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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