
|
G |
RETN |
resistin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20560816 |
RGD:7207249 |
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
|
|
G |
SAMM50 |
SAMM50 sorting and assembly machinery component |
|
ISO |
DNA:SNPs: : |
RGD |
PMID:26740948 |
RGD:13463463 |
NCBI chr22:24,844,400...24,886,056
Ensembl chr22:43,035,981...43,076,977
|
|
G |
SCARB1 |
scavenger receptor class B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23127599 |
|
NCBI chr12:122,293,803...122,455,314
Ensembl chr12:126,659,532...126,694,767
|
|
G |
SCD |
stearoyl-CoA desaturase |
treatment |
ISO |
|
RGD |
PMID:26394137 |
RGD:329955565 |
NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
|
|
G |
SERPINA1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654975 |
|
NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
|
|
G |
SERPINB2 |
serpin family B member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr18:57,242,498...57,258,676
Ensembl chr18:60,553,323...60,569,594
|
|
G |
SERPINE1 |
serpin family E member 1 |
|
ISO |
protein:increased expression:blood: |
RGD |
PMID:25091195 |
RGD:13208545 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SIDT2 |
SID1 transmembrane family member 2 |
|
ISO |
OMIM:613282 | OMIM:613387 |
MouseDO |
|
|
NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408
|
|
G |
SIRT1 |
sirtuin 1 |
severity treatment |
ISO |
protein:decreased expression:liver associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue CTD Direct Evidence: therapeutic |
RGD CTD |
PMID:17498258 PMID:20033348 PMID:22902550 PMID:26026874 |
RGD:9585663 RGD:9585746 RGD:9586021 |
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
|
|
G |
SIRT2 |
sirtuin 2 |
treatment |
ISO |
associated with Obesity |
RGD |
PMID:22327056 |
RGD:9586049 |
NCBI chr19:35,984,453...36,005,582
Ensembl chr19:44,533,965...44,554,799
|
|
G |
SIRT3 |
sirtuin 3 |
treatment |
ISO |
associated with Obesity |
RGD |
PMID:22327056 |
RGD:9586049 |
NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732
|
|
G |
SIRT4 |
sirtuin 4 |
|
ISO |
|
RGD |
PMID:20651844 |
RGD:9586052 |
NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777
|
|
G |
SIRT6 |
sirtuin 6 |
treatment |
ISO |
|
RGD |
PMID:21373642 |
RGD:6484527 |
NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126
|
|
G |
SOD2 |
superoxide dismutase 2 |
treatment |
ISO |
|
RGD |
PMID:15094225 PMID:24597775 |
RGD:11352823 RGD:1581245 |
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
disease_progression treatment |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (mouse) |
CTD RGD |
PMID:23603006 PMID:24633463 PMID:26394137 PMID:29173234 |
RGD:329955565 RGD:401827867 |
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
|
RGD |
PMID:18782535 |
RGD:6483030 |
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
|
|
G |
STC2 |
stanniocalcin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24097666 |
|
NCBI chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832
|
|
G |
TFF3 |
trefoil factor 3 |
treatment |
ISO |
mRNA,protein:decreased expression:liver: |
RGD |
PMID:31211621 |
RGD:14747028 |
NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268
|
|
G |
TFRC |
transferrin receptor |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:23805238 |
RGD:11541090 |
NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
|
|
G |
TG |
thyroglobulin |
sexual_dimorphism |
ISO |
|
RGD |
PMID:30016121 |
RGD:401976499 |
NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 PMID:32613381 |
|
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
|
|
G |
TLR4 |
toll like receptor 4 |
severity treatment |
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:22253482 PMID:23301938 PMID:25413054 |
RGD:14700656 RGD:14700658 RGD:7777122 |
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
|
|
G |
TM6SF2 |
transmembrane 6 superfamily member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24531328 |
|
NCBI chr19:18,703,075...18,712,056
Ensembl chr19:19,706,235...19,715,096
|
|
G |
TNF |
tumor necrosis factor |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism associated with morbid obesity protein:increased expression:serum, liver (rat) |
RGD CTD |
PMID:19034968 PMID:25219124 PMID:25894568 PMID:32613381 |
RGD:10450574 RGD:14975151 RGD:14995482 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
TNFAIP3 |
TNF alpha induced protein 3 |
severity |
ISO |
|
RGD |
PMID:27253414 |
RGD:151347600 |
NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
|
|
G |
TNFRSF1B |
TNF receptor superfamily member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20353583 |
|
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
|
|
G |
TRIB1 |
tribbles pseudokinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654975 |
|
NCBI chr 8:122,115,194...122,123,319
Ensembl chr 8:124,867,359...124,872,924
|
|
G |
TRIB3 |
tribbles pseudokinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29289645 |
|
NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486
|
|
G |
UCP2 |
uncoupling protein 2 |
treatment |
ISO |
mRNA:increased expression:liver mRNA, protein:increased expression:liver |
RGD |
PMID:18308829 PMID:18543254 PMID:21359922 |
RGD:7175312 RGD:7204434 RGD:7204435 |
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
|
|
G |
VDR |
vitamin D receptor |
treatment |
ISO |
mRNA,protein:increased expression:hepatocyte: |
RGD |
PMID:27245430 |
RGD:14401753 |
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
|
|
G |
VLDLR |
very low density lipoprotein receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29289645 |
|
NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
|
|
G |
XBP1 |
X-box binding protein 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24097666 PMID:26394137 |
RGD:329955565 |
NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
|
|
|
G |
ADM2 |
adrenomedullin 2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,729,236...30,734,801
Ensembl chr22:49,715,342...49,719,989
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:25741868 PMID:28842795 |
|
NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271
|
|
G |
ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,110,873...30,139,359
Ensembl chr22:49,126,234...49,136,740
|
|
G |
ALMS1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
|
|
NCBI chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
|
|
G |
ARSA |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe |
OMIM ClinVar |
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2299327 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7649558 PMID:7749412 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9272717 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9536098 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:9888390 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15710861 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17413447 PMID:17438611 PMID:17560502 PMID:17576681 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20141713 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21080229 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22854541 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25344692 PMID:25482214 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28296894 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28749476 PMID:28762252 PMID:28799099 PMID:28923328 PMID:29379168 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29961769 PMID:29966168 PMID:30026549 PMID:30052522 PMID:30057904 PMID:30293248 PMID:30674982 PMID:30828547 PMID:30834272 PMID:31069529 PMID:31130284 PMID:31186049 PMID:31312839 PMID:31664448 PMID:31694723 PMID:31922587 PMID:31922725 PMID:31967741 PMID:31969187 PMID:31980526 PMID:32113700 PMID:32617873 PMID:32632536 PMID:32860008 PMID:32875726 PMID:33046606 PMID:33138774 PMID:33185815 PMID:33335837 PMID:33385934 PMID:33855715 PMID:34276053 PMID:34490615 PMID:34554397 PMID:36240581 PMID:36324388 More...
|
|
NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
|
|
G |
ARSB |
arylsulfatase B |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 More...
|
|
NCBI chr 5:36,325,581...36,534,371
Ensembl chr 5:36,804,874...37,023,739
|
|
G |
BRD1 |
bromodomain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:29,993,902...30,048,349
Ensembl chr22:48,998,037...49,048,101
|
|
G |
CHKB |
choline kinase beta |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,825,128...30,829,203
Ensembl chr22:49,936,470...49,940,625
|
|
G |
CIMAP1B |
ciliary microtubule associated protein 1B |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,776,765...30,779,060
Ensembl chr22:49,887,093...49,889,488
|
|
G |
CPT1B |
carnitine palmitoyltransferase 1B |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,815,073...30,825,341
Ensembl chr22:49,926,893...49,935,420
|
|
G |
CRELD2 |
cysteine rich with EGF like domains 2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,139,539...30,152,462
Ensembl chr22:49,141,973...49,156,375
|
|
G |
DENND6B |
DENN domain containing 6B |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,541,364...30,556,150
Ensembl chr22:49,539,957...49,547,464
|
|
G |
EIF2B5 |
eukaryotic translation initiation factor 2B subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707 More...
|
|
NCBI chr 3:181,170,806...181,180,923
Ensembl chr 3:189,652,554...189,665,528
|
|
G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 More...
|
|
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
|
|
G |
HCFC1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Arylsulfatase A Deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999
|
|
G |
HDAC10 |
histone deacetylase 10 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,473,753...30,481,369
Ensembl chr22:49,473,369...49,479,216
|
|
G |
IL17REL |
interleukin 17 receptor E like |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,221,096...30,240,052
Ensembl chr22:49,226,640...49,231,051
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:25741868 PMID:33260297 |
|
NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
|
|
G |
KLHDC7B |
kelch domain containing 7B |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,792,136...30,797,297
|
|
G |
LMF2 |
lipase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,749,448...30,754,616
Ensembl chr22:49,859,550...49,864,237
|
|
G |
LOC100976808 |
protein SCO2 homolog, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
MAL |
mal, T cell differentiation protein |
|
ISO |
|
RGD |
PMID:15193296 |
RGD:1358761 |
NCBI chr2A:104,355,020...104,382,849
Ensembl chr2A:95,930,315...95,956,573
|
|
G |
MAPK11 |
mitogen-activated protein kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,492,664...30,499,456
Ensembl chr22:49,492,693...49,495,732
|
|
G |
MAPK12 |
mitogen-activated protein kinase 12 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,481,898...30,490,769
Ensembl chr22:49,481,763...49,489,599
|
|
G |
MAPK8IP2 |
mitogen-activated protein kinase 8 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,846,613...30,857,737
Ensembl chr22:49,957,769...49,966,986
|
|
G |
MIOX |
myo-inositol oxygenase |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,735,206...30,738,738
Ensembl chr22:49,720,339...49,724,370
|
|
G |
MLC1 |
modulator of VRAC current 1 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
|
|
G |
MOV10L1 |
Mov10 like RNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,320,202...30,391,121
Ensembl chr22:49,319,203...49,389,765
|
|
G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027
|
|
G |
PANX2 |
pannexin 2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045
|
|
G |
PIM3 |
Pim-3 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,186,716...30,190,270
|
|
G |
PLXNB2 |
plexin B2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,503,884...30,537,082
Ensembl chr22:49,502,489...49,517,613
|
|
G |
POLR3A |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30450527 More...
|
|
NCBI chr10:74,496,121...74,550,054
|
|
G |
PPP6R2 |
protein phosphatase 6 regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,572,446...30,690,242
Ensembl chr22:49,600,643...49,674,482
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild |
ClinVar |
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:34649574 PMID:35456468 More...
|
|
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
|
|
G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:25741868 PMID:28842795 |
|
NCBI chr X:119,298,428...119,311,625
Ensembl chr X:129,591,222...129,605,214
|
|
G |
SBF1 |
SET binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
|
|
G |
SELENOO |
selenoprotein O |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,429,334...30,446,169
|
|
G |
SYCE3 |
synaptonemal complex central element protein 3 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,797,389...30,809,517
Ensembl chr22:49,908,095...49,913,903
|
|
G |
TRABD |
TraB domain containing |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,413,948...30,427,935
Ensembl chr22:49,421,306...49,428,530
|
|
G |
TTLL8 |
tubulin tyrosine ligase like 8 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,242,515...30,286,759
Ensembl chr22:49,245,796...49,286,113
|
|
G |
TUBGCP6 |
tubulin gamma complex component 6 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
|
|
G |
TYMP |
thymidine phosphorylase |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,772,088...30,776,618
|
|
G |
ZBED4 |
zinc finger BED-type containing 4 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
|
|
NCBI chr22:30,075,081...30,111,359
|
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency |
OMIM ClinVar |
PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:25741868 PMID:26462614 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:33219486 PMID:35456468 More...
|
|
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
|
|
|
G |
CDC42 |
cell division cycle 42 |
|
ISO |
OMIM:251850 |
MouseDO |
|
|
NCBI chr 1:21,245,970...21,286,210
|
|
G |
MYO5B |
myosin VB |
|
ISO |
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 ClinVar |
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:25741895 PMID:26553929 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:28899465 PMID:29266534 PMID:32304554 PMID:32888943 PMID:33525641 More...
|
|
NCBI chr18:43,207,387...43,575,951
Ensembl chr18:46,555,259...46,786,223
|
|
|
G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis |
ClinVar |
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:19197337 PMID:19617216 PMID:19634183 PMID:20301728 PMID:21416587 PMID:21549105 PMID:22495880 PMID:22570975 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24375680 PMID:24798265 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26385638 PMID:27662472 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:29704188 PMID:29872134 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31130284 PMID:31579991 PMID:31934135 PMID:32651481 More...
|
|
NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
|
|
G |
GNPTG |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis |
ClinVar |
PMID:24033266 PMID:25741868 |
|
Ensembl chr16:1,407,385...1,418,523
|
|
G |
MCOLN1 |
mucolipin TRP cation channel 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis |
ClinVar |
PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:15523648 PMID:16287144 PMID:16645217 PMID:17384215 PMID:19815695 PMID:23555759 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
|
|
|
G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: Inclusion cell disease | ClinVar Annotator: match by term: Mucolipidosis type II |
OMIM ClinVar |
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20301730 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:22495880 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24060719 PMID:24375680 PMID:24550498 PMID:24767253 PMID:24798265 PMID:24807205 PMID:25107912 PMID:25473036 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26274329 PMID:26385638 PMID:26633542 PMID:27180337 PMID:27239697 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29140481 PMID:29704188 PMID:29872134 PMID:29966168 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31003007 PMID:31130284 PMID:31319225 PMID:31405983 PMID:31579991 PMID:31589614 PMID:31603145 PMID:31795562 PMID:31934135 PMID:32014045 PMID:32341820 PMID:32651481 PMID:32746448 PMID:32860008 PMID:33594065 PMID:34008892 PMID:34426522 PMID:34440436 PMID:34645491 PMID:35463894 More...
|
|
NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
|
|
|
G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical |
ClinVar |
PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 |
|
NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
|
|
|
G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy |
OMIM ClinVar |
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:32651481 PMID:34426522 PMID:34440436 PMID:34645491 More...
|
|
NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
|
|
|
G |
GNPTG |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma |
OMIM ClinVar |
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:20951619 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:24807205 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27896079 PMID:28492532 PMID:28950892 PMID:29170090 PMID:29704188 PMID:29872134 PMID:30235039 PMID:30507725 PMID:30882951 PMID:32651481 PMID:36344539 More...
|
|
Ensembl chr16:1,407,385...1,418,523
|
|
G |
UNKL |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM |
ClinVar |
|
|
NCBI chr16:11,145...39,682
Ensembl chr16:1,418,377...1,457,134
|
|
|
G |
ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,861,870...7,892,442
Ensembl chr19:8,708,164...8,737,556
|
|
G |
ADGRE1 |
adhesion G protein-coupled receptor E1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,918,097...5,970,069
Ensembl chr19:6,838,787...6,891,292
|
|
G |
ALKBH7 |
alkB homolog 7 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,393,317...5,395,886
Ensembl chr19:6,315,604...6,318,170
|
|
G |
ANGPTL4 |
angiopoietin like 4 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,649,429...7,660,154
Ensembl chr19:8,499,858...8,510,148
|
|
G |
ARHGEF18 |
Rho/Rac guanine nucleotide exchange factor 18 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,677,468...6,763,286
|
|
G |
C3 |
complement C3 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
|
|
G |
CAMSAP3 |
calmodulin regulated spectrin associated protein family member 3 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,885,979...6,908,067
Ensembl chr19:7,749,945...7,763,056
|
|
G |
CCL25 |
C-C motif chemokine ligand 25 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,307,109...7,363,983
Ensembl chr19:8,208,273...8,217,780
|
|
G |
CD209 |
CD209 molecule |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,042,033...7,047,350
|
|
G |
CD320 |
CD320 molecule |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,587,760...7,594,055
Ensembl chr19:8,438,955...8,445,464
|
|
G |
CD70 |
CD70 molecule |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,615,056...5,621,055
Ensembl chr19:6,535,559...6,542,310
|
|
G |
CERS4 |
ceramide synthase 4 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,509,213...7,562,394
Ensembl chr19:8,364,569...8,415,345
|
|
G |
CLEC4G |
C-type lectin domain family 4 member G |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,015,848...7,019,396
Ensembl chr19:7,870,730...7,873,631
|
|
G |
CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077
|
|
G |
CRB3 |
crumbs cell polarity complex component 3 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,485,925...5,494,853
Ensembl chr19:6,414,370...6,417,485
|
|
G |
CTXN1 |
cortexin 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,225,738...7,227,412
Ensembl chr19:8,079,181...8,079,429
|
|
G |
DENND1C |
DENN domain containing 1C |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,495,078...5,516,532
Ensembl chr19:6,417,475...6,433,162
|
|
G |
ELAVL1 |
ELAV like RNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137
|
|
G |
EVI5L |
ecotropic viral integration site 5 like |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,132,274...7,167,051
Ensembl chr19:7,985,803...8,018,455
|
|
G |
FBN3 |
fibrillin 3 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,366,530...7,450,545
Ensembl chr19:8,222,701...8,305,586
|
|
G |
FCER2 |
Fc epsilon receptor II |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,978,116...6,989,986
Ensembl chr19:7,834,106...7,844,924
|
|
G |
GPR108 |
G protein-coupled receptor 108 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,762,576...5,770,169
Ensembl chr19:6,684,024...6,691,620
|
|
G |
GTF2F1 |
general transcription factor IIF subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,401,090...5,414,142
Ensembl chr19:6,323,780...6,336,215
|
|
G |
HNRNPM |
heterogeneous nuclear ribonucleoprotein M |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029
|
|
G |
INSR |
insulin receptor |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
|
|
G |
KANK3 |
KN motif and ankyrin repeat domains 3 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,608,301...7,628,936
|
|
G |
KHSRP |
KH-type splicing regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,433,989...5,445,721
|
|
G |
LOC100978434 |
C-type lectin domain family 4 member M |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,062,961...7,069,381
|
|
G |
LOC100983712 |
protein PET100 homolog, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,919,469...6,921,359
|
|
G |
LRRC8E |
leucine rich repeat containing 8 VRAC subunit E |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,189,490...7,203,310
Ensembl chr19:8,041,185...8,055,684
|
|
G |
MAP2K7 |
mitogen-activated protein kinase kinase 7 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
|
|
G |
MARCHF2 |
membrane associated ring-CH-type finger 2 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,699,828...7,726,094
Ensembl chr19:8,554,242...8,573,672
|
|
G |
MCEMP1 |
mast cell expressed membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,966,022...6,969,354
Ensembl chr19:7,821,177...7,827,590
|
|
G |
MCOLN1 |
mucolipin TRP cation channel 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type 4 | ClinVar Annotator: match by term: Mucolipidosis type IV |
OMIM ClinVar |
PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:12125810 PMID:12182165 PMID:14749347 PMID:15178326 PMID:15523648 PMID:16199547 PMID:16257972 PMID:16287144 PMID:16645217 PMID:16978393 PMID:17239335 PMID:17306511 PMID:17384215 PMID:17576681 PMID:18326692 PMID:18794901 PMID:19815695 PMID:20159435 PMID:21763169 PMID:22268962 PMID:22281206 PMID:23555759 PMID:23685283 PMID:24033266 PMID:25119295 PMID:25465891 PMID:25741868 PMID:25933391 PMID:26467025 PMID:27670435 PMID:28112729 PMID:28492532 PMID:28604674 PMID:28936784 PMID:29019983 PMID:30120981 PMID:31578829 PMID:31618753 PMID:31623504 PMID:31899079 PMID:32214227 PMID:32860008 PMID:33454187 PMID:33963976 PMID:35425852 PMID:36344503 PMID:37972748 More...
|
|
NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
|
|
G |
MYO1F |
myosin IF |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,807,863...7,858,955
Ensembl chr19:8,656,082...8,705,107
|
|
G |
NDUFA7 |
NADH:ubiquinone oxidoreductase subunit A7 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,597,055...7,607,149
Ensembl chr19:8,448,211...8,458,270
|
|
G |
PCP2 |
Purkinje cell protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,921,350...6,923,618
Ensembl chr19:7,776,331...7,779,241
|
|
G |
PEX11G |
peroxisomal biogenesis factor 11 gamma |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174
|
|
G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
|
|
G |
PRAM1 |
PML-RARA regulated adaptor molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,775,887...7,789,657
|
|
G |
PSPN |
persephin |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,396,022...5,398,108
Ensembl chr19:6,318,428...6,320,344
|
|
G |
RAB11B |
RAB11B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,676,095...7,690,177
|
|
G |
RETN |
resistin |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
|
|
G |
RPS28 |
ribosomal protein S28 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,607,197...7,608,113
Ensembl chr19:8,458,321...8,459,250
|
|
G |
SAXO5 |
stabilizer of axonemal microtubules 5 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,788,323...6,799,578
|
|
G |
SH2D3A |
SH2 domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,784,482...5,800,339
Ensembl chr19:6,706,040...6,720,757
|
|
G |
SLC25A23 |
solute carrier family 25 member 23 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,474,538...5,487,364
Ensembl chr19:6,388,937...6,410,480
|
|
G |
SLC25A41 |
solute carrier family 25 member 41 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,446,931...5,449,135
Ensembl chr19:6,371,338...6,382,413
|
|
G |
SNAPC2 |
small nuclear RNA activating complex polypeptide 2 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,221,613...7,224,501
Ensembl chr19:8,074,290...8,076,662
|
|
G |
STXBP2 |
syntaxin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038
|
|
G |
TGFBR3L |
transforming growth factor beta receptor 3 like |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,216,766...7,220,394
Ensembl chr19:8,070,344...8,072,052
|
|
G |
TIMM44 |
translocase of inner mitochondrial membrane 44 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479
|
|
G |
TNFSF14 |
TNF superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,691,648...5,700,935
Ensembl chr19:6,614,378...6,621,763
|
|
G |
TNFSF9 |
TNF superfamily member 9 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352
|
|
G |
TRAPPC5 |
trafficking protein particle complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,970,318...6,972,378
|
|
G |
TRIP10 |
thyroid hormone receptor interactor 10 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,772,225...5,784,078
Ensembl chr19:6,693,646...6,705,399
|
|
G |
TUBB4A |
tubulin beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
|
|
G |
VAV1 |
vav guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112
|
|
G |
XAB2 |
XPA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,909,281...6,919,332
Ensembl chr19:7,764,264...7,774,305
|
|
G |
ZNF358 |
zinc finger protein 358 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
NCBI chr19:6,806,690...6,811,914
Ensembl chr19:7,668,319...7,670,046
|
|
G |
ZNF414 |
zinc finger protein 414 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:28492532 |
|
NCBI chr19:7,797,356...7,801,278
|
|
G |
ZNF557 |
zinc finger protein 557 |
|
ISO |
ClinVar Annotator: match by term: Mucolipidosis type IV |
ClinVar |
PMID:11030752 PMID:11317355 PMID:28492532 |
|
|
|
|
G |
ARSG |
arylsulfatase G |
|
ISO |
OMIM:252700 |
MouseDO |
|
|
NCBI chr17:62,195,977...62,379,362
Ensembl chr17:67,588,347...67,768,454
|
|
G |
ARSK |
arylsulfatase family member K |
|
ISO |
OMIM:252700 |
MouseDO |
|
|
NCBI chr 5:19,744,154...19,794,098
Ensembl chr 5:19,890,869...19,939,068
|
|
G |
CARD14 |
caspase recruitment domain family member 14 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidoses |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 PMID:11343308 PMID:12490062 PMID:15146460 PMID:18407553 PMID:21061399 PMID:22976768 PMID:22976788 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:30809705 PMID:31536183 More...
|
|
NCBI chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
|
|
G |
GUSB |
glucuronidase beta |
disease_progression |
ISO |
protein:decreases activity:spleen, kidney, lung (rat) |
RGD |
PMID:2879381 |
RGD:42724461 |
NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
|
|
G |
HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:25741868 PMID:27827379 PMID:28492532 PMID:31228227 PMID:31536183 More...
|
|
NCBI chr 8:42,388,406...42,448,466
|
|
G |
HYAL1 |
hyaluronidase 1 |
|
ISO |
mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 |
RGD |
PMID:10339581 |
RGD:1599811 |
NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
|
|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: IDUA pseudodeficiency | ClinVar Annotator: match by term: Mucopolysaccharidoses |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:8554071 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 More...
|
|
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11068184 PMID:16151907 PMID:18218046 PMID:20040070 PMID:20852935 PMID:21204211 PMID:21712855 PMID:22976768 PMID:23084433 PMID:23667853 PMID:25256447 PMID:25520920 PMID:25741868 PMID:26907177 PMID:27590925 PMID:28306536 PMID:28492532 PMID:28751108 PMID:28836185 PMID:29661560 PMID:29979746 PMID:31413257 PMID:31536183 PMID:33747789 PMID:217121855 More...
|
|
NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
|
|
G |
SGSH |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:11182930 PMID:11343308 PMID:12490062 PMID:15146460 PMID:15542396 PMID:18407553 PMID:21061399 PMID:21204211 PMID:21671382 PMID:21910976 PMID:22976768 PMID:22976788 PMID:24314109 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30809705 PMID:31536183 PMID:32581362 More...
|
|
NCBI chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
|
|
G |
SLC26A1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidoses |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 More...
|
|
NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
|
|
G |
SLC26A11 |
solute carrier family 26 member 11 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 PMID:10601282 PMID:11182930 PMID:15542396 PMID:21061399 PMID:21910976 PMID:22976768 PMID:24314109 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:30809705 PMID:31536183 More...
|
|
NCBI chr17:74,647,880...74,681,247
Ensembl chr17:80,381,942...80,414,210
|
|
|
G |
IDUA |
alpha-L-iduronidase |
treatment |
ISO |
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: IDUA-related condition | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
RGD ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8019572 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9536098 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11172140 PMID:11555618 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:12796790 PMID:12948739 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15126990 PMID:15128896 PMID:15194053 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16188808 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:16860035 PMID:17407067 PMID:17407189 PMID:17570076 PMID:17576681 PMID:17606547 PMID:18463126 PMID:18523448 PMID:18792977 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20026495 PMID:20217237 PMID:20301341 PMID:21176924 PMID:21253827 PMID:21364962 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21667973 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22306676 PMID:22976768 PMID:23084433 PMID:23430557 PMID:23430803 PMID:23465405 PMID:23757202 PMID:23786846 PMID:23837464 PMID:23959878 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24100243 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24767253 PMID:24781210 PMID:24798265 PMID:24875751 PMID:25009127 PMID:25098213 PMID:25102484 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25558755 PMID:25597593 PMID:25614311 PMID:25741868 PMID:26260077 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27392569 PMID:27511503 PMID:27520059 PMID:27766162 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28676128 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:28844463 PMID:29095814 PMID:29120458 PMID:29140481 PMID:29143201 PMID:29282708 PMID:29393969 PMID:29620724 PMID:29654546 PMID:29705972 PMID:29801497 PMID:29843745 PMID:29906569 PMID:29947050 PMID:29976218 PMID:30083803 PMID:30093709 PMID:30442156 PMID:30755342 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252 PMID:31236806 PMID:31298590 PMID:31319022 PMID:31341245 PMID:31386236 PMID:31400021 PMID:31678774 PMID:31758674 PMID:31991612 PMID:32188113 PMID:32432561 PMID:32670797 PMID:33073008 PMID:33098355 PMID:33198351 PMID:33301762 PMID:33389473 PMID:33517895 PMID:33686258 PMID:34148116 PMID:34813777 PMID:34833038 PMID:35141277 PMID:35787971 PMID:36265282 More...
|
RGD:12910497 RGD:12910499 RGD:12910502 RGD:12910503 RGD:12910508 RGD:12910510 RGD:12910716 RGD:12910719 RGD:12910720 RGD:329961545 RGD:329961548 RGD:329961554 |
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
G |
SLC26A1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 |
ClinVar |
PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16199547 PMID:16438163 PMID:17407067 PMID:18796143 PMID:19396826 PMID:19839758 PMID:20217237 PMID:21176924 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21734815 PMID:21831683 PMID:22306676 PMID:22976768 PMID:23430803 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24781210 PMID:24798265 PMID:25009127 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27511503 PMID:27766162 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29282708 PMID:29393969 PMID:29843745 PMID:30755342 PMID:31194252 PMID:31236806 PMID:32432561 More...
|
|
NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
|
|
|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH |
OMIM ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8019572 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9536098 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:12796790 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16188808 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:17576681 PMID:17606547 PMID:18463126 PMID:18792977 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20217237 PMID:20301341 PMID:21253827 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22306676 PMID:22976768 PMID:23084433 PMID:23210910 PMID:23430557 PMID:23430803 PMID:23465405 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24767253 PMID:24798265 PMID:24875751 PMID:25009127 PMID:25098213 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25558755 PMID:25614311 PMID:25741868 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27392569 PMID:27511503 PMID:27520059 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28676128 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:28844463 PMID:29095814 PMID:29143201 PMID:29282708 PMID:29393969 PMID:29620724 PMID:29654546 PMID:29801497 PMID:29843745 PMID:29906569 PMID:29976218 PMID:30083803 PMID:30442156 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252 PMID:31236806 PMID:31298590 PMID:31678774 PMID:31991612 PMID:32188113 PMID:32432561 PMID:33073008 PMID:33301762 PMID:33517895 PMID:33686258 PMID:34813777 More...
|
|
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
G |
PITX1 |
paired like homeodomain 1 |
|
ISO |
ClinVar Annotator: match by term: Hurler syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350
|
|
G |
SLC26A1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome |
ClinVar |
PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16199547 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19839758 PMID:20217237 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21831683 PMID:22306676 PMID:22976768 PMID:23430803 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24798265 PMID:25009127 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27511503 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29282708 PMID:29393969 PMID:29843745 PMID:31194252 PMID:31236806 PMID:32432561 More...
|
|
NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
|
|
|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S |
OMIM ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9536098 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:17576681 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:22074387 PMID:22306676 PMID:22976768 PMID:23084433 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25741868 PMID:26260077 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27511503 PMID:27520059 PMID:27896125 PMID:28492532 PMID:28676128 PMID:28752568 PMID:29282708 PMID:29393969 PMID:29654546 PMID:29801497 PMID:30093709 PMID:30442156 PMID:30809705 PMID:31194252 PMID:32188113 PMID:32432561 PMID:33073008 PMID:33098355 PMID:33301762 PMID:33517895 PMID:35787971 More...
|
|
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
G |
SLC26A1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8213840 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15862278 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21831683 PMID:22306676 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:25741868 PMID:27896125 PMID:28492532 PMID:28752568 PMID:29282708 PMID:29393969 More...
|
|
NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
|
|
|
G |
IDS |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form |
OMIM ClinVar |
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 PMID:1906048 PMID:7581397 PMID:7728156 PMID:7814022 PMID:7866405 PMID:7887413 PMID:8111411 PMID:8318991 PMID:8364592 PMID:8664909 PMID:8807335 PMID:8829647 PMID:8829661 PMID:8830188 PMID:8940265 PMID:9222763 PMID:9266380 PMID:9375851 PMID:9501270 PMID:9536098 PMID:9573369 PMID:9660053 PMID:9762601 PMID:9875019 PMID:9921913 PMID:9950361 PMID:10215411 PMID:10220152 PMID:10671065 PMID:10738003 PMID:10814710 PMID:10838181 PMID:11452244 PMID:11462244 PMID:11683780 PMID:11731225 PMID:12572848 PMID:12794697 PMID:14728992 PMID:15614569 PMID:16133661 PMID:16199547 PMID:16480701 PMID:16495038 PMID:17063374 PMID:17091340 PMID:17284421 PMID:17343270 PMID:17391447 PMID:17576681 PMID:17655837 PMID:18414213 PMID:18500569 PMID:19573456 PMID:20104590 PMID:20301451 PMID:21291454 PMID:21639919 PMID:21829674 PMID:22153556 PMID:22190500 PMID:22286622 PMID:22492741 PMID:22912587 PMID:22976768 PMID:22976778 PMID:22990955 PMID:23430829 PMID:24125893 PMID:24268528 PMID:24454794 PMID:24515576 PMID:24780617 PMID:24875751 PMID:25038527 PMID:25640679 PMID:25681085 PMID:25741868 PMID:25976201 PMID:26407519 PMID:26693516 PMID:26752647 PMID:26762690 PMID:27146977 PMID:27246110 PMID:27351199 PMID:27848944 PMID:27883178 PMID:27896113 PMID:28077157 PMID:28492532 PMID:28543354 PMID:28593992 PMID:29801497 PMID:30409495 PMID:30639582 PMID:30755392 PMID:30809705 PMID:31732130 PMID:31877959 PMID:31895584 PMID:32005694 PMID:32014045 PMID:33075783 PMID:33096603 PMID:33117908 PMID:33124617 PMID:33622387 PMID:33676511 PMID:33960103 PMID:34670126 PMID:34813777 PMID:35005816 PMID:35144014 PMID:35242576 PMID:36945845 More...
|
|
NCBI chr X:138,493,117...138,520,017
Ensembl chr X:148,912,475...148,946,441
|
|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
|
G |
CARD14 |
caspase recruitment domain family member 14 |
|
ISO |
ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 PMID:11343308 PMID:12490062 PMID:15146460 PMID:18407553 PMID:21061399 PMID:22976768 PMID:22976788 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:30809705 PMID:31536183 More...
|
|
NCBI chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
|
|
G |
COASY |
Coenzyme A synthase |
susceptibility |
ISO |
DNA:nonsense mutation, splice-site mutation, missense mutations:multiple |
RGD |
PMID:11153910 |
RGD:1642057 |
NCBI chr17:14,750,246...14,754,417
Ensembl chr17:14,973,662...14,977,797
|
|
G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr12:24,164,127...24,209,963
Ensembl chr12:24,667,603...24,712,939
|
|
G |
HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:21384162 PMID:23301227 PMID:24767253 PMID:25491247 PMID:25525159 PMID:25741868 PMID:26287674 PMID:26350204 PMID:27243974 PMID:28041643 PMID:28101780 PMID:28468868 PMID:28492532 PMID:29140481 PMID:31228227 PMID:31536183 PMID:32770643 PMID:35848209 More...
|
|
NCBI chr 8:42,388,406...42,448,466
|
|
G |
IDS |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency |
ClinVar |
PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:18500569 PMID:21291454 PMID:21829674 PMID:25741868 PMID:27146977 PMID:28492532 More...
|
|
NCBI chr X:138,493,117...138,520,017
Ensembl chr X:148,912,475...148,946,441
|
|
G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
|
ISO |
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11286389 PMID:11668611 PMID:12202988 PMID:14984474 PMID:15300983 PMID:15933803 PMID:18218046 PMID:20852935 PMID:21204211 PMID:21937992 PMID:22976768 PMID:23380547 PMID:23430803 PMID:23667853 PMID:25520920 PMID:25525159 PMID:25741868 PMID:26907177 PMID:27590925 PMID:28492532 PMID:28751108 PMID:28844463 PMID:29269699 PMID:29661560 PMID:29979746 PMID:30070758 PMID:31413257 PMID:31536183 PMID:31969655 PMID:32883051 PMID:33083013 PMID:33747789 PMID:34396902 More...
|
|
NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
|
|
G |
SGSH |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:12000360 PMID:12490062 PMID:15146460 PMID:15542396 PMID:18407553 PMID:19099774 PMID:21061399 PMID:21204211 PMID:21671382 PMID:21910976 PMID:22002444 PMID:22976768 PMID:22976788 PMID:24314109 PMID:24816101 PMID:24875751 PMID:25557439 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30809705 PMID:31536183 PMID:32581362 More...
|
|
NCBI chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
|
|
G |
SLC26A11 |
solute carrier family 26 member 11 |
|
ISO |
ClinVar Annotator: match by term: Sanfilippo syndrome |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 PMID:10601282 PMID:11182930 PMID:15542396 PMID:21061399 PMID:21910976 PMID:22976768 PMID:24314109 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:30809705 PMID:31536183 More...
|
|
NCBI chr17:74,647,880...74,681,247
Ensembl chr17:80,381,942...80,414,210
|
|
|
G |
APRT |
adenine phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Morquio syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
|
|
G |
GALNS |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome |
ClinVar |
PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9385378 PMID:9401012 PMID:9521421 PMID:9536098 PMID:10814710 PMID:11524742 PMID:12442278 PMID:12721840 PMID:15235041 PMID:15241807 PMID:15309681 PMID:16287098 PMID:16837223 PMID:16959974 PMID:17576681 PMID:17876718 PMID:18710657 PMID:20574428 PMID:21506915 PMID:22521955 PMID:22940367 PMID:22976768 PMID:23227063 PMID:23401410 PMID:23430803 PMID:23844448 PMID:23876334 PMID:24033266 PMID:24035930 PMID:24120057 PMID:24389823 PMID:24726177 PMID:24773188 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25364648 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25741868 PMID:26112015 PMID:26147980 PMID:26502894 PMID:27317439 PMID:28397226 PMID:28492532 PMID:28844463 PMID:29140481 PMID:29275451 PMID:29731656 PMID:29779902 PMID:29869463 PMID:30023300 PMID:30091983 PMID:30094185 PMID:30408610 PMID:30458289 PMID:30609409 PMID:30797135 PMID:30809705 PMID:30927141 PMID:30980944 PMID:31200731 PMID:31732130 PMID:32014045 PMID:32183856 PMID:32216080 PMID:32860008 PMID:32905071 PMID:32993725 PMID:33083013 PMID:33726816 PMID:34387910 PMID:34405919 PMID:34426522 PMID:34813777 PMID:34828358 PMID:35094026 PMID:35212421 PMID:35782601 PMID:36077388 More...
|
|
NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
|
|
G |
GLB1 |
galactosidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Morquio syndrome |
ClinVar |
|
|
NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
|
|
G |
LOC100980531 |
eotaxin |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:22176730 |
RGD:7247741 |
NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345 Ensembl chr17:22,806,076...22,808,345
|
|
G |
TMPPE |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: Morquio syndrome |
ClinVar |
|
|
NCBI chr 3:33,024,623...33,031,877
|
|
|
G |
APRT |
adenine phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 |
|
NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 |
|
NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823
|
|
G |
GALNS |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
OMIM ClinVar |
PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7795586 PMID:7987329 PMID:8651279 PMID:8826435 PMID:8829629 PMID:8844220 PMID:9290256 PMID:9298823 PMID:9375852 PMID:9385378 PMID:9401012 PMID:9521421 PMID:9536098 PMID:9660054 PMID:10479485 PMID:10699374 PMID:10814710 PMID:11524742 PMID:12442278 PMID:12721840 PMID:15235041 PMID:15241807 PMID:15309681 PMID:16199547 PMID:16287098 PMID:16378744 PMID:16837223 PMID:16959974 PMID:17576681 PMID:17876718 PMID:18710657 PMID:18792995 PMID:20574428 PMID:21506915 PMID:21644215 PMID:21896407 PMID:22078177 PMID:22178352 PMID:22327063 PMID:22487817 PMID:22521955 PMID:22940367 PMID:22976768 PMID:23137060 PMID:23227063 PMID:23313879 PMID:23401410 PMID:23430803 PMID:23844448 PMID:23876334 PMID:24033266 PMID:24035930 PMID:24120057 PMID:24389823 PMID:24411403 PMID:24726177 PMID:24767253 PMID:24773188 PMID:24875751 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25364648 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25640679 PMID:25741868 PMID:26112015 PMID:26147980 PMID:26276046 PMID:26502894 PMID:27243974 PMID:27317439 PMID:27331011 PMID:27825773 PMID:28397226 PMID:28492532 PMID:28844463 PMID:29140481 PMID:29275451 PMID:29426755 PMID:29620724 PMID:29731656 PMID:29779902 PMID:29869463 PMID:30023300 PMID:30091983 PMID:30094185 PMID:30138938 PMID:30305043 PMID:30408610 PMID:30458289 PMID:30487145 PMID:30609409 PMID:30797135 PMID:30809705 PMID:30927141 PMID:30980944 PMID:31200731 PMID:31732130 PMID:31991612 PMID:32014045 PMID:32024277 PMID:32102177 PMID:32183856 PMID:32216080 PMID:32860008 PMID:32905071 PMID:32993725 PMID:33083013 PMID:33256811 PMID:33304816 PMID:33407246 PMID:33726816 PMID:33752727 PMID:34008892 PMID:34387910 PMID:34405919 PMID:34426522 PMID:34472180 PMID:34542925 PMID:34573925 PMID:34813777 PMID:34828358 PMID:34867278 PMID:35005816 PMID:35094026 PMID:35212421 PMID:35729508 PMID:35782601 PMID:36077388 More...
|
|
NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
|
|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 |
|
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
G |
PIEZO1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 |
|
NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
|
|
G |
TRAPPC2L |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A |
ClinVar |
PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 PMID:10479485 PMID:12442278 PMID:15241807 PMID:16199547 PMID:16287098 PMID:16378744 PMID:17576681 PMID:17876718 PMID:18710657 PMID:21896407 PMID:22078177 PMID:23844448 PMID:23876334 PMID:24120057 PMID:24726177 PMID:25252036 PMID:25545067 PMID:25741868 PMID:26147980 PMID:27317439 PMID:27825773 PMID:28492532 PMID:30809705 PMID:30980944 PMID:34387910 PMID:35729508 More...
|
|
NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854
|
|
|
G |
HYAL1 |
hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase | ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY |
OMIM ClinVar |
PMID:8793927 PMID:9536098 PMID:10339581 PMID:16199547 PMID:17576681 PMID:21559944 PMID:25741868 PMID:27424109 PMID:28492532 PMID:33942374 More...
|
|
NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
|
|
|
G |
CARD14 |
caspase recruitment domain family member 14 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 PMID:11343308 PMID:12490062 PMID:15146460 PMID:18407553 PMID:21061399 PMID:22976768 PMID:22976788 PMID:24816101 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:28492532 PMID:30809705 PMID:31536183 More...
|
|
NCBI chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
|
|
G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 PMID:20301728 PMID:23192343 PMID:24045841 PMID:24550498 PMID:25107912 PMID:25505245 PMID:25741868 PMID:28492532 PMID:34008892 More...
|
|
NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
|
|
G |
IDS |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:18500569 PMID:19573456 PMID:21291454 PMID:21829674 PMID:22976768 PMID:22976778 PMID:24515576 PMID:25741868 PMID:27146977 PMID:27848944 PMID:28492532 PMID:29801497 PMID:31877959 More...
|
|
NCBI chr X:138,493,117...138,520,017
Ensembl chr X:148,912,475...148,946,441
|
|
G |
LOC100988043 |
eukaryotic initiation factor 4A-III |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:28492532 |
|
NCBI chr17:74,221,793...74,233,738
|
|
G |
RNF213 |
ring finger protein 213 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:28492532 |
|
NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
|
|
G |
SGSH |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
OMIM ClinVar |
PMID:5542396 PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9536098 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:11793481 PMID:11903343 PMID:12000360 PMID:12438493 PMID:12490062 PMID:12702166 PMID:15146460 PMID:15542396 PMID:15637719 PMID:15902564 PMID:16174644 PMID:16199547 PMID:17128482 PMID:17576681 PMID:18407553 PMID:19099774 PMID:19383612 PMID:21061399 PMID:21204211 PMID:21228398 PMID:21393040 PMID:21455105 PMID:21671382 PMID:21910976 PMID:21963080 PMID:22002444 PMID:22976768 PMID:22976788 PMID:23084433 PMID:24314109 PMID:24347096 PMID:24576347 PMID:24816101 PMID:24875751 PMID:25113300 PMID:25557439 PMID:25741868 PMID:25807448 PMID:26075876 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:27896117 PMID:28101780 PMID:28283807 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30070758 PMID:30593151 PMID:30809705 PMID:31536183 PMID:31718697 PMID:32036093 PMID:32214227 PMID:32447333 PMID:32581362 PMID:33673364 PMID:34690354 PMID:34813777 PMID:34991944 More...
|
|
NCBI chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
|
|
G |
SLC26A11 |
solute carrier family 26 member 11 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A |
ClinVar |
PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 PMID:10601282 PMID:11182930 PMID:15542396 PMID:21061399 PMID:21910976 PMID:22976768 PMID:24314109 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:30809705 PMID:31536183 More...
|
|
NCBI chr17:74,647,880...74,681,247
Ensembl chr17:80,381,942...80,414,210
|
|
|
G |
COASY |
Coenzyme A synthase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B |
ClinVar |
PMID:28492532 |
|
NCBI chr17:14,750,246...14,754,417
Ensembl chr17:14,973,662...14,977,797
|
|
G |
HSD17B1 |
hydroxysteroid 17-beta dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B |
ClinVar |
PMID:28492532 |
|
NCBI chr17:14,760,856...14,763,584
Ensembl chr17:14,986,814...14,988,820
|
|
G |
MLX |
MAX dimerization protein MLX |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B |
ClinVar |
PMID:28492532 |
|
NCBI chr17:14,743,314...14,749,484
Ensembl chr17:14,967,236...14,972,875
|
|
G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B |
OMIM ClinVar |
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11068184 PMID:11153910 PMID:11286389 PMID:11668611 PMID:11793481 PMID:11836372 PMID:12202988 PMID:14984474 PMID:15300983 PMID:15933803 PMID:16151907 PMID:16199547 PMID:16447797 PMID:17576681 PMID:18218046 PMID:19046346 PMID:20040070 PMID:20138557 PMID:20852935 PMID:21204211 PMID:21685203 PMID:21712855 PMID:21910976 PMID:21937992 PMID:22002444 PMID:22908982 PMID:22976768 PMID:23084433 PMID:23100014 PMID:23380547 PMID:23430803 PMID:23661660 PMID:23667853 PMID:23840811 PMID:24314109 PMID:24347096 PMID:25256447 PMID:25466957 PMID:25520920 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818867 PMID:26075876 PMID:26907177 PMID:27243974 PMID:27590925 PMID:28018442 PMID:28101780 PMID:28306536 PMID:28492532 PMID:28751108 PMID:28836185 PMID:28844463 PMID:29269699 PMID:29606097 PMID:29661560 PMID:29881562 PMID:29979746 PMID:30070758 PMID:30802506 PMID:30809705 PMID:30903511 PMID:31236806 PMID:31319225 PMID:31342580 PMID:31413257 PMID:31536183 PMID:31969655 PMID:32014045 PMID:32056211 PMID:32447333 PMID:32578945 PMID:32883051 PMID:33083013 PMID:33246910 PMID:33550137 PMID:33747789 PMID:33763395 PMID:34349725 PMID:34396902 PMID:34806811 PMID:35005816 PMID:217121855 More...
|
|
NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
|
|
G |
PSMC3IP |
PSMC3 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B |
ClinVar |
PMID:28492532 |
|
NCBI chr17:14,738,205...14,744,215
Ensembl chr17:14,961,602...14,967,639
|
|
|
G |
FNTA |
farnesyltransferase, CAAX box, subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
|
|
G |
HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:17576681 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19763152 PMID:19823584 PMID:20307669 PMID:20583299 PMID:20825431 PMID:21384162 PMID:21910976 PMID:22406018 PMID:23301227 PMID:24767253 PMID:25326635 PMID:25491247 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25859010 PMID:26287674 PMID:26350204 PMID:27243974 PMID:27608171 PMID:27733599 PMID:27827379 PMID:28041643 PMID:28101780 PMID:28397838 PMID:28468868 PMID:28492532 PMID:28981474 PMID:29140481 PMID:29870682 PMID:30809705 PMID:31228227 PMID:31456290 PMID:31536183 PMID:31964843 PMID:32347150 PMID:32581362 PMID:32770643 PMID:33576794 PMID:33578874 PMID:33673364 PMID:33851411 PMID:33879512 PMID:34326763 PMID:34374989 PMID:34580245 PMID:34795310 PMID:34906470 PMID:35848209 More...
|
|
NCBI chr 8:42,388,406...42,448,466
|
|
G |
POMK |
protein O-mannose kinase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C |
ClinVar |
PMID:17033958 PMID:19479962 PMID:28492532 |
|
NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
|
|
|
G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
OMIM ClinVar |
PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 PMID:16199547 PMID:16990043 PMID:17576681 PMID:17998446 PMID:19650410 PMID:19763152 PMID:20232353 PMID:20307669 PMID:22406018 PMID:25640679 PMID:25741868 PMID:27512882 PMID:28492532 PMID:30809705 PMID:34349725 More...
|
|
NCBI chr12:24,164,127...24,209,963
Ensembl chr12:24,667,603...24,712,939
|
|
G |
MOK |
MOK protein kinase |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D |
ClinVar |
PMID:25741868 |
|
NCBI chr14:82,842,769...82,925,263
Ensembl chr14:102,665,543...102,741,546
|
|
|
G |
GLB1 |
galactosidase beta 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B |
OMIM ClinVar |
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10744681 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15791924 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17661814 PMID:17664528 PMID:18353697 PMID:18524657 PMID:18546276 PMID:18571950 PMID:19472408 PMID:19644515 PMID:19763152 PMID:20175788 PMID:20307669 PMID:20409738 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22406018 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23757202 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29396849 PMID:29439846 PMID:29451896 PMID:30138938 PMID:30187681 PMID:30267299 PMID:30408610 PMID:30442161 PMID:30548430 PMID:30555092 PMID:30675867 PMID:30703229 PMID:30809705 PMID:31367523 PMID:31497487 PMID:31761138 PMID:31776384 PMID:31905715 PMID:32005694 PMID:32219518 PMID:32779865 PMID:33083013 PMID:33240792 PMID:33558080 PMID:33673364 PMID:33737400 PMID:34258138 PMID:34426522 PMID:35937492 PMID:36265282 More...
|
|
NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
|
|
G |
TMPPE |
transmembrane protein with metallophosphoesterase domain |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B |
ClinVar |
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:23757202 PMID:25741868 PMID:26646981 PMID:28492532 PMID:29160035 PMID:33558080 PMID:36265282 More...
|
|
NCBI chr 3:33,024,623...33,031,877
|
|
|
G |
ADAMTS5 |
ADAM metallopeptidase with thrombospondin type 1 motif 5 |
|
ISO |
protein:increased expression:intervertebral disk |
RGD |
PMID:23192728 |
RGD:10043113 |
NCBI chr21:13,352,222...13,402,165
Ensembl chr21:26,744,807...26,788,736
|
|
G |
AP3B1 |
adaptor related protein complex 3 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 |
ClinVar |
PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 |
|
NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205
|
|
G |
ARSB |
arylsulfatase B |
treatment susceptibility |
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe |
OMIM ClinVar RGD |
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 PMID:8116615 PMID:8125475 PMID:8144552 PMID:8541342 PMID:8575749 PMID:8651289 PMID:8723688 PMID:8752530 PMID:9536098 PMID:10036316 PMID:10206678 PMID:10738004 PMID:10923267 PMID:11668612 PMID:11802522 PMID:11939792 PMID:14974081 PMID:15000815 PMID:15603718 PMID:15979036 PMID:16199547 PMID:16435196 PMID:16949067 PMID:17161971 PMID:17458871 PMID:17576681 PMID:17643332 PMID:17672828 PMID:18406185 PMID:18486607 PMID:19259130 PMID:19763152 PMID:19968667 PMID:20143913 PMID:20307669 PMID:21514195 PMID:21791831 PMID:21791832 PMID:21813902 PMID:21887218 PMID:21917494 PMID:21930407 PMID:21996138 PMID:22133300 PMID:22406018 PMID:22441840 PMID:22971959 PMID:22976768 PMID:23023219 PMID:23430861 PMID:23458163 PMID:23557332 PMID:23633437 PMID:23657977 PMID:23855929 PMID:23949968 PMID:24033266 PMID:24053568 PMID:24107440 PMID:24221504 PMID:24243352 PMID:24262793 PMID:24373060 PMID:24677745 PMID:24767253 PMID:24798265 PMID:24875751 PMID:25060283 PMID:25190157 PMID:25640679 PMID:25654180 PMID:25741868 PMID:25797215 PMID:26287674 PMID:26450354 PMID:26586959 PMID:26609033 PMID:26909334 PMID:26910003 PMID:26937411 PMID:27797586 PMID:27826022 PMID:28492532 PMID:28552677 PMID:28649537 PMID:28831385 PMID:28858097 PMID:28884960 PMID:28914427 PMID:29202552 PMID:30083803 PMID:30118150 PMID:30524696 PMID:30809705 PMID:30982216 PMID:31009684 PMID:32075597 PMID:32860008 PMID:33163362 PMID:33209960 PMID:33673364 PMID:33985463 PMID:34435740 PMID:34708937 PMID:34813777 PMID:35005816 More...
|
RGD:1599228 RGD:39131283 RGD:631738 |
NCBI chr 5:36,325,581...36,534,371
Ensembl chr 5:36,804,874...37,023,739
|
|
G |
GUSB |
glucuronidase beta |
|
ISO |
ClinVar Annotator: match by term: Maroteaux Lamy syndrome |
ClinVar |
PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 PMID:12403825 PMID:12859417 PMID:19224584 PMID:25741868 PMID:26908836 PMID:28124119 PMID:28492532 PMID:28884947 PMID:29698805 PMID:30413728 PMID:30838730 More...
|
|
NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
|
|
G |
LHFPL2 |
LHFPL tetraspan subfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 |
ClinVar |
PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 |
|
NCBI chr 5:36,663,171...36,825,272
Ensembl chr 5:37,289,046...37,314,043
|
|
G |
SCAMP1 |
secretory carrier membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 |
ClinVar |
PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 |
|
NCBI chr 5:36,829,770...36,951,827
Ensembl chr 5:37,316,593...37,439,785
|
|
G |
TNF |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:21887218 |
RGD:39131283 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
TNFSF11 |
TNF superfamily member 11 |
treatment |
ISO |
|
RGD |
PMID:21887218 |
RGD:39131283 |
NCBI chr13:23,750,835...23,784,740
|
|
|
G |
ARSK |
arylsulfatase family member K |
|
ISO |
ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY |
OMIM ClinVar |
PMID:25741868 PMID:34916232 |
|
NCBI chr 5:19,744,154...19,794,098
Ensembl chr 5:19,890,869...19,939,068
|
|
|
G |
VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27547915 PMID:28013294 PMID:28492532 PMID:31070736 |
|
NCBI chr12:119,831,693...119,868,132
Ensembl chr12:123,201,663...123,236,019
|
|
|
G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple sulfatase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
|
|
G |
SUMF1 |
sulfatase modifying factor 1 |
|
ISO |
OMIM:272200 |
MouseDO |
|
|
NCBI chr 3:4,314,790...4,422,503
Ensembl chr 3:4,415,726...4,523,850
|
|
G |
SUMF2 |
sulfatase modifying factor 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple sulfatase deficiency |
ClinVar |
PMID:12757706 |
|
NCBI chr 7:56,677,230...56,693,639
|
|
|
G |
NEU1 |
neuraminidase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I |
OMIM ClinVar |
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:17576681 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:32453490 PMID:32485644 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34992946 PMID:35036219 More...
|
|
NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
|
|
|
G |
AAGAB |
alpha and gamma adaptin binding protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
|
|
G |
ABHD16B |
abhydrolase domain containing 16B |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,783,486...61,784,895
|
|
G |
ABHD18 |
abhydrolase domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
|
|
NCBI chr 4:120,136,126...120,207,449
Ensembl chr 4:131,439,603...131,509,380
|
|
G |
ADRM1 |
ADRM1 26S proteasome ubiquitin receptor |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:58,667,601...58,673,566
Ensembl chr20:59,985,358...59,991,668
|
|
G |
AP2A2 |
adaptor related protein complex 2 subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:945,170...1,034,860
Ensembl chr11:1,005,473...1,076,652
|
|
G |
APBB1 |
amyloid beta precursor protein binding family B member 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972
|
|
G |
ARFGAP1 |
ADP ribosylation factor GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,656,731...59,674,802
Ensembl chr20:61,197,583...61,214,635
|
|
G |
ARFIP2 |
ADP ribosylation factor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,608,393...6,613,245
Ensembl chr11:6,290,034...6,296,817
|
|
G |
ARFRP1 |
ADP ribosylation factor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,622,386...61,630,949
|
|
G |
ARHGEF10 |
Rho guanine nucleotide exchange factor 10 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:15024724 PMID:28116333 PMID:28492532 |
|
NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917
|
|
G |
ARSG |
arylsulfatase G |
|
ISO |
Lysosomal storage disease, ARSG related |
OMIA |
PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 PMID:20679209 PMID:22689975 PMID:23338040 PMID:24069350 PMID:25135642 PMID:25452429 PMID:27778018 PMID:28860089 PMID:32219101 PMID:37290756 PMID:37341581 More...
|
|
NCBI chr17:62,195,977...62,379,362
Ensembl chr17:67,588,347...67,768,454
|
|
G |
ASCL2 |
achaete-scute family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,305,497...2,308,080
|
|
G |
ATP13A2 |
ATPase cation transporting 13A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism Neuronal ceroid lipofuscinosis, 12 |
CTD OMIA |
PMID:1471473 PMID:1609844 PMID:12061538 PMID:15691038 PMID:15771740 PMID:18004671 PMID:21362476 PMID:22022275 PMID:22847264 PMID:28860089 PMID:30956123 PMID:32219101 PMID:33769611 PMID:37582787 More...
|
|
NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033 Ensembl chr 1:16,986,385...17,006,033
|
|
G |
ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,265,516...29,290,807 Ensembl chr16:29,265,516...29,290,807
|
|
G |
ATXN2L |
ataxin 2 like |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,209,115...29,226,239
|
|
G |
BHLHE23 |
basic helix-loop-helix family member e23 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,385,608...59,392,078
|
|
G |
BIRC7 |
baculoviral IAP repeat containing 7 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
|
|
G |
BRSK2 |
BR serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,424,873...1,495,630
Ensembl chr11:1,473,129...1,521,339
|
|
G |
C16H15orf61 |
chromosome 16 C15orf61 homolog |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,471,604...46,477,100
Ensembl chr15:64,740,039...64,746,144
|
|
G |
C9H11orf21 |
chromosome 9 C11orf21 homolog |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568
|
|
G |
C9H11orf42 |
chromosome 9 C11orf42 homolog |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,338,897...6,345,022
Ensembl chr11:6,021,069...6,027,084
|
|
G |
CALML4 |
calmodulin like 4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,140,272...47,155,700
Ensembl chr15:65,409,732...65,424,852
|
|
G |
CAVIN3 |
caveolae associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,451,364...6,453,206
Ensembl chr11:6,133,656...6,135,485
|
|
G |
CCKBR |
cholecystokinin B receptor |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,393,435...6,405,821
Ensembl chr11:6,075,816...6,088,145
|
|
G |
CD151 |
CD151 molecule (Raph blood group) |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:851,726...857,651
Ensembl chr11:895,802...900,289
|
|
G |
CD19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,320,734...29,327,481
|
|
G |
CD81 |
CD81 molecule |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,400,503...2,421,132
Ensembl chr11:2,437,991...2,449,308
|
|
G |
CDHR5 |
cadherin related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
Ensembl chr11:652,671...659,959
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,908,537...2,911,134
|
|
G |
CEND1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:804,517...807,608
Ensembl chr11:849,678...850,127
|
|
G |
CHID1 |
chitinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:888,660...930,901
Ensembl chr11:929,278...977,082
|
|
G |
CHRNA4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005
|
|
G |
CLCN3 |
chloride voltage-gated channel 3 |
|
ISO |
|
RGD |
PMID:12059962 |
RGD:734783 |
NCBI chr 4:161,838,061...161,943,072
Ensembl chr 4:173,925,474...174,011,681
|
|
G |
CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:15818814 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19135632 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23142271 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32631363 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34906470 PMID:35929194 PMID:36139381 PMID:36909829 More...
|
|
|
|
G |
CLN5 |
CLN5 intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:8001159 PMID:9536098 PMID:9662406 PMID:10528251 PMID:10953198 PMID:11727201 PMID:11971870 PMID:12134079 PMID:12673792 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20127975 PMID:20157158 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21447811 PMID:21990111 PMID:22532218 PMID:22589734 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25525159 PMID:25640679 PMID:25677497 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27553520 PMID:27884173 PMID:28492532 PMID:28542837 PMID:29482223 PMID:29655203 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30394532 PMID:30655561 PMID:30919163 PMID:31069529 PMID:31105743 PMID:31130284 PMID:31406620 PMID:31741823 PMID:32005694 PMID:32393339 PMID:32983231 PMID:34906502 PMID:36339300 More...
|
|
NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
|
|
G |
CLN6 |
CLN6 transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17046213 PMID:17453415 PMID:17576681 PMID:17988881 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:20430023 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:22883287 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25401298 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31741823 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34868216 PMID:35505348 PMID:36435927 More...
|
|
NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
|
|
G |
CLN8 |
CLN8 transmembrane ER and ERGIC protein |
|
ISO |
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:2199011 PMID:9536098 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25806950 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 More...
|
|
NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
|
|
G |
CNGA4 |
cyclic nucleotide gated channel subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,368,768...6,378,976
Ensembl chr11:6,051,091...6,061,550
|
|
G |
COL20A1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,678,028...59,716,822
Ensembl chr20:61,219,950...61,254,432
|
|
G |
COL9A3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,203,959...59,229,221
Ensembl chr20:60,499,089...60,521,871
|
|
G |
CORO2B |
coronin 2B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,536,641...47,685,357
Ensembl chr15:66,370,374...66,452,545
|
|
G |
CRACR2B |
calcium release activated channel regulator 2B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:845,996...850,814
Ensembl chr11:889,575...894,053
|
|
G |
CTSD |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:16685649 PMID:17576681 PMID:18762956 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26059544 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:29373990 PMID:32421885 PMID:33681191 PMID:34331747 More...
|
|
NCBI chr11:1,789,326...1,800,524
|
|
G |
CTSF |
cathepsin F |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
|
|
NCBI chr11:61,922,361...61,927,520
Ensembl chr11:65,246,031...65,250,786
|
|
G |
DEAF1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:652,337...709,854
|
|
G |
DIDO1 |
death inducer-obliterator 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265
|
|
G |
DIS3L |
DIS3 like exosome 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,246,867...45,287,521
Ensembl chr15:63,523,512...63,563,813
|
|
G |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25741868 PMID:25921748 PMID:26467025 PMID:28492532 PMID:29215089 PMID:30866059 PMID:32412666 PMID:32662538 PMID:33179747 PMID:34720963 More...
|
|
Ensembl chr20:61,848,236...61,856,265
|
|
G |
DNHD1 |
dynein heavy chain domain 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,628,568...6,703,994
Ensembl chr11:6,312,254...6,386,993
|
|
G |
DRD4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:640,401...646,775
|
|
G |
DUSP8 |
dual specificity phosphatase 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,592,858...1,611,740
|
|
G |
EDNRB |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
|
|
NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
|
|
G |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,412,122...61,421,735
|
|
G |
EIF3CL |
eukaryotic translation initiation factor 3 subunit C like |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
EPS8L2 |
EPS8 signaling adaptor L2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128
|
|
G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
|
|
NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651
|
|
G |
FEM1B |
fem-1 homolog B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,236,920...47,254,878
Ensembl chr15:66,005,614...66,024,007
|
|
G |
FHIP1B |
FHF complex subunit HOOK interacting protein 1B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,345,227...6,368,675
Ensembl chr11:6,027,300...6,050,850
|
|
G |
FNDC11 |
fibronectin type III domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,481,269...61,482,225
|
|
G |
GATD1 |
glutamine amidotransferase class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:784,569...794,911
Ensembl chr11:833,230...839,421
|
|
G |
GID8 |
GID complex subunit 8 homolog |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,325,193...59,335,588
Ensembl chr20:60,617,762...60,627,792
|
|
G |
GMEB2 |
glucocorticoid modulatory element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,513,870...61,544,993
|
|
G |
GSG1L |
GSG1 like |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
GTF3C1 |
general transcription factor IIIC subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:27,830,280...27,919,020
|
|
G |
HELZ2 |
helicase with zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,483,623...61,498,083
|
|
G |
HPX |
hemopexin |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,558,279...6,572,946
Ensembl chr11:6,246,392...6,256,410
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
HSPA5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:21094208 |
RGD:5686293 |
NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
|
|
G |
IFITM10 |
interferon induced transmembrane protein 10 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,771,296...1,787,042
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
|
|
G |
IL21R |
interleukin 21 receptor |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:27,774,864...27,821,769
|
|
G |
IL27 |
interleukin 27 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
ILK |
integrin linked kinase |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,735,735...6,742,922
Ensembl chr11:6,418,717...6,425,788
|
|
G |
INS |
insulin |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
|
|
G |
IQCH |
IQ motif containing H |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
|
|
G |
IRF7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
Ensembl chr11:647,827...651,314
|
|
G |
ITGA11 |
integrin subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985
|
|
G |
KATNIP |
katanin interacting protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:27,918,816...28,148,543
|
|
G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,469,750...2,874,467
|
|
G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:22748208 PMID:25741868 PMID:25976102 PMID:27742667 PMID:28492532 PMID:30295347 PMID:31130284 More...
|
|
NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
|
|
G |
LAMA5 |
laminin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765
|
|
G |
LAT |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
LCTL |
lactase like |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,495,650...45,514,096
Ensembl chr15:63,769,946...63,787,409
|
|
G |
LIME1 |
Lck interacting transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,661,427...61,662,767
|
|
G |
LMNTD2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:559,779...564,584
Ensembl chr11:588,816...594,794
|
|
G |
LOC100969764 |
sulfotransferase 1A1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
LOC100985441 |
olfactory receptor 52N4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:5,889,038...5,890,166
Ensembl chr11:5,570,553...5,571,518
|
|
G |
LOC100986112 |
olfactory receptor 52N1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:5,922,288...5,923,306
|
|
G |
LOC100987113 |
olfactory receptor 56B1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:5,870,537...5,873,080
|
|
G |
LOC100988141 |
olfactory receptor 52N5 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:5,912,095...5,913,071
Ensembl chr11:5,593,446...5,605,731
|
|
G |
LOC100988476 |
olfactory receptor 56A3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,081,296...6,082,357
Ensembl chr11:5,762,762...5,763,709
|
|
G |
LOC100989488 |
olfactory receptor 56A4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,135,566...6,136,762
Ensembl chr11:5,816,864...5,817,961
|
|
G |
LOC100990509 |
olfactory receptor 52B2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,303,065...6,304,472
|
|
G |
LOC100991181 |
olfactory receptor 52W1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,333,027...6,334,423
Ensembl chr11:6,015,192...6,016,154
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
LSP1 |
lymphocyte specific protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,889,625...1,931,192
Ensembl chr11:1,921,905...1,963,192
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
|
|
G |
MAP2K5 |
mitogen-activated protein kinase kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
|
|
G |
MEGF11 |
multiple EGF like domains 11 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,836,750...45,208,674
Ensembl chr15:63,116,564...63,204,508
|
|
G |
MFSD8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:19201763 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25333361 PMID:25741868 PMID:26075876 PMID:28041643 PMID:28492532 PMID:28586915 PMID:28708303 PMID:31006324 PMID:31741823 PMID:32037395 PMID:32581362 PMID:34910516 PMID:35087090 More...
|
|
NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
|
|
G |
MOB2 |
MOB kinase activator 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,502,429...1,573,145
Ensembl chr11:1,528,134...1,545,668
|
|
G |
MRGBP |
MRG domain binding protein |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,183,842...59,187,982
|
|
G |
MRPL23 |
mitochondrial ribosomal protein L23 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,988,470...1,997,722
Ensembl chr11:2,018,942...2,055,546
|
|
G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
|
|
G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,191,223...1,234,373
|
|
G |
MUC5B |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
|
|
G |
MUC6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927
|
|
G |
MYCBP2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
|
|
NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843
|
|
G |
NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
NKAIN4 |
sodium/potassium transporting ATPase interacting 4 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,623,891...59,637,916
Ensembl chr20:61,162,915...61,171,567
|
|
G |
NTSR1 |
neurotensin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,100,110...59,151,563
Ensembl chr20:60,392,736...60,446,056
|
|
G |
NUPR1 |
nuclear protein 1, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,015,155...29,016,987
|
|
G |
OGFR |
opioid growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,191,791...59,201,149
Ensembl chr20:60,488,962...60,495,228
|
|
G |
PHRF1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:579,487...608,251
Ensembl chr11:616,738...647,496
|
|
G |
PIAS1 |
protein inhibitor of activated STAT 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
|
|
G |
PIDD1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436
|
|
G |
PNPLA2 |
patatin like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
|
|
G |
POLR2L |
RNA polymerase II, I and III subunit L |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:859,015...861,382
|
|
G |
PPDPF |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,446,522...61,447,653
|
|
G |
PPT1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11589012 PMID:12382155 PMID:14997939 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:26707855 PMID:26795593 PMID:28492532 PMID:28878621 PMID:29631617 PMID:30842224 PMID:30952489 PMID:31741823 PMID:33561134 PMID:35217970 More...
|
|
NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
|
|
G |
PPT2 |
palmitoyl-protein thioesterase 2 |
|
ISO |
|
RGD MouseDO |
PMID:11717424 |
RGD:734785 |
NCBI chr 6:31,800,096...31,811,047
Ensembl chr 6:32,680,175...32,695,549
|
|
G |
PRPF6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
Ensembl chr20:61,899,076...61,948,088
|
|
G |
PTK6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,453,386...61,462,951
|
|
G |
RAB11A |
RAB11A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
|
|
G |
RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,289,949...29,314,177
|
|
G |
RASSF7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:561,525...569,852
Ensembl chr11:596,433...598,823
|
|
G |
RBBP8NL |
RBBP8 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:58,794,817...58,812,530
Ensembl chr20:60,095,450...60,112,408
|
|
G |
RPL4 |
ribosomal protein L4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,446,582...45,452,173
Ensembl chr15:63,721,912...63,727,477
|
|
G |
RPLP2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:827,500...830,490
Ensembl chr11:870,709...874,253
|
|
G |
RPS21 |
ribosomal protein S21 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:58,749,013...58,750,899
Ensembl chr20:60,072,483...60,073,962
|
|
G |
RRP8 |
ribosomal RNA processing 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,630,695...6,735,711
Ensembl chr11:6,415,003...6,418,414
|
|
G |
RTEL1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,581,331...61,618,718
|
|
G |
SBK1 |
SH3 domain binding kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
SCEL |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
|
|
NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016
|
|
G |
SCT |
secretin |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:632,073...634,296
|
|
G |
SGF29 |
SAGA complex associated factor 29 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,030,587...29,068,795
|
|
G |
SH2B1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,249,597...29,263,334
|
|
G |
SKOR1 |
SKI family transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,722,712...46,787,689
|
|
G |
SLAIN1 |
SLAIN motif family member 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
|
|
NCBI chr13:58,914,327...58,981,193
|
|
G |
SLC17A9 |
solute carrier family 17 member 9 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,339,779...59,356,396
Ensembl chr20:60,631,969...60,647,278
|
|
G |
SLC25A22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
|
|
G |
SLC2A4RG |
SLC2A4 regulator |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
|
|
G |
SLCO4A1 |
solute carrier organic anion transporter family member 4A1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,030,815...59,076,132
Ensembl chr20:60,339,319...60,355,374
|
|
G |
SMAD3 |
SMAD family member 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
|
|
G |
SMAD6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,521,812...6,526,349
|
|
G |
SNAPC5 |
small nuclear RNA activating complex polypeptide 5 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:12946273 |
RGD:1581253 |
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SPNS1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
|
|
G |
SRMS |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,465,539...61,473,057
|
|
G |
STMN3 |
stathmin 3 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
|
|
G |
SULT1A2 |
sulfotransferase family 1A member 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,068,659...29,077,360
|
|
G |
SYT8 |
synaptotagmin 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,867,572...1,874,115
Ensembl chr11:1,902,554...1,910,084
|
|
G |
TAF10 |
TATA-box binding protein associated factor 10 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,742,862...6,744,260
|
|
G |
TALDO1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744
|
|
G |
TCFL5 |
transcription factor like 5 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,229,243...59,250,033
|
|
G |
TH |
tyrosine hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
|
|
G |
TIMM10B |
translocase of inner mitochondrial membrane 10B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,613,341...6,616,543
Ensembl chr11:6,296,796...6,300,009
|
|
G |
TIPIN |
TIMELESS interacting protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,290,350...45,310,335
Ensembl chr15:63,566,463...63,585,717
|
|
G |
TMEM80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:709,907...719,140
Ensembl chr11:754,169...763,695
|
|
G |
TNNI2 |
troponin I2, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084
|
|
G |
TNNT3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
|
|
G |
TOLLIP |
toll interacting protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
|
|
G |
TPD52L2 |
TPD52 like 2 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,787,310...61,808,876
|
|
G |
TPP1 |
tripeptidyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11339651 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:15965709 PMID:16199547 PMID:16782851 PMID:16814585 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22245569 PMID:22344438 PMID:22612257 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26143525 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27146152 PMID:27407112 PMID:27553520 PMID:28165011 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:29056246 PMID:29631617 PMID:29655203 PMID:29687370 PMID:30119717 PMID:30541466 PMID:30771299 PMID:30792901 PMID:31059981 PMID:31069529 PMID:31122803 PMID:31139143 PMID:31216804 PMID:31283065 PMID:31440721 PMID:31489614 PMID:31589614 PMID:31741823 PMID:32146219 PMID:32329550 PMID:32412666 PMID:33348105 PMID:33377563 PMID:33604240 PMID:34849271 PMID:35314707 PMID:35796208 More...
|
|
NCBI chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
|
|
G |
TRIM22 |
tripartite motif containing 22 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:5,824,176...5,844,990
Ensembl chr11:5,504,864...5,526,730
|
|
G |
TRIM3 |
tripartite motif containing 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,580,491...6,605,854
Ensembl chr11:6,264,376...6,281,033
|
|
G |
TRPM5 |
transient receptor potential cation channel subfamily M member 5 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,428,185...2,448,070
Ensembl chr11:2,456,831...2,475,989
|
|
G |
TSPAN32 |
tetraspanin 32 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,339,941...2,357,049
Ensembl chr11:2,367,674...2,384,209
|
|
G |
TSPAN4 |
tetraspanin 4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:861,598...885,957
Ensembl chr11:905,157...928,480
|
|
G |
TSSC4 |
tumor suppressing subtransferable candidate 4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr11:2,424,217...2,427,602
Ensembl chr11:2,452,388...2,455,772
|
|
G |
TUFM |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:29,227,852...29,233,513
|
|
G |
XPO6 |
exportin 6 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:9311735 PMID:28492532 PMID:28542676 |
|
Ensembl chr16:28,462,546...28,579,109
|
|
G |
YTHDF1 |
YTH N6-methyladenosine RNA binding protein F1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr20:59,575,703...59,596,447
Ensembl chr20:61,116,645...61,135,769
|
|
G |
ZBTB46 |
zinc finger and BTB domain containing 46 |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,667,319...61,713,895
|
|
G |
ZGPAT |
zinc finger CCCH-type and G-patch domain containing |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
Ensembl chr20:61,630,271...61,662,967
|
|
G |
ZNF512B |
zinc finger protein 512B |
|
ISO |
ClinVar Annotator: match by term: Ceroid storage disease |
ClinVar |
PMID:25921748 PMID:28492532 PMID:30866059 |
|
Ensembl chr20:61,879,322...61,885,634
|
|
G |
ZWILCH |
zwilch kinetochore protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,452,382...45,496,780
Ensembl chr15:63,727,562...63,771,213
|
|
|
G |
CLN8 |
CLN8 transmembrane ER and ERGIC protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 |
ClinVar |
PMID:28492532 PMID:29503925 |
|
NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
|
|
G |
FIS1 |
fission, mitochondrial 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
|
|
G |
GFAP |
glial fibrillary acidic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
|
|
G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
|
|
G |
MFN1 |
mitofusin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
|
|
G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
|
|
G |
PPARGC1A |
PPARG coactivator 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
|
|
G |
PPT1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 | ClinVar Annotator: match by term: PPT1-related condition |
OMIM ClinVar |
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10191109 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11520175 PMID:11589012 PMID:11727201 PMID:12125808 PMID:12382155 PMID:12796825 PMID:12855696 PMID:14997939 PMID:15464427 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:17576681 PMID:18414213 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21704547 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24033266 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25640679 PMID:25741868 PMID:26075876 PMID:26275418 PMID:26467025 PMID:26510000 PMID:26707855 PMID:26795593 PMID:28492532 PMID:28559085 PMID:28878621 PMID:29631617 PMID:29655203 PMID:30378543 PMID:30541466 PMID:30842224 PMID:30952489 PMID:31440721 PMID:31741823 PMID:33528079 PMID:33547378 PMID:33561134 PMID:34114234 PMID:34906470 PMID:35217970 PMID:35693655 More...
|
|
NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
|
|
G |
RPS6KB1 |
ribosomal protein S6 kinase B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653
|
|
G |
SIRT1 |
sirtuin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
|
|
G |
SYP |
synaptophysin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr X:41,487,538...41,500,039
Ensembl chr X:49,340,021...49,352,420
|
|
G |
TFAM |
transcription factor A, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21224254 |
|
NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
|
|
|
G |
CTSD |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 |
OMIM ClinVar |
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:33681191 More...
|
|
NCBI chr11:1,789,326...1,800,524
|
|
|
G |
GRN |
granulin precursor |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 |
OMIM ClinVar |
PMID:16862116 PMID:16950801 PMID:17698705 PMID:18192287 PMID:18234697 PMID:18245784 PMID:18392865 PMID:18723524 PMID:19020205 PMID:19158106 PMID:19683260 PMID:20028451 PMID:20045477 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21403024 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22491866 PMID:22608501 PMID:23117491 PMID:25525159 PMID:25546130 PMID:25741868 PMID:26467025 PMID:26652843 PMID:28492532 PMID:29614680 PMID:30279455 PMID:30528841 PMID:31031559 PMID:31122931 PMID:31600775 PMID:32507413 PMID:33203472 PMID:35896380 More...
|
|
NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
|
|
|
G |
CTSF |
cathepsin F |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 PMID:25274848 PMID:25741868 PMID:26467025 PMID:27120077 PMID:27524508 PMID:28492532 More...
|
|
NCBI chr11:61,922,361...61,927,520
Ensembl chr11:65,246,031...65,250,786
|
|
|
G |
MFSD8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 |
ClinVar |
PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:27884173 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:30382371 PMID:31489614 PMID:32399599 PMID:33546218 PMID:34828358 More...
|
|
NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
|
|
G |
TPP1 |
tripeptidyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 |
OMIM ClinVar |
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 PMID:10477428 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11241479 PMID:11339651 PMID:11462245 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:15965709 PMID:16199547 PMID:16782851 PMID:16814585 PMID:16880378 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18414213 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22221116 PMID:22245569 PMID:22344438 PMID:22612257 PMID:22752289 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:24767253 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26026925 PMID:26032578 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27407112 PMID:27553520 PMID:27776828 PMID:28165011 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:28717666 PMID:29056246 PMID:29631617 PMID:29655203 PMID:29687370 PMID:29924869 PMID:30119717 PMID:30541466 PMID:30771299 PMID:30792901 PMID:30831263 PMID:31059981 PMID:31069529 PMID:31122803 PMID:31139143 PMID:31283065 PMID:31489614 PMID:31589614 PMID:31741823 PMID:32005694 PMID:32146219 PMID:32329550 PMID:32412666 PMID:32580858 PMID:32855042 PMID:33348105 PMID:33377563 PMID:33604240 PMID:34126256 PMID:34849271 PMID:35314707 PMID:37922835 More...
|
|
NCBI chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
|
|
|
G |
CLCN3 |
chloride voltage-gated channel 3 |
|
ISO |
OMIM:204200 |
MouseDO |
|
|
NCBI chr 4:161,838,061...161,943,072
Ensembl chr 4:173,925,474...174,011,681
|
|
G |
CLCN6 |
chloride voltage-gated channel 6 |
|
ISO |
OMIM:204200 |
MouseDO |
|
|
NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505
|
|
G |
CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease |
OMIM ClinVar |
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:14699076 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19135632 PMID:19489875 PMID:20187884 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23142271 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:24625443 PMID:24827497 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34906470 PMID:35929194 PMID:36139381 PMID:36909829 More...
|
|
|
|
G |
LOC117978823 |
battenin |
|
ISO |
OMIM:204200 |
MouseDO |
|
|
|
|
G |
PPT1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
OMIM:204200 |
MouseDO |
|
|
NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
|
|
|
G |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B |
OMIM ClinVar |
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 PMID:22978711 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31919451 More...
|
|
Ensembl chr20:61,848,236...61,856,265
|
|
|
G |
CLN5 |
CLN5 intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 |
OMIM ClinVar |
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15207259 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:17607606 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21447811 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25525159 PMID:25677497 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27553520 PMID:27884173 PMID:28492532 PMID:28542837 PMID:29482223 PMID:29655203 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30655561 PMID:30919163 PMID:31105743 PMID:31130284 PMID:31319225 PMID:31493945 PMID:31741823 PMID:32005694 PMID:32302805 PMID:32983231 PMID:34906502 PMID:36339300 More...
|
|
NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
|
|
|
G |
CLN6 |
CLN6 transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 |
OMIM ClinVar |
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17453415 PMID:17576681 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:25359263 PMID:25401298 PMID:25590979 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34868216 PMID:35505348 More...
|
|
NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
|
|
G |
GSK3B |
glycogen synthase kinase 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23516525 |
|
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23516525 |
|
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
|
|
G |
MAPK3 |
mitogen-activated protein kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23516525 |
|
Ensembl chr16:30,489,362...30,498,017
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A |
ClinVar |
PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 PMID:23252888 PMID:23430884 PMID:24767253 PMID:25741868 PMID:26499107 PMID:28492532 More...
|
|
NCBI chr11:6,521,812...6,526,349
|
|
G |
STX6 |
syntaxin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23516525 |
|
NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314
|
|
G |
SYP |
synaptophysin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23516525 |
|
NCBI chr X:41,487,538...41,500,039
Ensembl chr X:49,340,021...49,352,420
|
|
|
G |
CLN6 |
CLN6 transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A |
OMIM ClinVar |
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 PMID:19135028 PMID:19201763 PMID:21549341 PMID:21990111 PMID:25359263 PMID:25741868 PMID:26075876 PMID:26115733 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27903347 PMID:28492532 PMID:30285654 PMID:30561534 PMID:31489614 PMID:33875558 PMID:34868216 PMID:35505348 PMID:36435927 More...
|
|
NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
|
|
|
G |
ABHD18 |
abhydrolase domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
ClinVar |
PMID:19177532 PMID:28492532 |
|
NCBI chr 4:120,136,126...120,207,449
Ensembl chr 4:131,439,603...131,509,380
|
|
G |
HSPA4L |
heat shock protein family A (Hsp70) member 4 like |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
ClinVar |
PMID:19177532 PMID:28492532 |
|
NCBI chr 4:119,946,233...120,004,602
Ensembl chr 4:131,251,354...131,303,499
|
|
G |
INTU |
inturned planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
ClinVar |
PMID:19177532 PMID:28492532 |
|
NCBI chr 4:119,793,245...119,890,949
Ensembl chr 4:131,109,733...131,186,590
|
|
G |
LARP1B |
La ribonucleoprotein 1B |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
ClinVar |
PMID:19177532 PMID:28492532 |
|
NCBI chr 4:120,230,897...120,383,530
Ensembl chr 4:131,533,028...131,678,775
|
|
G |
MFSD8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
OMIM ClinVar |
PMID:9177532 PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 PMID:17576681 PMID:18414213 PMID:18850119 PMID:19177532 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25333361 PMID:25439737 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26681805 PMID:27146152 PMID:27848944 PMID:27884173 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:28708303 PMID:28794409 PMID:29389947 PMID:29655203 PMID:29924869 PMID:30382371 PMID:30548430 PMID:31006324 PMID:31216804 PMID:31489614 PMID:31597037 PMID:31618753 PMID:31721179 PMID:31741823 PMID:32005694 PMID:32037395 PMID:32399599 PMID:32581362 PMID:33084218 PMID:33546218 PMID:34828358 PMID:34910516 PMID:35087090 More...
|
|
NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
|
|
G |
PLK4 |
polo like kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
ClinVar |
PMID:19177532 PMID:28492532 |
|
NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
|
|
G |
SLC25A31 |
solute carrier family 25 member 31 |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 |
ClinVar |
PMID:19177532 PMID:28492532 |
|
NCBI chr 4:119,894,274...119,938,168
Ensembl chr 4:131,200,402...131,243,952
|
|
|
G |
CLN8 |
CLN8 transmembrane ER and ERGIC protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 |
OMIM ClinVar |
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 More...
|
|
NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
|
|
|
G |
CLN8 |
CLN8 transmembrane ER and ERGIC protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
OMIM ClinVar |
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:23374165 PMID:25326637 PMID:25741868 PMID:26075876 PMID:26467025 PMID:27884173 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29961513 PMID:31741823 PMID:32348865 PMID:36011304 PMID:36912596 More...
|
|
NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
|
|
|
G |
PNPLA2 |
patatin like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:35460704 |
|
NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
|
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
protein:increased expression:cerebellum: |
RGD |
PMID:20883783 |
RGD:8693571 |
NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
|
MouseDO |
|
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
G |
NPC2 |
NPC intracellular cholesterol transporter 2 |
|
ISO |
DNA:mutation:multiple |
RGD MouseDO |
PMID:11567215 |
RGD:1601483 |
NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
susceptibility |
ISO |
Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease |
RGD ClinVar |
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12556236 PMID:15221801 PMID:18815062 PMID:25741868 PMID:27338287 PMID:27725636 PMID:28492532 PMID:31965297 PMID:32292456 More...
|
RGD:1601336 |
NCBI chr11:6,521,812...6,526,349
|
|
|
G |
APBB1 |
amyloid beta precursor protein binding family B member 1 |
|
ISO |
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis |
ClinVar |
PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
|
|
NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972
|
|
G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
disease_progression |
ISO |
protein:decreased expression:cerebellum (mouse) |
RGD |
PMID:16277603 |
RGD:6482797 |
NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis |
ClinVar |
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526 More...
|
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis |
OMIM ClinVar |
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15612058 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25301364 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32280632 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34554397 PMID:34867278 PMID:35342016 PMID:35747619 PMID:35883096 PMID:36195244 More...
|
|
NCBI chr11:6,521,812...6,526,349
|
|
|
G |
APBB1 |
amyloid beta precursor protein binding family B member 1 |
|
ISO |
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis |
ClinVar |
PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
|
|
NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972
|
|
G |
BRIP1 |
BRCA1 interacting helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type B |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29485843 |
|
NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis |
ClinVar |
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526 More...
|
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis |
OMIM ClinVar |
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8225311 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:9536098 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12694237 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17576681 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23724191 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24643943 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26084044 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34554397 PMID:34660203 PMID:34867278 PMID:35747619 More...
|
|
NCBI chr11:6,521,812...6,526,349
|
|
|
G |
ABHD3 |
abhydrolase domain containing 3, phospholipase |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:14,888,915...14,944,295
Ensembl chr18:18,527,364...18,578,736
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:18591368 |
RGD:10047095 |
NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
|
|
G |
ACYP1 |
acylphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
|
|
NCBI chr14:55,604,853...55,621,133
|
|
G |
ANKRD29 |
ankyrin repeat domain 29 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,850,341...16,914,767
Ensembl chr18:20,475,728...20,539,300
|
|
G |
CABLES1 |
Cdk5 and Abl enzyme substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,384,305...16,508,915
|
|
G |
CTAGE1 |
cutaneous T cell lymphoma-associated antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:15,656,824...15,659,668
|
|
G |
ESCO1 |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:14,767,377...14,839,978
|
|
G |
GATA6 |
GATA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:15,411,764...15,444,402
|
|
G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335
|
|
G |
JAK2 |
Janus kinase 2 |
treatment |
ISO |
|
RGD |
PMID:21176403 |
RGD:10403054 |
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
|
|
G |
LAMA3 |
laminin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,941,316...17,208,363
Ensembl chr18:20,565,649...20,831,957
|
|
G |
LIPA |
lipase A, lysosomal acid type |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20557099 |
|
NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
|
|
G |
MIB1 |
MIB E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form |
OMIM ClinVar |
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 PMID:9211850 PMID:9245994 PMID:9536098 PMID:9634529 PMID:9744920 PMID:9927649 PMID:10419504 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11182931 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11545687 PMID:11754101 PMID:12205649 PMID:12401890 PMID:12408188 PMID:12554680 PMID:12719428 PMID:12813037 PMID:12955717 PMID:12974729 PMID:14639697 PMID:14970192 PMID:15130691 PMID:15347664 PMID:15459971 PMID:15465421 PMID:15596783 PMID:15774455 PMID:15937921 PMID:16086131 PMID:16098014 PMID:16126423 PMID:16138904 PMID:16143556 PMID:16199547 PMID:16720792 PMID:16778374 PMID:16802107 PMID:17003072 PMID:17160617 PMID:17576681 PMID:17973331 PMID:17989072 PMID:18081003 PMID:18216017 PMID:19013089 PMID:19206179 PMID:19223215 PMID:19252935 PMID:19307542 PMID:19563754 PMID:19609713 PMID:19718781 PMID:19744920 PMID:19900398 PMID:20301473 PMID:20489167 PMID:20521171 PMID:20554533 PMID:20718790 PMID:20826119 PMID:20882348 PMID:20981092 PMID:21245028 PMID:21436030 PMID:21550990 PMID:22065762 PMID:22269206 PMID:22326530 PMID:22476655 PMID:22505584 PMID:22676771 PMID:22704015 PMID:22750297 PMID:22995991 PMID:23142039 PMID:23146215 PMID:23183285 PMID:23427322 PMID:23430855 PMID:23433426 PMID:23453666 PMID:23487299 PMID:23593294 PMID:23597521 PMID:23653225 PMID:23685560 PMID:23711246 PMID:23757202 PMID:23773996 PMID:23774949 PMID:23791518 PMID:23821321 PMID:24001525 PMID:24033266 PMID:24035292 PMID:24178705 PMID:24386122 PMID:24506780 PMID:24570279 PMID:24676439 PMID:24767253 PMID:24891511 PMID:24915861 PMID:24928400 PMID:25071864 PMID:25131710 PMID:25149939 PMID:25236789 PMID:25238906 PMID:25239094 PMID:25326635 PMID:25326637 PMID:25349751 PMID:25425405 PMID:25497598 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25764212 PMID:25873482 PMID:25888393 PMID:25989649 PMID:26019327 PMID:26108224 PMID:26206375 PMID:26255038 PMID:26284228 PMID:26338816 PMID:26467025 PMID:26666848 PMID:26771826 PMID:26788393 PMID:26790753 PMID:26830282 PMID:26910362 PMID:26937389 PMID:26939636 PMID:26981555 PMID:26984608 PMID:27016452 PMID:27139891 PMID:27193329 PMID:27234403 PMID:27238017 PMID:27250337 PMID:27256227 PMID:27288778 PMID:27366019 PMID:27378690 PMID:27528516 PMID:27549128 PMID:27550898 PMID:27581084 PMID:27599728 PMID:27706244 PMID:27792009 PMID:27900365 PMID:27923633 PMID:27928380 PMID:27959697 PMID:28105569 PMID:28130309 PMID:28155026 PMID:28167839 PMID:28193631 PMID:28222799 PMID:28328115 PMID:28387450 PMID:28413817 PMID:28472934 PMID:28480683 PMID:28492532 PMID:28666962 PMID:28703315 PMID:28710748 PMID:28776642 PMID:28784760 PMID:28802248 PMID:28808920 PMID:28865947 PMID:28883878 PMID:29100954 PMID:29165669 PMID:29197565 PMID:29429782 PMID:29453517 PMID:29476731 PMID:29631617 PMID:29971198 PMID:30019023 PMID:30119649 PMID:30153451 PMID:30202070 PMID:30285904 PMID:30487145 PMID:30552426 PMID:30556376 PMID:30609409 PMID:30633340 PMID:30665703 PMID:30737051 PMID:30820861 PMID:30923329 PMID:30985853 PMID:31130284 PMID:31139477 PMID:31296176 PMID:31497485 PMID:31543266 PMID:31589614 PMID:31635081 PMID:31639011 PMID:31699992 PMID:31743419 PMID:31754021 PMID:31980526 PMID:32060698 PMID:32138288 PMID:32144825 PMID:32222928 PMID:32248828 PMID:32289814 PMID:32317543 PMID:32482919 PMID:32488064 PMID:32544384 PMID:32709131 PMID:32732226 PMID:32745579 PMID:32860008 PMID:32921771 PMID:32931663 PMID:33021976 PMID:33027564 PMID:33099109 PMID:33138774 PMID:33139814 PMID:33163944 PMID:33258288 PMID:33624863 PMID:33947371 PMID:33990640 PMID:34023347 PMID:34296265 PMID:34303826 PMID:34489640 PMID:34712575 PMID:35038048 PMID:35086560 PMID:35861376 PMID:35892469 PMID:36007526 PMID:36325261 PMID:37032242 More...
|
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
G |
NPC2 |
NPC intracellular cholesterol transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16757520 PMID:17470133 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26666848 PMID:26981555 PMID:27792009 PMID:28095804 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
|
|
NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628
|
|
G |
RBBP8 |
RB binding protein 8, endonuclease |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
|
|
G |
RIOK3 |
RIO kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,703,893...16,734,160
Ensembl chr18:20,331,222...20,360,825
|
|
G |
RMC1 |
regulator of MON1-CCZ1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,754,469...16,783,381
Ensembl chr18:20,380,579...20,409,314
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:18815062 PMID:25741868 PMID:26499107 PMID:27243974 PMID:27338287 PMID:27725636 PMID:28492532 PMID:31965297 PMID:32292456 More...
|
|
NCBI chr11:6,521,812...6,526,349
|
|
G |
SNRPD1 |
small nuclear ribonucleoprotein D1 polypeptide |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:14,851,041...14,869,042
Ensembl chr18:18,488,929...18,506,284
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
treatment |
ISO |
|
RGD |
PMID:21176403 |
RGD:10403054 |
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
|
|
G |
SYNDIG1L |
synapse differentiation inducing 1 like |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
|
|
NCBI chr14:54,957,901...54,978,582
Ensembl chr14:73,805,990...73,826,055
|
|
G |
TMEM241 |
transmembrane protein 241 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C1 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:16,464,723...16,689,144
Ensembl chr18:20,173,513...20,316,638
|
|
|
G |
ACYP1 |
acylphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 |
ClinVar |
PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25558065 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
|
|
NCBI chr14:55,604,853...55,621,133
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 |
ClinVar |
PMID:25741868 |
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
G |
NPC2 |
NPC intracellular cholesterol transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 |
OMIM ClinVar |
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16167124 PMID:16199547 PMID:16757520 PMID:17470133 PMID:17576681 PMID:18081003 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24082139 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26206375 PMID:26338816 PMID:26666848 PMID:26981555 PMID:27271431 PMID:27792009 PMID:28095804 PMID:28105569 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
|
|
NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628
|
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-Pick disease, type D |
ClinVar OMIM |
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 PMID:16126423 PMID:16778374 PMID:20301473 PMID:20718790 PMID:25741868 PMID:26666848 PMID:26984608 PMID:28222799 PMID:28492532 More...
|
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
|
G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral |
ClinVar |
PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23420949 PMID:23430949 PMID:25741868 PMID:26981555 PMID:28492532 PMID:28703315 More...
|
|
NCBI chr11:6,521,812...6,526,349
|
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:27639593 |
RGD:14995335 |
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
|
|
G |
CREB1 |
cAMP responsive element binding protein 1 |
treatment |
ISO |
|
RGD |
PMID:28770225 |
RGD:401940144 |
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
|
|
G |
GGT1 |
gamma-glutamyltransferase 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:23730648 |
RGD:14747013 |
NCBI chr22:5,424,334...5,469,705
|
|
G |
GPT |
glutamic--pyruvic transaminase |
|
ISO |
protein:increased expression:liver,serum |
RGD |
PMID:18710424 |
RGD:14975250 |
Ensembl chr 8:144,259,991...144,263,737
|
|
G |
GPT2 |
glutamic--pyruvic transaminase 2 |
|
ISO |
protein:increased expression:liver,serum |
RGD |
PMID:18710424 |
RGD:14975250 |
NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
|
|
G |
HTR2A |
5-hydroxytryptamine receptor 2A |
|
ISO |
associated with morbid obesity;mRNA:decreased expression:liver |
RGD |
PMID:33081272 |
RGD:401900305 |
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
|
|
G |
HTR2B |
5-hydroxytryptamine receptor 2B |
|
ISO |
associated with morbid obesity;mRNA:decreased expression:liver |
RGD |
PMID:33081272 |
RGD:401900305 |
NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
severity susceptibility |
ISO |
|
RGD |
PMID:29861476 PMID:31064654 |
RGD:14985251 RGD:14985252 |
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
NGF |
nerve growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22434756 |
RGD:401976546 |
NCBI chr 1:87,223,597...87,276,759
|
|
G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
severity |
ISO |
cholic acid fed FXR-/- mouse |
RGD |
PMID:12971955 |
RGD:15045573 |
NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
|
|
|
G |
FCGR2B |
Fc gamma receptor IIb |
|
ISO |
mRNA:increased expression:heart, blood |
RGD |
PMID:25580480 |
RGD:11344961 |
NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
|
|
|
G |
ARSA |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency |
ClinVar |
PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:28670130 More...
|
|
NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
|
|
|
G |
CTSK |
cathepsin K |
|
ISO |
ClinVar Annotator: match by term: Pyknodysostosis |
OMIM ClinVar |
PMID:7663522 PMID:8703060 PMID:8938428 PMID:9529353 PMID:10074491 PMID:10491211 PMID:10571690 PMID:10634420 PMID:10878663 PMID:11181082 PMID:12125807 PMID:12874701 PMID:15070910 PMID:16199547 PMID:17206399 PMID:17397052 PMID:19674475 PMID:20044043 PMID:20814951 PMID:21099701 PMID:21217630 PMID:21569238 PMID:22822386 PMID:23506830 PMID:23786531 PMID:24057333 PMID:24269275 PMID:24767306 PMID:25725806 PMID:25741868 PMID:26892377 PMID:27092432 PMID:27558267 PMID:28492532 PMID:29441215 PMID:29620724 PMID:29796728 PMID:30199612 PMID:31237352 PMID:31944631 PMID:33945887 PMID:33963797 More...
|
|
NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
associated with Dwarfism; |
RGD |
PMID:11474477 |
RGD:8548826 |
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
|
|
|
G |
STX3 |
syntaxin 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease |
OMIM ClinVar |
|
|
NCBI chr11:54,976,575...55,027,638
Ensembl chr11:58,426,894...58,476,417
|
|
|
G |
ALB |
albumin |
treatment |
ISO |
|
RGD |
PMID:25162205 |
RGD:14694843 |
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
|
|
G |
LOC100971374 |
thioredoxin-interacting protein |
|
ISO |
|
MouseDO |
|
|
NCBI chr 1:90,007,878...90,012,055
|
|
|
G |
ANKDD1B |
ankyrin repeat and death domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:39,631,584...39,689,888
Ensembl chr 5:40,246,540...40,300,787
|
|
G |
ANKRD31 |
ankyrin repeat domain 31 |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:40,060,599...40,236,468
Ensembl chr 5:40,673,567...40,849,519
|
|
G |
CERT1 |
ceramide transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:39,788,858...39,927,626
Ensembl chr 5:40,400,900...40,539,921
|
|
G |
FAM169A |
family with sequence similarity 169 member A |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:40,440,291...40,533,018
Ensembl chr 5:41,053,754...41,143,534
|
|
G |
GCNT4 |
glucosaminyl (N-acetyl) transferase 4 |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:40,249,346...40,279,559
|
|
G |
GFM2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:7550345 PMID:18758829 PMID:28492532 |
|
NCBI chr 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297
|
|
G |
HEXB |
hexosaminidase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease |
OMIM ClinVar |
PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1390948 PMID:1487253 PMID:1531140 PMID:1532910 PMID:1720305 PMID:1723749 PMID:1975561 PMID:2139865 PMID:2147027 PMID:2147031 PMID:2170400 PMID:2522450 PMID:2921040 PMID:2948136 PMID:2973515 PMID:3014997 PMID:3156493 PMID:7550345 PMID:7557963 PMID:7633435 PMID:8045559 PMID:8076944 PMID:8106452 PMID:8162015 PMID:8357844 PMID:8593535 PMID:8950198 PMID:9401004 PMID:9475608 PMID:9536098 PMID:9562328 PMID:9694901 PMID:10982028 PMID:11329289 PMID:11897243 PMID:12027830 PMID:12166653 PMID:12706724 PMID:14724290 PMID:16169011 PMID:16199547 PMID:17015493 PMID:17237499 PMID:17576681 PMID:18484607 PMID:18758829 PMID:19595619 PMID:19763152 PMID:19823769 PMID:19881469 PMID:19898952 PMID:20301515 PMID:20307669 PMID:20798201 PMID:20926324 PMID:21150067 PMID:21483992 PMID:21567908 PMID:22191674 PMID:22406018 PMID:22789865 PMID:22848519 PMID:23010210 PMID:23046579 PMID:23113155 PMID:23127958 PMID:23158871 PMID:23418865 PMID:23759947 PMID:24022928 PMID:24033266 PMID:24082139 PMID:24263030 PMID:24356898 PMID:24461908 PMID:24503148 PMID:24613245 PMID:24915922 PMID:25525159 PMID:25640679 PMID:25736553 PMID:25741868 PMID:26582265 PMID:27021291 PMID:27142713 PMID:27435318 PMID:27629047 PMID:27682710 PMID:27697305 PMID:28281504 PMID:28476546 PMID:28492532 PMID:28895707 PMID:29448188 PMID:29451896 PMID:30065954 PMID:30075786 PMID:30548430 PMID:31319225 PMID:31367523 PMID:31589614 PMID:31852446 PMID:31974414 PMID:31995250 PMID:32036093 PMID:32860008 PMID:33176815 PMID:33407268 PMID:33673364 PMID:33742171 PMID:33824075 PMID:34210542 PMID:34226107 PMID:34856081 PMID:35186388 PMID:35711818 PMID:36407556 PMID:36628841 More...
|
|
NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
|
|
G |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
|
|
G |
NSA2 |
NSA2 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:40,533,839...40,543,510
Ensembl chr 5:41,144,290...41,154,117
|
|
G |
POC5 |
POC5 centriolar protein |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:39,587,659...39,631,472
Ensembl chr 5:40,205,697...40,244,182
|
|
G |
POLK |
DNA polymerase kappa |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003
|
|
|
G |
HEXB |
hexosaminidase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease, adult type |
ClinVar |
PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 PMID:7557963 PMID:8357844 PMID:8950198 PMID:9562328 PMID:12027830 PMID:12166653 PMID:17237499 PMID:17251047 PMID:20798201 PMID:20926324 PMID:21150067 PMID:22789865 PMID:23010210 PMID:23127958 PMID:23759947 PMID:24263030 PMID:25736553 PMID:25741868 PMID:28492532 PMID:29448188 More...
|
|
NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
|
|
|
G |
ENC1 |
ectodermal-neural cortex 1 |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease, infantile type |
ClinVar |
PMID:7633435 |
|
NCBI chr 5:40,668,899...40,682,887
Ensembl chr 5:41,281,115...41,282,884
|
|
G |
HEXB |
hexosaminidase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease, infantile type |
ClinVar |
PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 PMID:10982028 PMID:18484607 PMID:18758829 PMID:19823769 PMID:19881469 PMID:20301515 PMID:21483992 PMID:23010210 PMID:23046579 PMID:24613245 PMID:25741868 PMID:26582265 PMID:28492532 PMID:29448188 More...
|
|
NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
|
|
|
G |
HEXB |
hexosaminidase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Sandhoff disease, juvenile type |
ClinVar |
PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 PMID:2147031 PMID:2170400 PMID:2522450 PMID:3014997 PMID:7557963 PMID:8106452 PMID:17015493 PMID:17237499 PMID:20798201 PMID:21150067 PMID:22789865 PMID:23127958 PMID:24263030 PMID:24915922 PMID:25736553 PMID:25741868 PMID:27021291 PMID:27142713 PMID:28492532 PMID:29448188 More...
|
|
NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
|
|
|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome |
OMIM ClinVar |
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8318992 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10607946 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16435195 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21639919 PMID:21831683 PMID:22074387 PMID:22306676 PMID:22976768 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25741868 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27511503 PMID:27896125 PMID:28492532 PMID:28676128 PMID:28752568 PMID:29120458 PMID:29393969 PMID:29654546 PMID:30809705 PMID:31194252 PMID:31319225 PMID:32188113 PMID:33073008 PMID:33517895 PMID:35141277 More...
|
|
NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
|
|
G |
SLC26A1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome |
ClinVar |
PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8401515 PMID:8664897 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15862278 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22306676 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:25741868 PMID:27896125 PMID:28492532 PMID:28752568 PMID:29393969 More...
|
|
NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
|
|
|
G |
NAGA |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency |
ClinVar |
PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 PMID:7707696 PMID:8040340 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 PMID:14685826 PMID:17171432 PMID:19683538 PMID:23045655 PMID:24033266 PMID:25741868 PMID:27138754 PMID:28492532 PMID:29431110 PMID:30487145 PMID:31980526 PMID:32860008 PMID:34670123 More...
|
|
NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
|
|
|
G |
NAGA |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 |
OMIM ClinVar |
PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 PMID:7707696 PMID:8040340 PMID:8071745 PMID:8782044 PMID:9536098 PMID:11251574 PMID:11313741 PMID:14685826 PMID:16199547 PMID:17171432 PMID:17576681 PMID:18414213 PMID:19683538 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23045655 PMID:24033266 PMID:24767253 PMID:25741868 PMID:27138754 PMID:28252636 PMID:28492532 PMID:29431110 PMID:30487145 PMID:31980526 PMID:32860008 PMID:34670123 PMID:34867278 More...
|
|
NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
|
|
G |
WBP2NL |
WBP2 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 |
ClinVar |
|
|
NCBI chr22:22,891,166...22,926,920
Ensembl chr22:40,974,715...41,004,007
|
|
|
G |
NAGA |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 |
ClinVar |
PMID:2372288 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 PMID:23045655 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31980526 PMID:34670123 More...
|
|
NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
|
|
|
G |
APOE |
apolipoprotein E |
|
ISO |
ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis |
ClinVar OMIM |
PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
|
|
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
|
|
|
G |
CGAS |
cyclic GMP-AMP synthase |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,252,050...71,279,121
Ensembl chr 6:74,544,251...74,566,965
|
|
G |
DDX43 |
DEAD-box helicase 43 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,220,471...71,244,509
Ensembl chr 6:74,511,523...74,534,350
|
|
G |
DPPA5 |
developmental pluripotency associated 5 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,179,154...71,181,220
Ensembl chr 6:74,468,084...74,469,296
|
|
G |
EEF1A1 |
eukaryotic translation elongation factor 1 alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,342,291...71,346,033
Ensembl chr 6:74,629,688...74,633,754
|
|
G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type |
OMIM ClinVar |
PMID:2443758 PMID:2808337 PMID:8439453 PMID:9536098 PMID:10330343 PMID:10356312 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:17576681 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301343 PMID:20301439 PMID:21294420 PMID:21436238 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:22507750 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23549799 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25002140 PMID:25123033 PMID:25182749 PMID:25590979 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 More...
|
|
NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
|
|
G |
KCNQ5 |
potassium voltage-gated channel subfamily Q member 5 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:70,448,161...71,025,173
Ensembl chr 6:73,742,191...74,312,344
|
|
G |
KHDC1 |
KH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,067,706...71,136,280
Ensembl chr 6:74,358,175...74,424,562
|
|
G |
KHDC1L |
KH domain containing 1 like |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,049,965...71,089,548
Ensembl chr 6:74,340,775...74,342,371
|
|
G |
KHDC3L |
KH domain containing 3 like, subcortical maternal complex member |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826
|
|
G |
MTO1 |
mitochondrial tRNA translation optimization 1 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567
|
|
G |
OOEP |
oocyte expressed protein |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:71,195,619...71,197,040
Ensembl chr 6:74,484,764...74,511,331
|
|
G |
RIMS1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Salla disease |
ClinVar |
PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 |
|
NCBI chr 6:69,714,807...70,231,260
Ensembl chr 6:73,008,176...73,523,422
|
|
G |
SLC17A5 |
solute carrier family 17 member 5 |
|
ISO |
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type |
OMIM ClinVar |
PMID:2010546 PMID:2334213 PMID:9536098 PMID:10069709 PMID:10546100 PMID:10581036 PMID:10947946 PMID:11992753 PMID:12121352 PMID:12359136 PMID:12592494 PMID:12637289 PMID:12709150 PMID:12794687 PMID:12794688 PMID:15172001 PMID:15172005 PMID:15510212 PMID:15516337 PMID:15805149 PMID:16170568 PMID:16199547 PMID:16715535 PMID:17576681 PMID:17933575 PMID:18399798 PMID:18695252 PMID:19557856 PMID:19763152 PMID:20101035 PMID:20301643 PMID:20307669 PMID:21781115 PMID:22406018 PMID:23900835 PMID:24767253 PMID:24993898 PMID:25085675 PMID:25525159 PMID:25640679 PMID:25741868 PMID:27848944 PMID:28166811 PMID:28492532 PMID:28662915 PMID:28771251 PMID:29140481 PMID:29654786 PMID:30243016 PMID:31130284 PMID:34979677 PMID:35322241 More...
|
|
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
|
|
|
G |
FITM2 |
fat storage inducing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Siddiqi syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 |
|
NCBI chr20:40,633,898...40,642,300
Ensembl chr20:41,730,346...41,735,389
|
|
|
G |
ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
|
ISO |
ClinVar Annotator: match by term: Sjögren-Larsson syndrome |
OMIM ClinVar |
PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 PMID:9536098 PMID:9829906 PMID:10384396 PMID:10577908 PMID:10792573 PMID:10854114 PMID:11408337 PMID:15241804 PMID:15931689 PMID:16199547 PMID:16536828 PMID:16546179 PMID:16837225 PMID:16903323 PMID:17576681 PMID:17902024 PMID:17971613 PMID:17998529 PMID:18035827 PMID:19124283 PMID:19197545 PMID:19965611 PMID:20049467 PMID:21531120 PMID:21872273 PMID:21968182 PMID:22397046 PMID:23034980 PMID:23450279 PMID:24033266 PMID:25047030 PMID:25532748 PMID:25741868 PMID:25855245 PMID:27717089 PMID:28025403 PMID:28257279 PMID:28471629 PMID:28492532 PMID:29071827 PMID:29130490 PMID:29159939 PMID:29183715 PMID:29704247 PMID:30157790 PMID:30372562 PMID:30925032 PMID:31273323 PMID:31953843 PMID:32005694 PMID:32506993 More...
|
|
NCBI chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102
|
|
G |
LOC100975309 |
keratin, type I cytoskeletal 14 |
|
ISO |
ClinVar Annotator: match by term: Sjögren-Larsson syndrome |
ClinVar |
PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
|
|
NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
|
|
|
G |
ASL |
argininosuccinate lyase |
|
ISO |
ClinVar Annotator: match by term: Sly syndrome |
ClinVar |
PMID:19224584 PMID:28492532 |
|
NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472 Ensembl chr 7:73,142,842...73,157,472 Ensembl chr 7:73,142,842...73,157,472
|
|
G |
GUSB |
glucuronidase beta |
|
ISO |
ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome |
OMIM ClinVar |
PMID:144057 PMID:1702266 PMID:1779626 PMID:1833732 PMID:1992472 PMID:2115490 PMID:6811712 PMID:7573038 PMID:7633414 PMID:7633417 PMID:7680524 PMID:8089138 PMID:8111412 PMID:8111413 PMID:8644704 PMID:8707294 PMID:9099834 PMID:9224584 PMID:9490302 PMID:9536098 PMID:9742570 PMID:9921904 PMID:11226217 PMID:12403825 PMID:12522561 PMID:12859417 PMID:14711113 PMID:16199547 PMID:16546179 PMID:17576681 PMID:19224584 PMID:21504867 PMID:23777470 PMID:24033266 PMID:24260279 PMID:25741868 PMID:26036949 PMID:26415878 PMID:26908836 PMID:28124119 PMID:28492532 PMID:28595941 PMID:28884947 PMID:29620724 PMID:29698805 PMID:30076350 PMID:30410095 PMID:30413728 PMID:30442200 PMID:30653816 PMID:30838730 PMID:31130284 PMID:31497474 PMID:33686258 PMID:33897756 PMID:34302381 More...
|
|
NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
|
|
|
G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
susceptibility |
ISO |
|
RGD |
PMID:11241842 |
RGD:734977 |
NCBI chr 8:17,272,632...17,300,902
|
|
G |
SUMF1 |
sulfatase modifying factor 1 |
|
ISO |
Multiple Sulfatase Deficiency Disease |
RGD |
PMID:12757705 |
RGD:1599192 |
NCBI chr 3:4,314,790...4,422,503
Ensembl chr 3:4,415,726...4,523,850
|
|
|
G |
ABCA1 |
ATP binding cassette subfamily A member 1 |
treatment |
ISO |
associated with adult growth hormone deficiency |
RGD |
PMID:15995177 PMID:26362727 PMID:30130150 |
RGD:1598534 RGD:18936993 RGD:21408552 |
NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
|
|
G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
|
ISO |
|
RGD |
PMID:16139386 |
RGD:1598602 |
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
|
|
G |
ABCC3 |
ATP binding cassette subfamily C member 3 |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:17640958 |
RGD:2301064 |
Ensembl chr17:49,603,268...49,659,318
|
|
G |
ACACA |
acetyl-CoA carboxylase alpha |
|
ISO |
|
RGD |
PMID:16485039 |
RGD:1625727 |
NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
|
|
G |
ACACB |
acetyl-CoA carboxylase beta |
|
ISO |
|
RGD |
PMID:16485039 |
RGD:1625727 |
NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
|
|
G |
ACAT1 |
acetyl-CoA acetyltransferase 1 |
treatment |
ISO |
|
RGD |
PMID:27813192 |
RGD:401842386 |
NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
|
|
G |
ACOX1 |
acyl-CoA oxidase 1 |
treatment |
ISO |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
|
|
G |
ADIPOQ |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:increased expression:plasma associated with hepatitis C;protein:increased expression:serum |
RGD |
PMID:16115302 PMID:17006986 PMID:20714777 |
RGD:1599139 RGD:5686674 RGD:5686883 |
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
|
|
G |
ADIPOR2 |
adiponectin receptor 2 |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19076162 PMID:30225267 |
RGD:21406435 RGD:2307264 |
NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
|
|
G |
ADK |
adenosine kinase |
|
ISO |
OMIM:228100 |
MouseDO |
|
|
NCBI chr10:70,672,967...71,236,950
Ensembl chr10:73,342,900...73,902,490
|
|
G |
ADRB2 |
adrenoceptor beta 2 |
|
ISO |
|
RGD |
PMID:11718682 |
RGD:1559320 |
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32045588 |
|
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
|
|
G |
ALPL |
alkaline phosphatase, biomineralization associated |
|
ISO |
associated with obesity |
RGD |
PMID:16197789 |
RGD:1601177 |
NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
|
|
G |
ANGPTL4 |
angiopoietin like 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15837923 PMID:28842503 |
RGD:1625354 |
NCBI chr19:7,649,429...7,660,154
Ensembl chr19:8,499,858...8,510,148
|
|
G |
APOA1 |
apolipoprotein A1 |
treatment |
ISO |
|
RGD |
PMID:30231880 |
RGD:25671436 |
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
|
|
G |
APOB |
apolipoprotein B |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver |
CTD RGD |
PMID:12048068 PMID:17203948 PMID:17303181 |
RGD:2325770 |
NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
|
|
G |
APOE |
apolipoprotein E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:29459263 PMID:32853627 |
RGD:13703129 |
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
|
|
G |
ATF4 |
activating transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
|
NCBI chr22:20,426,743...20,428,892
Ensembl chr22:38,248,094...38,249,249
|
|
G |
ATF6 |
activating transcription factor 6 |
treatment |
ISO |
|
RGD |
PMID:27813192 |
RGD:401842386 |
NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
|
|
G |
ATP5IF1 |
ATP synthase inhibitory factor subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr 1:27,495,250...27,497,255
Ensembl chr 1:28,532,091...28,542,607
|
|
G |
ATP7B |
ATPase copper transporting beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17303181 |
|
NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21664615 |
|
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
CA3 |
carbonic anhydrase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr 8:81,965,041...81,976,133
|
|
G |
CAT |
catalase |
|
ISO |
protein:decreased expression:liver CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10860543 PMID:21452373 |
RGD:5130871 |
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22983634 PMID:29684222 |
RGD:8548844 |
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:28011329 |
RGD:14995306 |
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
|
|
G |
CD163 |
CD163 molecule |
|
ISO |
associated with hepatitis B;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
|
|
G |
CD36 |
CD36 molecule (CD36 blood group) |
|
ISO |
|
RGD |
PMID:19788606 |
RGD:6893500 |
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
|
|
G |
CEBPB |
CCAAT enhancer binding protein beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
|
NCBI chr20:46,533,163...46,535,282
|
|
G |
CNDP2 |
carnosine dipeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr18:67,882,189...67,907,094
Ensembl chr18:71,162,331...71,188,879
|
|
G |
COL3A1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15787813 |
|
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
|
|
G |
CPS1 |
carbamoyl-phosphate synthase 1 |
|
ISO |
protein:increased expression:liver (rat) |
RGD |
PMID:20347174 |
RGD:4144089 |
NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
|
|
G |
CREB1 |
cAMP responsive element binding protein 1 |
|
ISO |
|
RGD |
PMID:14614508 |
RGD:734818 |
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
|
|
G |
CTSB |
cathepsin B |
|
ISO |
mRNA, protein:increased expression, increased activity:liver, cytosol (rat) |
RGD |
PMID:18452148 |
RGD:2315513 |
NCBI chr 8:7,333,498...7,359,264
|
|
G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
mRNA,protein:increased expression:liver,serum |
RGD |
PMID:25048951 |
RGD:27095890 |
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348005 |
|
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
|
|
G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11929713 |
|
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
|
|
G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27036855 |
|
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
|
|
G |
CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:31175967 |
RGD:25671414 |
NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
|
|
G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO |
DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients CTD Direct Evidence: marker/mechanism protein:increased expression:liver |
RGD CTD |
PMID:14606109 PMID:18952117 PMID:19404342 |
RGD:1626302 RGD:4892244 |
Ensembl chr10:134,839,025...134,852,719
|
|
G |
CYP7B1 |
cytochrome P450 family 7 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23391614 |
|
NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
|
|
G |
DDIT3 |
DNA damage inducible transcript 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
|
NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
|
|
G |
DGAT2 |
diacylglycerol O-acyltransferase 2 |
treatment |
ISO |
|
RGD |
PMID:17526931 |
RGD:10400884 |
NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
|
|
G |
DHRS7 |
dehydrogenase/reductase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr14:40,750,407...40,771,106
Ensembl chr14:59,014,182...59,034,877
|
|
G |
EIF2AK3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
treatment |
ISO |
|
RGD |
PMID:27813192 |
RGD:401842386 |
NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
|
|
G |
EPAS1 |
endothelial PAS domain protein 1 |
|
ISO |
|
RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
|
|
G |
ERN1 |
endoplasmic reticulum to nucleus signaling 1 |
treatment |
ISO |
|
RGD |
PMID:27813192 |
RGD:401842386 |
NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825
|
|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008134 |
|
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
|
|
G |
F2R |
coagulation factor II thrombin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008134 PMID:21907177 PMID:22841818 |
|
NCBI chr 5:38,462,521...38,478,882
Ensembl chr 5:39,110,170...39,129,688 Ensembl chr 5:39,110,170...39,129,688
|
|
G |
FABP1 |
fatty acid binding protein 1 |
|
ISO |
Western diet-induced hepatic steatosis; DNA:mutation::Fabp1 knockout mice |
RGD |
PMID:17058218 |
RGD:1626440 |
NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
|
|
G |
FGF21 |
fibroblast growth factor 21 |
severity |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:24184811 PMID:32195457 |
RGD:25330354 |
NCBI chr19:45,755,466...45,758,472
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
severity |
ISO |
|
RGD |
PMID:32195457 |
RGD:25330354 |
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
|
|
G |
FIS1 |
fission, mitochondrial 1 |
|
ISO |
protein:increased expression:liver (rat) |
RGD |
PMID:24663492 |
RGD:12453042 |
NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
|
|
G |
FOXA1 |
forkhead box A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
|
NCBI chr14:18,347,284...18,352,705
|
|
G |
G6PC1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:29534506 |
RGD:14695544 |
NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
|
|
G |
GCK |
glucokinase |
|
ISO |
associated with Hyperglycemia |
RGD |
PMID:22925001 |
RGD:7488945 |
NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
|
|
G |
GGT1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
|
RGD |
PMID:19670414 |
RGD:14747016 |
NCBI chr22:5,424,334...5,469,705
|
|
G |
GPD1L |
glycerol-3-phosphate dehydrogenase 1 like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
|
|
G |
GPT |
glutamic--pyruvic transaminase |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:19481104 PMID:30185098 |
RGD:14975167 |
Ensembl chr 8:144,259,991...144,263,737
|
|
G |
GPT2 |
glutamic--pyruvic transaminase 2 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:15122758 |
RGD:14975241 |
NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
|
|
G |
GPX1 |
glutathione peroxidase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10860543 PMID:30298849 |
RGD:401960083 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
|
|
G |
GPX4 |
glutathione peroxidase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26042203 |
|
NCBI chr19:20,904...23,828
|
|
G |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
ISO |
DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 |
RGD |
PMID:7846063 |
RGD:1599882 |
NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
|
|
G |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17116638 |
|
NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
|
|
G |
HAS3 |
hyaluronan synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27042213 |
|
NCBI chr16:49,476,561...49,488,820
Ensembl chr16:68,868,416...68,877,476
|
|
G |
HFE |
homeostatic iron regulator |
no_association |
ISO |
Non-alcoholic steatohepatitis (NASH) |
RGD |
PMID:12105842 |
RGD:1601460 |
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
|
|
G |
HHEX |
hematopoietically expressed homeobox |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469900 |
|
NCBI chr10:89,433,402...89,439,137
Ensembl chr10:92,947,373...92,952,992
|
|
G |
HM13 |
histocompatibility minor 13 |
|
ISO |
associated with hepatitis |
RGD |
PMID:27142248 |
RGD:40924634 |
NCBI chr20:27,803,597...27,859,384
Ensembl chr20:28,441,285...28,501,001
|
|
G |
HSD17B13 |
hydroxysteroid 17-beta dehydrogenase 13 |
|
ISO |
ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM |
ClinVar |
PMID:29562163 PMID:34930143 |
|
NCBI chr 4:79,606,163...79,625,401
Ensembl chr 4:90,333,816...90,351,346
|
|
G |
HSPA5 |
heat shock protein family A (Hsp70) member 5 |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: |
RGD |
PMID:23647685 PMID:27813192 |
RGD:11354957 RGD:401842386 |
NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
|
|
G |
HTR2A |
5-hydroxytryptamine receptor 2A |
|
ISO |
associated with morbid obesity;mRNA:decreased expression:liver |
RGD |
PMID:33081272 |
RGD:401900305 |
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
|
|
G |
HTR2B |
5-hydroxytryptamine receptor 2B |
|
ISO |
associated with morbid obesity;mRNA:decreased expression:liver |
RGD |
PMID:33081272 |
RGD:401900305 |
NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
|
|
G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
OMIM:228100 |
MouseDO |
|
|
NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
associated with Diabetes Mellitus |
RGD |
PMID:18267346 |
RGD:2308948 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
|
|
G |
IL13RA2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
|
RGD |
PMID:18802068 |
RGD:4145478 |
NCBI chr X:104,092,993...104,146,062
Ensembl chr X:114,597,077...114,635,253
|
|
G |
IL18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:19084941 |
RGD:4889416 |
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
|
|
G |
IL1B |
interleukin 1 beta |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17436085 |
RGD:1626661 |
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat) |
RGD |
PMID:19076162 PMID:19205029 |
RGD:2307258 RGD:2307264 |
NCBI chr 7:23,415,922...23,420,767
|
|
G |
INS |
insulin |
|
ISO |
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma |
CTD RGD |
PMID:9048448 PMID:18713300 |
RGD:2311137 |
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
|
|
G |
INSIG1 |
insulin induced gene 1 |
severity |
ISO |
associated with Obesity associated with Obesity;mRNA:increased expression:liver |
RGD |
PMID:15096598 |
RGD:2308857 |
NCBI chr 7:146,893,730...146,906,329
Ensembl chr 7:158,619,531...158,632,012
|
|
G |
INSIG2 |
insulin induced gene 2 |
severity |
ISO |
associated with Obesity |
RGD |
PMID:15096598 |
RGD:2308857 |
NCBI chr2B:5,046,971...5,068,757
Ensembl chr2B:118,632,402...118,652,647
|
|
G |
INSR |
insulin receptor |
treatment |
ISO |
protein:decreased phosphorylation: liver (rat) associated with obesity;human gene in mouse model |
RGD |
PMID:22546076 PMID:25160038 PMID:30642871 |
RGD:14700926 RGD:14700935 RGD:14701028 |
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
|
|
G |
JAK2 |
Janus kinase 2 |
|
ISO |
|
RGD |
PMID:22275361 |
RGD:6483019 |
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
|
|
G |
KEAP1 |
kelch like ECH associated protein 1 |
|
ISO |
|
RGD |
PMID:22367278 |
RGD:6893372 |
NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
|
|
G |
LDLR |
low density lipoprotein receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:228100 |
RGD CTD MouseDO |
PMID:25554529 PMID:29459263 PMID:36108984 |
RGD:13703129 |
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
|
|
G |
LEP |
leptin |
severity |
ISO |
associated with morbid obesity;protein:decreased exprssion:serum (human) CTD Direct Evidence: marker/mechanism OMIM:228100 |
RGD CTD MouseDO |
PMID:12661780 PMID:19716478 PMID:24525044 PMID:25554529 PMID:27071101 PMID:27712037 PMID:28281237 More...
|
RGD:21201250 |
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
|
|
G |
LEPR |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25367288 PMID:29743445 |
|
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
|
|
G |
LGALS3 |
galectin 3 |
|
ISO |
OMIM:228100 |
MouseDO |
|
|
NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
|
|
G |
LOC100972354 |
interferon alpha-2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:7736406 PMID:31299271 |
|
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
|
|
G |
LOC100972383 |
proteasome 20S subunit alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr 1:111,776,428...111,803,827
Ensembl chr 1:111,015,365...111,031,944
|
|
G |
LOC100986481 |
cytochrome c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10860543 |
|
NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
|
|
G |
LRP6 |
LDL receptor related protein 6 |
|
ISO |
OMIM:228100 |
MouseDO |
|
|
NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973
|
|
G |
MAP3K8 |
mitogen-activated protein kinase kinase kinase 8 |
ameliorates |
ISO |
|
RGD |
PMID:26560698 |
RGD:11342977 |
NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824
|
|
G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:21540183 |
RGD:9585751 |
NCBI chr10:45,806,748...45,936,362
|
|
G |
MAT1A |
methionine adenosyltransferase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12060674 |
|
NCBI chr10:76,677,815...76,697,512
Ensembl chr10:80,280,063...80,298,291
|
|
G |
MC4R |
melanocortin 4 receptor |
|
ISO |
OMIM:228100 |
MouseDO |
|
|
NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32045588 |
|
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MFN2 |
mitofusin 2 |
|
ISO |
protein:decreased expression:liver (rat) |
RGD |
PMID:24663492 |
RGD:12453042 |
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
|
ISO |
associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:15834927 |
RGD:1580580 |
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
|
|
G |
MTTP |
microsomal triglyceride transfer protein |
|
ISO |
associated with Hepatitis C;mRNA:decreased expression:liver CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16697730 PMID:17303181 |
RGD:1625483 |
NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24210820 |
|
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
|
|
G |
NEIL1 |
nei like DNA glycosylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16446448 PMID:21285402 |
|
NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22367278 PMID:28555106 |
RGD:6893372 |
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
NFKB1 |
nuclear factor kappa B subunit 1 |
|
ISO |
|
RGD |
PMID:21643627 |
RGD:5135028 |
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
|
|
G |
NOX4 |
NADPH oxidase 4 |
treatment |
ISO |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr11:84,330,362...84,496,755
|
|
G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
protein:increased activity:liver |
RGD |
PMID:17721935 |
RGD:5133249 |
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
|
|
G |
NR0B2 |
nuclear receptor subfamily 0 group B member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
|
NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942
|
|
G |
NR1D1 |
nuclear receptor subfamily 1 group D member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27664470 |
|
NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600
|
|
G |
NR1H3 |
nuclear receptor subfamily 1 group H member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23651738 |
|
NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
|
|
G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism knockout eliminates treatment effectiveness |
CTD RGD |
PMID:12971955 PMID:23104131 PMID:29142166 |
RGD:14696795 RGD:15045573 |
NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
|
|
G |
NR1I2 |
nuclear receptor subfamily 1 group I member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25182422 |
|
NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129
|
|
G |
NR3C2 |
nuclear receptor subfamily 3 group C member 2 |
treatment |
ISO |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
|
|
G |
NREP |
neuronal regeneration related protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr 5:107,089,968...107,118,919
|
|
G |
NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:33812996 |
|
NCBI chr 6:115,486,422...115,521,317
|
|
G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Hepatic steatosis |
ClinVar |
PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27890673 PMID:28492532 PMID:31521625 PMID:32420686 PMID:37196654 More...
|
|
NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
|
|
G |
OTC |
ornithine transcarbamylase |
|
ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:18823438 |
RGD:4144061 |
NCBI chr X:30,796,828...30,868,144
Ensembl chr X:38,505,232...38,575,819
|
|
G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
ISO |
|
RGD |
PMID:21756965 |
RGD:25440484 |
NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
|
|
G |
PLIN2 |
perilipin 2 |
|
ISO |
associated with Obesity CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16439473 PMID:17484887 |
RGD:1625752 |
NCBI chr 9:18,928,455...18,951,132
Ensembl chr 9:19,421,928...19,462,222
|
|
G |
PNPLA3 |
patatin like phospholipase domain containing 3 |
severity |
ISO |
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21319195 PMID:23564580 PMID:25284145 PMID:25678388 |
RGD:11055420 RGD:14981583 RGD:14981585 RGD:14981590 |
NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003
|
|
G |
POMC |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:167377 |
|
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
|
|
G |
PON1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26945512 |
|
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
|
|
G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) CTD Direct Evidence: therapeutic associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice |
RGD CTD |
PMID:16393287 PMID:19124612 PMID:21929649 |
RGD:15042851 RGD:5509939 |
Ensembl chr22:45,218,364...45,302,970
|
|
G |
PPARD |
peroxisome proliferator activated receptor delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23851158 |
|
NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
|
|
G |
PPARG |
peroxisome proliferator activated receptor gamma |
treatment |
ISO |
|
RGD |
PMID:15112352 PMID:30298849 |
RGD:1580685 RGD:401960083 |
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
|
|
G |
PPARGC1A |
PPARG coactivator 1 alpha |
treatment |
ISO |
protein:decreased methylation:liver (rat) |
RGD |
PMID:22521344 PMID:23174781 PMID:23274094 |
RGD:7241844 RGD:7242012 RGD:7242179 |
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
|
|
G |
PRKAA1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
|
RGD |
PMID:19162361 |
RGD:6484544 |
NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
|
|
G |
PRKCD |
protein kinase C delta |
|
ISO |
|
RGD |
PMID:17596878 |
RGD:1642523 |
NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
|
|
G |
PRMT7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Hepatic steatosis |
ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
|
NCBI chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:liver OMIM:228100 CTD Direct Evidence: marker/mechanism |
RGD MouseDO CTD |
PMID:15199412 PMID:18166358 PMID:27022031 |
RGD:1302555 RGD:2292522 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
mRNA,protein:increased expression:liver |
RGD |
PMID:21643627 |
RGD:5135028 |
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
PTMA |
prothymosin alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15885234 |
|
NCBI chr2B:118,959,382...118,964,364
|
|
G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
|
RGD |
PMID:21643627 |
RGD:5135028 |
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
|
|
G |
RIPK3 |
receptor interacting serine/threonine kinase 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26769846 |
|
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
|
|
G |
SERPINA6 |
serpin family A member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr14:74,936,724...74,955,799
Ensembl chr14:94,269,299...94,288,391
|
|
G |
SERPINE1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18641190 PMID:29684222 |
|
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SHC1 |
SHC adaptor protein 1 |
|
ISO |
associated with Obesity |
RGD |
PMID:17596878 |
RGD:1642523 |
NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
|
|
G |
SIRT1 |
sirtuin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic OMIM:228100 associated with Obesity |
CTD MouseDO RGD |
PMID:21321189 PMID:21540183 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 More...
|
RGD:9585751 |
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
|
|
G |
SIRT6 |
sirtuin 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28536482 |
|
NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126
|
|
G |
SIRT7 |
sirtuin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24210820 |
|
NCBI chr17:76,317,560...76,323,761
Ensembl chr17:82,020,077...82,026,289
|
|
G |
SLC13A5 |
solute carrier family 13 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26303333 |
|
NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
|
|
G |
SLC22A8 |
solute carrier family 22 member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25226513 |
|
NCBI chr11:58,345,026...58,368,089
Ensembl chr11:61,696,354...61,719,413
|
|
G |
SLC27A4 |
solute carrier family 27 member 4 |
|
ISO |
mRNA, protein:increased expression |
RGD |
PMID:16248953 |
RGD:1625640 |
NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077
|
|
G |
SLC2A2 |
solute carrier family 2 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12048068 |
|
NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722
|
|
G |
SLCO1A2 |
solute carrier organic anion transporter family member 1A2 |
|
ISO |
|
RGD |
PMID:16139386 |
RGD:1598602 |
NCBI chr12:64,963,090...65,029,673
Ensembl chr12:67,566,066...67,632,608
|
|
G |
SOCS1 |
suppressor of cytokine signaling 1 |
|
ISO |
associated with Obesity |
RGD |
PMID:15240880 |
RGD:1625677 |
NCBI chr16:10,196,432...10,198,205
|
|
G |
SOCS3 |
suppressor of cytokine signaling 3 |
|
ISO |
associated with Obesity |
RGD |
PMID:15240880 |
RGD:1625677 |
NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
|
|
G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27349771 |
|
NCBI chr21:18,029,831...18,037,526
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10860543 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24469900 PMID:27813192 |
RGD:401842386 |
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
|
|
G |
STAT4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:16799967 |
RGD:25671424 |
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
|
|
G |
STS |
steroid sulfatase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24497646 |
|
Ensembl chr X:7,047,017...7,207,540
|
|
G |
SUOX |
sulfite oxidase |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:15144217 |
RGD:1600114 |
NCBI chr12:32,907,456...32,915,788
Ensembl chr12:33,157,277...33,165,661
|
|
G |
TF |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008134 PMID:21907177 |
|
NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18641190 PMID:27022031 |
|
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348005 |
|
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
TXN |
thioredoxin |
|
ISO |
|
RGD |
PMID:18578693 |
RGD:2306156 |
NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
|
|
G |
UCP2 |
uncoupling protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver |
CTD RGD |
PMID:10860543 PMID:21114362 |
RGD:7204423 |
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
|
|
G |
VDR |
vitamin D receptor |
|
ISO |
|
RGD |
PMID:30905785 |
RGD:14402029 |
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
|
|
G |
XBP1 |
X-box binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24097666 |
|
NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
|
|
|
G |
ADPGK |
ADP dependent glucokinase |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
|
|
G |
ARIH1 |
ariadne RBR E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226
|
|
G |
BBS4 |
Bardet-Biedl syndrome 4 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
|
|
G |
CD276 |
CD276 molecule |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,594,719...52,625,047
|
|
G |
GM2A |
ganglioside GM2 activator |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
|
|
NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
|
|
G |
GOLGA6B |
golgin A6 family member B |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,553,289...51,584,844
|
|
G |
GRAMD2A |
GRAM domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,111,249...51,148,379
Ensembl chr15:69,874,593...69,912,241
|
|
G |
HCN4 |
hyperpolarization activated cyclic nucleotide gated potassium channel 4 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult |
OMIM ClinVar |
PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 PMID:1301938 PMID:1301958 PMID:1302612 PMID:1307230 PMID:1318511 PMID:1322637 PMID:1384323 PMID:1387685 PMID:1415222 PMID:1483696 PMID:1532289 PMID:1827944 PMID:1827945 PMID:1830584 PMID:1831451 PMID:1832817 PMID:1833974 PMID:1837283 PMID:1996872 PMID:2137287 PMID:2139660 PMID:2140574 PMID:2141777 PMID:2144098 PMID:2145759 PMID:2278539 PMID:2294750 PMID:2521932 PMID:2522660 PMID:2522679 PMID:2531748 PMID:2824459 PMID:2837213 PMID:2848800 PMID:2934978 PMID:2954459 PMID:2961848 PMID:2970528 PMID:2973311 PMID:2973464 PMID:3362213 PMID:3375249 PMID:3754980 PMID:3837850 PMID:6236221 PMID:6959123 PMID:7063277 PMID:7551830 PMID:7717398 PMID:7749419 PMID:7827134 PMID:7837766 PMID:7858168 PMID:7898712 PMID:7902672 PMID:7951261 PMID:8044648 PMID:8081943 PMID:8111418 PMID:8123671 PMID:8230592 PMID:8257995 PMID:8326491 PMID:8328462 PMID:8328470 PMID:8343225 PMID:8352284 PMID:8397824 PMID:8444467 PMID:8445615 PMID:8484765 PMID:8488832 PMID:8490625 PMID:8581357 PMID:8672428 PMID:8673609 PMID:8730294 PMID:8757036 PMID:8995368 PMID:9090523 PMID:9090529 PMID:9150157 PMID:9153525 PMID:9169471 PMID:9222766 PMID:9272736 PMID:9338583 PMID:9401008 PMID:9536098 PMID:9603435 PMID:9694901 PMID:9851891 PMID:10083731 PMID:10464605 PMID:10571007 PMID:10584247 PMID:10852376 PMID:11161796 PMID:11317368 PMID:11463833 PMID:11596984 PMID:11707436 PMID:12027830 PMID:12108829 PMID:12180151 PMID:12202988 PMID:12689698 PMID:14566483 PMID:14577003 PMID:14648242 PMID:14685153 PMID:14724290 PMID:14727180 PMID:15065574 PMID:15108204 PMID:15714079 PMID:16088929 PMID:16199547 PMID:16352452 PMID:16434676 PMID:16698036 PMID:16948947 PMID:17001642 PMID:17015493 PMID:17237499 PMID:17259242 PMID:17576681 PMID:18358410 PMID:18490185 PMID:18648917 PMID:19091716 PMID:19156839 PMID:19644708 PMID:19815695 PMID:19858779 PMID:20100466 PMID:20301350 PMID:20301397 PMID:20363167 PMID:20672374 PMID:20926324 PMID:21228398 PMID:21567908 PMID:21796138 PMID:21937992 PMID:21967858 PMID:22006919 PMID:22344438 PMID:22390110 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23035047 PMID:23359698 PMID:23820084 PMID:23852624 PMID:24033266 PMID:24088041 PMID:24374108 PMID:24498621 PMID:24518553 PMID:24583203 PMID:24767253 PMID:24940364 PMID:24953648 PMID:25041270 PMID:25287655 PMID:25326635 PMID:25525159 PMID:25557439 PMID:25606403 PMID:25640679 PMID:25741868 PMID:25741876 PMID:25860343 PMID:26350204 PMID:26467025 PMID:26633545 PMID:27033294 PMID:27054707 PMID:27362553 PMID:27682588 PMID:27896118 PMID:27959697 PMID:28359061 PMID:28492532 PMID:28503624 PMID:28739864 PMID:29214523 PMID:29451896 PMID:29482223 PMID:29973161 PMID:30506202 PMID:31069529 PMID:31076878 PMID:31130284 PMID:31242539 PMID:31293106 PMID:31367523 PMID:31388111 PMID:31428437 PMID:31839005 PMID:32529985 PMID:32968423 PMID:33083013 PMID:33240792 PMID:33426165 PMID:33547378 PMID:33811753 PMID:34288098 PMID:34302356 PMID:34426522 PMID:34440436 PMID:34554397 PMID:35186388 PMID:36907859 More...
|
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
G |
INSYN1 |
inhibitory synaptic factor 1 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,650,196...52,663,270
Ensembl chr15:71,405,502...71,418,269
|
|
G |
LOXL1 |
lysyl oxidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,835,675...52,861,324
|
|
G |
MYO9A |
myosin IXA |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
|
|
G |
NEO1 |
neogenin 1 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
|
|
G |
NPTN |
neuroplastin |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,470,545...52,544,046
Ensembl chr15:71,229,992...71,269,579
|
|
G |
NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
|
|
G |
PARP6 |
poly(ADP-ribose) polymerase family member 6 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,191,718...51,223,312
Ensembl chr15:69,955,568...69,987,061
|
|
G |
PKM |
pyruvate kinase M1/2 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
|
|
G |
REC114 |
REC114 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,357,979...52,470,811
Ensembl chr15:71,116,084...71,228,098
|
|
G |
SENP8 |
SUMO peptidase family member, NEDD8 specific |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,069,863...51,092,561
Ensembl chr15:69,854,934...69,855,572
|
|
G |
SETX |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
|
|
G |
TBC1D21 |
TBC1 domain family member 21 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:52,783,013...52,798,656
Ensembl chr15:71,538,363...71,553,960
|
|
G |
TMEM202 |
transmembrane protein 202 |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease |
ClinVar |
PMID:1833974 PMID:8490625 PMID:28492532 |
|
NCBI chr15:51,347,032...51,357,008
Ensembl chr15:70,111,035...70,120,598
|
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Tay-sachs disease, juvenile |
ClinVar |
PMID:1301189 PMID:25741868 |
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant |
ClinVar |
PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 PMID:2521932 PMID:2961848 PMID:2973311 PMID:7551830 PMID:8081943 PMID:8111418 PMID:8730294 PMID:9272736 PMID:10584247 PMID:14577003 PMID:16088929 PMID:17015493 PMID:18490185 PMID:20100466 PMID:20301350 PMID:22441121 PMID:22789865 PMID:23359698 PMID:24088041 PMID:24953648 PMID:25041270 PMID:25741868 PMID:25741876 PMID:27896118 PMID:28359061 PMID:28492532 PMID:30506202 PMID:31367523 PMID:34288098 More...
|
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
|
|
|
G |
CASQ1 |
calsequestrin 1 |
|
ISO |
ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates |
OMIM ClinVar |
PMID:16714317 PMID:25116801 PMID:25741868 PMID:26136523 PMID:26416891 PMID:28492532 More...
|
|
NCBI chr 1:135,544,249...135,555,545
Ensembl chr 1:139,465,605...139,476,969
|
|
|
G |
IFIT2 |
interferon induced protein with tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Wolman disease |
ClinVar |
PMID:28492532 |
|
NCBI chr10:86,027,170...86,034,246
Ensembl chr10:89,566,827...89,573,795
|
|
G |
IFIT3 |
interferon induced protein with tetratricopeptide repeats 3 |
|
ISO |
ClinVar Annotator: match by term: Wolman disease |
ClinVar |
PMID:28492532 |
|
NCBI chr10:86,053,139...86,066,193
Ensembl chr10:89,592,578...89,605,800
|
|
G |
IFIT5 |
interferon induced protein with tetratricopeptide repeats 5 |
|
ISO |
ClinVar Annotator: match by term: Wolman disease |
ClinVar |
PMID:28492532 |
|
NCBI chr10:86,139,816...86,146,244
Ensembl chr10:89,678,703...89,685,839
|
|
G |
LIPA |
lipase A, lysosomal acid type |
|
ISO |
ClinVar Annotator: match by term: CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: Wolman disease |
ClinVar OMIM |
PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8894696 PMID:8956047 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30249571 PMID:30270055 PMID:30665623 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:31412917 PMID:32041611 PMID:32382506 More...
|
|
NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
|
|
G |
LOC100976728 |
interferon-induced protein with tetratricopeptide repeats 1 |
|
ISO |
ClinVar Annotator: match by term: Wolman disease |
ClinVar |
PMID:28492532 |
|
NCBI chr10:86,117,807...86,129,256
Ensembl chr10:89,667,149...89,668,579
|
|
G |
LOC100977291 |
interferon-induced protein with tetratricopeptide repeats 1B |
|
ISO |
ClinVar Annotator: match by term: Wolman disease |
ClinVar |
PMID:28492532 |
|
NCBI chr10:86,094,636...86,109,924
Ensembl chr10:89,648,070...89,649,517
|
|
G |
SLC16A12 |
solute carrier family 16 member 12 |
|
ISO |
ClinVar Annotator: match by term: Wolman disease |
ClinVar |
PMID:28492532 |
|
NCBI chr10:86,155,527...86,187,917
Ensembl chr10:89,696,148...89,727,585
|
|
|
G |
LIPA |
lipase A, lysosomal acid type |
|
ISO |
ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis |
ClinVar |
PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:29196158 PMID:29958253 PMID:31182375 PMID:31392116 PMID:32041611 More...
|
|
NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
|
|
|
G |
ABCG5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11138003 |
|
NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012
|
|
G |
LDLR |
low density lipoprotein receptor |
|
ISO |
DNA:mutation:exon:478T > A(rat) |
RGD |
PMID:22293196 |
RGD:12910105 |
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
exacerbates |
ISO |
associated with atherosclerosis |
RGD |
PMID:30354239 |
RGD:126925206 |
NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
|
|
G |
SOAT1 |
sterol O-acyltransferase 1 |
|
ISO |
associated with atherosclerosis |
RGD |
PMID:30354239 |
RGD:126925206 |
NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
|
|