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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lipid metabolism disorder
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Accession:DOID:3146 term browser browse the term
Definition:Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Synonyms:exact_synonym: fatty acid metabolism disorder;   lipid metabolism disorders;   lipid metabolism, inborn error;   lipid metabolism, inborn errors
 primary_id: MESH:D008052;   MESH:D052439
For additional species annotation, visit the Alliance of Genome Resources.


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lipid metabolism disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11138003 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6816881 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoc2 apolipoprotein C2 no_association ISO DNA:missense mutation: :p.K19T (human) RGD PMID:7923858 RGD:1601206 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO CPT IA deficiency, OMIM:255120, D454G RGD PMID:9691089 RGD:1600732 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO infantile form CPT2 deficiency, OMIM:600649, R631C RGD PMID:1528846 RGD:1600742 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252231 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Decr1 2,4-dienoyl-CoA reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2332510 NCBI chr 5:29,573,893...29,601,731
Ensembl chr 5:29,573,898...29,601,748
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO desmosterolosis, OMIM:602398, Y471S, N294T, K306N RGD PMID:11519011 RGD:1600897 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Lep leptin IEP protein:increased expression:adipose tissue RGD PMID:30550969 RGD:25330351 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:1671786, PMID:1883393, PMID:15292318 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Mvk mevalonate kinase ISO mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T RGD PMID:1377680 RGD:1600528 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Npy5r neuropeptide Y receptor Y5 susceptibility ISO DNA:SNPs: :many RGD PMID:17426313 RGD:1625492 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO DNA:missense mutation:cds:p.L162V (human) RGD PMID:10828087 RGD:1580230 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17878938 NCBI chr 9:81,999,368...82,008,620
Ensembl chr 9:81,999,376...82,008,620
JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency ClinVar PMID:9326943, PMID:11549685, PMID:12466376 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:598011, PMID:2918056, PMID:8075637, PMID:8469252, PMID:8550739, PMID:8626842, PMID:9029729, PMID:9467575, PMID:9709959, PMID:9758445, PMID:10022457, PMID:10599740, PMID:11158067, PMID:17071532, PMID:17466011, PMID:17509588, PMID:19498320, PMID:20689261, PMID:21214500, PMID:22212252, PMID:23295294, PMID:23375913, PMID:24025597, PMID:24033266, PMID:25383892, PMID:25526675, PMID:25536660, PMID:25740850, PMID:25741868, PMID:28492532 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
2,4-Dienoyl-CoA Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Decr1 2,4-dienoyl-CoA reductase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency
CTD
ClinVar
PMID:25526675, PMID:25741868, PMID:28492532 NCBI chr 5:29,573,893...29,601,731
Ensembl chr 5:29,573,898...29,601,748
JBrowse link
G Nadk2 NAD kinase 2, mitochondrial ISO ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency OMIM
ClinVar
PMID:24847004, PMID:25741868, PMID:27940755, PMID:28492532, PMID:29388319 NCBI chr 2:58,462,588...58,504,735
Ensembl chr 2:58,462,588...58,504,728
JBrowse link
abetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Betalipoprotein deficiency disease
ClinVar Annotator: match by term: Abetalipoproteinemia
ClinVar Annotator: match by OMIM:200100
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
PMID:1439810, PMID:2903181, PMID:7782284, PMID:8071315, PMID:8361539, PMID:8533758, PMID:8939939, PMID:10446076, PMID:10679949, PMID:10946006, PMID:12630961, PMID:16721486, PMID:17275380, PMID:18027103, PMID:18611256, PMID:19066957, PMID:20592474, PMID:22236406, PMID:23475612, PMID:24842304, PMID:25108285, PMID:27170061, PMID:27271787, PMID:27487388, PMID:27578136, PMID:28492532, PMID:30522860, PMID:8533758, PMID:14741197, PMID:10946006 RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010, PMID:2527366, PMID:8343110 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810, PMID:2903181, PMID:7782284, PMID:8071315, PMID:8361539, PMID:8533758, PMID:8939939, PMID:10446076, PMID:10679949, PMID:10946006, PMID:12630961, PMID:16721486, PMID:17275380, PMID:18027103, PMID:18611256, PMID:19066957, PMID:20592474, PMID:22236406, PMID:23475612, PMID:24842304, PMID:25108285, PMID:27170061, PMID:27271787, PMID:27487388, PMID:27578136, PMID:28492532, PMID:30522860 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
Acetyl-Coa Carboxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: ACACA DEFICIENCY OMIM
ClinVar
NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
Adrenal Hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201810
OMIM
ClinVar
CTD
PMID:295036, PMID:1363812, PMID:2755580, PMID:4539073, PMID:7633460, PMID:8316254, PMID:9719627, PMID:10486704, PMID:10599696, PMID:10770215, PMID:10843183, PMID:10973654, PMID:11196452, PMID:11287026, PMID:12050213, PMID:14966389, PMID:16648810, PMID:17689071, PMID:18252794, PMID:24033266, PMID:25526675, PMID:26288759, PMID:27796263, PMID:28492532, PMID:31611844 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634, PMID:2433405, PMID:9326939, PMID:9326940, PMID:9657395, PMID:10767344, PMID:11555634, PMID:14974078, PMID:17905308, PMID:18612766, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
ClinVar Annotator: match by OMIM:614879
OMIM
ClinVar
PMID:1773541, PMID:8295403, PMID:9090381, PMID:9090382, PMID:9090383, PMID:9472033, PMID:9686382, PMID:10083738, PMID:10673331, PMID:11756410, PMID:11781871, PMID:12325024, PMID:12522768, PMID:14974078, PMID:17325280, PMID:20301447, PMID:21465523, PMID:21990100, PMID:22008564, PMID:23352163, PMID:23572185, PMID:25741868, PMID:25800479, PMID:25851898, PMID:26408048, PMID:26467025, PMID:26587300, PMID:28492532, PMID:30311386 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
Alcoholic Fatty Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO
RGD PMID:26115886, PMID:18755807, PMID:27220557, PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility
IDA
ISO
human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)
RGD PMID:17058263, PMID:25457208, PMID:29156373, PMID:29063269 RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26428356, PMID:25583360, PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546, PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO
IEP
DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463, PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar Annotator: match by OMIM:614307
OMIM
ClinVar
PMID:10655068, PMID:12438241, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20558530, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25133958, PMID:25741868, PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
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 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler Syndrome, Autosomal Dominant
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:7558045, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8651276, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9462761, PMID:9605588, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10406670, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:17525745, PMID:18391498, PMID:18552176, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:31145570, PMID:10633130 RGD:12801485 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613571
OMIM
ClinVar
CTD
PMID:9360545, PMID:12116245, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16467261, PMID:16470797, PMID:16906539, PMID:17827787, PMID:18230729, PMID:18551037, PMID:18559916, PMID:18930113, PMID:19837910, PMID:20124576, PMID:20732302, PMID:20940534, PMID:21084761, PMID:21741353, PMID:21843508, PMID:22162478, PMID:22462747, PMID:24847272, PMID:25712184, PMID:25741868, PMID:27496950, PMID:28492532, PMID:28841001 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency ClinVar NCBI chr12:23,989,596...23,998,257
Ensembl chr12:23,989,596...23,998,254
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750
OMIM
ClinVar
PMID:9360545, PMID:12116245, PMID:14513299, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16470797, PMID:18559916, PMID:20124576, PMID:20940534, PMID:25741868, PMID:28492532, PMID:28841001, PMID:31837199 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
ClinVar Annotator: match by term: Antley-bixler syndrome without genital anomalies or disordered steroidogenesis
OMIM
ClinVar
PMID:7558045, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9605588, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10406670, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:17525745, PMID:18391498, PMID:18552176, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:28492532, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
Apolipoprotein A-I, Deficiency of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency
ClinVar Annotator: match by term: Corneal clouding due to apolipoprotein a-i deficiency
ClinVar Annotator: match by term: Apolipoprotein a-i deficiency
OMIM
ClinVar
PMID:1898657, PMID:1901417, PMID:2506176, PMID:2512329, PMID:6800349, PMID:7981179, PMID:9514407 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
APOLIPOPROTEIN A-II DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Apolipoprotein A-II deficiency OMIM
ClinVar
NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
apolipoprotein C-III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2
ClinVar Annotator: match by OMIM:614028
OMIM
ClinVar
PMID:2022742, PMID:19074352, PMID:24941081, PMID:24941082, PMID:25962519, PMID:28406212 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Apparent mineralocorticoid excess
ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:218030
OMIM
ClinVar
CTD
PMID:3860318, PMID:7593417, PMID:7593456, PMID:7608290, PMID:7670488, PMID:9398712, PMID:9683587, PMID:9683905, PMID:9707624, PMID:9851783, PMID:10536001, PMID:11085685, PMID:11238516, PMID:12788846, PMID:15126515, PMID:15134813, PMID:17314322, PMID:19075542, PMID:24123366, PMID:25526675, PMID:25593612, PMID:26467025 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency OMIM
ClinVar
PMID:1371116, PMID:2060627, PMID:2514102, PMID:2615292, PMID:6256275, PMID:8370580, PMID:8460394, PMID:15856305, PMID:17919309, PMID:25741868, PMID:26822237, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:603813
OMIM
ClinVar
PMID:4351242, PMID:7628519, PMID:11326085, PMID:11897284, PMID:12016260, PMID:12464675, PMID:12788851, PMID:12958143, PMID:15485476, PMID:15599766, PMID:20124734, PMID:21872251, PMID:22157599, PMID:24033266, PMID:25647241, PMID:25741868, PMID:25911074, PMID:26723464, PMID:27247956, PMID:28492532, PMID:28965616, PMID:29245109 NCBI chr 5:152,964,294...152,987,286
Ensembl chr 5:152,966,591...152,987,211
JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Barth syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar PMID:11238270, PMID:15793838, PMID:19396829, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:58,052,786...58,063,227
Ensembl chr 4:58,053,041...58,063,138
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ClinVar Annotator: match by term: Barth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:302060
OMIM
ClinVar
CTD
PMID:1719174, PMID:1998334, PMID:4685904, PMID:7616547, PMID:8042670, PMID:8434619, PMID:8630491, PMID:9332651, PMID:9345098, PMID:9382096, PMID:9382097, PMID:11238270, PMID:11735032, PMID:12032589, PMID:12468278, PMID:12930833, PMID:15098233, PMID:15793838, PMID:16385454, PMID:16427346, PMID:16548007, PMID:16873891, PMID:16880272, PMID:17394203, PMID:18430085, PMID:19396829, PMID:19438153, PMID:19619503, PMID:19648820, PMID:19700766, PMID:20530761, PMID:20812380, PMID:21300850, PMID:22382802, PMID:23361305, PMID:23409742, PMID:23656970, PMID:24033266, PMID:24342716, PMID:24887148, PMID:25185984, PMID:25741868, PMID:25941633, PMID:26350513, PMID:26724946, PMID:26845103, PMID:28123175, PMID:28183324, PMID:28492532, PMID:29077208, PMID:29089047, PMID:29247119, PMID:31333075, PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Broad beta disease ClinVar PMID:2992507, PMID:3243553, PMID:6300187, PMID:9649566, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by OMIM:255120
OMIM
ClinVar
PMID:9048718, PMID:9691089, PMID:11350182, PMID:11350183, PMID:11441142, PMID:12111367, PMID:12189492, PMID:12351641, PMID:14517221, PMID:15110323, PMID:16146704, PMID:16169268, PMID:16958601, PMID:19181627, PMID:19217814, PMID:20301700, PMID:20696606, PMID:21253826, PMID:21763168, PMID:21962599, PMID:23090344, PMID:23700290, PMID:24033266, PMID:24847810, PMID:25449608, PMID:25741868, PMID:26010953, PMID:26820065, PMID:27066452, PMID:27341449, PMID:28125087, PMID:28468868, PMID:28492532, PMID:30101502, PMID:31319225, PMID:32088118 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
carnitine palmitoyltransferase II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
OMIM:255110 | OMIM:600649 | OMIM:608836
ClinVar
MouseDO
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10868782, PMID:10873395, PMID:11855939, PMID:12200419, PMID:12410208, PMID:12560872, PMID:12673791, PMID:12707442, PMID:14605500, PMID:14615409, PMID:15363638, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:15811315, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18306170, PMID:18363739, PMID:18550408, PMID:18577113, PMID:18645163, PMID:18925671, PMID:19239046, PMID:19762733, PMID:19763152, PMID:20301431, PMID:20307669, PMID:20543534, PMID:20661589, PMID:20810031, PMID:20934285, PMID:20952238, PMID:21227726, PMID:21697855, PMID:21709843, PMID:21913903, PMID:22406018, PMID:22494076, PMID:22652984, PMID:22841441, PMID:22854105, PMID:22899091, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:23757202, PMID:23911907, PMID:24033266, PMID:24398345, PMID:24503134, PMID:24517888, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26010953, PMID:26467025, PMID:26537576, PMID:26636822, PMID:27123472, PMID:27525900, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28649538, PMID:28779239, PMID:28801073, PMID:28871440, PMID:29744303, PMID:30094188, PMID:30311386 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Czib CXXC motif containing zinc binding protein ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar NCBI chr 5:127,489,349...127,498,734
Ensembl chr 5:127,489,418...127,497,293
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by OMIM:600649
OMIM
ClinVar
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10873395, PMID:11855939, PMID:12410208, PMID:12673791, PMID:12707442, PMID:14605500, PMID:14615409, PMID:15363638, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:15811315, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18306170, PMID:18363739, PMID:18550408, PMID:18577113, PMID:18645163, PMID:18925671, PMID:19762733, PMID:20301431, PMID:20543534, PMID:20661589, PMID:20810031, PMID:20934285, PMID:20952238, PMID:21227726, PMID:21697855, PMID:21709843, PMID:21913903, PMID:22494076, PMID:22652984, PMID:22841441, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:23757202, PMID:24033266, PMID:24398345, PMID:24503134, PMID:24517888, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26467025, PMID:26636822, PMID:27123472, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28779239, PMID:30094188 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by OMIM:608836
OMIM
ClinVar
PMID:736528, PMID:835844, PMID:2647738, PMID:2762996, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10862092, PMID:11855939, PMID:12560872, PMID:12673791, PMID:12707442, PMID:15642848, PMID:15776096, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17709715, PMID:17936304, PMID:18363739, PMID:18550408, PMID:20301431, PMID:20810031, PMID:21227726, PMID:21709843, PMID:21913903, PMID:22652984, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:24033266, PMID:24398345, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:27123472, PMID:27629963, PMID:28492532, PMID:28516040, PMID:28779239 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency
ClinVar Annotator: match by OMIM:212138
OMIM
ClinVar
PMID:1598097, PMID:9399886, PMID:9686371, PMID:10384384, PMID:10697964, PMID:11350184, PMID:11592821, PMID:12559850, PMID:12801121, PMID:12859414, PMID:15057979, PMID:15365988, PMID:16919490, PMID:17277394, PMID:21605995, PMID:24088670, PMID:25459972, PMID:25614308, PMID:25741868, PMID:26238931, PMID:27066551, PMID:28492532, PMID:31319225 NCBI chr 8:117,455,308...117,476,762
Ensembl chr 8:117,455,262...117,476,734
JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:213700
ClinVar
CTD
OMIM
PMID:2019602, PMID:7915755, PMID:8006521, PMID:8014582, PMID:8514861, PMID:8730343, PMID:8827518, PMID:8931710, PMID:8950197, PMID:9008528, PMID:9186905, PMID:9254865, PMID:9392430, PMID:9521761, PMID:9548584, PMID:9790667, PMID:10406988, PMID:10430841, PMID:10519880, PMID:10741487, PMID:10775536, PMID:11181744, PMID:11737215, PMID:11903362, PMID:12000359, PMID:12117727, PMID:12270007, PMID:12555943, PMID:12933951, PMID:14741198, PMID:14999499, PMID:15795599, PMID:16157755, PMID:16278884, PMID:16816916, PMID:17030721, PMID:17319284, PMID:17444890, PMID:17697869, PMID:18227423, PMID:18414213, PMID:19204079, PMID:19373932, PMID:19801147, PMID:20301583, PMID:20402754, PMID:20450308, PMID:20558929, 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: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:27858369, PMID:27878435, PMID:27879219, PMID:27884173, PMID:28337550, PMID:28492532, PMID:28590052, PMID:28623566, PMID:28894950, PMID:29095540, PMID:29242796, PMID:29269672, PMID:29321515, PMID:29434128, PMID:30311386, PMID:2019602 RGD:1600872 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4D ClinVar
OMIM
PMID:10831399, PMID:12872253, PMID:15322984, PMID:17470135, PMID:20582309, PMID:21892769, PMID:23393557, PMID:23996628, PMID:24136616, PMID:25108819, PMID:25231362, PMID:25741868, PMID:26002053, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8146180, PMID:16255772, PMID:24295952, PMID:28492532, PMID:6097111 RGD:1600621 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:63,731,767...63,772,049
Ensembl chr10:63,731,767...63,772,049
JBrowse link
G Sar1b secretion associated, Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:246700
OMIM
ClinVar
PMID:10665502, PMID:12692552, PMID:17309654, PMID:17945526, PMID:19285442, PMID:24033266 NCBI chr10:37,215,989...37,245,603
Ensembl chr10:37,215,937...37,245,658
JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by OMIM:300831 OMIM
ClinVar
PMID:19377476, PMID:21129721 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1371116, PMID:1689485, PMID:2019586, PMID:2066109, PMID:2302219, PMID:2320574, PMID:2514102, PMID:8370580, PMID:8554069, PMID:10196694, PMID:10682309, PMID:11309366, PMID:15773042, PMID:17561962, PMID:17616409, PMID:17919309, PMID:18429043, PMID:18693274, PMID:19267410, PMID:19955343, PMID:20484222, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:26462614, PMID:26831127, PMID:28492532, PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
congenital adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1a arginine vasopressin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO 11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human)
DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD PMID:8964882, PMID:1430088 RGD:1600799, RGD:734864
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO
ISS
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
PMID:9302260, PMID:9546661, PMID:12452430, PMID:15026188, PMID:15062555, PMID:16046588, PMID:16670167, PMID:17371482, PMID:20089618, PMID:25525159, PMID:25741868, PMID:25911436, PMID:25913739, PMID:26467025, PMID:26956189, PMID:28492532, PMID:30311386 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISS OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 MouseDO NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18645707, PMID:19636199, PMID:2026124 RGD:4889141 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,486,213...4,489,358
Ensembl chr20:4,486,219...4,489,550
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD
ClinVar
PMID:18252794 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18559916, PMID:17505056 RGD:4889128 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS
DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Lipoid CAH
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
PMID:7892608, PMID:8634702, PMID:8943003, PMID:8948562, PMID:9077535, PMID:9097960, PMID:9141542, PMID:9215316, PMID:10215405, PMID:10323391, PMID:10486704, PMID:10566637, PMID:10700722, PMID:11061515, PMID:11509019, PMID:12725533, PMID:14764819, PMID:15347444, PMID:15546900, PMID:15985476, PMID:16103714, PMID:16118340, PMID:16968793, PMID:17301050, PMID:18729825, PMID:19245813, PMID:19773404, PMID:20444910, PMID:21164258, PMID:21647419, PMID:21846663, PMID:22028173, PMID:22083155, PMID:22903695, PMID:23211570, PMID:23859637, PMID:23920000, PMID:24790358, PMID:24904850, PMID:24953586, PMID:25525159, PMID:25741868, PMID:25883920, PMID:26467025, PMID:26523528, PMID:26650942, PMID:26827627, PMID:27047663, PMID:28467518, PMID:28492532, PMID:28637490, PMID:29576868, PMID:8634702, PMID:9326645 RGD:1600070, RGD:4145592 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962, PMID:3038528, PMID:24033266, PMID:25741868, PMID:26467025
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:30311386 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: P450c11b1 deficiency
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
OMIM
ClinVar
PMID:1430088, PMID:2022736, PMID:3295546, PMID:7049883, PMID:7903314, PMID:8506298, PMID:8768848, PMID:8964882, PMID:8989319, PMID:9302260, PMID:9435454, PMID:9546661, PMID:10487675, PMID:11095433, PMID:11549691, PMID:12452430, PMID:12966519, PMID:15026188, PMID:15062555, PMID:15324322, PMID:15751602, PMID:15755848, PMID:15807871, PMID:16030166, PMID:16046588, PMID:16670167, PMID:16984984, PMID:17121536, PMID:17371482, PMID:17692261, PMID:17726333, PMID:18663314, PMID:19204079, PMID:19820005, PMID:20024693, PMID:20089618, PMID:22465514, PMID:22964742, PMID:23345044, PMID:23940125, PMID:24022297, PMID:24033266, PMID:24334966, PMID:24536089, PMID:24987415, PMID:25525159, PMID:25741868, PMID:25911436, PMID:25913739, PMID:26053152, PMID:26066897, PMID:26265915, PMID:26280318, PMID:26300845, PMID:26467025, PMID:26476331, PMID:26525354, PMID:26806323, PMID:26956189, PMID:27376426, PMID:27376433, PMID:27821898, PMID:28228528, PMID:28492532, PMID:28962970, PMID:29626607, PMID:30311386 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: 21-hydroxylase deficiency
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar PMID:1496017, PMID:1864962, PMID:2303461, PMID:3038528, PMID:3267225, PMID:8034294, PMID:9215318, PMID:10496074, PMID:12220458, PMID:12384784, PMID:14513879, PMID:14715874, PMID:15858147, PMID:19773403, PMID:21134444, PMID:21329531, PMID:21532487, PMID:23166432, PMID:23269230, PMID:23359698, PMID:23769969, PMID:24033266, PMID:24077358, PMID:24904866, PMID:25227725, PMID:25525159, PMID:25538881, PMID:25741868, PMID:26206692, PMID:26209023, PMID:26467025, PMID:26804566, PMID:28392195
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V
ClinVar Annotator: match by term: 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM
ClinVar
PMID:1577471, PMID:1621662, PMID:1714904, PMID:1740503, PMID:2335573, PMID:2786493, PMID:2843762, PMID:6976525, PMID:7629254, PMID:8550762, PMID:9177409, PMID:9326943, PMID:9435441, PMID:10720067, PMID:11422109, PMID:11549685, PMID:11836339, PMID:12466376, PMID:12706306, PMID:14671162, PMID:14715826, PMID:14715827, PMID:15713706, PMID:15811924, PMID:15844475, PMID:16121340, PMID:16477341, PMID:16569739, PMID:16772352, PMID:16849412, PMID:17192295, PMID:17379008, PMID:19636199, PMID:21340157, PMID:21340163, PMID:21846181, PMID:22087567, PMID:23291414, PMID:23466679, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26543560, PMID:26770544, PMID:27959413, PMID:28008861, PMID:28492532, PMID:28870780, PMID:29595516 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
congenital bile acid synthesis defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by OMIM:607765 OMIM
ClinVar
PMID:3470305, PMID:11067870, PMID:12679481 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
congenital bile acid synthesis defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
ClinVar Annotator: match by OMIM:235555
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8707100, PMID:12970144, PMID:15030995, PMID:20522910, PMID:21185810, PMID:25304492, PMID:25741868, PMID:28492532 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
congenital bile acid synthesis defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 3 OMIM
ClinVar
PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4 OMIM
ClinVar
PMID:9584266, PMID:10655068, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25741868, PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM
PMID:25168382 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6
ClinVar
OMIM
PMID:25741868, PMID:27647924, PMID:27884763 NCBI chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470
JBrowse link
congenital generalized lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy
CTD
ClinVar
PMID:19187773 RGD:10047097 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Lipodystrophy, Congenital Generalized
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 ClinVar
OMIM
PMID:11967537, PMID:12765973, PMID:14557463, PMID:14715872, PMID:15181077, PMID:15629135, PMID:18640396, PMID:19026526, PMID:21744063, PMID:22831748, PMID:24498038, PMID:25195639, PMID:25741868, PMID:26336158, PMID:27144933, PMID:28492532 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar
OMIM
PMID:11479539, PMID:11916958, PMID:12030893, PMID:15126564, PMID:15181077, PMID:18057387, PMID:18093937, PMID:19041432, PMID:19226263, PMID:23564749, PMID:23963299, PMID:23989774, PMID:25588603, PMID:25741868, PMID:26282322, PMID:26467025, PMID:27144933, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:269700 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by OMIM:612526 OMIM
ClinVar
PMID:18211975, PMID:25356970, PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 4
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12116229, PMID:18698612, PMID:19726876, PMID:20300641, PMID:20684003, PMID:25741868, PMID:28492532 NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link
Congenital Visceral Steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO RGD PMID:11997462 RGD:1300259 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12858176 RGD:1625067 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25526675, PMID:12858176 RGD:1625067 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 ClinVar
OMIM
PMID:10522997, PMID:11150889, PMID:12858176, PMID:15827106, PMID:16091483, PMID:16817821, PMID:17062770, PMID:18628520, PMID:25741868 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 2
ClinVar Annotator: match by OMIM:614662
OMIM
ClinVar
PMID:21325058, PMID:25741868 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
Cytosolic Acetoacetyl-CoA Thiolase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency OMIM
ClinVar
PMID:25741868 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:22864515, PMID:23181892, PMID:24033266, PMID:24108619, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Desmosterolosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Desmosterolosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:602398
OMIM
ClinVar
CTD
PMID:11519011, PMID:16410790, PMID:21559050, PMID:21671375, PMID:21902244, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
Dyslipidemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21890736 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322881 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: therapeutic CTD PMID:18230960 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyslipidemia
CTD
ClinVar
PMID:25037058 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Bcl3 BCL3, transcription coactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:80,730,758...80,745,273
Ensembl chr 1:80,730,499...80,744,831
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Klf14 Kruppel-like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:58,247,876...58,250,798
Ensembl chr 4:58,247,876...58,250,798
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20530721 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Lep leptin IEP protein:altered expression: serum (rat) RGD PMID:29089335 RGD:21410183 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:20567778, PMID:29988851, PMID:26537785 RGD:12911216 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 12 ClinVar
OMIM
PMID:15126514, PMID:15292318, PMID:18364377 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Maco1 macoilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 5:153,122,780...153,184,940
Ensembl chr 5:153,122,781...153,184,940
JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs12785878 G>T(human) RGD PMID:24073860 RGD:13703112 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:53,750,470...53,870,288
Ensembl chr13:53,750,473...53,870,428
JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30585412 NCBI chr 1:141,474,189...141,481,270
Ensembl chr 1:141,474,180...141,481,315
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 ClinVar
OMIM
PMID:21226579, PMID:21480869, PMID:25741868, PMID:26965621 NCBI chr12:36,694,952...36,761,445
Ensembl chr12:36,694,960...36,761,455
JBrowse link
G Tlr2 toll-like receptor 2 IGI RGD PMID:23295061 RGD:7241091 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tomm40 translocase of outer mitochondrial membrane 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:80,617,749...80,630,253
Ensembl chr 1:80,618,154...80,630,038
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17873875 NCBI chr 1:22,614,832...22,625,134
Ensembl chr 1:22,614,783...22,625,204
JBrowse link
early infantile epileptic encephalopathy 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38
ClinVar
OMIM
PMID:11063737, PMID:12145310, PMID:18287539, PMID:19883648, PMID:20663892, PMID:21539707, PMID:22265715, PMID:25558065, PMID:25741868, PMID:26460143, PMID:26479315, PMID:27270415, PMID:32165008 NCBI chr19:57,484,720...57,496,539
Ensembl chr19:57,484,634...57,496,695
JBrowse link
early infantile epileptic encephalopathy 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55
ClinVar
OMIM
PMID:1139695, PMID:2042915, PMID:28334793 NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
Early Infantile Epileptic Encephalopathy, 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM
ClinVar
PMID:9463366, PMID:9729469, PMID:10373468, PMID:11418246, PMID:22265715, PMID:24463883, PMID:24852103, PMID:25558065, PMID:25851949, PMID:27513193, PMID:28492532, PMID:30311386, PMID:31148362 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
Early Infantile Epileptic Encephalopathy, 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar NCBI chr 8:79,660,634...79,692,044
Ensembl chr 8:79,660,657...79,692,039
JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 OMIM
ClinVar
PMID:17343268, PMID:25326635, PMID:25741868, PMID:31256876 NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
JBrowse link
G Pigbos1 PIGB opposite strand 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar PMID:17343268, PMID:31256876 NCBI chr 8:79,715,337...79,719,706 JBrowse link
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar
OMIM
PMID:10766980, PMID:23819449, PMID:25705862, PMID:26619011, PMID:26822237, PMID:26942290, PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gla galactosidase, alpha ISO DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500
ClinVar
CTD
OMIM
PMID:1315304, PMID:1315715, PMID:1650161, PMID:1668641, PMID:1753437, PMID:1846223, PMID:2152885, PMID:2160973, PMID:2164807, PMID:2171331, PMID:2393552, PMID:2539398, PMID:2744760, PMID:2836863, PMID:6379599, PMID:7504405, PMID:7531540, PMID:7575533, PMID:7596372, PMID:7911050, PMID:7951217, PMID:8069316, PMID:8395937, PMID:8411052, PMID:8738659, PMID:8807334, PMID:8834244, PMID:8863162, PMID:8875188, PMID:8878432, PMID:8996967, PMID:9100224, PMID:9105656, PMID:9116979, PMID:9395081, PMID:9452068, PMID:9452111, PMID:9554750, PMID:9883849, PMID:10090526, PMID:10208848, PMID:10649504, PMID:10666480, PMID:10838196, PMID:10845698, PMID:10916280, PMID:11076046, PMID:11137837, 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:12359124, PMID:12428061, PMID:12429061, PMID:12480979, PMID:12668521, PMID:12694230, PMID:12778775, PMID:12786754, PMID:12796853, PMID:12911529, PMID:12920095, PMID:12938095, PMID:14635108, PMID:14680977, PMID:15091117, PMID:15100373, PMID:15162124, PMID:15339079, PMID:15492942, PMID:15611419, PMID:15702404, PMID:15712228, PMID:15713906, PMID:15776423, PMID:15806320, PMID:16215932, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17206462, PMID:17452128, PMID:17532296, PMID:17555407, PMID:17656478, PMID:17804462, PMID:18023222, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18287059, PMID:18297328, PMID:18387337, PMID:18424138, PMID:18565198, PMID:18596132, PMID:18633574, PMID:18698230, PMID:18830871, PMID:18849176, PMID:18974770, PMID:19287194, PMID:19373884, PMID:19387866, PMID:19621417, PMID:19763152, PMID:19823873, PMID:19925601, PMID:19941952, PMID:20022777, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20300124, PMID:20307669, PMID:20360539, PMID:20367968, PMID:20464614, PMID:20498269, PMID:20505683, PMID:20615758, PMID:20628902, PMID:20716442, PMID:20821055, PMID:21062768, PMID:21092187, PMID:21138548, PMID:21229318, PMID:21333496, PMID:21353612, PMID:21517827, PMID:21549080, PMID:21587323, PMID:21598360, PMID:21683120, PMID:21804088, PMID:21890869, PMID:21896204, PMID:21946453, PMID:21972175, PMID:22004918, PMID:22078290, PMID:22176145, PMID:22205110, PMID:22226368, PMID:22227322, PMID:22241068, PMID:22305854, PMID:22378313, PMID:22406018, PMID:22437327, PMID:22472932, PMID:22551898, PMID:22563919, PMID:22682330, PMID:22695894, PMID:22773828, PMID:22805550, PMID:22874111, PMID:22905681, PMID:23109060, PMID:23146289, PMID:23219219, PMID:23248976, PMID:23305247, PMID:23306324, PMID:23307880, PMID:23332617, PMID:23378663, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23430946, PMID:23465405, PMID:23474038, PMID:23537685, PMID:23566439, PMID:23568732, PMID:23591357, PMID:23677059, PMID:23691425, PMID:23724928, PMID:23818648, 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:24661928, PMID:24718812, PMID:24784157, PMID:24829596, PMID:25026990, PMID:25040344, PMID:25078086, PMID:25149322, PMID:25179549, PMID:25319043, PMID:25382311, PMID:25386848, PMID:25409744, PMID:25439755, PMID:25468650, PMID:25468652, PMID:25511234, PMID:25525159, PMID:25596309, PMID:25611685, PMID:25637381, PMID:25663229, PMID:25741868, PMID:25900714, PMID:25955246, PMID:25974833, PMID:25977923, PMID:26044846, PMID:26047621, PMID:26083343, PMID:26179544, PMID:26238931, PMID:26252393, PMID:26297554, PMID:26305465, PMID:26333625, PMID:26415523, PMID:26424312, PMID:26456105, PMID:26563328, PMID:26631895, PMID:26652600, PMID:26691501, PMID:26866599, PMID:26937405, PMID:26990548, PMID:27083555, PMID:27129690, PMID:27142856, PMID:27160240, PMID:27211852, PMID:27238910, PMID:27356758, PMID:27431810, 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:27896102, PMID:27896103, PMID:27916943, PMID:27931613, PMID:27979989, PMID:27992580, PMID:28082092, PMID:28253518, PMID:28275245, PMID:28299312, PMID:28302345, PMID:28340804, PMID:28360401, PMID:28377241, PMID:28389313, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28500230, PMID:28596458, PMID:28615118, PMID:28646478, PMID:28649509, PMID:28672034, PMID:28682471, PMID:28723748, PMID:28728877, PMID:28736719, PMID:28749998, PMID:28756410, PMID:28798024, PMID:28799081, PMID:28941980, PMID:28977874, PMID:28988177, PMID:29018006, PMID:29037082, PMID:29079200, PMID:29132836, PMID:29203563, PMID:29215092, PMID:29247119, PMID:29307789, PMID:29330335, PMID:29361493, PMID:29476735, PMID:29487688, PMID:29491734, PMID:29543226, PMID:29631605, PMID:29661900, PMID:29770213, PMID:29794742, PMID:29867742, PMID:29982630, PMID:30038331, PMID:30093709, PMID:30201457, PMID:30311386, PMID:30380558, PMID:30385651, PMID:30386727, PMID:30477121, PMID:30568064, PMID:30569317, PMID:30571380, PMID:30594474, PMID:30644091, PMID:30715505, PMID:30773290, PMID:30972193, PMID:31020198, PMID:31036492, PMID:31200018, PMID:31213654, PMID:31291414, PMID:31392112, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32023956, PMID:32161151, PMID:32418857, PMID:32531501, PMID:32860008, PMID:2539398 RGD:1601350 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar PMID:1315715, PMID:1846223, PMID:2171331, PMID:7596372, PMID:8738659, PMID:9395081, PMID:9883849, PMID:10208848, PMID:10838196, PMID:10916280, PMID:11322659, PMID:11688386, PMID:11828341, PMID:12428061, PMID:15702404, PMID:17532296, PMID:17555407, 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:25382311, PMID:25611685, PMID:25741868, PMID:27356758, PMID:27554049, PMID:27560961, PMID:27595546, PMID:27931613, PMID:28082092, PMID:28377241, PMID:28430823, PMID:28492532, PMID:29215092 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
familial apolipoprotein A5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO OMIM NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB ClinVar
OMIM
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
familial combined hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425, PMID:16797745 RGD:1601200 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:15863838, PMID:9812922, PMID:9062353 RGD:1601225, RGD:5685676, RGD:5685674 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:17127808, PMID:12915220 RGD:1601231, RGD:1578481 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Lipc lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to OMIM
ClinVar
PMID:7647785, PMID:7753827, PMID:8199176, PMID:8541837, PMID:8872057, PMID:9550358, PMID:10364086, PMID:10517255, PMID:11260209, PMID:21146168, PMID:22239554, PMID:24033266, PMID:25741868 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Usf1 upstream transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
CTD
ClinVar
PMID:14991056, PMID:16076849 NCBI chr13:89,797,750...89,805,561
Ensembl chr13:89,797,800...89,805,558
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type ID ClinVar
OMIM
PMID:19304573, PMID:20026666, PMID:20124439, PMID:21816778, PMID:22239554, PMID:23806086, PMID:24088041, PMID:24614124, PMID:24847059, PMID:25741868, PMID:28492532 NCBI chr 7:116,632,496...116,635,543
Ensembl chr 7:116,632,506...116,634,293
JBrowse link
Familial HDL Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: ABCA1 polymorphism
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10431236, PMID:10431237, PMID:11476965, PMID:11940086, PMID:18354102, PMID:18776170, PMID:19202195, PMID:20093111, PMID:20595220, PMID:21860089, PMID:23559627, PMID:10431236 RGD:1298571 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar Annotator: match by term: Familial HDL deficiency
ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary
ClinVar PMID:1901417, PMID:17303779, PMID:20884842, PMID:21820994, PMID:23209431, PMID:23770607, PMID:24081495, PMID:25034063, PMID:26530418, PMID:27135400, PMID:27785680, PMID:28492532, PMID:29353225 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
Familial Hypercholanemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar Annotator: match by OMIM:607748
OMIM
ClinVar
PMID:12704386, PMID:17495420, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar Annotator: match by null
OMIM
CTD
ClinVar
PMID:12878321, PMID:25326635, PMID:25741868 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar Annotator: match by OMIM:607748
OMIM
ClinVar
PMID:12704386, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28924228, PMID:29238877 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:19743957, PMID:20800056, PMID:24497850, PMID:25215231, PMID:25741868 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by OMIM:143890 OMIM
ClinVar
PMID:12522687 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
DNA:deletion:promoter, exon:
ClinVar PMID:221546, PMID:1360085, PMID:1424233, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1933004, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:2574033, PMID:2725600, PMID:2843815, PMID:2903181, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12031600, PMID:14732481, PMID:15135245, PMID:15308601, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21600525, PMID:21600530, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:23956253, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24585268, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:25741869, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30076208, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425, PMID:3627182 RGD:11527221 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670, PMID:17094996, PMID:19538517, PMID:20045108, PMID:22698793, PMID:25741868 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia OMIM
ClinVar
PMID:10862610, PMID:12522687, PMID:14673705, PMID:14732757, PMID:15845398 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia OMIM
ClinVar
PMID:25741868, PMID:26467025 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gk glycerol kinase IDA RGD PMID:10642898 RGD:13702898 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by OMIM:143890
OMIM
ClinVar
PMID:200368, PMID:1057090, PMID:1301940, PMID:1301956, PMID:1310940, PMID:1315570, PMID:1319734, PMID:1348044, PMID:1352322, PMID:1362925, PMID:1372927, PMID:1446662, PMID:1453433, PMID:1464748, PMID:1493640, PMID:1609792, PMID:1634609, PMID:1677927, PMID:1714262, PMID:1727071, PMID:1734722, PMID:1734910, PMID:1757095, PMID:1830890, PMID:1863993, PMID:1884514, PMID:1933004, PMID:1952806, PMID:1959928, PMID:1978630, PMID:1978682, PMID:1998642, PMID:1999337, PMID:2029498, PMID:2088165, PMID:2318961, PMID:2324680, PMID:2352257, PMID:2544509, PMID:2565980, PMID:2569482, PMID:2570157, PMID:2572061, PMID:2600087, PMID:2698793, PMID:2726768, PMID:2760198, PMID:2760205, PMID:2777800, PMID:2799589, PMID:2805380, PMID:2831865, PMID:2837085, PMID:2895023, PMID:2901412, PMID:2920733, PMID:2988123, PMID:3012527, PMID:3020025, PMID:3025214, PMID:3155573, PMID:3198114, PMID:3202825, PMID:3263645, PMID:3343347, PMID:3391282, PMID:3425583, PMID:3430554, PMID:3472763, PMID:3475071, PMID:3495735, PMID:3549308, PMID:3572996, PMID:3627182, PMID:3815525, PMID:3818645, PMID:3924410, PMID:3955657, PMID:4061492, PMID:4083361, PMID:4319990, PMID:4750422, PMID:6091915, PMID:6272292, PMID:6288770, PMID:7489239, PMID:7545204, PMID:7548065, PMID:7550239, PMID:7557960, PMID:7573037, PMID:7581403, PMID:7583548, PMID:7586640, PMID:7603991, PMID:7606846, PMID:7616128, PMID:7635461, PMID:7635482, PMID:7649546, PMID:7649549, PMID:7709162, PMID:7718019, PMID:7718023, PMID:7718024, PMID:7749819, PMID:7749829, PMID:7773731, PMID:7789953, PMID:7820934, PMID:7833932, PMID:7866407, PMID:7894220, PMID:7903269, PMID:7903864, PMID:7937987, PMID:7947594, PMID:7979249, PMID:7989866, PMID:8004803, PMID:8054972, PMID:8093663, PMID:8096412, PMID:8098448, PMID:8103503, PMID:8141835, PMID:8168830, PMID:8218110, PMID:8225312, PMID:8292093, PMID:8295321, PMID:8314561, PMID:8347689, PMID:8399083, PMID:8401534, PMID:8409767, PMID:8462973, PMID:8478013, PMID:8535447, PMID:8568489, PMID:8589690, PMID:8599353, PMID:8634338, PMID:8645371, PMID:8645375, PMID:8664907, PMID:8664911, PMID:8678915, PMID:8697568, PMID:8740918, PMID:8784348, PMID:8792825, PMID:8828981, PMID:8828982, PMID:8829662, PMID:8831933, PMID:8844215, PMID:8850176, PMID:8872473, PMID:8882879, PMID:8911609, PMID:8931648, PMID:9003505, PMID:9016531, PMID:9026534, PMID:9039985, PMID:9048913, PMID:9090532, PMID:9104431, PMID:9137885, PMID:9143924, PMID:9147888, PMID:9157944, PMID:9180246, PMID:9184256, PMID:9195230, PMID:9212177, PMID:9222758, PMID:9225977, PMID:9237502, PMID:9237510, PMID:9254862, PMID:9259195, PMID:9261272, PMID:9272705, PMID:9375633, PMID:9399845, PMID:9409298, PMID:9409302, PMID:9412789, PMID:9452078, PMID:9452094, PMID:9452095, PMID:9452118, PMID:9484998, PMID:9500809, PMID:9538514, PMID:9544745, PMID:9544746, PMID:9544850, PMID:9610768, PMID:9654205, PMID:9660059, PMID:9664576, PMID:9671270, PMID:9676383, PMID:9678702, PMID:9684750, PMID:9698020, PMID:9712531, PMID:9714107, PMID:9727746, PMID:9733232, PMID:9763532, PMID:9767373, PMID:9852677, PMID:9889019, PMID:9925649, PMID:9974426, PMID:10066037, PMID:10089940, PMID:10090473, PMID:10090484, PMID:10200052, PMID:10206683, PMID:10208479, PMID:10208490, PMID:10208499, PMID:10230472, PMID:10407508, PMID:10412552, PMID:10422802, PMID:10422803, PMID:10422804, PMID:10441197, PMID:10447263, PMID:10484771, PMID:10487495, PMID:10532689, PMID:10559517, PMID:10570905, PMID:10611908, PMID:10611909, PMID:10634824, PMID:10657581, PMID:10660340, PMID:10668928, PMID:10704205, PMID:10735632, PMID:10782930, PMID:10790219, PMID:10807540, PMID:10882754, PMID:10884919, PMID:10924730, PMID:10926901, PMID:10978268, PMID:10980548, PMID:11005141, PMID:11013454, PMID:11031227, PMID:11040093, PMID:11052664, PMID:11139254, PMID:11194025, PMID:11194027, PMID:11196104, PMID:11257257, PMID:11295843, PMID:11298688, PMID:11298777, PMID:11310584, PMID:11313767, PMID:11317361, PMID:11317362, PMID:11373616, PMID:11381031, PMID:11389828, PMID:11435110, PMID:11462246, PMID:11472756, PMID:11491306, PMID:11506462, PMID:11585102, PMID:11600564, PMID:11641914, PMID:11642133, PMID:11668627, PMID:11668640, PMID:11675977, PMID:11737238, PMID:11754108, PMID:11792717, PMID:11810272, PMID:11845603, PMID:11851376, PMID:11857755, PMID:11916007, PMID:11933210, PMID:12009418, PMID:12052488, PMID:12112655, PMID:12113284, PMID:12124988, PMID:12205127, PMID:12227864, PMID:12406975, PMID:12414836, PMID:12417285, PMID:12436241, PMID:12442279, PMID:12459547, PMID:12485531, PMID:12492446, PMID:12522687, PMID:12553167, PMID:12575931, PMID:12673584, PMID:12705331, PMID:12730724, PMID:12732381, PMID:12820708, PMID:12837857, PMID:12910492, PMID:14209286, PMID:14508510, PMID:14512370, PMID:14570618, PMID:14616764, PMID:14624402, PMID:14675545, PMID:14749324, PMID:14756670, PMID:14767901, PMID:14974088, PMID:14993243, PMID:15015036, PMID:15035285, PMID:15100232, PMID:15135252, PMID:15172466, PMID:15199436, PMID:15200491, PMID:15241806, PMID:15256764, PMID:15303010, PMID:15359125, PMID:15477777, PMID:15494314, PMID:15497035, PMID:15523646, PMID:15528480, PMID:15556092, PMID:15556093, PMID:15556094, PMID:15576851, PMID:15633194, PMID:15701167, PMID:15741231, PMID:15823276, PMID:15823280, PMID:15823288, PMID:15842735, PMID:15864114, PMID:15885240, PMID:15890894, PMID:15936313, PMID:15952897, PMID:15998910, PMID:16020744, PMID:16092059, PMID:16099208, PMID:16159606, PMID:16183066, PMID:16205024, PMID:16211558, PMID:16250003, PMID:16286607, PMID:16314194, PMID:16343504, PMID:16389549, PMID:16465405, PMID:16530458, PMID:16542394, PMID:16627557, PMID:16740646, PMID:16792510, PMID:16796766, PMID:16801348, PMID:16806138, PMID:17044844, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17399720, PMID:17406740, PMID:17426749, PMID:17445538, PMID:17539906, PMID:17625505, PMID:17673191, PMID:17694954, PMID:17765246, PMID:17935672, PMID:17955342, PMID:17964958, PMID:18022922, PMID:18096825, PMID:18206115, PMID:18239150, PMID:18243212, PMID:18247305, PMID:18263977, PMID:18279815, PMID:18325082, PMID:18339137, PMID:18355452, PMID:18400033, PMID:18503695, PMID:18607183, PMID:18648394, PMID:18677035, PMID:18700895, PMID:18701038, PMID:18718593, PMID:18757057, PMID:18847225, PMID:18929537, PMID:19001363, PMID:19007590, PMID:19013141, PMID:19020990, PMID:19026292, PMID:19040724, PMID:19062533, PMID:19073363, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19224862, PMID:19318025, PMID:19319977, PMID:19361455, PMID:19371225, PMID:19411563, PMID:19446849, PMID:19467224, PMID:19487412, PMID:19520913, PMID:19538517, PMID:19602640, PMID:19674976, PMID:19717150, PMID:19797716, PMID:19837725, PMID:19843101, PMID:20018285, PMID:20019594, PMID:20045108, PMID:20144596, PMID:20145306, PMID:20217239, PMID:20236128, PMID:20308432, PMID:20428891, PMID:20452591, PMID:20506408, PMID:20538126, PMID:20599862, PMID:20663204, PMID:20703241, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21145767, PMID:21146822, PMID:21157333, PMID:21276076, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21457052, PMID:21475731, PMID:21511053, PMID:21531209, PMID:21538688, PMID:21600525, PMID:21600530, PMID:21642693, PMID:21722902, PMID:21865347, PMID:21868016, PMID:21872251, PMID:21925044, PMID:21925660, PMID:21935675, PMID:21955034, PMID:21990180, PMID:22089669, PMID:22095935, PMID:22129472, PMID:22160468, PMID:22220933, PMID:22294733, PMID:22311046, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22417841, PMID:22425645, PMID:22487947, PMID:22509010, PMID:22528129, PMID:22544571, PMID:22683370, PMID:22691586, PMID:22698793, PMID:22859806, PMID:22881376, PMID:22883975, PMID:22910581, PMID:22923420, PMID:22998978, PMID:23021490, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23155708, PMID:23158915, PMID:23340035, PMID:23345538, PMID:23369702, PMID:23375686, PMID:23415438, PMID:23430853, PMID:23510778, PMID:23535506, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23815734, PMID:23820649, PMID:23833242, PMID:23956253, PMID:24014831, PMID:24033266, PMID:24055113, PMID:24075752, PMID:24082139, PMID:24088637, PMID:24163242, PMID:24234650, PMID:24249837, PMID:24281370, PMID:24284361, PMID:24336170, PMID:24338390, PMID:24373485, PMID:24420163, PMID:24450200, PMID:24503134, PMID:24507775, PMID:24529145, PMID:24585268, PMID:24627126, PMID:24671153, PMID:24722143, PMID:24918045, PMID:24956927, PMID:24988984, PMID:25014035, PMID:25043216, PMID:25154303, PMID:25234566, PMID:25248394, PMID:25282520, PMID:25333069, PMID:25378237, PMID:25386756, PMID:25412742, PMID:25414273, PMID:25437892, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25545329, PMID:25606447, PMID:25624525, PMID:25637381, PMID:25647241, PMID:25682026, PMID:25741862, PMID:25741868, PMID:25741870, PMID:25741871, PMID:25741872, PMID:25741873, PMID:25741874, PMID:25769531, PMID:25807990, PMID:25846081, PMID:25911074, PMID:25921077, PMID:25936317, PMID:25936346, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26046366, PMID:26077743, PMID:26081744, PMID:26220972, PMID:26238499, PMID:26327206, PMID:26332594, PMID:26342331, PMID:26343872, PMID:26361156, PMID:26415676, PMID:26433113, PMID:26467025, PMID:26510755, PMID:26608663, PMID:26632531, PMID:26633542, PMID:26723464, PMID:26748104, PMID:26755827, PMID:26802169, PMID:26875521, PMID:26892515, PMID:26894473, PMID:26927322, PMID:27050191, PMID:27135400, PMID:27153395, PMID:27175606, PMID:27206935, PMID:27247956, PMID:27294413, PMID:27497240, PMID:27542166, PMID:27578104, PMID:27578127, PMID:27578128, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27783906, PMID:27784735, PMID:27816806, PMID:27821657, PMID:27824480, PMID:27828139, PMID:27830735, PMID:27831900, PMID:27878139, PMID:27884173, PMID:27919364, PMID:27932355, PMID:27940769, PMID:27998977, PMID:28008010, PMID:28028493, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28159968, PMID:28161202, PMID:28169869, PMID:28235710, PMID:28349240, PMID:28379029, PMID:28391882, PMID:28458923, PMID:28475941, PMID:28492532, PMID:28502495, PMID:28502510, PMID:28645073, PMID:28873201, PMID:28874442, PMID:28895539, PMID:28932795, PMID:28964736, PMID:28965616, PMID:28993407, PMID:29172679, PMID:29213121, PMID:29233637, PMID:29269200, PMID:29284604, PMID:29290422, PMID:29292049, PMID:29353225, PMID:29399563, PMID:29572815, PMID:29576406, PMID:29693183, PMID:29720182, PMID:29802317, PMID:29874871, PMID:30108616, PMID:30270055, PMID:30270081, PMID:30270083, PMID:30270084, PMID:30293936, PMID:30311386, PMID:30333156, PMID:30415195, PMID:30583242, PMID:30586733, PMID:30592178, PMID:30592719, PMID:30745730, PMID:30795984, PMID:30876527, PMID:31106925, PMID:31345425, PMID:31689621, PMID:32113782, PMID:165423944, PMID:220236128 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:152,964,294...152,987,286
Ensembl chr 5:152,966,591...152,987,211
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:10357843, PMID:10764678, PMID:11668641, PMID:12175777, PMID:12730697, PMID:14727156, PMID:14727179, PMID:15099351, PMID:15166014, PMID:15358785, PMID:15654334, PMID:15772090, PMID:15893176, PMID:16183066, PMID:16211558, PMID:16224054, PMID:16424354, PMID:16465619, PMID:16554528, PMID:16571601, PMID:16777760, PMID:16909389, PMID:16912035, PMID:17094996, PMID:17140581, PMID:17170371, PMID:17316651, PMID:17461796, PMID:17502126, PMID:17765244, PMID:17804797, PMID:17971861, PMID:18028451, PMID:18197702, PMID:18250299, PMID:18262190, PMID:18266662, PMID:18300938, PMID:18354102, PMID:18436227, PMID:18559913, PMID:18631360, PMID:18710658, PMID:18718593, PMID:18799458, PMID:19001363, PMID:19022446, PMID:19081568, PMID:19191301, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20172854, PMID:20538126, PMID:20579540, PMID:20959675, PMID:21146822, PMID:21376320, PMID:21943799, PMID:22095935, PMID:22344438, PMID:22417841, PMID:22683120, PMID:22875854, PMID:22923420, PMID:22995991, PMID:23064986, PMID:23105118, PMID:23375686, PMID:23386946, PMID:23535506, PMID:23663650, PMID:23680767, PMID:23743349, PMID:23935525, PMID:23997648, PMID:24033266, PMID:24115837, PMID:24278757, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24785115, PMID:24793346, PMID:24808179, PMID:24859021, PMID:25014035, PMID:25046268, PMID:25278291, PMID:25412415, PMID:25525159, PMID:25600226, PMID:25741868, PMID:25744035, PMID:25904937, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26049403, PMID:26195630, PMID:26332594, PMID:26374825, PMID:26467025, PMID:26541928, PMID:26546829, PMID:26632531, PMID:26636822, PMID:26802169, PMID:26937405, PMID:27050191, PMID:27135400, PMID:27206942, PMID:27218270, PMID:27280970, PMID:27516387, PMID:27765764, PMID:27896130, PMID:27919364, PMID:27998977, PMID:28008010, PMID:28179607, PMID:28302345, PMID:28323660, PMID:28349888, PMID:28360401, PMID:28438747, PMID:28492532, PMID:28587771, PMID:28768753, PMID:28777095, PMID:28965616, PMID:29036232, PMID:29083407, PMID:29127338, PMID:29259136, PMID:29261184, PMID:29399563, PMID:29438441, PMID:29459468, PMID:29593013, PMID:29982529, PMID:29997226, PMID:30779729, PMID:31106297, PMID:31386798 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 4:86,275,130...86,292,435
Ensembl chr 4:86,275,717...86,292,431
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642, PMID:25741868 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr14:23,575,400...23,604,984
Ensembl chr14:23,576,085...23,604,834
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1562620, PMID:1576758, PMID:1598907, PMID:1731801, PMID:1737848, PMID:1907278, PMID:10735636, PMID:16174715, PMID:23246289, PMID:25741868, PMID:30311386 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
familial hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 treatment IEP RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::2677G>T/A(rs2032582)(human)
CTD PMID:24502637, PMID:26922556 RGD:11574565 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 susceptibility IAGP sitosterolemia;DNA:missense mutation: :p.G583C RGD PMID:16026620 RGD:1598659 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 susceptibility ISO sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP RGD PMID:24308182 RGD:8695929 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Alb albumin IAGP DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Angptl4 angiopoietin-like 4 ISO RGD PMID:15837923, PMID:12401877 RGD:1625354, RGD:1578349 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apob apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17658632, PMID:7627691, PMID:15716585 RGD:1578419, RGD:14401726 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IDA RGD PMID:11116209 RGD:1626277 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E treatment ISO
IMP
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:12871831, PMID:20530721, PMID:20937366, PMID:15118671, PMID:29459263, PMID:22762542 RGD:1331525, RGD:13703129, RGD:6903856 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP RGD PMID:23002367 RGD:14700877 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IEP mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IEP mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924) RGD PMID:15992611 RGD:1626649 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Kl Klotho IDA RGD PMID:10892340 RGD:1581732 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lcat lecithin cholesterol acyltransferase IDA RGD PMID:12935429 RGD:1581787 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:25619500 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lep leptin IEP mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lipc lipase C, hepatic type IDA
ISO
protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:1883393, PMID:12935429 RGD:1581787 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Lpl lipoprotein lipase treatment ISO
IDA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia
CTD
ClinVar
PMID:1598907, PMID:17658632, PMID:30311386, PMID:29931882 RGD:13794383 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mttp microsomal triglyceride transfer protein IEP RGD PMID:12191589 RGD:1625489 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hyperlipidemia ClinVar PMID:18533079, PMID:20800588, PMID:23140321, PMID:24033266, PMID:24093860, PMID:25740977, PMID:25741868, PMID:27600940, PMID:30311386 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
protein:increased phosphorylation:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:11457755, PMID:17895290 RGD:2292129 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plau plasminogen activator, urokinase ISO associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) RGD PMID:22119245 RGD:6903200 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr18:56,626,725...56,650,524
Ensembl chr18:56,626,712...56,728,968
JBrowse link
G Rgn regucalcin IMP RGD PMID:15375596 RGD:9590273 NCBI chr  X:1,833,484...1,848,904
Ensembl chr  X:1,833,492...1,848,904
JBrowse link
G Sdc1 syndecan 1 IMP RGD PMID:17403197 RGD:1643125 NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016
JBrowse link
G Serpinc1 serpin family C member 1 IEP protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpinf2 serpin family F member 2 IEP RGD PMID:2313941 RGD:1625536 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Shc1 SHC adaptor protein 1 IEP RGD PMID:15044008 RGD:1643177 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IEP protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
JBrowse link
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IEP mRNA:decreased expression:thoracic aorta RGD PMID:24615205 RGD:9586357 NCBI chr 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IDA
IEP
associated with Chronic Kidney Failure;mRNA:increased expression:kidney
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex
RGD PMID:16834981, PMID:19001732 RGD:1601559, RGD:2306735 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:18159007 RGD:2313110 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
familial hypobetalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by synonym: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: Hypobetalipoproteinemia, familial, 1
ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
ClinVar
OMIM
PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1731805, PMID:1793440, PMID:1939657, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:2903181, PMID:2909827, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:3975124, PMID:4031057, PMID:7229035, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:15984016, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24751931, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25335495, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
familial hypobetalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl3 angiopoietin-like 3 ISO ClinVar Annotator: match by OMIM:605019 OMIM
ClinVar
PMID:19075393, PMID:20942659, PMID:22062970, PMID:22247256 NCBI chr 5:117,698,590...117,706,729
Ensembl chr 5:117,698,764...117,705,808
JBrowse link
G Apob apolipoprotein B ISS OMIM:605019 MouseDO NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by null ClinVar PMID:19075393, PMID:20942659, PMID:22062970, PMID:22247256 NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
JBrowse link
Familial Hypobetalipoproteinemia, Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736, PMID:2843815, PMID:3473077 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810, PMID:2903181, PMID:7782284, PMID:8071315, PMID:8361539, PMID:8533758, PMID:8939939, PMID:10446076, PMID:10679949, PMID:10946006, PMID:12630961, PMID:16721486, PMID:17275380, PMID:18027103, PMID:18611256, PMID:19066957, PMID:20592474, PMID:22236406, PMID:23475612, PMID:24842304, PMID:25108285, PMID:27170061, PMID:27271787, PMID:27487388, PMID:27578136, PMID:28492532, PMID:30522860 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Lipase deficiency combined
ClinVar Annotator: match by OMIM:246650
OMIM
ClinVar
PMID:17994020, PMID:19820022, PMID:28492532 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by OMIM:207750
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar
CTD
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
DNA:missense mutation:exon:p.D156G (human)
ClinVar Annotator: match by OMIM:238600
ClinVar
OMIM
PMID:1351946, PMID:1400331, PMID:1479292, PMID:1505655, PMID:1511985, PMID:1512512, PMID:1530621, PMID:1562620, PMID:1576758, PMID:1598907, PMID:1639392, PMID:1674945, PMID:1702428, PMID:1731801, PMID:1737848, PMID:1752947, PMID:1872917, PMID:1907278, PMID:1937490, PMID:1969408, PMID:1975597, PMID:2010533, PMID:2038366, PMID:2110364, PMID:2121025, PMID:2294743, PMID:2349938, PMID:2394828, PMID:2536938, PMID:2914262, PMID:6645961, PMID:7647785, PMID:7818530, PMID:7906986, PMID:8096693, PMID:8099055, PMID:8135797, PMID:8199176, PMID:8228642, PMID:8288243, PMID:8325986, PMID:8486765, PMID:8541837, PMID:8567671, PMID:8843465, PMID:8858123, PMID:8872057, PMID:9225235, PMID:9401010, PMID:9714430, PMID:10364086, PMID:10407505, PMID:10517255, PMID:10735636, PMID:11134145, PMID:11334614, PMID:11893776, PMID:15840743, PMID:15877202, PMID:16174715, PMID:16972177, PMID:17717288, PMID:18068174, PMID:18350203, PMID:18649389, PMID:21146168, PMID:21159338, PMID:22095987, PMID:22129523, PMID:22239554, PMID:23246289, PMID:23484243, PMID:24033266, PMID:24212298, PMID:24291057, PMID:24793350, PMID:25741868, PMID:25966443, PMID:26342331, PMID:27055971, PMID:27573733, PMID:28438574, PMID:28492532, PMID:28606150, PMID:29153744, PMID:29288010, PMID:29748148, PMID:30150141, PMID:30311386, PMID:16431216, PMID:9973300, PMID:1907278 RGD:1580533, RGD:1556752, RGD:1302536 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
familial partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Lipe lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lipodystrophy, reverse partial
ClinVar Annotator: match by term: Familial partial lipodystrophy
ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:10441578, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10939567, PMID:10999791, PMID:11342468, PMID:11344241, PMID:11503164, PMID:12015247, PMID:12628721, PMID:12629077, PMID:12788894, PMID:12844477, PMID:12920062, PMID:12927431, PMID:14510863, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14749366, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15531479, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16174718, PMID:16241930, PMID:16278265, PMID:16440304, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17274801, PMID:17377071, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18795223, PMID:18926329, PMID:19220582, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19793595, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:20980393, PMID:21520333, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23328570, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25524705, PMID:25637381, PMID:25741868, PMID:25885670, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677, PMID:10655060 RGD:12791019 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
familial partial lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan
OMIM
ClinVar
PMID:2007407, PMID:10441578, PMID:10587585, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10939567, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11342468, PMID:11792809, PMID:12015247, PMID:12628721, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14607793, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16181372, PMID:16278265, PMID:16364671, PMID:16415042, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17377071, PMID:18256394, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18728124, PMID:18795223, PMID:18926329, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:21883346, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24721642, PMID:24846508, PMID:25163546, PMID:25214167, PMID:25351510, PMID:25367549, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27841971, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28663758, PMID:28785654, PMID:28874324, PMID:29078011, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
familial partial lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS ClinVar NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 3
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
ClinVar
OMIM
PMID:9467001, PMID:9792554, PMID:10523018, PMID:10622252, PMID:10851250, PMID:11788685, PMID:12453919, PMID:14671186, PMID:15254591, PMID:17299075, PMID:17356052, PMID:22461176, PMID:25157153, PMID:25741868, PMID:28492532 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
familial partial lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 4
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
ClinVar
OMIM
PMID:21345103, PMID:25741868, PMID:28492532 NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
JBrowse link
familial partial lipodystrophy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by OMIM:615238 OMIM
ClinVar
PMID:18654663, PMID:20049731 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
familial partial lipodystrophy type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar
OMIM
PMID:25741868 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Farber disease
ClinVar Annotator: match by term: Farber's lipogranulomatosis
ClinVar Annotator: match by OMIM:228000
OMIM
ClinVar
PMID:3037247, PMID:8955159, PMID:9128814, PMID:10610716, PMID:11241842, PMID:16951918, PMID:20560208, PMID:21893389, PMID:22565078, PMID:23707712, PMID:24033266, PMID:24164096, PMID:24614645, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:31680123 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
fatty liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 treatment IEP
ISO
associated with adult growth hormone deficiency RGD PMID:15995177, PMID:26362727, PMID:30130150 RGD:1598534, RGD:21408552, RGD:18936993 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Acaca acetyl-CoA carboxylase alpha IDA RGD PMID:16485039 RGD:1625727 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acacb acetyl-CoA carboxylase beta IDA RGD PMID:16485039 RGD:1625727 NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO
associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma
RGD PMID:17006986, PMID:20714777, PMID:16115302 RGD:1599139, RGD:5686883, RGD:5686674 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:30225267, PMID:19076162 RGD:21406435, RGD:2307264 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adk adenosine kinase ISS OMIM:228100 MouseDO NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:17332477 RGD:14349048 NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503, PMID:15837923 RGD:1625354 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apoa1 apolipoprotein A1 treatment IEP RGD PMID:30231880 RGD:25671436 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B IEP
ISO
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:12048068, PMID:17303181, PMID:17203948 RGD:2325770 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:29459263 RGD:13703129 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
JBrowse link
G Atp5if1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 5:150,719,570...150,723,287
Ensembl chr 5:150,719,569...150,723,321
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:88,126,519...88,136,063
Ensembl chr 2:88,126,667...88,135,410
JBrowse link
G Cat catalase IEP
ISO
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:10860543, PMID:21452373 RGD:5130871 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29684222, PMID:22983634 RGD:8548844 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver RGD PMID:28011329, PMID:28011329 RGD:14995306, RGD:14995306 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19788606 RGD:6893500 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Ctsb cathepsin B IEP mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP
ISO
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:18952117, PMID:19404342, PMID:14606109 RGD:4892244, RGD:1626302 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IMP RGD PMID:17526931 RGD:10400884 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Dhrs7 dehydrogenase/reductase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:95,522,577...95,541,393
Ensembl chr 6:95,522,577...95,541,393
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F2r coagulation factor II (thrombin) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134, PMID:21907177, PMID:22841818 NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced hepatic steatosis RGD PMID:17058218 RGD:1626440 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD PMID:24184811, PMID:32195457 RGD:25330354 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Foxa1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 6:78,516,579...78,549,669
Ensembl chr 6:78,545,804...78,549,669
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 IEP mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gck glucokinase IDA
ISO
associated with Hyperglycemia RGD PMID:22925001, PMID:22925001 RGD:7488945, RGD:7488945 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:19481104, PMID:30185098 RGD:14975167 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
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 chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Has3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr19:39,063,298...39,077,745
Ensembl chr19:39,063,998...39,077,722
JBrowse link
G Hfe homeostatic iron regulator no_association ISO Non-alcoholic steatohepatitis (NASH)
non-alcoholic fatty liver disease
RGD PMID:12105842, PMID:11473047 RGD:1601460, RGD:1601452 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 1:256,101,994...256,107,581
Ensembl chr 1:256,101,903...256,107,649
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:228100 MouseDO NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 IEP associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 IMP RGD PMID:18802068 RGD:4145478 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19084941 RGD:4889416 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO
IAGP
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:19205029, PMID:19076162 RGD:2307258, RGD:2307264 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807