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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:nutrition disease
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Accession:DOID:374 term browser browse the term
Definition:An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. (DO)
Synonyms:exact_synonym: Nutrition Disorder;   Nutritional Disorder;   nutrition disorders;   nutritional disorders
 primary_id: MESH:D009748
 xref: EFO:0001069;   NCI:C26836
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
nutrition disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hap1 huntingtin-associated protein 1 ISO RGD PMID:11971876 RGD:1302538 NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126 		JBrowse link
G Tfrc transferrin receptor IEP protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
Abdominal Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO DNA:SNP:CDS: rs12794714 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctf1 cardiotrophin 1 ISS MouseDO NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 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 ISS MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352 		JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISS MouseDO NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968 		JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:25741909 More... NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169 		JBrowse link
abdominal obesity-metabolic syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO
ISS		 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
OMIM:193100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
DNA:missense mutation:cds:526C>T,p.R176W (human)		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
BILE ACID CONJUGATION DEFECT 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: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1 OMIM
ClinVar		 PMID:12704386 PMID:17495420 PMID:23415802 PMID:25741868 PMID:25741914 More... NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
biotin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO ClinVar Annotator: match by term: Biotin deficiency ClinVar PMID:88555 PMID:9099842 PMID:9158148 PMID:10400129 PMID:11313766 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ISS		 ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders
OMIM:301900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877 		JBrowse link
choline deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 IEP
IDA		 mRNA:increased expression:liver:
DNA:hypermethylation:liver:		 RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP
IDA		 mRNA:increased expression:liver:
DNA:hypermethylation:liver:		 RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794 		JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 More... NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751 		JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132 		JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288 		JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
G Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496 		JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224 		JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
G Rgs22 regulator of G-protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS		 ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... RGD:11049582 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
congenital leptin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lep leptin ISO ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 More... NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO
ISS		 OMIM:219500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency		 OMIM
MouseDO
CTD
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related condition ClinVar PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 More... NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-Related Disorder | ClinVar Annotator: match by term: PHIP-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 More... NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283 		JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
familial isolated deficiency of vitamin E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO
ISS		 ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency
OMIM:277460
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain IEP associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin IEP associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin IEP associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 IEP associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
HIV Wasting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739 		JBrowse link
G Cbs cystathionine beta synthase ISO
ISS		 DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
OMIM:236200 | OMIM:236250
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844 		JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 More... RGD:5508189 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743 		JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207 		JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316 		JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619 		JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996 		JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE		 CTD
OMIM
ClinVar		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:25741914 PMID:26036949 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:25741916 PMID:26036949 More... NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670 		JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741915 PMID:26036949 PMID:28749478 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia		 OMIM
CTD
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		JBrowse link
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5453458 PMID:17951468 PMID:25741868 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISS
ISO		 mRNA:decreased expression, protein:decreased expression
OMIM:603174
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A IEP protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G F2 coagulation factor II, thrombin treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)		 CTD
RGD		 PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
hypochromic microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcytic anemia with liver iron overload		 CTD
ClinVar		 PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Steap3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steap3 STEAP3 metalloreductase ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar		 PMID:22031863 NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519 		JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD		 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:		 RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type		 ClinVar
OMIM
RGD		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1		 OMIM
CTD
ClinVar		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Atp7a ATPase copper transporting alpha severity ISO
IEP		 mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)		 RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP
ISO		 associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP		 mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il6 interleukin 6 IEP associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)		 RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 IEP
ISO		 protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia		 ClinVar
RGD		 PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 More... RGD:1601513 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:		 CTD
RGD		 PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
Leptin Receptor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor ISO ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 More... NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprot leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:28492532 NCBI chr 5:116,289,843...116,301,951
Ensembl chr 5:116,289,822...116,301,988 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910 		JBrowse link
Malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Nefl neurofilament light chain IEP protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain IEP protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM:309541
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO
ISS		 ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Thap11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2		 OMIM
CTD
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG		 CTD
OMIM
ClinVar		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:34140661 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Dnm2 dynamin 2 ISS OMIM:206200 MouseDO NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: TMPRSS6-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18408718 PMID:18596229 PMID:19357398 More... NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624 		JBrowse link
morbid obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:22384010 RGD:13831306 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Apln apelin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma		 RGD PMID:19756893 PMID:15970339 RGD:2313938, RGD:1600932 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Aqp7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Cpe carboxypeptidase E ISO mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects RGD PMID:12530526 RGD:1626182 NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233 		JBrowse link
G Ctnnbl1 catenin, beta like 1 susceptibility
no_association		 ISO DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) RGD PMID:19245693 PMID:19228371 RGD:9850251, RGD:9850253 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:12883487 RGD:1626305 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:38,802,796...39,187,809
Ensembl chr12:38,802,004...39,188,375 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 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 CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097 		JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:29273807 PMID:29311635 PMID:11443223 PMID:12588803 RGD:1600755, RGD:1600750 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719 		JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032 		JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:15855352 RGD:1642381 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 onset ISO RGD PMID:16702999 RGD:1626135 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434 		JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Morbid obesity ClinVar PMID:9753710 PMID:10690291 PMID:25157153 PMID:28492532 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:25741868 PMID:28492532 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure		 OMIM
CTD
ClinVar		 PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022 		JBrowse link
MORM Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 More... RGD:12911209 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Zinc deficiency, transient neonatal
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956 		JBrowse link
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:28492532 PMID:30915432 PMID:31243445 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
nutritional deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccs copper chaperone for superoxide dismutase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Sod1 superoxide dismutase 1 IEP
ISO		 Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aacs acetoacetyl-CoA synthetase IEP mRNA:altered expression:thalamus, hypothalamus (rat) RGD PMID:19219059 RGD:2326191 NCBI chr12:31,113,098...31,156,411
Ensembl chr12:31,113,098...31,160,954 		JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 susceptibility
disease_progression		 ISO
IEP		 DNA:SNP:exon:p.R230C (rs9282541) (human)
mRNA:increased expression:liver (rat)		 RGD PMID:17287470 PMID:25612518 RGD:1601092, RGD:15045599 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:15562009 PMID:16199547 PMID:17236890 PMID:20685672 PMID:23275527 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 disease_progression IEP mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:15331430 RGD:1601095 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:left ventricle myocardium (rat)		 CTD
RGD		 PMID:20882379 PMID:33310031 RGD:329955450 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Ace angiotensin I converting enzyme no_association IEP
ISO		 protein:increased expression:liver RGD PMID:19361967 PMID:17164796 RGD:2325227, RGD:1601115 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Acly ATP citrate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:85,412,045...85,464,253
Ensembl chr10:85,412,049...85,463,320 		JBrowse link
G Acox1 acyl-CoA oxidase 1 treatment IEP RGD PMID:30298849 RGD:401960083 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Acp1 acid phosphatase 1 severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:2373509 PMID:9198310 RGD:1625289, RGD:2313187 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO
IEP		 mRNA:decreased expression:subcutaneous adipose tissue
mRNA, protein:increased expression:adipose tissue, liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20882379 PMID:16788709 PMID:1543733 RGD:1625735, RGD:1625737 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 IMP associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADCY3-related condition		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29311635 NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP
ISO		 associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with myocardial infarction; protein:decreased expression:plasma
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:10092513 PMID:14617771 PMID:16092047 PMID:19606374 PMID:18303100 More... RGD:1599149, RGD:2313239, RGD:5686809, RGD:5686813, RGD:8695927, RGD:14975146 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adipor1 adiponectin receptor 1 IEP
ISO		 mRNA:increased expression:liver
mRNA:decreased expression:lymphocyte		 RGD PMID:16483885 PMID:17391161 RGD:1625763, RGD:1625761 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment
severity		 IEP mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
associated with non-alcoholic fatty liver disease		 RGD PMID:16483885 PMID:30225267 PMID:23838384 PMID:30131158 RGD:1625763, RGD:21406435, RGD:8695926, RGD:25824942 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		JBrowse link
G Adm adrenomedullin ISO mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:16507638 RGD:1625369 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		JBrowse link
G Adra2a adrenoceptor alpha 2A ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365 		JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:10404816 RGD:1300265 NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355 		JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility
no_association		 ISO DNA:polymorphisms: :p.R16G, p.Q27E
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15687340 PMID:17027833 PMID:17221209 PMID:15118671 PMID:12161655 RGD:1601122, RGD:1601119, RGD:1331525, RGD:737773 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Adrb3 adrenoceptor beta 3 no_association
susceptibility		 ISO DNA:missense mutation:cds:p.W64R (human)
mRNA:decreased expression:interscapular region, brown adipose tissue (mouse)
DNA:missense mutation:cds:p.W64R rs4994 (human)
DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 More... RGD:1559325, RGD:5684359, RGD:5684409, RGD:5684773 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Aff4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751 		JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:plasma (human) RGD PMID:23046363 PMID:22761461 RGD:7243247, RGD:7243250 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agrp agouti related neuropeptide IEP
ISO		 mRNA:increased expression:hypothalamus
DNA:polymorphism:exon:c.199G>A, pAla67Thr (human)
DNA:polymorphism:promoter:-38C>T (human)
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 PMID:18001323 More... RGD:2311538, RGD:1625232, RGD:1300272, RGD:2314000, RGD:1331525 NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584 		JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
DNA:polymorphism: :p.T174M		 RGD PMID:16713443 PMID:16514903 RGD:1601142, RGD:1601143 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:15793237 RGD:2313554 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 PMID:30813227 PMID:31306034 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility ISO protein:increased expression:serum RGD PMID:17011519 PMID:19228823 PMID:17011519 RGD:1625793, RGD:2313809, RGD:1625793 NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999 		JBrowse link
G Ak1 adenylate kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:15855311 RGD:1601154 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO mRNA, protein:increased expression:adipose tissue RGD PMID:15494612 RGD:1626148 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO mRNA, protein:increased expression:adipose tissue RGD PMID:15494612 RGD:1626148 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO
IEP		 protein:decreased activity:rectus abdominis (human)
protein:decreased expression:plantaris (rat)		 RGD PMID:12663464 PMID:17923673 PMID:18508911 RGD:2313409, RGD:2313406, RGD:2313320 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISS OMIM:601665 MouseDO NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type IEP
ISO		 mRNA:increased expression:adipose tissue, fat cell RGD PMID:20978234 PMID:18780776 RGD:5509594, RGD:5509628 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA:increased expression:adipose tissue (mouse)
mRNA:increased expression:peripheral blood mononuclear cell (human)		 RGD PMID:17379835 PMID:19596146 RGD:2313913, RGD:2313884 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Amh anti-Mullerian hormone ISO protein:decreased expression:serum RGD PMID:17109858 RGD:1601182 NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Ang angiogenin ISO protein:increased expression:adipose tissue RGD PMID:22748184 RGD:6892722 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Angptl4 angiopoietin-like 4 resistance ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:28842503 PMID:17210919 RGD:1625353 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Angptl6 angiopoietin-like 6 ISS OMIM:601665 MouseDO NCBI chr 8:19,413,617...19,419,925
Ensembl chr 8:19,413,619...19,419,925 		JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO
ISS		 OMIM:601665 MouseDO
RGD		 PMID:18162531 RGD:9681744 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:17977742 RGD:2313916 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apcdd1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070 		JBrowse link
G Apln apelin IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression RGD PMID:9933608 PMID:12725089 RGD:2313959, RGD:1601185 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:serum RGD PMID:9933608 PMID:9002300 RGD:2313959, RGD:1601191 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apoa4 apolipoprotein A4 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoa5 apolipoprotein A5 ISO DNA:SNP: :rs662799 (human) GAD
RGD		 PMID:15118671 PMID:25606423 RGD:1331525, RGD:329901774 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apob apolipoprotein B ISO associated with Insulin Resistance;protein:increased expression:plasma RGD
GAD		 PMID:19592617 PMID:15118671 RGD:2313974, RGD:1331525 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IEP mRNA:increased expression:liver RGD PMID:8781289 RGD:1626278 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Apoc1 apolipoprotein C1 ISO RGD PMID:11723061 RGD:2313951 NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD
GAD		 PMID:9002300 PMID:15118671 RGD:1601191, RGD:1331525 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apod apolipoprotein D ISO DNA:polymorphism RGD PMID:7913935 RGD:2311179 NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20975297 PMID:9002300 PMID:15118671 PMID:17192461 RGD:1601191, RGD:1331525, RGD:1601230 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein treatment ISO mRNA,protein:increased expression:adipocyte,plasma: RGD PMID:19672057 RGD:10054260 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Aqp7 aquaporin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325777 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Ar androgen receptor susceptibility ISO
ISS		 DNA:repeats: :GGN, CAG
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG
OMIM:601665		 MouseDO
RGD		 PMID:12532157 PMID:15118671 PMID:18805913 RGD:1601246, RGD:1331525, RGD:2306771 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO protein:decreased expression:hypothalamus, cilium (mouse) RGD PMID:22581473 RGD:11553936 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Asip agouti signaling protein susceptibility ISO
ISS		 DNA, mRNA:deletion, insertions, increased expression: multiple organs
CTD Direct Evidence: marker/mechanism
OMIM:601665		 CTD
MouseDO
RGD		 PMID:1473152 PMID:8146154 PMID:25447408 PMID:25448685 PMID:32937126 More... RGD:1625724 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 susceptibility ISO RGD PMID:16286513 RGD:1601250 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment IDA RGD PMID:25822172 RGD:14696745 NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment IDA RGD PMID:26880535 RGD:13782133 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO RGD PMID:19549744 RGD:14696798 NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IDA RGD PMID:27874268 RGD:13792665 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Atp5mc2 ATP synthase membrane subunit c locus 2 ISO RGD PMID:26709097 RGD:11535661 NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733 		JBrowse link
G Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 5:129,265,789...129,292,463
Ensembl chr 5:129,266,404...129,293,556 		JBrowse link
G Atrn attractin ISO RGD PMID:10086355 RGD:734623 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO
IEP		 associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue
protein:decreased expression:plasma
mRNA, protein:decreased expression:fat pad, liver,plasma
mRNA:decreased expression:fat pad		 RGD PMID:29755407 PMID:21136593 PMID:19934249 PMID:19934249 RGD:153350147, RGD:153350156, RGD:153350157, RGD:153350157 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:urine RGD PMID:15517379 RGD:1601309 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:increased expression:heart left ventricle RGD PMID:18070754 RGD:2292682 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO mRNA:decreased expression:adipose tissue RGD PMID:22187378 RGD:14390162 NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 no_association ISO
ISS		 DNA:mutation: :p.M390R (human)
OMIM:601665		 MouseDO
RGD		 PMID:14993910 PMID:33722691 RGD:1601314, RGD:243065268 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 onset ISO
ISS		 DNA:SNPs
OMIM:601665		 MouseDO
RGD		 PMID:17003356 RGD:1601311 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:decreased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:17184856 RGD:1625733 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:plasma
ClinVar Annotator: match by term: Obesity		 ClinVar
RGD		 PMID:11840487 PMID:25741868 PMID:28492532 PMID:17151862 RGD:10059350 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP RGD PMID:18070754 RGD:2292682 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO RGD PMID:9367152 RGD:734661 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G C3 complement C3 treatment IDA RGD PMID:23118029 RGD:7411625 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5ar1 complement C5a receptor 1 treatment IDA RGD PMID:23118029 RGD:7411625 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Cadm2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:31341224 RGD:15092077 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400 		JBrowse link
G Canx calnexin ISO protein:increased expression:subcutaneous adipose tissue RGD PMID:18567819 RGD:2314284 NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821 		JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs RGD PMID:16752174 RGD:1625047 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Car3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280 		JBrowse link
G Cartpt CART prepropeptide no_association
susceptibility		 ISO DNA:deletion, substitution: :1457delA, 1475A>G (human)
DNA:missense mutation:exon:729G>C, p.L34F (human)
DNA:polymorphism:3' utr (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:11522684 PMID:15326462 PMID:25741868 PMID:10574510 PMID:11522684 More... RGD:2313634, RGD:1625192, RGD:2313633 NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Cast calpastatin ISO ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency ClinVar PMID:18604207 PMID:22210313 PMID:23383060 PMID:25741868 PMID:28492532 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:22492718 RGD:6784520 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 IEP RGD PMID:22492718 RGD:6784520 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Cckar cholecystokinin A receptor IAGP
ISO		 DNA:deletion RGD PMID:9530226 PMID:9192855 RGD:7257724, RGD:734711 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO
IEP		 protein, mRNA:increased expression:plasma, fat
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29035695 PMID:17803693 PMID:18469848 RGD:2306993, RGD:2307038 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 IEP RGD PMID:21862610 RGD:5683906 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased expression:serum RGD PMID:18469848 RGD:2307038 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:18492752 RGD:6483834 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd36 CD36 molecule IEP
ISO
IMP		 mRNA, protein:increased expression:liver, gastrocnemius
protein:increased expression:skeletal muscle, T-tubule		 RGD PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 RGD:6893497, RGD:6893542, RGD:11041118, RGD:11041132 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule treatment IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:29035695 PMID:21670556 RGD:7248753 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:21817098 PMID:20660932 RGD:5490592, RGD:5490970 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) RGD PMID:19634152 RGD:2314609 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:liver RGD PMID:23357529 RGD:10045356 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IEP RGD PMID:22194422 RGD:8552660 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO RGD PMID:16627576 RGD:2301355 NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: ADCY3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314 		JBrowse link
G Cers1 ceramide synthase 1 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:30605666 RGD:156431060 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035 		JBrowse link
G Cfd complement factor D IEP
ISO		 mRNA, protein:decreased expression:adipocyte, serum RGD PMID:2197880 PMID:14564690 RGD:1624327, RGD:1624324 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20975297 PMID:16186410 RGD:1625390 NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481 		JBrowse link
G Cnr1 cannabinoid receptor 1 no_association ISO
IMP
IEP		 DNA:polymorphism:exon:3813A>G (human)
DNA:polymorphism: :1256C>A, 1419+1G>C (human)
CTD Direct Evidence: marker/mechanism
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus
DNA:hypermethylation:promoter, peripheral blood mononuclear cell		 CTD
RGD		 PMID:18722357 PMID:17405839 PMID:17292652 PMID:19530697 PMID:19325539 More... RGD:1626325, RGD:1626326, RGD:2314629, RGD:2314630, RGD:401827956, RGD:401827956 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cntf ciliary neurotrophic factor no_association ISO DNA:point mutation:intron:G>A RGD PMID:14747836 PMID:12404108 RGD:1626114, RGD:1626113 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain IEP mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism:exon RGD PMID:17497175 RGD:2289713 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Cox7c cytochrome c oxidase subunit 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:16,841,771...16,843,796
Ensembl chr 2:16,840,837...16,843,760 		JBrowse link
G Cox8b cytochrome c oxidase, subunit VIIIb IDA RGD PMID:16027000 RGD:2301397 NCBI chr 1:195,977,183...195,978,643 JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16959692 PMID:11836301 RGD:2313645 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Cpe carboxypeptidase E no_association ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601665		 CTD
MouseDO
RGD		 PMID:15358678 PMID:23434795 PMID:9662053 PMID:7663508 RGD:1626184, RGD:1626181 NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP RGD PMID:15481768 RGD:2303517 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment IEP mRNA:decreased expression:liver
mRNA:decreased expression:left ventricle myocardium (rat)		 RGD PMID:16751799 PMID:33310031 RGD:2311345, RGD:329955450 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:11564446 RGD:5508830 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:decreased expression:anterior pituitary gland (rat) RGD PMID:10600923 RGD:5508840 NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO DNA:SNP:CDS:861C>T (human) RGD PMID:14724656 RGD:1626226 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Crp C-reactive protein disease_progression ISO
IEP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (rat)		 CTD
RGD		 PMID:24042701 PMID:20660932 PMID:25612518 RGD:5490970, RGD:15045599 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Cst3 cystatin C IEP
ISO		 protein:increased expression:plasma (rat)
protein:increased expression:serum (human)		 RGD PMID:18946178 PMID:18374694 RGD:2314297, RGD:2314346 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Ctsc cathepsin C IEP RGD PMID:3705543 RGD:1599645 NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G Ctss cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:21156398 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:SNP: :p.T280M (human) RGD PMID:20523302 RGD:4891903 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:25016030 RGD:13673852 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Cyb5a cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317704 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) RGD PMID:17223345 RGD:2307312 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 IEP protein:decreased expression:liver RGD PMID:18589557 RGD:2301455 NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP
ISO		 protein:increased activity:liver,fat
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23954404 PMID:17049493 RGD:1626307 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO associated with hypertension:DNA:SNP:CDS: rs12794714 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
G Dcn decorin IEP RGD PMID:17244723 RGD:1600551 NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270 		JBrowse link
G Dcxr dicarbonyl and L-xylulose reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:106,006,404...106,008,293 JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25741868 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Defb1 defensin beta 1 IEP mRNA:decreased expression:kidney RGD PMID:11340353 RGD:4892260 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 no_association
treatment		 ISO RGD PMID:14569040 PMID:10802663 PMID:18183944 RGD:1625597, RGD:734536, RGD:10401058 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Dio2 iodothyronine deiodinase 2 no_association ISO RGD PMID:17077128 RGD:1626439 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809 		JBrowse link
G Dip2c disco-interacting protein 2 homolog C ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:26825290 PMID:27328748 PMID:28492532 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:24614070 PMID:25741868 PMID:28492532 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
IDA		 protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) RGD PMID:15983225 PMID:17191082 RGD:7248449, RGD:7248552 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 IEP
ISO		 mRNA:decreased expression:ventral tegmental area (rat)
DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple		 RGD PMID:18477764 PMID:17108814 PMID:15939106 RGD:2311581, RGD:1600904, RGD:1600905 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd4 dopamine receptor D4 ISO
IEP		 protein:decreased expression:kidney (rat) GAD
RGD		 PMID:15118671 PMID:20810614 RGD:1331525, RGD:7248616 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp1 dual specificity phosphatase 1 susceptibility ISO RGD PMID:16814733 RGD:2298673 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Edn1 endothelin 1 ISO DNA:polymorphism:exon:p.K198N (human) RGD PMID:17444275 RGD:1625065 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098442 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (mouse) RGD PMID:3624263 RGD:5131534 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ehd1 EH-domain containing 1 IEP RGD PMID:21365757 RGD:8661255 NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212 		JBrowse link
G Elovl6 ELOVL fatty acid elongase 6 ISO mRNA,protein:increased expression:liver: RGD PMID:31988048 RGD:21403676 NCBI chr 2:218,063,682...218,174,767
Ensembl chr 2:218,063,804...218,171,186 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO Obesity, OMIM:601665;DNA:polymorphism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity		 CTD
ClinVar
OMIM
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:1601042 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 3:139,575,659...139,598,163
Ensembl chr 3:139,575,686...139,598,154 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26441656 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Esr1 estrogen receptor 1 ISO
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20667977 PMID:11095962 PMID:22230815 RGD:8553065, RGD:8553199 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:22230815 RGD:8553199 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Esrra estrogen related receptor, alpha no_association ISO RGD PMID:16755280 RGD:1625637 NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745 		JBrowse link
G F2 coagulation factor II, thrombin ISO
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22841818 PMID:21210148 PMID:23628972 RGD:5147773, RGD:7387310 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F7 coagulation factor VII ISO protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)		 RGD PMID:19329212 PMID:16739871 PMID:14513073 PMID:9258277 RGD:2312379, RGD:1625710, RGD:2312395, RGD:2312404 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19103437 PMID:20716455 PMID:15809662 RGD:1625726 NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677 		JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced obesity RGD PMID:17058218 RGD:1626440 NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788 		JBrowse link
G Fabp2 fatty acid binding protein 2 onset
no_association		 ISO DNA:polymorphism:CDS:p.A54T (human) RGD PMID:15620432 PMID:14981227 PMID:17211557 RGD:1578458, RGD:1626400, RGD:1626407 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089 		JBrowse link
G Fabp3 fatty acid binding protein 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle RGD PMID:17515913 RGD:2307328 NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718 		JBrowse link
G Fabp4 fatty acid binding protein 4 ISO RGD PMID:8910278 RGD:737747 NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578 		JBrowse link
G Fadd Fas associated via death domain IEP protein:increased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fads1 fatty acid desaturase 1 IEP protein:decreased expression:microsomes, liver RGD PMID:8446010 RGD:1625421 NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734 		JBrowse link
G Fanca FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancc FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:24184811 PMID:26797127 NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP
ISO		 mRNA:increased expression:hypothalamus:
mRNA:increased expression:adipose tissue:		 RGD PMID:21430024 PMID:21430024 RGD:10402094, RGD:10402094 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgg fibrinogen gamma chain IEP protein:decreased expression:plasma RGD PMID:22134356 RGD:11352709 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Fggy FGGY carbohydrate kinase domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29220483 NCBI chr 5:110,398,866...110,786,019
Ensembl chr 5:110,398,863...110,786,017 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27071101 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:12865419 RGD:1627574 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326 		JBrowse link
G Foxc2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T(human) RGD PMID:15601967 RGD:1601218 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxo3 forkhead box O3 IEP
ISO		 protein:increased expression:myocardium:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23954404 PMID:16467659 RGD:10402201 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase severity ISO
IEP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs9939609 (human)
DNA:SNP: :rs9939609 (human)
DNA:SNP:intron:rs17817449 (human)
DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human)
DNA:SNP: :rs3751812 (human)
mRNA:increased expression:pancreas
mRNA, protein:increased expression:liver		 CTD
RGD		 PMID:17496892 PMID:19079260 PMID:19079261 PMID:19151714 PMID:19918250 More... RGD:329812007, RGD:329812010, RGD:329812016, RGD:329812040, RGD:329845887, RGD:329901774, RGD:329951013, RGD:329951016 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Fxn frataxin ISO DNA:deletion:exon (mouse) RGD PMID:17404227 RGD:2307045 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO
IEP		 mRNA, protein:increased expression:white fat
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver		 RGD PMID:15923630 PMID:19230846 RGD:2307347, RGD:2307340 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism RGD PMID:12080446 RGD:1626491 NCBI chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769 		JBrowse link
G Gal galanin and GMAP prepropeptide no_association ISO protein:increased expression:plasma RGD PMID:15930442 PMID:11220530 RGD:1625748, RGD:1624334 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959 		JBrowse link
G Galp galanin-like peptide IEP mRNA:decreased expression:arcuate nucleus RGD PMID:15256810 RGD:2313739 NCBI chr 1:67,684,023...67,703,121
Ensembl chr 1:67,684,025...67,702,269 		JBrowse link
G Galr1 galanin receptor 1 no_association ISO RGD PMID:15930442 RGD:1625748 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase treatment IEP RGD PMID:27987997 RGD:13792668 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gas7 growth arrest specific 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:20065960 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929 		JBrowse link
G Gck glucokinase IDA DNA, mRNA, protein:hypermethylation, increased expression:liver RGD PMID:21239437 RGD:7488967 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gckr glucokinase regulator no_association ISO RGD PMID:12739015 RGD:1626607 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20882379 PMID:11118009 RGD:1625423 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8923850 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide susceptibility ISO ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO DNA:point mutation:exon:F279L RGD PMID:16511600 RGD:1625270 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Gip gastric inhibitory polypeptide ISO
IEP		 protein:increased expression:plasma (rat)
associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human)		 RGD PMID:3546047 PMID:18063845 PMID:19375579 RGD:2312551, RGD:2312547, RGD:2312588 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503 		JBrowse link
G Gipr gastric inhibitory polypeptide receptor susceptibility ISO DNA:polymorphism:intron 1 C>A (rs2302382) (human)
mRNA:splice variant:pancreatic islet (mouse)
mRNA:reduced expression:fat tissue (human)		 RGD PMID:12068290 PMID:19254363 PMID:17971513 PMID:17395281 RGD:737714, RGD:2312615, RGD:2312612, RGD:2312616 NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462 		JBrowse link
G Gja5 gap junction protein, alpha 5 IEP mRNA, protein:decreased expression:mesenteric artery RGD PMID:18324386 RGD:7207466 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 More... NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glp1r glucagon-like peptide 1 receptor IEP mRNA:decreased expression:hypothalamus medial zone RGD PMID:15279492 RGD:1624351 NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241 		JBrowse link
G Glrx glutaredoxin IEP protein:increased expression:renal visceral adipose: RGD PMID:23404913 RGD:9686064 NCBI chr 2:5,341,873...5,351,686
Ensembl chr 2:5,341,885...5,351,680 		JBrowse link
G Glul glutamate-ammonia ligase IDA
ISO		 protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20882379 PMID:15481771 RGD:2301479 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism
associated with Polycystic Ovary Syndrome;DNA:polymorphism: :393T>C (human)
ClinVar Annotator: match by term: Obesity		 CTD
ClinVar
RGD		 PMID:11784876 PMID:12970262 PMID:17062894 PMID:21525160 PMID:23281139 More... RGD:11568045 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15961981 PMID:16141801 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gnpda2 glucosamine-6-phosphate deaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr14:38,520,663...38,538,713
Ensembl chr14:38,520,705...38,538,713 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP protein:increased expression:skeletal muscle tissue, T-tubule (rat) RGD PMID:23743348 RGD:11041118 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP mRNA:increased expression:pancreatic islet RGD PMID:9032096 RGD:2313659 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpr12 G protein-coupled receptor 12 ISS OMIM:601665 MouseDO NCBI chr12:8,522,709...8,525,875
Ensembl chr12:8,522,953...8,527,973 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15184668 PMID:30298849 RGD:401960083 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP
ISO		 mRNA:decreased expression:adipose tissue (rat)
protein:decreased expression, activity:plasma (mouse)
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:embryo, blastocyst
protein:decreased expression:plasma		 CTD
RGD		 PMID:11328671 PMID:19270708 PMID:19212806 PMID:18562625 PMID:21862610 More... RGD:2307430, RGD:2312633, RGD:5683906, RGD:401827913, RGD:401827923 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979 		JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:decreased expression:gonadal fat pad (mouse) RGD PMID:20150287 RGD:5687771 NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 IEP mRNA:decreased expression:liver RGD PMID:31063713 RGD:14701042 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Gucy2c guanylate cyclase 2C ISS OMIM:601665 MouseDO NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase IEP
ISO		 protein:increased expression:skeletal muscle
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20882379 PMID:16088331 RGD:2302228 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Hcrt hypocretin neuropeptide precursor IEP
ISO		 mRNA:increased expression:perifornical nucleus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:27071101 PMID:12560202 RGD:1358428 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA,protein:decreased expression:mononuclear cell, adipose tissue: RGD PMID:24086512 RGD:9681453 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) RGD PMID:10705106 RGD:1601449 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum RGD PMID:12706940 RGD:1642704 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO associated with hepatocellular carcinoma;RNA:decreased expression:liver: RGD PMID:31321740 RGD:155882550 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hk1 hexokinase 1 susceptibility IDA
ISO		 RGD PMID:12524468 PMID:131232 RGD:1601528, RGD:1601527 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hk2 hexokinase 2 ISO
IEP		 mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20882379 PMID:11319725 PMID:16555472 RGD:2313227, RGD:1624365 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO RGD PMID:10742101 RGD:1601569 NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
G Hmgb2 high mobility group box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr16:32,710,651...32,713,230
Ensembl chr16:32,710,658...32,713,140 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 IEP protein:decreased activity:liver (rat) RGD PMID:1685984 RGD:2326155 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18334666 PMID:18375438 PMID:19171794 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hoxb5 homeo box B5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22484627 NCBI chr10:81,269,372...81,271,580
Ensembl chr10:81,269,372...81,271,580 		JBrowse link
G Hp haptoglobin treatment ISO
IEP
IDA		 protein:increased expression:serum
mRNA:increased expression:white fat		 RGD PMID:15181041 PMID:11807829 PMID:17161237 PMID:19917068 RGD:1626346, RGD:1626349, RGD:1626339, RGD:9685197 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hrh3 histamine receptor H3 IDA RGD PMID:17189541 RGD:1626405 NCBI chr 3:167,191,551...167,196,642
Ensembl chr 3:167,191,558...167,196,642 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17628001 PMID:21786805 PMID:15131764 PMID:16914598 PMID:15118671 RGD:1625073, RGD:1625071, RGD:1331525 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 resistance ISO
IEP		 from transgenic mice expressing human HSD11B2
mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat		 RGD PMID:15793240 PMID:17208436 RGD:1625083, RGD:1625081 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) RGD PMID:11319647 RGD:1626642 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B IEP protein:increase expression:arcuate nucleus RGD PMID:10564740 RGD:1626450 NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility
no_association		 ISO DNA:polymorphism:promoter:-1438G>A
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16491645 PMID:17097612 PMID:16328014 PMID:16491645 RGD:1624369, RGD:1624370, RGD:1624369 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C susceptibility ISO DNA:polymorphism:promoter:-759C>T
associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17702092 PMID:19142110 PMID:15048662 PMID:17016522 RGD:1624991, RGD:1624982 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
IEP		 protein:increased secretion:plasma (human)
protein:increased expression:submandibular gland (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11782876 PMID:20004360 PMID:20973827 RGD:4145463, RGD:4145329 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO RGD PMID:14969338 RGD:1626475 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Ifng interferon gamma IEP associated with Asthma;protein:increased expression:serum RGD PMID:19575934 RGD:2311494 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP mRNA:decreased expression:heart (rat) RGD PMID:11009458 RGD:12904882 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11528401 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22537059 PMID:17259371 PMID:17426323 RGD:1626479, RGD:1626478 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP mRNA, protein:decreased expression:pancreatic fat pad RGD PMID:22067319 RGD:10402755 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO protein:increased expression:liver: RGD PMID:15685173 RGD:10045952 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Il10 interleukin 10 IEP
ISO		 protein:increase expression:serum RGD PMID:18787467 PMID:28843383 RGD:2308945, RGD:14975146 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:altered expression:skeletal muscle, plasma RGD PMID:18697873 RGD:2313573 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il18 interleukin 18 treatment IEP
ISO		 RGD PMID:20490358 PMID:16732281 RGD:7175343, RGD:14695532 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP		 protein:increased expression:plasma (mouse)
protein:increased expression:kidney (rat)		 RGD PMID:16567518 PMID:23150506 PMID:20490358 PMID:24146106 PMID:28843383 RGD:1626637, RGD:7175086, RGD:7175343, RGD:10450599, RGD:14975146 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO mRNA, protein:increased expression:adipose tissue RGD PMID:12975454 PMID:12716739 RGD:1626664, RGD:1626665 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il3 interleukin 3 ISO protein: decreased expression: plasma RGD PMID:21203453 RGD:5686875 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
G Il6 interleukin 6 ISO
IEP		 associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
mRNA:increased expression:islet of Langerhans
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20141834 PMID:24042701 PMID:16493118 PMID:19228869 PMID:21826222 RGD:1601582, RGD:2307257, RGD:10402828 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor susceptibility ISO DNA:duplication
protein:increased expression:serum
DNA:polymorphism: :p.D358A
DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human)		 RGD PMID:12917504 PMID:17434052 PMID:16817825 PMID:17984249 RGD:1625428, RGD:1625429, RGD:1625430, RGD:10402807 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:skeletal muscle, white adipose tissue		 CTD
RGD		 PMID:19668215 PMID:23349329 PMID:23349329 RGD:12911211, RGD:12911211 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO DNA:SNPs: :rs2276047,snp8,rs9886(human) RGD PMID:15220217 RGD:1626127 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:8923850 PMID:11528401 PMID:29035695 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irs1 insulin receptor substrate 1 IDA
ISO		 protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23954404 PMID:22982470 RGD:7207062 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:monocyte (human)		 CTD
RGD		 PMID:29035695 PMID:21446916 RGD:329901665 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 IEP RGD PMID:22134356 RGD:11352709 NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708 		JBrowse link
G Jak2 Janus kinase 2 ISO
IEP		 protein:decreased expression:hypothalamus RGD PMID:14630696 PMID:23397595 RGD:1627661, RGD:10411893 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:heart RGD PMID:30629164 RGD:401900736 NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: NR0B2-related condition ClinVar PMID:7889573 PMID:9024139 PMID:9927399 PMID:10753933 PMID:10973849 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27605626 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Kctd15 potassium channel tetramerization domain containing 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 1:87,258,658...87,271,979
Ensembl chr 1:87,258,658...87,273,497 		JBrowse link
G Kdm3a lysine demethylase 3A ISO
ISS		 OMIM:601665 MouseDO
RGD		 PMID:19875498 RGD:9590220 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
G Lactb lactamase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18344982 NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539 		JBrowse link
G Lbp lipopolysaccharide binding protein treatment IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23349936 PMID:19917068 RGD:9685197 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586 		JBrowse link
G Lcn2 lipocalin 2 IEP
ISO		 mRNA:increased expression:epididymal fat pad, adipose cell (rat)
mRNA:decreased expression:ovary, testicle
protein:increased expression:serum		 RGD PMID:18292240 PMID:32627017 PMID:21143924 RGD:2316514, RGD:126790490, RGD:126790530 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554529 PMID:15118671 RGD:1331525 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Lep leptin no_association
treatment		 IEP
IMP
ISO
IDA
ISS		 protein:increased expression:serum
mouse protein in a rat model
DNA:nonsense mutation:cds:
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
OMIM:601665
CTD Direct Evidence: marker/mechanism|therapeutic		 ClinVar
MouseDO
CTD
RGD		 PMID:9202122 PMID:9502777 PMID:9826672 PMID:17517446 PMID:18515891 More... RGD:5128551, RGD:5128629, RGD:2311132, RGD:1643130, RGD:1331525, RGD:2311134, RGD:10053612, RGD:10053638, RGD:8549777, RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepm1Kyo leptin; ENU induced mutant1, Kyo IMP RGD PMID:23800849 RGD:8549777
G Lepr leptin receptor susceptibility
treatment
no_association
sexual_dimorphism
disease_progression		 ISO
IAGP
IMP
ISS		 mRNA:decreased expression:lung
DNA:polymorphism:exon:p.Q223R (human)
DNA:missense mutation:CDS:p.Q269P (rat)
protein:increased expression:hippocampus,astrocyte:
compared to age-matched lean +/fa rats
compared to heterozygous controls +/fa
compared to BN
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency
CTD Direct Evidence: marker/mechanism
OMIM:601665
DNA:mutations:cds: : (rat)
DNA:mutations::cds: : (rat)		 ClinVar
CTD
MouseDO
RGD		 PMID:3519326 PMID:8666155 PMID:11354636 PMID:11380591 PMID:11443193 More... RGD:5129154, RGD:1600612, RGD:5128855, RGD:729297, RGD:1331525, RGD:10411891, RGD:10412018, RGD:10412023, RGD:10412038, RGD:12911217, RGD:628910, RGD:628581, RGD:7365117, RGD:12910507, RGD:12911217, RGD:401965412, RGD:401960103, RGD:401965413, RGD:401965414 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem2 leptin receptor; TALEN induced mutant 2 IMP RGD PMID:27225180 RGD:12910507
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin disease_progression IMP RGD PMID:27465994 PMID:27465994 RGD:12911217, RGD:12911217
G Leprem3 leptin receptor; TALEN induced mutant 3 IMP RGD PMID:27225180 RGD:12910507
G Leprfa leptin receptor; fa mutant sexual_dimorphism IAGP compared to BN
compared to heterozygous controls +/fa
compared to age-matched lean +/fa rats		 RGD PMID:20159938 PMID:11500530 PMID:9843879 RGD:7365117, RGD:628581, RGD:628910
G Leprot leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity ClinVar PMID:28492532 NCBI chr 5:116,289,843...116,301,951
Ensembl chr 5:116,289,822...116,301,988 		JBrowse link
G Lipc lipase C, hepatic type ISO
IAGP		 associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)
protein:altered expression:liver, plasma (rat)		 RGD PMID:12843191 PMID:11544558 RGD:2308835, RGD:2308784 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lipe lipase E, hormone sensitive type IEP mRNA:decreased expression:white fat RGD PMID:17712951 RGD:2313580 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310 		JBrowse link
G Lipg lipase G, endothelial type ISO protein:increased expression:plasma RGD PMID:16772345 RGD:1641819 NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260 		JBrowse link
G Lpl lipoprotein lipase treatment IEP
ISO
IDA		 mRNA:increased expression:white fat
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18344982 PMID:17712951 PMID:18952837 PMID:28514832 PMID:27160499 RGD:2313580, RGD:2313300, RGD:13793401, RGD:13794378 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO protein:increased phosphorylation:endometrium (human) RGD PMID:20074784 RGD:13782055 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO protein:increased phosphorylation:endometrium (human) RGD PMID:20074784 RGD:13782055 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mapt microtubule-associated protein tau IDA RGD PMID:25257559 RGD:13800921 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mbl1 mannose binding lectin 1 ISO protein:decreased secretion:plasma (mouse) RGD PMID:16955210 RGD:4889156 NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:missense mutations:cds:p.R52C, p.G57E (human) RGD PMID:16955210 RGD:4889156 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mc3r melanocortin 3 receptor susceptibility ISO
ISS		 DNA:point mutation:I183N
DNA:missense mutations:cds:p.T6K, p.V81I (human)
OMIM:601665
ClinVar Annotator: match by term: Obesity		 MouseDO
ClinVar
RGD		 PMID:19091795 PMID:25741868 PMID:28492532 PMID:11889220 PMID:15118671 More... RGD:1625178, RGD:1331525, RGD:6484587 NCBI chr 3:161,016,347...161,017,444
Ensembl chr 3:161,016,347...161,017,444 		JBrowse link
G Mc4r melanocortin 4 receptor ISO
IMP
IEP
ISS		 DNA:nonsense mutation:cds:p.K314X (rat)
mRNA:decreased expression:hypothalamus (rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant
OMIM:601665
mRNA, protein:decreased expression:liver (rat)		 CTD
ClinVar
MouseDO
RGD		 PMID:9267995 PMID:10078568 PMID:10199800 PMID:10577903 PMID:10592235 More... RGD:1600756, RGD:1331525, RGD:6478803, RGD:6484144, RGD:6484210, RGD:13825242, RGD:329951016 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719 		JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP DNA:nonsense mutation:cds:p.K314X RGD PMID:21527895 PMID:24400148 RGD:6478803, RGD:13825242
G Mchr1 melanin-concentrating hormone receptor 1 IEP mRNA:increased expression:hypothalamus RGD PMID:15363890 RGD:1624360 NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032 		JBrowse link
G Me1 malic enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Mfn2 mitofusin 2 ISO
IEP		 mRNA:decreased expression:skeletal muscle tissue (human)
mRNA:decreased expression:liver (rat)		 RGD PMID:12598526 PMID:25336449 RGD:1601412, RGD:12880438 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Mif macrophage migration inhibitory factor ISO DNA:polymorphisms:promoter
mRNA, protein:increased expression:mononuclear cell, plasma		 RGD PMID:16247506 PMID:15472203 RGD:1641950, RGD:1641953 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Mir107 microRNA 107 ISO RNA:decreased expression:liver: RGD PMID:21120623 RGD:14975298 NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853 		JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710 		JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629 		JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:serum RGD PMID:28970282 PMID:27856635 PMID:29479888 RGD:21079445, RGD:21079446, RGD:24922220 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir184 microRNA 184 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:pancreatic islet RGD PMID:31118273 RGD:25823139 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir23a microRNA 23a ISO associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: RGD PMID:31321740 RGD:155882550 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Mir23b microRNA 23b ISO associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: RGD PMID:31321740 RGD:155882550 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763 		JBrowse link
G Mir34a microRNA 34a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mkks MKKS centrosomal shuttling protein no_association ISO
ISS		 OMIM:601665 MouseDO
RGD		 PMID:15483080 PMID:10973251 RGD:1601414, RGD:1581208 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:adipose tissue RGD PMID:15169894 PMID:12529376 RGD:1642022, RGD:1642023 NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21156398 PMID:17512313 RGD:1642026 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:12905068 PMID:25741868 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation: :p.A64V (human) RGD PMID:16060290 RGD:2300401 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:21726645 RGD:6480475 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Mtch2 mitochondrial carrier 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP mRNA, protein:decreased expression:hypothalamus RGD PMID:25807795 RGD:11570513 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphisms RGD PMID:15635487 PMID:15635487 RGD:1625486, RGD:1625486 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IEP mRNA:decreased expression:pancreas (rat) RGD PMID:22421529 RGD:7240547 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:31064749 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myod1 myogenic differentiation 1 IEP mRNA:decreased expression:plantaris RGD PMID:22349736 PMID:18508911 RGD:9686079, RGD:2313320 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Myog myogenin IEP mRNA:decreased expression:plantaris RGD PMID:18508911 RGD:2313320 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23834033 PMID:17618961 RGD:1642336 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 IEP protein:increased expression:artery RGD PMID:17515452 RGD:2314435 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISS OMIM:601665 MouseDO NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664 		JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO RGD PMID:14557830 RGD:1642050 NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 IEP mRNA:decreased expression:epididymal fat pad RGD PMID:20559011 RGD:13822707 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Negr1 neuronal growth regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 2:245,624,460...246,359,605
Ensembl chr 2:245,624,435...246,356,730 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601665		 CTD
MouseDO		 PMID:16446448 PMID:21285402 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO mRNA:increased expression:pancreas RGD PMID:15979049 RGD:1625044 NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:liver macrophage:
protein:decreased expression:hepatocyte :		 RGD PMID:32102936 PMID:32102936 RGD:21201281, RGD:21201281 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20808804 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625 		JBrowse link
G Nmb neuromedin B susceptibility ISO
IEP		 protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss RGD PMID:15585758 PMID:1709601 PMID:11194934 RGD:1642059, RGD:1642063, RGD:1642062 NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190 		JBrowse link
G Nmu neuromedin U susceptibility IDA
ISO		 DNA:polymorphisms:cds:p.R165W,p.A19E RGD PMID:17706946 PMID:16984985 PMID:15448684 RGD:1642093, RGD:1642094, RGD:1642095 NCBI chr14:31,844,564...31,872,196
Ensembl chr14:31,844,728...31,872,192 		JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase IEP protein:decreased expression:gastrocnemius, soleus RGD PMID:25761734 RGD:13513980 NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:16316351 RGD:1642132 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:sputum
protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse)		 RGD PMID:18098375 PMID:21896669 RGD:4891935, RGD:5509059 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP protein:decreased expression:artery RGD PMID:17623751 PMID:29180887 RGD:2292133, RGD:13504728 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nox4 NADPH oxidase 4 treatment IEP RGD PMID:30298849 RGD:401960083 NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151714 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Nppa natriuretic peptide A ISO associated with Heart Failure; RGD PMID:23566312 RGD:7247714 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B treatment ISO
IEP		 associated with Diabetes Mellitus, Type 2
mRNA:decreased expression:heart
associated with hypoxia; protein:increased expression:blood serum (rat)		 RGD PMID:21959345 PMID:24009719 PMID:33310031 RGD:5685647, RGD:7327171, RGD:329955450 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Npy neuropeptide Y IEP mRNA, protein:increased expression:hypothalamus RGD PMID:17447163 RGD:10448938 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 susceptibility ISO
IEP
ISS		 associated with Hyperinsulinemia
mRNA:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism
OMIM:601665		 CTD
MouseDO
RGD		 PMID:20975297 PMID:9861026 PMID:17447163 RGD:1642306, RGD:10448938 NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO
IEP		 mRNA:increased expression:hypothalamus RGD PMID:17019604 PMID:17447163 RGD:1642379, RGD:10448938 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Npy5r neuropeptide Y receptor Y5 susceptibility ISO
IEP		 DNA:polymorphisms
mRNA:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10849579 PMID:10849579 PMID:15118671 PMID:17447163 RGD:1625493, RGD:1331525, RGD:10448938 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17405841 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 More... RGD:1600912 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 disease_progression ISO
IEP		 mRNA:increased expression:liver (rat) RGD PMID:17108812 PMID:20939869 PMID:25612518 RGD:1626248, RGD:13506790, RGD:15045599 NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 disease_progression ISO
IEP		 mRNA:increased expression:liver (rat) RGD PMID:17108812 PMID:25612518 RGD:1626248, RGD:15045599 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 disease_progression IEP mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 no_association IDA
ISO		 associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) RGD
GAD		 PMID:20723946 PMID:16725041 PMID:15118671 PMID:18246526 RGD:4892206, RGD:1601498, RGD:1331525, RGD:7174717 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 treatment IEP RGD PMID:30298849 RGD:401960083 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Nrf1 nuclear respiratory factor 1 treatment IEP mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity		 CTD
ClinVar		 PMID:15494731 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Nucb2 nucleobindin 2 IEP protein:increased expression:adipose tissue: RGD PMID:22641054 RGD:9831187 NCBI chr 1:170,750,830...170,787,356
Ensembl chr 1:170,750,877...170,787,353 		JBrowse link
G Nudc nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: Obesity, mild, early-onset		 ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr 5:145,758,006...145,771,390
Ensembl chr 5:145,758,002...145,771,425 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Oprm1 opioid receptor, mu 1 treatment IEP
ISO
IMP		 DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus
DNA:hypermethylation:promoter, peripheral blood mononuclear cell		 RGD PMID:31258545 PMID:31258545 PMID:16876155 RGD:401827956, RGD:401827956, RGD:401842391 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Otc ornithine transcarbamylase IEP protein:increased activity:liver (rat) RGD PMID:1330956 RGD:4144087 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 IEP mRNA:decreased expression:thalamus (rat) RGD PMID:19219059 RGD:2326191 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23563609 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO
ISS		 DNA:missense mutation:cds: p.G483R (human)
CTD Direct Evidence: marker/mechanism
OMIM:601665
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity		 CTD
MouseDO
ClinVar
RGD		 PMID:18604207 PMID:25741868 PMID:28492532 PMID:9207799 PMID:15189116 RGD:1601274, RGD:1357925 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor IAGP
ISO		 protein:increased expression:brainstem RGD PMID:15012590 PMID:11680901 RGD:1642350, RGD:1642351 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pde3a phosphodiesterase 3A IEP mRNA:decreased expression:heart RGD PMID:9648839 RGD:2300415 NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:34618683 RGD:242170038 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO RGD PMID:15897476 RGD:1642637 NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO mRNA:increased expression:exocrine pancreas (human) RGD PMID:15979049 RGD:1625044 NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064 		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 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125 		JBrowse link
G Pgf placental growth factor ISO associated with Pre-eclampsia;protein:increased expression:serum
associated with pancreatic cancer;protein:increased expression:plasma (human)		 RGD PMID:16020476 PMID:16769024 PMID:26861455 RGD:1642385, RGD:1642384, RGD:14349030 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pgr progesterone receptor ISO RGD PMID:14557830 RGD:1642050 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:21949398 RGD:6482700 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IEP
ISO		 protein:decreased expression:soleus
protein:decreased tyrosine phosphorylation:skeletal muscle, liver		 RGD PMID:16123202 PMID:9399964 RGD:1625220, RGD:1625218 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:12818410 RGD:2311677 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21372607 RGD:6484121 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Plin1 perilipin 1 susceptibility ISO DNA:snp:intron:g.11482G>A (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15001633 PMID:11371650 PMID:15985482 RGD:737723, RGD:1581041 NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISS OMIM:601665 MouseDO NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709 		JBrowse link
G Pmch pro-melanin-concentrating hormone IEP
ISO		 associated with Hyperphagia;protein:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12355323 PMID:15363890 PMID:12453827 RGD:1624360, RGD:1642486 NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250 		JBrowse link
G Pnlip pancreatic lipase susceptibility IAGP RGD PMID:15883013 RGD:1358859 NCBI chr 1:257,774,012...257,811,656
Ensembl chr 1:257,798,581...257,811,654 		JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 IEP RGD PMID:11431482 RGD:14985224 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
G Pomc proopiomelanocortin ISO
ISS		 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to
OMIM:601665
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... RGD:1357925 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pon2 paraoxonase 2 IEP protein:increased expression:white adipose tissue RGD PMID:21365757 RGD:8661255 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:left ventricle myocardium (rat)		 CTD
RGD		 PMID:11089532 PMID:30738174 PMID:33310031 RGD:329955450 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 PMID:20176998 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma susceptibility
treatment		 IEP
ISO		 mRNA:increased expression:adipose tissue
DNA:point mutation:exon:P115Q
DNA:polymorphism
mRNA:decreased expression:retroperitoneal fat pad
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity		 OMIM
CTD
ClinVar
RGD		 PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 More... RGD:2301884, RGD:1601443, RGD:2301847, RGD:2301859, RGD:1331525, RGD:401960083 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA
ISO
IEP		 mRNA:increased expression:retroperitoneal fat pad (rat)
mRNA:decreased expression:left ventricle myocardium (rat)		 RGD PMID:23256146 PMID:23180161 PMID:22401878 PMID:33310031 RGD:7241848, RGD:7242011, RGD:7242183, RGD:329955450 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppargc1b PPARG coactivator 1 beta resistance ISO DNA:polymorphism: :p.A203P
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, variation in		 CTD
ClinVar
RGD		 PMID:15863669 PMID:30738174 PMID:15863669 RGD:1642501 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA:increased expression:blood (human) RGD PMID:32496587 RGD:150383342 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601 		JBrowse link
G Ppm1l protein phosphatase, Mg2+/Mn2+ dependent, 1L ISO CTD Direct Evidence: marker/mechanism CTD PMID:18344982 NCBI chr 2:153,566,653...153,839,434
Ensembl chr 2:153,566,653...153,839,434 		JBrowse link
G Prg2 proteoglycan 2, pro eosinophil major basic protein ISO mRNA:decreased expression:placenta (human) RGD PMID:28125591 RGD:40902990 NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933 		JBrowse link
G Prkcb protein kinase C, beta IEP mRNA, protein:increased expression:mononuclear cell RGD PMID:17180352 RGD:1625512 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Prkcd protein kinase C, delta IEP protein:decreased expression:heart ventricle RGD PMID:11478406 RGD:1642533 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Prkch protein kinase C, eta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23563609 NCBI chr 6:92,292,000...92,490,663
Ensembl chr 6:92,292,000...92,490,654 		JBrowse link
G Prkci protein kinase C, iota ISS OMIM:601665 MouseDO NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 IEP protein:increased expression:kidney, glomerulus RGD PMID:23454089 RGD:7777114 NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080 		JBrowse link
G Prl prolactin ISO RGD PMID:8388614 RGD:1642559 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Prlh prolactin releasing hormone IDA
ISS		 OMIM:601665 MouseDO
RGD		 PMID:15854142 RGD:1641829 NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Prlhr prolactin releasing hormone receptor IAGP RGD PMID:15854142 RGD:1641829 NCBI chr 1:259,606,704...259,608,391
Ensembl chr 1:259,606,704...259,608,391 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Prox1 prospero homeobox 1 ISS OMIM:601665 MouseDO NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21156398 PMID:21978752 RGD:5508307 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10744717 PMID:20075852 NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504 		JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F IEP
ISO		 protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05) RGD PMID:7666792 PMID:9218523 PMID:7769120 RGD:1642732, RGD:1642733, RGD:1642727 NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023 		JBrowse link
G Pyy peptide YY ISO ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10898754 PMID:11825645 PMID:16368708 NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815 		JBrowse link
G Rab21 RAB21, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 7:50,904,050...50,928,890
Ensembl chr 7:50,904,057...50,928,839 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15459175 PMID:19116176 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 IEP protein:increased expression:serum: RGD PMID:31284705 PMID:30873215 RGD:15036824, RGD:15036825 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression
ameliorates		 IEP
ISO		 mRNA, protein:decreased expression:adipose tissue, serum
protein:increased expression:blood serum (human)		 RGD PMID:18401839 PMID:17292720 PMID:21585349 RGD:2302016, RGD:329845862, RGD:329853312 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO RGD PMID:18356846 RGD:2298856 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ren renin ISO mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) RGD PMID:22648117 RGD:6784503 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Retn resistin ISO mRNA, protein:increased expression:subcutaneous adipose tissue, serum
DNA:SNP:promoter:-420G>C (rs1862513) (human)		 RGD PMID:22816026 PMID:17598818 PMID:11201732 RGD:7207072, RGD:7207155, RGD:7207158 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Rhoa ras homolog family member A IEP protein:increased expression:membrane, aorta, skeletal muscle RGD PMID:16267124 RGD:2298881 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased phosphorylation:skeletal muscle RGD PMID:15604215 RGD:1642978 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Rsrc2 arginine and serine rich coiled-coil 2 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr12:32,839,840...32,859,820
Ensembl chr12:32,839,809...32,859,799 		JBrowse link
G Rxra retinoid X receptor alpha susceptibility ISO RGD PMID:15936932 RGD:1643104 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Sat1 spermidine/spermine N1-acetyl transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr  X:40,158,354...40,161,641
Ensembl chr  X:40,157,046...40,196,813 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:30723319 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562 		JBrowse link
G Sdc1 syndecan 1 ISO
IEP		 mRNA:increased expression:liver RGD PMID:15189116 PMID:11522680 RGD:1357925, RGD:1643129 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Sdc3 syndecan 3 ISO ClinVar Annotator: match by term: Obesity, association with
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17018662 NCBI chr 5:142,965,659...142,998,390
Ensembl chr 5:142,965,591...142,996,480 		JBrowse link
G Selp selectin P ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet RGD PMID:19228864 RGD:2312291 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Serpina12 serpin family A member 12 treatment IDA RGD PMID:16030142 RGD:1547845 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23819014 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 ISO
IEP		 protein:increased expression:serum (rat) RGD PMID:17491674 PMID:24424059 RGD:2312347, RGD:8633067 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sftpa1 surfactant protein A1 IEP protein:increased expression:lung RGD PMID:15136884 RGD:4143472 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B IEP protein:increased expression:lung RGD PMID:15136884 RGD:4143472 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO
ISS		 DNA:translocation
OMIM:601665
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition | ClinVar Annotator: match by term: UCP3-related condition
ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition		 MouseDO
ClinVar
RGD		 PMID:2152513 PMID:16924270 PMID:19401419 PMID:21512513 PMID:23778136 More... RGD:1624165 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
G Sirt1 sirtuin 1 treatment IMP
IEP
ISO		 protein:decreased expression:ovary
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:24184811 PMID:24773342 PMID:24135502 RGD:9585762, RGD:9586064 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sirt3 sirtuin 3 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23956348 PMID:21901160 RGD:9586047 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Sirt6 sirtuin 6 IEP protein:decreased expression:ovary RGD PMID:24135502 RGD:9586064 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Slc10a1 solute carrier family 10 member 1 disease_progression IEP mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670 		JBrowse link
G Slc16a7 solute carrier family 16 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 7:61,043,667...61,211,547
Ensembl chr 7:61,051,167...61,154,994 		JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20956498 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27401566 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27401566 NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612 		JBrowse link
G Slc27a1 solute carrier family 27 member 1 susceptibility ISO
IEP		 protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:16611988 PMID:15281014 RGD:1642790, RGD:1642794 NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 treatment ISO associated with Polycystic Ovary Syndrome RGD PMID:24842895 RGD:12879503 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 3:147,267,373...147,271,842
Ensembl chr 3:147,267,373...147,271,844 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO RGD PMID:11191352 RGD:1643191 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 susceptibility ISO DNA:SNPs RGD PMID:15331564 RGD:1625271 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 no_association
susceptibility		 ISO DNA:polymorphism RGD PMID:16674552 PMID:12490667 RGD:1625653, RGD:1625655 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 IEP protein:decreased expression:kidney cortex RGD PMID:16757903 RGD:1625672 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Obesity ClinVar 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 Snap25 synaptosome associated protein 25 ISS OMIM:601665 MouseDO NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 IEP mRNA, protein:increased expression:white fat RGD PMID:11027633 RGD:2298920 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 IEP
ISO		 mRNA, protein:increased expression:white fat
mRNA:decreased expression:subcutaneous adipose tissue
mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue		 RGD PMID:11027633 PMID:16920065 PMID:15331532 RGD:2298920, RGD:1625676, RGD:2313790 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24042701 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317704 PMID:23956348 PMID:30738174 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 ISO DNA:SNP: :p.T228A (human) RGD PMID:11532984 RGD:1642744 NCBI chr 1:239,107,882...239,330,276
Ensembl chr 1:239,108,777...239,330,169 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO mRNA:increased expression:adipose tissue RGD PMID:11294850 RGD:2300062 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Sqle squalene epoxidase ISO RGD PMID:15556298 RGD:1581399 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:liver (rat) RGD PMID:20098742 RGD:4891511 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity		 CTD
ClinVar		 PMID:10900012 PMID:25741868 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP protein:increased expression:fat cell, nucleus RGD PMID:9786926 RGD:2308843 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 IDA protein:decreased phosphorylation:hypothalamus RGD PMID:23397595 RGD:10411893 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 treatment IDA RGD PMID:20978234 RGD:5509594 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stk11 serine/threonine kinase 11 IEP protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G Tbc1d1 TBC1 domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16893906 PMID:18325908 PMID:18931681 NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499 		JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO mRNA:increased expression:carotid artery RGD PMID:12409963 RGD:1601447 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
G Tf transferrin IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20882379 PMID:16267817 RGD:1601520 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tfam transcription factor A, mitochondrial treatment ISO
IEP		 mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:21862610 PMID:33310031 RGD:5683906, RGD:329955450 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062801 PMID:20882379 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO
IEP		 associated with hypertension;protein:increased expression:blood
protein:increased expression:platelet
protein:increased expression:adipose tissue		 RGD PMID:15944724 PMID:16477387 PMID:16253647 RGD:1601579, RGD:1601561, RGD:1601563 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Th tyrosine hydroxylase resistance ISO DNA:polymorphism:intron:g.1170_1173dupTCAT (human) RGD PMID:16251897 RGD:1601632 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Thbd thrombomodulin severity ISO protein:increased expression:plasma RGD PMID:16651309 RGD:1601640 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Thbs1 thrombospondin 1 ISO mRNA,protein:increased expression:mononuclear cell, adipose tissue: RGD PMID:24086512 RGD:9681453 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:plasma RGD PMID:17512313 RGD:1642026 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:18787058 RGD:2312681 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO
IMP		 RGD PMID:19144836 PMID:17053832 PMID:19144836 RGD:2312510, RGD:1620653, RGD:2312510 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tmem18 transmembrane protein 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 6:47,206,845...47,214,294
Ensembl chr 6:47,206,845...47,214,294 		JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9502777 PMID:11328671 PMID:20141834 PMID:29035695 PMID:24146106 More... RGD:10450599, RGD:14975146 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:12935365 RGD:1624179 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11782876 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17347480 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
G Tsc1 TSC complex subunit 1 IDA DNA:hypermethylation:promoter RGD PMID:25807795 RGD:11570513 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tub TUB bipartite transcription factor no_association
susceptibility		 ISO
ISS		 DNA:splice-site mutation
OMIM:601665		 MouseDO
RGD		 PMID:8772727 PMID:8612280 RGD:1625564, RGD:1625565 NCBI chr 1:163,008,198...163,030,958
Ensembl chr 1:162,951,931...163,026,812 		JBrowse link
G Tyk2 tyrosine kinase 2 ISS OMIM:601665 MouseDO NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Ucn urocortin treatment ISO RGD PMID:17932219 RGD:1642774 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Ucp1 uncoupling protein 1 no_association ISO DNA:polymorphism: :-3826A>G (human)
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:15592485 PMID:8968850 RGD:1624977 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852 		JBrowse link
G Ucp2 uncoupling protein 2 susceptibility ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11381268 PMID:17870627 PMID:11381268 RGD:2313512, RGD:737761 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 susceptibility
no_association		 ISO DNA:SNP:exon:p.V102I (human)
DNA:polymorphism:promoter:-55C>T (human)
DNA:polymorphism:exon (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A | ClinVar Annotator: match by term: UCP3-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:9769326 PMID:10618503 PMID:21544083 PMID:25741868 PMID:28492532 More... RGD:1625189, RGD:2313518, RGD:2313506, RGD:2313526, RGD:1331525, RGD:2313519 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924 		JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19260948 RGD:2312763 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vgf VGF nerve growth factor inducible ISO CTD Direct Evidence: therapeutic CTD PMID:12177191 NCBI chr12:19,637,313...19,645,123
Ensembl chr12:19,637,320...19,640,341 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO associated with hepatocellular carcinoma;RNA:decreased expression:liver: RGD PMID:31321740 RGD:155882550 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G Vldlr very low density lipoprotein receptor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20975297 PMID:11557677 RGD:1625568 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma		 RGD PMID:16631442 PMID:16739871 RGD:1625711, RGD:1625710 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wnt10b Wnt family member 10B ISO RGD PMID:17578883 PMID:16477437 RGD:2326237, RGD:2300029 NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892 		JBrowse link
G Wnt3a Wnt family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr10:44,034,174...44,078,366
Ensembl chr10:44,034,194...44,078,324 		JBrowse link
G Xdh xanthine dehydrogenase treatment IEP RGD PMID:7616299 RGD:13210504 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236 		JBrowse link
G Zc3h10 zinc finger CCCH type containing 10 ISO CTD Direct Evidence: therapeutic CTD PMID:31775033 NCBI chr 7:973,415...977,742
Ensembl chr 7:972,855...979,349 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771 		JBrowse link
G Zfp169 zinc finger protein 169 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr17:16,139,204...16,167,242
Ensembl chr17:16,139,253...16,169,914 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325 		JBrowse link
G Zfr2 zinc finger RNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 7:8,466,768...8,485,593
Ensembl chr 7:8,466,753...8,485,538 		JBrowse link
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay		 OMIM
CTD
ClinVar		 PMID:15494731 PMID:25741868 PMID:27884935 PMID:28492532 PMID:29100083 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183 		JBrowse link
overnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:renal artery (rat) RGD PMID:28958692 RGD:13450942 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
Pediatric Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25137265 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25137265 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase treatment ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs17817449 (human)		 CTD
RGD		 PMID:25137265 PMID:26849546 RGD:11054066 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:increased expression:blood plasma (human) RGD PMID:25356519 RGD:329853302 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
pernicious anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:4434116 PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
Potassium Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 IEP protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:15355967 RGD:7243096 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP mRNA, protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:17804457 RGD:8554499 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Prader-Willi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:15788704 PMID:15057669 RGD:1642818, RGD:12905043 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15613151 RGD:1600935 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prader-Willi syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28631899 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISS OMIM:176270 MouseDO NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Magel2 MAGE family member L2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:176270
ClinVar Annotator: match by term: Prader-Willi syndrome		 CTD
MouseDO
ClinVar		 PMID:24076603 PMID:25741868 PMID:27195816 PMID:28281571 PMID:28492532 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prader-Willi syndrome		 CTD
ClinVar		 PMID:28631899 NCBI chr 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283 		JBrowse link
G Ndn necdin, MAGE family member ISO
ISS		 OMIM:176270
ClinVar Annotator: match by term: Prader-Willi syndrome		 MouseDO
ClinVar
RGD		 PMID:25741868 PMID:28631899 PMID:9630521 RGD:1601480 NCBI chr 1:115,849,168...115,850,767
Ensembl chr 1:115,849,105...115,850,767 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N susceptibility ISO
ISS		 DNA:deletion
OMIM:176270
ClinVar Annotator: match by term: Prader-Willi syndrome		 MouseDO
ClinVar
RGD		 PMID:28631899 PMID:8723064 RGD:1601354 NCBI chr 1:111,101,327...111,123,400
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:111,101,327...111,123,634
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250 		JBrowse link
primary hypomagnesemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary hypomagnesemia		 CTD
ClinVar		 PMID:668721 PMID:10390358 PMID:10878661 PMID:11518780 PMID:15856319 More... NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency		 CTD
OMIM
ClinVar		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
proprotein convertase 1/3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency ClinVar PMID:9207799 PMID:14617756 PMID:17595246 PMID:22210313 PMID:23383060 More... NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency		 CTD
OMIM
ClinVar		 PMID:9207799 PMID:14617756 PMID:17595246 PMID:22210313 PMID:23383060 More... NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434 		JBrowse link
Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865262 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865262 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Insr insulin receptor treatment IEP RGD PMID:19880292 RGD:4107735 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b IEP protein:decreased expression:liver RGD PMID:5954822 RGD:2298983 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16214328 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
protein-energy malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin IEP protein:decreased expression:serum: RGD PMID:9235366 RGD:11036082 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 IEP mRNA:increased expression:liver RGD PMID:11952159 RGD:631316 NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649 		JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 IEP mRNA:increased expression:skeletal muscle RGD PMID:18725894 RGD:2301376 NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IEP mRNA:decreased expression:ovary (rat) RGD PMID:20018485 RGD:4890381 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Lipc lipase C, hepatic type IDA protein:reduced expression:plasma (rat) RGD PMID:7666262 RGD:2308792 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase IDA RGD PMID:11575573 RGD:1598897 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2		 CTD
ClinVar
OMIM
RGD		 PMID:3298795 PMID:9536098 PMID:11062458 PMID:11929868 PMID:12763860 More... RGD:1598986 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
renal hypomagnesemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO
ISS		 ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL
OMIM:248250		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 More... NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement		 OMIM
CTD
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal hypomagnesemia 6		 OMIM
CTD
ClinVar		 PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rragd Ras-related GTP binding D ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | ClinVar Annotator: match by term: RRAGD-related condition OMIM
ClinVar		 PMID:34607910 NCBI chr 5:47,373,902...47,409,369
Ensembl chr 5:47,373,463...47,409,356 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
Retinal Dystrophy and Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 More... NCBI chr 1:163,030,621...163,086,583
Ensembl chr 1:163,032,158...163,086,519 		JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 More... NCBI chr 1:163,008,198...163,030,958
Ensembl chr 1:162,951,931...163,026,812 		JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO
ISS		 vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Vdr vitamin D receptor ISO
ISS		 VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209 RGD:1624354 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332 		JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741909 PMID:27005418 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256 		JBrowse link
Starvation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl1 acyl-CoA synthetase long-chain family member 1 IEP mRNA:increased expression:liver RGD PMID:15811777 RGD:1625742 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Adm adrenomedullin IEP mRNA, protein:increased expression:stomach RGD PMID:17335899 RGD:1625307 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:increased expression:duodenum, jejunum (rat) RGD PMID:6140913 RGD:2312554 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503 		JBrowse link
G Hp haptoglobin IEP RGD PMID:19053136 RGD:11041864 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690 		JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP RGD PMID:17335899 RGD:1625307 NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829 		JBrowse link
G Si sucrase-isomaltase IEP RGD PMID:10864000 RGD:1625548 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7306070 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule treatment IMP
IDA		 RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment IEP
IDA		 protein:increased expression:cerebrospinal fluid RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
thiamine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO
ISS		 ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
OMIM:249270
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172 		JBrowse link
transcobalamin II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcn2 transcobalamin 2 ISO ClinVar Annotator: match by term: Transcobalamin II deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 More... NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
Vitamin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16120438 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment ISO
IEP		 RGD PMID:25451926 PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204 		JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase IEP RGD PMID:12544342 RGD:1599455 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
vitamin B12 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Vitamin B12 deficiency ClinVar PMID:25741868 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Calr calreticulin IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cbs cystathionine beta synthase IEP protein:decreased expression:liver (rat) RGD PMID:2732804 RGD:40903037 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:16716410 RGD:2313422 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cfl1 cofilin 1 IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Fut2 fucosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO RGD PMID:11115425 RGD:401827848 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
Vitamin D Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein IDA RGD PMID:3105848 RGD:6483561 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO DNA:SNP:CDS: rs12794714|rs10766197 (human)
DNA:SNP:CDS:rs12794714 (human)		 RGD PMID:34906413 PMID:31814925 RGD:401900724, RGD:401901168 NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO DNA:SNP:CDS:rs12785878 (human) RGD PMID:31814925 RGD:401901168 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:SNP:CDS:rs2282679) (human) RGD PMID:31814925 RGD:401901168 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 IEP RGD PMID:28365874 RGD:124713570 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Retn resistin IEP mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)		 CTD
RGD		 PMID:9525346 PMID:30683615 RGD:14401752 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment ISO
IMP		 ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:24033266 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
vitamin D-dependent rickets type 2A 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: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor treatment ISO
IMP		 ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka treatment IMP compared to untreated vdr KO RGD PMID:32231239 RGD:32716373
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar		 PMID:29461981 NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008 		JBrowse link
Vitamin E Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 treatment IEP associated with nitrate tolerance RGD PMID:16520233 RGD:401900296 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
vitamin K deficiency bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:16869104 RGD:6483568 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:8229066 RGD:405100718 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilson-Turner syndrome		 OMIM
CTD
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO
ISS		 ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
OMIM:307800
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:		 OMIM
ClinVar
MouseDO
RGD		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
Zinc Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:liver (rat) RGD PMID:20404036 RGD:12904966 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 IEP mRNA:increased expression:lung, kidney (rat) RGD PMID:20859692 RGD:11553849 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      nutrition disease 1089
        Child Nutrition Disorders 0
        Infant Nutrition Disorders + 2
        Malnutrition + 344
        Wasting Syndrome + 4
        overnutrition + 797
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        acquired metabolic disease 2535
          nutrition disease 1089
            Child Nutrition Disorders 0
            Infant Nutrition Disorders + 2
            Malnutrition + 344
            Wasting Syndrome + 4
            overnutrition + 797
paths to the root