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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:An inherited metabolic disorder that involves the creation and degradation of lipids. (DO)
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.


show annotations for term's descendants           Sort by:
 
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 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6816881 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoc2 apolipoprotein C2 no_association ISO DNA:missense mutation: :p.K19T (human) RGD PMID:7923858 RGD:1601206 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO CPT IA deficiency, OMIM:255120, D454G RGD PMID:9691089 RGD:1600732 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO infantile form CPT2 deficiency, OMIM:600649, R631C RGD PMID:1528846 RGD:1600742 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252231 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Decr1 2,4-dienoyl-CoA reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2332510 NCBI chr 5:29,411,172...29,439,054
Ensembl chr 5:29,411,172...29,439,018 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO desmosterolosis, OMIM:602398, Y471S, N294T, K306N RGD PMID:11519011 RGD:1600897 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Lep leptin IEP protein:increased expression:adipose tissue (rat) RGD PMID:30550969 RGD:25330351 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:1671786 PMID:1883393 PMID:15292318 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Mvk mevalonate kinase ISO mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T RGD PMID:1377680 RGD:1600528 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Npy5r neuropeptide Y receptor Y5 susceptibility ISO DNA:SNPs: :many RGD PMID:17426313 RGD:1625492 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO DNA:missense mutation:cds:p.L162V (human) RGD PMID:10828087 RGD:1580230 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17878938 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727 		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: 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: Isolated 17,20-lyase deficiency ClinVar PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
17-beta hydroxysteroid dehydrogenase 3 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: Testosterone 17-beta-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554 		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 5:29,411,172...29,439,054
Ensembl chr 5:29,411,172...29,439,018 		JBrowse link
G Nadk2 NAD kinase 2, mitochondrial ISO ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24847004 PMID:25741868 PMID:27940755 More... NCBI chr 2:58,117,674...58,159,815
Ensembl chr 2:58,117,674...58,159,808 		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: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human)		 ClinVar
OMIM
RGD		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 PMID:8533758 More... RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		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 PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		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:8533758 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		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 | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		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		 OMIM
ClinVar
CTD		 PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		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 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		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 OMIM
ClinVar		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		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 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		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 chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26428356 PMID:25583360 PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546 PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency OMIM
ClinVar		 PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Brix1 biogenesis of ribosomes BRX1 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,450,608...59,461,486
Ensembl chr 2:59,450,614...59,461,495 		JBrowse link
G C1qtnf3 C1q and TNF related 3 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,917,099...59,939,519
Ensembl chr 2:59,917,188...59,939,433 		JBrowse link
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752 		JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718 		JBrowse link
G Rad1 RAD1 checkpoint DNA exonuclease ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,461,597...59,469,707
Ensembl chr 2:59,461,607...59,469,689 		JBrowse link
G Rai14 retinoic acid induced 14 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,546,284...59,682,687
Ensembl chr 2:59,546,284...59,681,971 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:22987308 PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Ttc23l tetratricopeptide repeat domain 23-like ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,476,666...59,538,313
Ensembl chr 2:59,476,669...59,538,282 		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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		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 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp51 cytochrome P450, family 51 ISO RGD PMID:21705796 RGD:41412188 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
DNA:missense mutations:cds:multiple (human)		 CTD
ClinVar
RGD		 PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 PMID:15220035 PMID:16906539 PMID:27496950 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		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 OMIM
ClinVar		 PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		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 OMIM
ClinVar		 PMID:7558045 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		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 chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		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: Apolipoprotein c-III deficiency OMIM
ClinVar		 PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 More... NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
Apolipoprotein E, Deficiency or Defect of 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: Apolipoprotein e, deficiency or defect of ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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		 OMIM
ClinVar
CTD		 PMID:3860318 PMID:7593417 PMID:7593456 PMID:7608290 PMID:7670488 More... NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		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: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency OMIM
ClinVar		 PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:9536098 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
Atypical Krabbe Disease due to Saposin A 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: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29995202 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aunip aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,722,157...146,736,233
Ensembl chr 5:146,722,337...146,736,501 		JBrowse link
G Catsper4 cation channel, sperm associated 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942 		JBrowse link
G Cd52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348 		JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,356,575...146,404,155
Ensembl chr 5:146,356,576...146,404,060 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212 		JBrowse link
G Crybg2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454 		JBrowse link
G Extl1 exostosin-like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115 		JBrowse link
G Fam110d family with sequence similarity 110, member D ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 OMIM
ClinVar		 PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Lin28a lin-28 homolog A ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122 		JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421 		JBrowse link
G Mtfr1l mitochondrial fission regulator 1-like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784 		JBrowse link
G Pafah2 platelet-activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943 		JBrowse link
G Paqr7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,709,085...146,720,577
Ensembl chr 5:146,708,900...146,720,673 		JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
G Sh3bgrl3 SH3 domain binding glutamate-rich protein like 3 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331 		JBrowse link
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956 		JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526 		JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198 		JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000 		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: 3-Methylglutaconic aciduria type 2 ClinVar PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743 		JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		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-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 OMIM
ClinVar		 PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 More... NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		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 ISS
ISO		 OMIM:255110 | OMIM:600649 | OMIM:608836
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 | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2		 MouseDO
ClinVar		 PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Czib CXXC motif containing zinc binding protein ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar NCBI chr 5:122,648,333...122,657,767
Ensembl chr 5:122,648,411...122,656,910 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar PMID:2199596 PMID:2235122 PMID:3215194 PMID:9536098 PMID:9916797 More... NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309 		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: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile OMIM
ClinVar		 PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		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, ANTENATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal OMIM
ClinVar		 PMID:736528 PMID:835844 PMID:2647738 PMID:2762996 PMID:7711730 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		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 OMIM
ClinVar		 PMID:1598097 PMID:9399886 PMID:9536098 PMID:9686371 PMID:10384384 More... NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512 		JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547 		JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471 		JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2019602 PMID:7697869 PMID:7915755 PMID:8006521 PMID:8014582 More... RGD:1600872 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		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 OMIM
ClinVar		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		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
RGD		 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... RGD:1600621 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Tspo translocator protein IMP RGD PMID:29074640 RGD:150429771 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
G Tspoem1Vpl translocator protein; ZFN induced mutant1, Vpl IMP RGD PMID:29074640 RGD:150429771
G Tspoem2Vpl translocator protein; ZFN induced mutant2, Vpl IMP RGD PMID:29074640 RGD:150429771
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342 		JBrowse link
G Sar1b secretion associated, Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr10:36,024,443...36,054,067
Ensembl chr10:36,024,382...36,054,066 		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 term: CK syndrome OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		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: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency OMIM
ClinVar		 PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		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 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		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 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISS
ISO		 OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar Annotator: match by term: Congenital adrenal hyperplasia		 MouseDO
ClinVar		 PMID:8506298 PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		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 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		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
RGD		 PMID:8396144 PMID:9326943 PMID:9601054 PMID:11549685 PMID:12466376 More... RGD:4889141 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923 		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:7633460 PMID:8060486 PMID:10599696 PMID:10651755 PMID:10656999 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 More... RGD:4889128 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Ren renin ISO protein:increased expression:blood serum (human) RGD PMID:31505456 RGD:125097501 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS		 DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110		 ClinVar
MouseDO
RGD		 PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... RGD:1600070, RGD:4145592 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 More...
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: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency OMIM
ClinVar		 PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		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 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:28492532 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 More...
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: ADRENAL HYPERPLASIA V | ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 OMIM
ClinVar		 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2786493 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		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 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		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:25741868 PMID:28492532 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		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 term: Congenital bile acid synthesis defect 1 OMIM
ClinVar		 PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:28492532 NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:19175828 More... NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		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: Congenital bile acid synthesis defect 3 OMIM
ClinVar		 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		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: Congenital bile acid synthesis defect 4 OMIM
ClinVar		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		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: Congenital bile acid synthesis defect 5 OMIM
ClinVar		 PMID:25168382 PMID:25741868 PMID:28492532 NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020 		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: Congenital bile acid synthesis defect 6 OMIM
ClinVar		 PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160 		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: Congenital generalized lipodystrophy		 CTD
ClinVar
RGD		 PMID:19187773 RGD:10047097 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes		 CTD
ClinVar		 PMID:11479539 PMID:18093937 PMID:23564749 PMID:25741868 PMID:26282322 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		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 OMIM
ClinVar		 PMID:11967537 PMID:12765973 PMID:14557463 PMID:14715872 PMID:15181077 More... NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		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 Annotator: match by term: Congenital lipoatrophic diabetes OMIM
ClinVar		 PMID:11479539 PMID:11916958 PMID:12030893 PMID:15126564 PMID:18057387 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:269700 MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		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 term: Congenital generalized lipodystrophy type 3 OMIM
ClinVar		 PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		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: Congenital generalized lipodystrophy type 4 OMIM
ClinVar		 PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 More... NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120 		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 chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		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
RGD		 PMID:12858176 RGD:1625067 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		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 OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		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 OMIM
ClinVar		 PMID:21325058 PMID:25741868 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
cytochrome P450 oxidoreductase deficiency 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: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency OMIM
ClinVar		 PMID:9360545 PMID:9536098 PMID:12116245 PMID:14758361 PMID:15220035 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ClinVar NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316 		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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)		 ClinVar
OMIM
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		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		 OMIM
ClinVar
CTD		 PMID:11519011 PMID:16410790 PMID:21559050 PMID:21671375 PMID:21902244 More... NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
developmental and 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: Developmental and epileptic encephalopathy, 38 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156 		JBrowse link
developmental and 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: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 OMIM
ClinVar		 PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321 		JBrowse link
developmental and 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: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
developmental and 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: Developmental and epileptic encephalopathy, 80 ClinVar PMID:28492532 PMID:31256876 NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 OMIM
ClinVar		 PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
Developmental and Epileptic Encephalopathy 95 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigs phosphatidylinositol glycan anchor biosynthesis, class S ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 OMIM
ClinVar		 PMID:25741868 PMID:30269814 PMID:33410539 NCBI chr10:63,222,611...63,237,190
Ensembl chr10:63,222,572...63,237,187 		JBrowse link
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 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: Dysbetalipoproteinemia due to defect in apolipoprotein e-d ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21890736 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322881 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: therapeutic CTD PMID:18230960 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:25037058 PMID:32853627 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Bcl3 BCL3, transcription coactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Klf14 Kruppel-like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933 		JBrowse link
G Ldlr low density lipoprotein receptor ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20530721 PMID:27378433 RGD:12910104 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		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 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20567778 PMID:29988851 PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		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 Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 OMIM
ClinVar		 PMID:15292318 PMID:18364377 PMID:25741868 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Maco1 macoilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 5:147,012,416...147,075,265
Ensembl chr 5:147,012,867...147,075,001 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs12785878 G>T(human) RGD PMID:24073860 RGD:13703112 NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30585412 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172 		JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142 		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 OMIM
ClinVar		 PMID:21226579 PMID:21480869 PMID:25741868 PMID:26965621 PMID:28492532 NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647 		JBrowse link
G Tlr2 toll-like receptor 2 IGI RGD PMID:23295061 RGD:7241091 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tomm40 translocase of outer mitochondrial membrane 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:79,358,781...79,370,976
Ensembl chr 1:79,358,786...79,370,915 		JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17873875 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395 		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 OMIM
ClinVar		 PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 4:178,185,418...178,218,484 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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gla galactosidase, alpha ISO
IMP		 DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1753437 More... RGD:1601350, RGD:150429980 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:29563343 RGD:150429980
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G LOC100910714 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease ClinVar PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1753437 More... NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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 term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G LOC100910714 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388 		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 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		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: Familial apolipoprotein C-II deficiency OMIM
ClinVar		 PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb		 ClinVar
RGD		 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... RGD:1601200 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		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 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Lipc lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to OMIM
ClinVar		 PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		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 chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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 1D OMIM
ClinVar		 PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 More... NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
Familial Hyperbeta- and Prebetalipoproteinemia 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: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878321 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
Familial Hypercholanemia 1 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 1 ClinVar PMID:17495420 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Hypercholanemia, familial 1 ClinVar PMID:25326635 PMID:25741868 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Hypercholanemia, familial 1 OMIM
ClinVar		 PMID:12704386 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
Familial Hypercholanemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a1 solute carrier family 10 member 1 ISO ClinVar Annotator: match by term: Hypercholanemia, familial, 2 OMIM
ClinVar		 PMID:14660639 PMID:25418280 PMID:27882152 PMID:28835676 PMID:29658451 NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670 		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 PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar		 PMID:12522687 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apob apolipoprotein B ISO DNA:deletion:promoter, exon:
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
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
RGD		 PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... RGD:11527221 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:29166645 RGD:150520219 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Apoeem1Ejt apolipoprotein E; TALEN induced mutant 1, Ejt IMP RGD PMID:29166645 RGD:150520219
G Apoeem1Sage apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:29166645 RGD:150520219
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar		 PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar		 PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gk glycerol kinase IDA RGD PMID:10642898 RGD:13702898 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar		 PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:4351242 PMID:11326085 PMID:12016260 PMID:12464675 PMID:12788851 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G LOC691141 hypothetical protein LOC691141 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		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 Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:1998642 PMID:25741868 PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr14:21,950,466...21,981,395
Ensembl chr14:21,952,496...21,981,245 		JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		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: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440