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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.

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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 chr16:64,515,013...64,524,270 JBrowse link
G TFRC transferrin receptor ISO protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584 		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 chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO DNA:SNP:CDS: rs12794714 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr25:19,720,096...19,772,806
Ensembl chr25:19,719,848...19,750,200 		JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY2C guanylate cyclase 2C ISO MouseDO NCBI chr11:14,534,787...14,668,746
Ensembl chr11:14,534,883...14,613,255 		JBrowse link
G LEP leptin ISO MouseDO NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LOC103231119 cardiotrophin-1 ISO MouseDO NCBI chr 5:27,579,175...27,586,779
Ensembl chr 5:27,579,987...27,585,759 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO MouseDO NCBI chr26:8,074,706...8,082,437
Ensembl chr26:8,074,310...8,082,123 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680
G PPARG peroxisome proliferator activated receptor gamma ISO MouseDO NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PRKCI protein kinase C iota ISO MouseDO NCBI chr15:19,103,682...19,180,689 JBrowse link
G SIRT3 sirtuin 3 ISO MouseDO NCBI chr 1:25,740...49,471
Ensembl chr 1:26,927...48,944 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO MouseDO NCBI chr27:40,030,051...40,224,069 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 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr11:105,522,175...105,590,291
Ensembl chr11:105,522,157...105,590,958 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:4,358,314...4,361,863 JBrowse link
G LEP leptin ISO OMIM:605552 MouseDO NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr 8:18,009,049...18,038,315
Ensembl chr 8:18,009,093...18,038,598 		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 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TP53INP1 tumor protein p53 inducible nuclear protein 1 ISO OMIM:605552 MouseDO NCBI chr 8:89,893,531...89,918,054
Ensembl chr 8:89,893,419...89,908,228 		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 chr20:105,187,943...105,257,767
Ensembl chr20:105,239,747...105,244,558 		JBrowse link
G LOC103234688 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 More... NCBI chr 6:34,361,467...34,370,292
Ensembl chr 6:34,357,449...34,368,067 		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 ClinVar Annotator: match by term: Acrodermatitis enteropathica zinc deficiency type | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition OMIM
ClinVar		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... NCBI chr 8:138,622,100...138,626,749
Ensembl chr 8:138,622,224...138,626,376 		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 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 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 OMIM
ClinVar		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chr11:4,398,318...4,408,415
Ensembl chr11:4,398,675...4,407,209 		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:20,507,619...20,733,367
Ensembl chr  X:20,522,498...20,734,599 		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 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chr 7:36,032,320...36,046,621
Ensembl chr 7:36,039,432...36,046,278 		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 chr13:41,670,416...41,755,549 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:28492532 NCBI chr12:38,055,100...38,082,969
Ensembl chr12:38,073,329...38,081,927 		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 chr15:60,433,035...60,470,600
Ensembl chr15:60,459,913...60,470,615 		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 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
ClinVar		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 More... NCBI chr  X:109,531,700...109,595,136
Ensembl chr  X:109,531,726...109,593,854 		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 ISO DNA:hypermethylation:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 2:87,991,868...88,006,399
Ensembl chr 2:87,991,936...88,005,459 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr18:26,714,610...26,785,028 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 More... NCBI chr23:35,693,427...35,782,746
Ensembl chr23:35,699,094...35,782,683 		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 chr10:115,789,978...115,946,978
Ensembl chr10:115,789,605...115,945,753 		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 8:95,369,941...95,412,737
Ensembl chr 8:95,369,901...95,412,688 		JBrowse link
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,878,970...97,930,552
Ensembl chr 8:97,879,019...97,926,263 		JBrowse link
G AZIN1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,679,775...97,717,486
Ensembl chr 8:97,679,468...97,696,928 		JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,001,547...98,082,381
Ensembl chr 8:98,001,432...98,082,132 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,227,661...98,239,984
Ensembl chr 8:98,227,705...98,240,753 		JBrowse link
G DCAF13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,271,304...98,297,950 JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,174,778...99,193,539
Ensembl chr 8:99,185,423...99,193,058 		JBrowse link
G DPYS dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,216,623...99,303,969
Ensembl chr 8:99,216,354...99,303,282 		JBrowse link
G FBXO43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:94,983,189...94,996,480
Ensembl chr 8:94,983,640...94,994,672 		JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,154,173...98,187,864
Ensembl chr 8:98,154,196...98,188,069 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,340,459...96,526,366
Ensembl chr 8:96,342,189...96,526,363 		JBrowse link
G KCNS2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:93,343,847...93,349,828
Ensembl chr 8:93,344,822...93,346,255 		JBrowse link
G KLF10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,496,695...97,503,818
Ensembl chr 8:97,496,678...97,503,620 		JBrowse link
G LOC103237200 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:94,737,674...94,753,239 JBrowse link
G LRP12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,325,852...99,423,413
Ensembl chr 8:99,324,111...99,422,767 		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 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G NCALD neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,530,414...96,735,422
Ensembl chr 8:96,530,302...96,644,281 		JBrowse link
G NIPAL2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:93,108,371...93,211,595
Ensembl chr 8:93,109,205...93,210,445 		JBrowse link
G ODF1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532
G OSR2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:93,831,218...93,839,098
Ensembl chr 8:93,831,480...93,839,263 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:95,560,551...95,578,627
Ensembl chr 8:95,561,930...95,578,633 		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 8:95,001,525...95,004,749
Ensembl chr 8:95,001,587...95,004,346 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:93,031,600...93,074,700
Ensembl chr 8:93,043,277...93,074,818 		JBrowse link
G RGS22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:94,806,493...94,950,188
Ensembl chr 8:94,805,855...94,937,451 		JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,354,271...99,097,457
Ensembl chr 8:98,354,131...99,097,577 		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 8:95,107,679...95,161,592
Ensembl chr 8:95,105,016...95,139,012 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,055,111...97,091,980 JBrowse link
G SLC25A32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,256,793...98,271,347
Ensembl chr 8:98,254,852...98,271,514 		JBrowse link
G SNX31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:95,427,818...95,515,132
Ensembl chr 8:95,428,800...95,502,606 		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 8:95,008,812...95,093,315
Ensembl chr 8:95,013,250...95,092,451 		JBrowse link
G STK3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:93,374,528...93,698,143
Ensembl chr 8:93,374,517...93,697,758 		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 8:97,104,325...97,257,317
Ensembl chr 8:97,103,220...97,257,440 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 8:93,899,666...94,737,123
Ensembl chr 8:93,901,284...94,735,262 		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 8:95,786,197...95,821,270
Ensembl chr 8:95,788,305...95,819,197 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,138,867...100,620,355 JBrowse link
G ZNF706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,062,498...96,072,104
Ensembl chr 8:96,064,379...96,067,511 		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 OMIM
ClinVar		 PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... NCBI chr 1:13,833,762...13,849,727
Ensembl chr 1:13,834,330...13,849,516 		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 OMIM
ClinVar		 PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 More... NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LEPR leptin receptor ISO ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency ClinVar PMID:25741868 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		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 ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency OMIM
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr20:62,672,820...62,718,608
Ensembl chr20:62,690,906...62,718,980 		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 disorder ClinVar PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 More... NCBI chr13:3,575,414...3,615,533
Ensembl chr13:3,575,497...3,616,019 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 More... NCBI chr13:3,646,331...3,783,930
Ensembl chr13:3,651,161...3,783,160 		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:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:20,507,619...20,733,367
Ensembl chr  X:20,522,498...20,734,599 		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 chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G TTPA alpha tocopherol transfer protein ISO 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
ClinVar		 PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 8:58,952,685...58,979,083
Ensembl chr 8:58,950,626...58,978,258 		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 ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:40,834,158...40,920,404
Ensembl chr  X:40,834,159...40,920,444 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 6:30,736,869...30,763,054
Ensembl chr 6:30,736,966...30,762,929 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr25:49,786,126...49,804,917 JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205 		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 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		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 chr16:22,137,990...22,163,431
Ensembl chr16:22,138,588...22,162,893 		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 OMIM
ClinVar		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr16:22,164,661...22,173,376
Ensembl chr16:22,166,318...22,173,240 		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 1:51,327,555...51,330,810 JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO DNA:deletions, snps:multiple (human)
OMIM:241530		 RGD
MouseDO		 PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		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 OMIM
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr12:952,486...958,602
Ensembl chr12:952,278...957,308 		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 chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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 chr 2:86,098,818...86,176,101
Ensembl chr 2:86,099,414...86,179,949 		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 chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066 		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 chr 2:87,622,839...87,735,552
Ensembl chr 2:87,654,097...87,730,785 		JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:88,019,122...88,031,998
Ensembl chr 2:88,019,522...88,031,801 		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 chr 2:85,769,419...85,837,269
Ensembl chr 2:85,766,996...85,837,182 		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 chr 2:88,065,948...88,074,820
Ensembl chr 2:88,063,604...88,075,289 		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 chr 2:89,129,674...89,186,490 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 chr 2:89,608,525...89,649,823 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 chr 2:89,724,355...89,758,389
Ensembl chr 2:89,737,003...89,758,425 		JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:87,551,341...87,555,145 JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:89,916,904...89,934,889 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 chr 2:87,991,868...88,006,399
Ensembl chr 2:87,991,936...88,005,459 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:87,884,102...87,902,413
Ensembl chr 2:87,884,118...87,904,379 		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 chr 2:87,262,882...87,434,217 JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:87,974,651...87,986,867
Ensembl chr 2:87,973,786...87,986,639 		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 chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025 		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 chr 2:88,397,074...88,398,186 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 chr 2:88,382,006...88,383,652 JBrowse link
G KRTAP12-3 keratin associated protein 12-3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:88,373,725...88,374,783
Ensembl chr 2:88,374,230...88,374,517 		JBrowse link
G LOC103219520 splicing factor U2AF 35 kDa subunit-like protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:86,949,910...86,964,655
Ensembl chr 2:86,950,056...86,964,579 		JBrowse link
G LOC103219558 serine/threonine-protein kinase SIK1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:87,204,386...87,217,044
Ensembl chr 2:87,204,357...87,216,180 		JBrowse link
G LOC103219922 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:88,292,219...88,295,532 JBrowse link
G LOC103219967 thrombospondin-type laminin G domain and EAR repeat-containing protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701 		JBrowse link
G LOC103220313 formimidoyltransferase-cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:89,761,600...89,778,572
Ensembl chr 2:89,761,248...89,782,238 		JBrowse link
G LOC103220344 spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:89,781,950...89,805,927
Ensembl chr 2:89,782,182...89,803,593 		JBrowse link
G LOC103221104 cystathionine beta-synthase ISO ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: CBS-related condition | 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 due to CBS deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
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
ClinVar		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... NCBI chr 2:86,905,104...86,933,780 JBrowse link
G LOC119619328 keratin-associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G LOC119619413 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
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 chr 2:88,176,282...88,179,587
Ensembl chr 2:88,177,399...88,178,172 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:89,809,065...89,846,295
Ensembl chr 2:89,811,698...89,846,242 		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 chr 2:89,852,450...89,900,002
Ensembl chr 2:89,852,447...89,890,054 		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 chr20:87,279,028...87,289,444
Ensembl chr20:87,279,254...87,289,490 		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 chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria ClinVar PMID:10484769 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840 		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 chr 2:86,750,630...86,759,744
Ensembl chr 2:86,750,648...86,759,826 		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 chr 2:89,304,497...89,585,037 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328 		JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157 		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 chr 2:88,035,409...88,063,376
Ensembl chr 2:88,035,347...88,063,442 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr17:20,411,746...20,873,601 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 chr 2:86,857,155...86,882,365
Ensembl chr 2:86,856,632...86,881,550 		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 chr 2:88,949,293...88,973,007 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 chr 2:85,686,292...85,761,365
Ensembl chr 2:85,685,932...85,742,611 		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 chr 2:88,559,286...88,586,016
Ensembl chr 2:88,559,285...88,585,091 		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 chr 2:87,858,003...87,881,072
Ensembl chr 2:87,858,029...87,881,102 		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 chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927 		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 chr 2:87,560,229...87,579,019 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 chr 2:87,434,214...87,471,553
Ensembl chr 2:87,434,304...87,471,627 		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 chr 2:86,348,365...86,371,908
Ensembl chr 2:86,348,056...86,371,858 		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 chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281 		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 chr 2:86,375,198...86,457,028
Ensembl chr 2:86,390,936...86,457,096 		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 chr 2:88,652,219...88,703,220
Ensembl chr 2:88,652,222...88,690,577 		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 chr 2:88,516,906...88,529,098 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 chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795 		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 chr 2:86,223,113...86,228,964 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 chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		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 chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418 		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 chr 2:88,082,391...88,170,340
Ensembl chr 2:88,087,448...88,170,344 		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 chr 2:86,279,762...86,330,281
Ensembl chr 2:86,280,198...86,332,756 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:88,481,221...88,512,998
Ensembl chr 2:88,483,204...88,498,067 		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 chr 2:85,894,102...86,023,577
Ensembl chr 2:85,959,746...86,019,950 		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 chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547 		JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 2:89,905,119...89,910,307
Ensembl chr 2:89,905,127...89,909,324 		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 chr 2:85,871,708...85,894,964
Ensembl chr 2:85,875,805...85,879,005 		JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103221104 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 chr 2:86,905,104...86,933,780 JBrowse link
Homocystinuria-megaloblastic anemia cblD type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 ClinVar
OMIM		 PMID:15292234 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr10:34,999,856...35,019,575
Ensembl chr10:34,999,067...35,019,389 		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 ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE ClinVar
OMIM		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840 		JBrowse link
homocystinuria-megaloblastic anemia cblG type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840 		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 OMIM
ClinVar		 PMID:5453458 PMID:17951468 PMID:25741868 NCBI chr 5:66,681,756...66,730,832
Ensembl chr 5:66,681,513...66,733,604 		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 chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr 2:38,579,254...38,601,218
Ensembl chr 2:38,579,024...38,601,208 		JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr20:17,319,440...17,351,054
Ensembl chr20:17,315,117...17,351,054 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692 		JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr20:62,672,820...62,718,608
Ensembl chr20:62,690,906...62,718,980 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 7:22,327,041...22,329,405
Ensembl chr 7:22,569,355...22,569,900
Ensembl chr 7:22,569,355...22,569,900 		JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr10:105,312,348...105,320,869 JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A ISO protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr 2:81,318,509...81,467,227
Ensembl chr 2:81,425,902...81,467,677 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 7:93,980,983...94,043,863
Ensembl chr 7:93,985,797...94,042,296 		JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 3:91,125,097...91,154,000
Ensembl chr 3:91,124,766...91,157,376 		JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298 		JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:129,090,140...129,315,343
Ensembl chr  X:129,088,611...129,312,909 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr17:29,196,142...29,199,728
Ensembl chr17:29,196,321...29,198,947 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr23:55,944,128...56,265,748
Ensembl chr23:56,101,294...56,265,849 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G LOC103221104 cystathionine beta-synthase susceptibility ISO associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
ClinVar Annotator: match by term: Hyperhomocysteinemia		 RGD
ClinVar		 PMID:7762555 PMID:10704624 PMID:12686134 PMID:16205833 PMID:16479318 More... RGD:40903036 NCBI chr 2:86,905,104...86,933,780 JBrowse link
G LOC103231892 metalloproteinase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:44,759,412...44,763,243
Ensembl chr  X:44,760,531...44,765,571 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutations, nonsense mutations:CDS:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)		 CTD
RGD		 PMID:10459572 PMID:10679944 PMID:12471611 PMID:15226090 PMID:16317120 More... RGD:10449400 RGD:1601421 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 5:27,892,332...27,894,386
Ensembl chr 5:27,889,230...27,893,697 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr16:22,164,661...22,173,376
Ensembl chr16:22,166,318...22,173,240 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666
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: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 More... NCBI chr  X:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chr 7:36,032,320...36,046,621
Ensembl chr 7:36,039,432...36,046,278 		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 chr13:41,670,416...41,755,549 JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... NCBI chr11:4,398,318...4,408,415
Ensembl chr11:4,398,675...4,407,209 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637 		JBrowse link
G LOC103246914 FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633 		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:20,507,619...20,733,367
Ensembl chr  X:20,522,498...20,734,599 		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 chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr 7:36,032,320...36,046,621
Ensembl chr 7:36,039,432...36,046,278 		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 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr13:41,670,416...41,755,549 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 chr24:80,884,149...80,895,977
Ensembl chr24:80,883,911...80,893,066 		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 chr 9:18,075,436...18,470,985
Ensembl chr 9:18,332,165...18,469,617 		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 chr24:80,894,777...81,024,998 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 chr 9:16,774,644...17,079,776
Ensembl chr 9:16,774,757...17,079,681 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 9:17,537,945...17,565,831
Ensembl chr 9:17,536,611...17,565,383 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 9:17,887,821...17,970,593
Ensembl chr 9:17,888,748...17,970,580 		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 chr 9:17,269,548...17,400,860 JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 9:17,590,252...17,662,278
Ensembl chr 9:17,590,268...17,663,986 		JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr24:80,735,234...80,872,104
Ensembl chr24:80,789,699...80,866,480 		JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 9:17,098,086...17,166,267
Ensembl chr 9:17,100,491...17,155,826 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829 		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 chr24:80,884,149...80,895,977
Ensembl chr24:80,883,911...80,893,066 		JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO protein:increased excretion:urine:
DNA:polymorphisms, missense mutations, splice sites:exon,intron:		 RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chr 1:13,833,762...13,849,727
Ensembl chr 1:13,834,330...13,849,516 		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 chr24:80,894,777...81,024,998 JBrowse link
G CUBN cubilin ISO 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 OMIM
ClinVar		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr 9:16,774,644...17,079,776
Ensembl chr 9:16,774,757...17,079,681 		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 ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type OMIM
ClinVar		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr24:80,884,149...80,895,977
Ensembl chr24:80,883,911...80,893,066 		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 chr24:80,894,777...81,024,998 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 ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 OMIM
ClinVar		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr12:85,773,663...85,954,807
Ensembl chr12:85,773,344...85,903,293 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr26:32,644,637...32,772,753
Ensembl chr26:32,669,187...32,771,378 		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 ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 2:66,037,224...66,320,860
Ensembl chr 2:66,037,261...66,321,306 		JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)		 RGD PMID:15637178 PMID:23776592 RGD:11252172 RGD:2315589 NCBI chr  X:66,843,519...66,985,655
Ensembl chr  X:66,843,558...66,985,709 		JBrowse link
G C1QA complement C1q A chain ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr20:110,024,847...110,027,868 JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
G CST3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 2:52,834,497...52,838,785
Ensembl chr 2:52,832,181...52,838,865 		JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760 RGD:11352819 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606 RGD:11041634 NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		JBrowse link
G IL6 interleukin 6 ISO associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)		 RGD PMID:10095770 PMID:18549630 RGD:12904038 RGD:12910699 NCBI chr26:4,842,328...4,905,941
Ensembl chr26:4,842,122...4,905,964 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972 		JBrowse link
G PON1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586 RGD:11553834 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:nasal cavity olfactory epithelium 		CTD
RGD		 PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr11:47,190,138...47,238,543
Ensembl chr11:47,197,168...47,235,130 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G TF transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia		 RGD
ClinVar		 PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 RGD:1601513 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
protein:increased expression:serum:		 CTD
RGD		 PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 More... RGD:11062096 RGD:11062104 RGD:11062105 NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr19:19,771,303...19,811,751
Ensembl chr19:19,771,952...19,806,420 		JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563
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 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		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 member 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 9:87,981,300...88,025,007 JBrowse link
G GPX1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr22:10,754,976...10,756,617 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 OMIM
ClinVar		 PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 More... NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LEPROT leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:67,643,371...67,655,995
Ensembl chr20:67,639,280...67,655,900 		JBrowse link
Malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103221104 cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 2:86,905,104...86,933,780 JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741 		JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G NEFM neurofilament medium chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr 8:23,039,187...23,044,668
Ensembl chr 8:23,039,282...23,044,667 		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 OMIM
ClinVar		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:22,523,330...22,549,827 JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr20:120,004,627...120,030,469 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 ClinVar
OMIM		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		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 chr 5:59,604,893...59,611,140
Ensembl chr 5:59,605,149...59,614,206 		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:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		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:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043 		JBrowse link
G LOC103232819 testis-specific protein TEX28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,583,639...128,607,682
Ensembl chr  X:128,583,880...128,601,402 		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:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		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:128,353,262...128,359,222
Ensembl chr  X:128,352,634...128,359,085 		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:128,359,313...128,369,070
Ensembl chr  X:128,359,396...128,368,581 		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 chr 5:59,595,411...59,598,401
Ensembl chr 5:59,596,106...59,597,047 		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:128,607,766...128,642,074
Ensembl chr  X:128,607,901...128,642,063 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,396,566...128,406,611
Ensembl chr  X:128,405,488...128,406,273 		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 chr24:51,497,440...51,516,919
Ensembl chr24:51,495,790...51,516,905 		JBrowse link
G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr14:103,746,056...103,943,630
Ensembl chr14:103,871,408...103,943,501 		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:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 More... NCBI chr17:5,169,347...5,295,565
Ensembl chr17:5,169,478...5,295,127 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO 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
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr20:87,279,028...87,289,444
Ensembl chr20:87,279,254...87,289,490 		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 chr10:34,999,856...35,019,575
Ensembl chr10:34,999,067...35,019,389 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 More... NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978 		JBrowse link
G THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr 5:59,595,411...59,598,401
Ensembl chr 5:59,596,106...59,597,047 		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 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
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr10:34,999,856...35,019,575
Ensembl chr10:34,999,067...35,019,389 		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 chr16:46,152,547...46,162,328
Ensembl chr16:46,152,869...46,161,379 		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 chr17:4,769,466...5,096,036 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 chr17:4,570,766...4,761,678
Ensembl chr17:4,674,162...4,761,924 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr17:5,169,347...5,295,565
Ensembl chr17:5,169,478...5,295,127 		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 ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar
OMIM		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840 		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 ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr24:51,497,440...51,516,919
Ensembl chr24:51,495,790...51,516,905 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblL 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: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE ClinVar PMID:25741868 PMID:28449119 NCBI chr 5:59,604,893...59,611,140
Ensembl chr 5:59,605,149...59,614,206 		JBrowse link
G THAP11 THAP domain containing 11 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE OMIM
ClinVar		 PMID:25741868 PMID:28449119 NCBI chr 5:59,595,411...59,598,401
Ensembl chr 5:59,596,106...59,597,047 		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 2:39,181,446...39,230,164
Ensembl chr 2:39,181,468...39,229,444 		JBrowse link
G ADCY3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr14:82,752,786...82,858,727
Ensembl chr14:82,753,177...82,859,415 		JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G APLN apelin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma		 RGD PMID:15970339 PMID:19756893 RGD:1600932 RGD:2313938 NCBI chr  X:104,885,639...104,896,371
Ensembl chr  X:104,888,996...104,895,014 		JBrowse link
G AQP7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr12:46,866,519...46,886,525 JBrowse link
G BBS4 Bardet-Biedl syndrome 4 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr26:10,742,982...10,799,615
Ensembl chr26:10,743,850...10,775,908 		JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G CCK cholecystokinin ISO protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) RGD PMID:17443025 RGD:1625798 NCBI chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956 		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 chr 7:111,747,265...111,867,548
Ensembl chr 7:111,747,172...111,868,754 		JBrowse link
G CTNNBL1 catenin beta like 1 no_association
susceptibility		 ISO DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) RGD PMID:19228371 PMID:19245693 RGD:9850251 RGD:9850253 NCBI chr 2:25,877,750...26,055,283
Ensembl chr 2:25,877,700...26,055,209 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance RGD PMID:12883487 RGD:1626305 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716 		JBrowse link
G KSR2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr11:112,784,275...113,307,935
Ensembl chr11:112,784,728...113,084,697 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LPIN1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr14:95,777,976...95,926,420
Ensembl chr14:95,780,478...95,926,419 		JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635 RGD:1600750 RGD:1600755 NCBI chr18:19,380,054...19,386,412
Ensembl chr18:19,380,849...19,381,847 		JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr19:23,240,509...23,245,553
Ensembl chr19:23,241,487...23,243,950 		JBrowse link
G NPPB natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 ISO DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only RGD PMID:15855352 RGD:1642381 NCBI chr 7:101,696,081...101,773,782
Ensembl chr 7:101,770,551...101,771,696 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 onset ISO protein:substitution:Y722C;severe early-onset RGD PMID:16702999 RGD:1626135 NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364 		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 chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:25741868 PMID:28492532 NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807 		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 ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar		 PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr15:90,514,147...90,519,580
Ensembl chr15:90,514,438...90,521,380 		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 OMIM
ClinVar		 PMID:9536098 PMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 More... NCBI chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712 		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 chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		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 OMIM
ClinVar		 PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 NCBI chr20:106,722,539...106,731,494
Ensembl chr20:106,724,256...106,731,955 		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 1:7,670,137...7,686,389
Ensembl chr 1:7,667,873...7,686,428 		JBrowse link
G SOD1 superoxide dismutase 1 ISO Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr 2:60,461,219...60,472,999 JBrowse link
obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AACS acetoacetyl-CoA synthetase ISO mRNA:altered expression:thalamus, hypothalamus (rat) RGD PMID:19219059 RGD:2326191 NCBI chr11:120,422,138...120,502,200
Ensembl chr11:120,422,232...120,502,271 		JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 disease_progression
susceptibility		 ISO mRNA:increased expression:liver (rat)
DNA:SNP:exon:p.R230C (rs9282541) (human)		 RGD PMID:17287470 PMID:25612518 RGD:15045599 RGD:1601092 NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr10:54,458,283...54,575,943
Ensembl chr10:54,459,377...54,575,059 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 disease_progression ISO mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr14:63,414,241...63,439,193
Ensembl chr14:63,413,691...63,438,917 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:15331430 RGD:1601095 NCBI chr14:63,389,817...63,420,048
Ensembl chr14:63,390,433...63,413,906 		JBrowse link
G ACACB acetyl-CoA carboxylase beta treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:left ventricle myocardium (rat)		 CTD
RGD		 PMID:20882379 PMID:33310031 RGD:329955450 NCBI chr11:104,325,250...104,488,567
Ensembl chr11:104,349,573...104,488,003 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr20:57,428,863...57,468,422
Ensembl chr20:57,428,472...57,468,359 		JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		JBrowse link
G ACLY ATP citrate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr16:64,343,175...64,392,011 JBrowse link
G ACOX1 acyl-CoA oxidase 1 treatment ISO RGD PMID:30298849 RGD:401960083 NCBI chr16:45,706,009...45,745,564
Ensembl chr16:45,706,360...45,740,247 		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 chr14:107,449,327...107,465,478 JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 6:10,488,572...10,493,508
Ensembl chr 6:10,488,460...10,491,519 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:subcutaneous adipose tissue
mRNA, protein:increased expression:adipose tissue, liver		 CTD
RGD		 PMID:1543733 PMID:16788709 PMID:20882379 RGD:1625735 RGD:1625737 NCBI chr 7:130,712,633...130,783,360
Ensembl chr 7:130,712,308...130,763,756 		JBrowse link
G ADA adenosine deaminase ISO protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chr 2:19,167,209...19,200,233 JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066 		JBrowse link
G ADCY3 adenylate cyclase 3 treatment ISO ClinVar Annotator: match by term: ADCY3-related condition ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30568259 RGD:407550184 NCBI chr14:82,752,786...82,858,727
Ensembl chr14:82,753,177...82,859,415 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO associated with myocardial infarction; protein:decreased expression:plasma
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism|therapeutic		 RGD
CTD		 PMID:10092513 PMID:14617771 PMID:16092047 PMID:18303100 PMID:18651432 More... RGD:14975146 RGD:1599149 RGD:2313239 RGD:5686809 RGD:5686813 RGD:8695927 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:increased expression:liver
mRNA:decreased expression:lymphocyte		 RGD PMID:16483885 PMID:17391161 RGD:1625761 RGD:1625763 NCBI chr25:26,445,993...26,462,346
Ensembl chr25:26,453,242...26,462,549 		JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment
severity		 ISO mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver
associated with non-alcoholic fatty liver disease		 RGD PMID:16483885 PMID:23838384 PMID:30131158 PMID:30225267 RGD:1625763 RGD:21406435 RGD:25824942 RGD:8695926 NCBI chr11:1,802,694...1,836,703
Ensembl chr11:1,738,026...1,837,060 		JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686 		JBrowse link
G ADORA1 adenosine A1 receptor ISO protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women RGD PMID:16507638 RGD:1625369 NCBI chr25:26,180,898...26,221,424
Ensembl chr25:26,182,446...26,220,776 		JBrowse link
G ADRA2B adrenoceptor alpha 2B ISO RGD PMID:10404816 RGD:1300265 NCBI chr14:558,876...562,959
Ensembl chr14:561,057...562,400 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058 		JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility
no_association		 ISO DNA:polymorphisms: :p.R16G, p.Q27E
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12161655 PMID:15687340 PMID:17027833 PMID:17221209 RGD:1601119 RGD:1601122 RGD:737773 NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401 		JBrowse link
G ADRB3 adrenoceptor beta 3 no_association
susceptibility		 ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
ClinVar Annotator: match by term: Obesity		 RGD
OMIM
ClinVar		 PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 More... RGD:5684409 NCBI chr 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060 		JBrowse link
G AFF4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr23:35,693,427...35,782,746
Ensembl chr23:35,699,094...35,782,683 		JBrowse link
G AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr11:53,638,722...53,655,826
Ensembl chr11:53,640,079...53,651,913 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:decreased expression:plasma (human) RGD PMID:22761461 PMID:23046363 RGD:7243247 RGD:7243250 NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G AGRP agouti related neuropeptide ISO ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset OMIM
ClinVar		 PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 NCBI chr 5:59,972,728...59,974,728
Ensembl chr 5:59,973,922...59,974,660 		JBrowse link
G AGT angiotensinogen susceptibility ISO DNA:polymorphism: :p.T174M
DNA:polymorphism: :p.M235T		 RGD PMID:16514903 PMID:16713443 RGD:1601142 RGD:1601143 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:15793237 RGD:2313554
G AHI1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr13:37,918,902...38,138,838
Ensembl chr13:37,924,440...38,139,366 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 PMID:30813227 PMID:31306034 NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478 		JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:serum RGD PMID:17011519 PMID:19228823 RGD:1625793 RGD:2313809 NCBI chr15:2,809,234...2,818,382
Ensembl chr15:2,809,028...2,817,514 		JBrowse link
G AK1 adenylate kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:15855311 RGD:1601154 NCBI chr12:10,251,793...10,261,635
Ensembl chr12:10,256,054...10,261,465 		JBrowse link
G AKAP1 A-kinase anchoring protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr16:36,275,287...36,313,612
Ensembl chr16:36,275,209...36,306,012 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO protein:decreased activity:rectus abdominis (human)
protein:decreased expression:plantaris (rat)		 RGD PMID:12663464 PMID:17923673 PMID:18508911 RGD:2313320 RGD:2313406 RGD:2313409 NCBI chr 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781 		JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr22:54,848,868...54,933,415
Ensembl chr22:54,848,901...54,934,629 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr24:51,273,257...51,296,661
Ensembl chr24:51,269,272...51,288,826 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO OMIM:601665 MouseDO NCBI chr14:33,571,894...33,795,404
Ensembl chr14:33,573,296...33,789,549 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO mRNA:increased expression:adipose tissue, fat cell RGD PMID:18780776 PMID:20978234 RGD:5509594 RGD:5509628 NCBI chr16:6,355,795...6,370,051
Ensembl chr16:6,356,058...6,369,738 		JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO mRNA:increased expression:peripheral blood mononuclear cell (human)
mRNA:increased expression:adipose tissue (mouse)		 RGD PMID:17379835 PMID:19596146 RGD:2313884 RGD:2313913 NCBI chr 3:9,618,030...9,642,990
Ensembl chr 3:9,617,949...9,643,184 		JBrowse link
G AMH anti-Mullerian hormone ISO protein:decreased expression:serum RGD PMID:17109858 RGD:1601182 NCBI chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958 		JBrowse link
G ANG angiogenin ISO protein:increased expression:adipose tissue RGD PMID:22748184 RGD:6892722 NCBI chr29:21,215,985...21,226,927 JBrowse link
G ANGPTL4 angiopoietin like 4 resistance ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:17210919 PMID:28842503 RGD:1625353 NCBI chr 6:7,719,359...7,728,799
Ensembl chr 6:7,719,400...7,729,302 		JBrowse link
G ANGPTL6 angiopoietin like 6 ISO OMIM:601665 MouseDO NCBI chr 6:9,162,219...9,175,163 JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 ISO OMIM:601665 RGD
MouseDO		 PMID:18162531 RGD:9681744 NCBI chr 9:26,601,072...26,693,238
Ensembl chr 9:26,599,966...26,693,217 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO RGD PMID:17977742 RGD:2313916 NCBI chr16:63,435,494...63,442,790
Ensembl chr16:63,437,067...63,442,256 		JBrowse link
G APCDD1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr18:69,283,352...69,317,504
Ensembl chr18:69,283,650...69,318,393 		JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:104,885,639...104,896,371
Ensembl chr  X:104,888,996...104,895,014 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression RGD PMID:9933608 PMID:12725089 RGD:1601185 RGD:2313959 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G APOA2 apolipoprotein A2 ISO protein:increased expression:serum RGD PMID:9002300 PMID:9933608 RGD:1601191 RGD:2313959 NCBI chr20:2,757,939...2,760,356
Ensembl chr20:2,759,237...2,760,686 		JBrowse link
G APOA5 apolipoprotein A5 ISO DNA:SNP: :rs662799 (human) RGD PMID:25606423 RGD:329901774 NCBI chr 1:108,154,880...108,158,998
Ensembl chr 1:108,155,641...108,157,375 		JBrowse link
G APOB apolipoprotein B ISO associated with Insulin Resistance;protein:increased expression:plasma RGD PMID:16752182 PMID:19592617 RGD:1601202 RGD:2313974 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO mRNA:increased expression:liver RGD PMID:8781289 RGD:1626278 NCBI chr11:7,696,571...7,700,424
Ensembl chr11:7,696,259...7,700,643 		JBrowse link
G APOC2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 6:38,406,829...38,411,239
Ensembl chr 6:38,409,641...38,410,927 		JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 1:108,196,283...108,199,274
Ensembl chr 1:108,196,939...108,199,342 		JBrowse link
G APOD apolipoprotein D ISO DNA:polymorphism RGD PMID:7913935 RGD:2311179 NCBI chr15:89,612,210...89,624,038
Ensembl chr15:89,612,040...89,624,012 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:9002300 PMID:17192461 PMID:20975297 RGD:1601191 RGD:1601230 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G APP amyloid beta precursor protein treatment ISO mRNA,protein:increased expression:adipocyte,plasma: RGD PMID:19672057 RGD:10054260 NCBI chr 2:66,037,224...66,320,860
Ensembl chr 2:66,037,261...66,321,306 		JBrowse link
G AQP7 aquaporin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325777 NCBI chr12:46,866,519...46,886,525 JBrowse link
G AR androgen receptor susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG
OMIM:601665
DNA:repeats: :GGN, CAG		 RGD
MouseDO		 PMID:12532157 PMID:18805913 RGD:1601246 RGD:2306771 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		JBrowse link
G ARL13B ARF like GTPase 13B ISO protein:decreased expression:hypothalamus, cilium (mouse) RGD PMID:22581473 RGD:11553936 NCBI chr22:86,648,924...86,722,006
Ensembl chr22:86,651,076...86,721,948 		JBrowse link
G ASIP agouti signaling protein susceptibility ISO DNA, mRNA:deletion, insertions, increased expression: multiple organs
CTD Direct Evidence: marker/mechanism
OMIM:601665		 RGD
CTD
MouseDO		 PMID:1473152 PMID:7987393 PMID:8146154 PMID:25447408 PMID:25448685 More... RGD:1625724 NCBI chr 2:38,479,328...38,568,756 JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 susceptibility ISO RGD PMID:16286513 RGD:1601250 NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692 		JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:25822172 RGD:14696745 NCBI chr 3:91,618,147...91,629,177
Ensembl chr 3:91,618,957...91,627,679 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta treatment ISO RGD PMID:26880535 RGD:13782133 NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756 		JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma ISO RGD PMID:19549744 RGD:14696798 NCBI chr 9:7,836,863...7,853,645
Ensembl chr 9:7,836,845...7,854,078 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:27874268 RGD:13792665 NCBI chr 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002 		JBrowse link
G ATP5MC2 ATP synthase membrane subunit c locus 2 ISO RGD PMID:26709097 RGD:11535661 NCBI chr11:49,768,977...49,780,664
Ensembl chr11:49,768,783...49,780,081 		JBrowse link
G ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr20:86,141,336...86,184,039
Ensembl chr20:86,141,464...86,173,538 		JBrowse link
G ATRN attractin ISO RGD PMID:10086355 RGD:734623 NCBI chr 2:34,157,240...34,335,902
Ensembl chr 2:34,157,293...34,335,923 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding ISO associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue
mRNA:decreased expression:fat pad
mRNA, protein:decreased expression:fat pad, liver,plasma
protein:decreased expression:plasma		 RGD PMID:19934249 PMID:21136593 PMID:29755407 RGD:153350147 RGD:153350156 RGD:153350157 NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363 		JBrowse link
G B2M beta-2-microglobulin ISO protein:increased expression:urine RGD PMID:15517379 RGD:1601309 NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809 		JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:increased expression:heart left ventricle RGD PMID:18070754 RGD:2292682 NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432 		JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO mRNA:decreased expression:adipose tissue RGD PMID:22187378 RGD:14390162 NCBI chr 9:28,279,479...28,284,825
Ensembl chr 9:28,279,523...28,285,937 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 no_association ISO DNA:mutation: :p.M390R (human)
OMIM:601665		 RGD
MouseDO		 PMID:14993910 PMID:33722691 RGD:1601314 RGD:243065268 NCBI chr 1:7,737,887...7,765,022
Ensembl chr 1:7,737,578...7,764,732 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr 5:42,395,387...42,430,204
Ensembl chr 5:42,395,230...42,430,154 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 onset ISO DNA:SNPs
OMIM:601665		 RGD
MouseDO		 PMID:17003356 RGD:1601311 NCBI chr26:10,742,982...10,799,615
Ensembl chr26:10,743,850...10,775,908 		JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus RGD PMID:17184856 RGD:1625733 NCBI chr24:74,136,464...74,146,668
Ensembl chr24:74,145,531...74,146,592 		JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:18070754 RGD:2292682 NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980 		JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr17:39,113,519...39,126,267 JBrowse link
G BRS3 bombesin receptor subtype 3 ISO RGD PMID:9367152 RGD:734661 NCBI chr  X:111,488,422...111,496,637
Ensembl chr  X:111,489,165...111,493,375 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23118029 RGD:7411625 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G C5AR1 complement C5a receptor 1 treatment ISO RGD PMID:23118029 RGD:7411625 NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845 		JBrowse link
G CA3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 8:80,805,296...80,816,127
Ensembl chr 8:80,805,134...80,816,190 		JBrowse link
G CADM2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:31341224 RGD:15092077 NCBI chr22:90,879,537...91,994,144 JBrowse link
G CANX calnexin ISO protein:increased expression:subcutaneous adipose tissue RGD PMID:18567819 RGD:2314284 NCBI chr23:81,422,701...81,454,683
Ensembl chr23:81,422,693...81,482,332 		JBrowse link
G CAPN10 calpain 10 ISO DNA:SNPs RGD PMID:16752174 RGD:1625047 NCBI chr10:126,613,722...126,626,388 JBrowse link
G CARTPT CART prepropeptide no_association
susceptibility		 ISO DNA:polymorphism:3' utr (human)
ClinVar Annotator: match by term: Obesity
DNA:deletion, substitution: :1457delA, 1475A>G (human)		 RGD
OMIM
ClinVar		 PMID:10574510 PMID:10805512 PMID:11522684 PMID:15326462 PMID:25741868 RGD:2313633 RGD:2313634 NCBI chr 4:66,058,755...66,060,635
Ensembl chr 4:66,058,769...66,061,112 		JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849 		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 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481 		JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:22492718 RGD:6784520 NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		JBrowse link
G CAV2 caveolin 2 ISO RGD PMID:22492718 RGD:6784520 NCBI chr21:85,197,452...85,206,521
Ensembl chr21:85,197,537...85,206,588 		JBrowse link
G CCKAR cholecystokinin A receptor ISO DNA:deletion RGD PMID:9192855 PMID:9530226 RGD:7257724 RGD:734711 NCBI chr27:23,855,766...23,866,104
Ensembl chr27:23,856,705...23,865,367 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein, mRNA:increased expression:plasma, fat		 RGD
CTD		 PMID:17803693 PMID:18469848 PMID:29035695 RGD:2306993 RGD:2307038 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum RGD PMID:18469848 RGD:2307038 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr16:27,777,795...27,780,413 JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135 		JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:increased expression:skeletal muscle, T-tubule
mRNA, protein:increased expression:liver, gastrocnemius		 RGD PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 RGD:11041118 RGD:11041132 RGD:6893497 RGD:6893542 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G CD40 CD40 molecule treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21670556 PMID:29035695 RGD:7248753 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:20660932 PMID:21817098 RGD:5490592 RGD:5490970 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042 		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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861 		JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr17:50,970,764...51,673,551
Ensembl chr17:50,970,678...51,673,579 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:liver RGD PMID:23357529 RGD:10045356 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO RGD PMID:16627576 RGD:2301355 NCBI chr23:19,049,612...19,061,783
Ensembl chr23:19,049,262...19,061,740 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977 		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 chr14:82,857,947...82,875,904
Ensembl chr14:82,854,314...82,876,618 		JBrowse link
G CERS1 ceramide synthase 1 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:30605666 RGD:156431060 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G CFD complement factor D ISO mRNA, protein:decreased expression:adipocyte, serum RGD PMID:2197880 PMID:14564690 RGD:1624324 RGD:1624327 NCBI chr 6:608,821...612,382
Ensembl chr 6:608,800...613,498 		JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO protein:amino acid substitution:V115F
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16186410 PMID:20975297 RGD:1625390 NCBI chr18:70,836,188...70,853,917 JBrowse link
G CNR1 cannabinoid receptor 1 no_association ISO CTD Direct Evidence: marker/mechanism
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus
DNA:hypermethylation:promoter, peripheral blood mononuclear cell
DNA:polymorphism:exon:3813A>G (human)
DNA:polymorphism: :1256C>A, 1419+1G>C (human)		 CTD
RGD		 PMID:17292652 PMID:17405839 PMID:18722357 PMID:19325539 PMID:19530697 More... RGD:1626325 RGD:1626326 RGD:2314629 RGD:2314630 RGD:401827956 NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688 		JBrowse link
G CNTF ciliary neurotrophic factor no_association ISO DNA:point mutation:intron:G>A RGD PMID:12404108 PMID:14747836 RGD:1626113 RGD:1626114 NCBI chr 1:14,724,562...14,730,698
Ensembl chr 1:14,728,383...14,730,150 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr10:74,455,133...74,493,392 JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G COMT catechol-O-methyltransferase susceptibility ISO DNA:polymorphism:exon RGD PMID:17497175 RGD:2289713 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		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		 RGD
CTD		 PMID:11836301 PMID:16959692 RGD:2313645 NCBI chr 3:24,108,854...24,161,669
Ensembl chr 3:24,109,416...24,161,408 		JBrowse link
G CPE carboxypeptidase E no_association ISO DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin
DNA:SNP:intron (rs1946816, rs4481204) (human)
OMIM:601665
no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:7663508 PMID:9662053 PMID:15358678 PMID:23434795 PMID:23900445 RGD:1626181 RGD:1626184 RGD:405650675 NCBI chr 7:111,747,265...111,867,548
Ensembl chr 7:111,747,172...111,868,754 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO RGD PMID:15481768 RGD:2303517 NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A treatment ISO mRNA:decreased expression:liver
mRNA:decreased expression:left ventricle myocardium (rat)		 RGD PMID:16751799 PMID:33310031 RGD:2311345 RGD:329955450 NCBI chr 1:5,704,275...5,784,077
Ensembl chr 1:5,730,853...5,784,337 		JBrowse link
G CRH corticotropin releasing hormone ISO RGD PMID:11564446 RGD:5508830 NCBI chr 8:62,052,155...62,056,424
Ensembl chr 8:62,052,592...62,053,182 		JBrowse link
G CRHBP corticotropin releasing hormone binding protein ISO mRNA:decreased expression:anterior pituitary gland (rat) RGD PMID:10600923 RGD:5508840 NCBI chr 4:71,203,335...71,223,179
Ensembl chr 4:71,205,932...71,223,172 		JBrowse link
G CRP C-reactive protein disease_progression ISO protein:increased expression:serum
mRNA:increased expression:liver (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20660932 PMID:24042701 PMID:25612518 RGD:15045599 RGD:5490970 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
G CS citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr11:52,224,667...52,253,552
Ensembl chr11:52,222,724...52,253,307 		JBrowse link
G CST3 cystatin C ISO protein:increased expression:serum (human)
protein:increased expression:plasma (rat)		 RGD PMID:18374694 PMID:18946178 RGD:2314297 RGD:2314346 NCBI chr 2:52,834,497...52,838,785
Ensembl chr 2:52,832,181...52,838,865 		JBrowse link
G CTSC cathepsin C ISO RGD PMID:3705543 RGD:1599645 NCBI chr 1:79,426,556...79,468,464
Ensembl chr 1:79,426,549...79,468,340 		JBrowse link
G CTSS cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:21156398
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO DNA:SNP: :p.T280M (human) RGD PMID:20523302 RGD:4891903 NCBI chr15:136,757...153,316
Ensembl chr15:150,718...151,785 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO RGD PMID:25016030 RGD:13673852 NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309 		JBrowse link
G CYB5A cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr18:5,599,198...5,636,620
Ensembl chr18:5,599,206...5,640,012 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr14:35,030,011...35,057,164
Ensembl chr14:35,038,654...35,057,176 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 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 chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:liver,fat		 CTD
RGD		 PMID:17049493 PMID:23954404 RGD:1626307 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO associated with hypertension:DNA:SNP:CDS: rs12794714 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G DCN decorin ISO RGD PMID:17244723 RGD:1600551 NCBI chr11:86,552,392...86,590,229
Ensembl chr11:86,551,072...86,586,891 		JBrowse link
G DCXR dicarbonyl and L-xylulose reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr16:73,923,170...73,925,025
Ensembl chr16:73,919,463...73,925,277 		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 chr 8:36,246,966...36,278,543
Ensembl chr 8:36,247,114...36,275,899 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:487,497...510,440 JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:decreased expression:kidney RGD PMID:11340353 RGD:4892260 NCBI chr 8:6,643,753...6,652,209
Ensembl chr 8:6,643,556...6,651,699 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment
no_association		 ISO DNA:polymorphism:C97T RGD PMID:10802663 PMID:14569040 PMID:18183944 RGD:10401058 RGD:1625597 RGD:734536 NCBI chr 8:138,531,113...138,541,721
Ensembl chr 8:138,531,384...138,541,637 		JBrowse link
G DIO2 iodothyronine deiodinase 2 no_association ISO protein:substitution:Thr92Ala RGD PMID:17077128 RGD:1626439 NCBI chr24:57,521,806...57,536,508 JBrowse link
G DIP2C disco interacting protein 2 homolog C ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 9:293,786...668,102
Ensembl chr 9:293,705...455,882 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 1:103,276,780...103,377,110
Ensembl chr 1:103,286,346...103,378,387 		JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:26825290 PMID:27328748 PMID:28492532 NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:24614070 PMID:25741868 PMID:28492532 NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679 		JBrowse link
G DRD1 dopamine receptor D1 treatment ISO protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) RGD PMID:15983225 PMID:17191082 RGD:7248449 RGD:7248552 NCBI chr23:77,587,340...77,591,434 JBrowse link
G DRD2 dopamine receptor D2 ISO mRNA:decreased expression:ventral tegmental area (rat)
DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple		 RGD PMID:15939106 PMID:17108814 PMID:18477764 RGD:1600904 RGD:1600905 RGD:2311581 NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736 		JBrowse link
G DRD4 dopamine receptor D4 ISO protein:decreased expression:kidney (rat) RGD PMID:20810614 RGD:7248616 NCBI chr 1:454,018...459,582 JBrowse link
G DUSP1 dual specificity phosphatase 1 susceptibility ISO RGD PMID:16814733 RGD:2298673 NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532 		JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 6:33,439,490...33,449,349
Ensembl chr 6:33,439,682...33,449,272 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr26:53,212,299...53,222,805 JBrowse link
G EDN1 endothelin 1 ISO DNA:polymorphism:exon:p.K198N (human) RGD PMID:17444275 RGD:1625065 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198 		JBrowse link
G EFNB1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098442 NCBI chr  X:58,668,572...58,681,583
Ensembl chr  X:58,668,581...58,681,855 		JBrowse link
G EGFR epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (mouse) RGD PMID:3624263 RGD:5131534 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EHD1 EH domain containing 1 ISO RGD PMID:21365757 RGD:8661255 NCBI chr 1:9,356,128...9,382,204
Ensembl chr 1:9,356,177...9,382,832 		JBrowse link
G ELOVL6 ELOVL fatty acid elongase 6 ISO mRNA,protein:increased expression:liver: RGD PMID:31988048 RGD:21403676 NCBI chr 7:57,949,910...58,095,637 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 chr20:113,306,936...113,338,125
Ensembl chr20:113,307,026...113,337,976 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr13:41,670,416...41,755,549 JBrowse link
G ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26441656 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11095962 PMID:20667977 PMID:22230815 RGD:8553065 RGD:8553199 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:22230815 RGD:8553199 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		JBrowse link
G ESRRA estrogen related receptor alpha no_association ISO RGD PMID:16755280 RGD:1625637 NCBI chr 1:9,918,741...9,929,481
Ensembl chr 1:9,917,436...9,929,450 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 7:105,214,231...105,252,100
Ensembl chr 7:105,213,653...105,254,502 		JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9258277 PMID:14513073 PMID:16739871 PMID:19329212 RGD:1625710 RGD:2312379 RGD:2312395 RGD:2312404 NCBI chr 3:91,109,864...91,122,707
Ensembl chr 3:91,110,380...91,123,327 		JBrowse link
G FABP1 fatty acid binding protein 1 ISO Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice RGD PMID:17058218 RGD:1626440 NCBI chr14:18,660,058...18,666,730
Ensembl chr14:18,659,836...18,667,127 		JBrowse link
G FABP2 fatty acid binding protein 2 onset
no_association		 ISO Early onset of obesity and resistance to reducing visceral white adipose tissue; DNA:polymorphism:CDS:amino acid A54T, in Japanese women with a BMI > 25
DNA:polymorphism:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups		 RGD PMID:14981227 PMID:15620432 PMID:17211557 RGD:1578458 RGD:1626400 RGD:1626407 NCBI chr 7:66,797,832...66,803,459
Ensembl chr 7:66,798,990...66,802,738 		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 chr20:101,464,899...101,472,223
Ensembl chr20:101,464,960...101,474,350 		JBrowse link
G FABP4 fatty acid binding protein 4 ISO RGD PMID:8910278 RGD:737747 NCBI chr 8:76,895,516...76,900,153
Ensembl chr 8:76,894,512...76,900,212 		JBrowse link
G FADD Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr 1:4,358,314...4,361,863 JBrowse link
G FADS1 fatty acid desaturase 1 ISO protein:decreased expression:microsomes, liver RGD PMID:8446010 RGD:1625421 NCBI chr 1:12,037,173...12,051,907
Ensembl chr 1:12,037,513...12,055,159 		JBrowse link
G FANCA FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591 		JBrowse link
G FANCC FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr12:107,780,087...107,991,828
Ensembl chr12:107,845,135...107,991,237 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551 		JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr14:59,276,380...59,375,635
Ensembl chr14:59,276,447...59,374,442 		JBrowse link
G FGF21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:24184811 PMID:26797127 NCBI chr 6:42,006,125...42,008,749
Ensembl chr 6:42,006,064...42,008,736 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO mRNA:increased expression:hypothalamus:
mRNA:increased expression:adipose tissue:		 RGD PMID:21430024 RGD:10402094 NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508 		JBrowse link
G FGG fibrinogen gamma chain ISO protein:decreased expression:plasma RGD PMID:22134356 RGD:11352709 NCBI chr 7:101,148,457...101,157,245
Ensembl chr 7:101,148,058...101,157,111 		JBrowse link
G FGGY FGGY carbohydrate kinase domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29220483 NCBI chr20:73,249,685...73,690,591
Ensembl chr20:73,249,684...73,670,860 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27071101 NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514 		JBrowse link
G FOXA2 forkhead box A2 ISO RGD PMID:12865419 RGD:1627574 NCBI chr 2:51,577,127...51,585,168
Ensembl chr 2:51,577,833...51,580,297 		JBrowse link
G FOXC2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T(human) RGD PMID:15601967 RGD:1601218 NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134 		JBrowse link
G FOXO3 forkhead box O3 ISO protein:increased expression:myocardium:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16467659 PMID:23954404 RGD:10402201 NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725 		JBrowse link
G FTL ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 6:42,196,682...42,198,575
Ensembl chr 6:42,196,538...42,199,614 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase severity ISO DNA:SNP: :rs3751812 (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:pancreas
DNA:SNP: :rs9939609 (human)
DNA:SNP:intron:rs9939609 (human)
DNA:SNP:intron:rs17817449 (human)
mRNA, protein:increased expression:liver
DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human) 		RGD
CTD		 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 chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747 		JBrowse link
G FXN frataxin ISO DNA:deletion:exon (mouse) RGD PMID:17404227 RGD:2307045 NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO mRNA, protein:increased expression:white fat
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver		 RGD PMID:15923630 PMID:19230846 RGD:2307340 RGD:2307347 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism RGD PMID:12080446 RGD:1626491 NCBI chr23:64,020,770...64,038,419
Ensembl chr23:64,021,842...64,039,563 		JBrowse link
G GAL galanin and GMAP prepropeptide no_association ISO protein:increased expression:plasma RGD PMID:11220530 PMID:15930442 RGD:1624334 RGD:1625748 NCBI chr 1:5,849,947...5,857,355
Ensembl chr 1:5,849,952...5,857,072 		JBrowse link
G GALP galanin like peptide ISO mRNA:decreased expression:arcuate nucleus RGD PMID:15256810 RGD:2313739 NCBI chr 6:48,762,469...48,775,642
Ensembl chr 6:48,764,036...48,775,136 		JBrowse link
G GALR1 galanin receptor 1 no_association ISO RGD PMID:15930442 RGD:1625748 NCBI chr18:2,719,736...2,739,018 JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase treatment ISO RGD PMID:27987997 RGD:13792668 NCBI chr11:6,569,029...6,572,877 JBrowse link
G GAS7 growth arrest specific 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr16:9,256,305...9,546,996
Ensembl chr16:9,258,438...9,385,235 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:20065960 NCBI chr10:47,550,097...47,560,610 JBrowse link
G GCK glucokinase ISO DNA, mRNA, protein:hypermethylation, increased expression:liver RGD PMID:21239437 RGD:7488967 NCBI chr21:14,475,723...14,523,086
Ensembl chr21:14,507,902...14,523,850 		JBrowse link
G GCKR glucokinase regulator no_association ISO DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes RGD PMID:12739015 RGD:1626607 NCBI chr14:80,069,662...80,124,038
Ensembl chr14:80,100,436...80,123,686 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11118009 PMID:20882379 RGD:1625423 NCBI chr14:37,740,332...37,803,389
Ensembl chr14:37,740,358...37,802,143 		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 ClinVar
OMIM		 PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO DNA:point mutation:exon:F279L RGD PMID:16511600 RGD:1625270 NCBI chr15:17,008,185...17,013,504
Ensembl chr15:17,009,369...17,012,618 		JBrowse link
G GIP gastric inhibitory polypeptide ISO associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human)
protein:increased expression:plasma (rat)		 RGD PMID:3546047 PMID:18063845 PMID:19375579 RGD:2312547 RGD:2312551 RGD:2312588 NCBI chr16:69,367,030...69,377,563
Ensembl chr16:69,367,207...69,377,155 		JBrowse link
G GIPR gastric inhibitory polypeptide receptor susceptibility ISO mRNA:splice variant:pancreatic islet (mouse)
mRNA:reduced expression:fat tissue (human)
DNA:polymorphism:intron 1 C>A (rs2302382) (human)		 RGD PMID:12068290 PMID:17395281 PMID:17971513 PMID:19254363 RGD:2312612 RGD:2312615 RGD:2312616 RGD:737714 NCBI chr 6:39,108,319...39,122,973
Ensembl chr 6:39,110,387...39,122,874 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA, protein:decreased expression:mesenteric artery RGD PMID:18324386 RGD:7207466
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 More... NCBI chr12:72,876,992...72,990,671
Ensembl chr12:72,877,017...72,990,668 		JBrowse link
G GLP1R glucagon like peptide 1 receptor ISO mRNA:decreased expression:hypothalamus medial zone
DNA:SNP:intron (rs2268641) (human)		 RGD PMID:15279492 PMID:23900445 RGD:1624351 RGD:405650675 NCBI chr17:33,053,442...33,092,806
Ensembl chr17:33,054,574...33,091,422 		JBrowse link
G GLRX glutaredoxin ISO protein:increased expression:renal visceral adipose: RGD PMID:23404913 RGD:9686064 NCBI chr 4:89,687,354...89,696,236
Ensembl chr 4:89,685,984...89,696,231 		JBrowse link
G GLUL glutamate-ammonia ligase 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		 RGD
CTD		 PMID:15481771 PMID:20882379 RGD:2301479 NCBI chr25:46,988,853...46,998,112
Ensembl chr25:46,989,205...47,000,555 		JBrowse link
G GNB3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15961981 PMID:16141801 NCBI chr11:6,873,043...6,880,676
Ensembl chr11:6,874,351...6,880,179 		JBrowse link
G GNPDA2 glucosamine-6-phosphate deaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr27:5,562,894...5,587,459
Ensembl chr27:5,562,916...5,586,543 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO protein:increased expression:skeletal muscle tissue, T-tubule (rat) RGD PMID:23743348 RGD:11041118 NCBI chr 5:44,645,721...44,670,917
Ensembl chr 5:44,645,602...44,670,918 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO mRNA:increased expression:pancreatic islet RGD PMID:9032096 RGD:2313659 NCBI chr 9:105,049,954...105,083,750
Ensembl chr 9:105,049,711...105,113,374 		JBrowse link
G GPR12 G protein-coupled receptor 12 ISO OMIM:601665 MouseDO NCBI chr 3:5,985,479...5,991,078
Ensembl chr 3:5,989,120...5,990,124 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr10:2,564,156...2,571,442 JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr 5:32,743,850...32,791,299
Ensembl chr 5:32,744,065...32,791,479 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15184668 PMID:30298849 RGD:401960083 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:embryo, blastocyst
protein:decreased expression:plasma
mRNA:decreased expression:adipose tissue (rat)
protein:decreased expression, activity:plasma (mouse)		 CTD
RGD		 PMID:11328671 PMID:18562625 PMID:19212806 PMID:19270708 PMID:21535898 More... RGD:2307430 RGD:2312633 RGD:401827913 RGD:401827923 RGD:5683906 NCBI chr23:53,576,950...53,585,321 JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 1:97,003,564...97,377,850
Ensembl chr 1:97,004,515...97,378,597 		JBrowse link
G GUCY2C guanylate cyclase 2C ISO OMIM:601665 MouseDO NCBI chr11:14,534,787...14,668,746
Ensembl chr11:14,534,883...14,613,255 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO protein:increased expression:skeletal muscle
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16088331 PMID:20882379 RGD:2302228 NCBI chr 7:55,919,499...55,965,074
Ensembl chr 7:55,919,623...55,964,857 		JBrowse link
G HCRT hypocretin neuropeptide precursor ISO protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity
mRNA:increased expression:perifornical nucleus
protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12560202 PMID:15970339 PMID:16135994 PMID:27071101 RGD:1358428 RGD:1600932 RGD:1600933 NCBI chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292 		JBrowse link
G HDAC4 histone deacetylase 4 ISO mRNA,protein:decreased expression:mononuclear cell, adipose tissue: RGD PMID:24086512 RGD:9681453 NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227 		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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:serum RGD PMID:12706940 RGD:1642704 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		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 chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G HK1 hexokinase 1 susceptibility ISO RGD PMID:131232 PMID:12524468 RGD:1601527 RGD:1601528 NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843 		JBrowse link
G HK2 hexokinase 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:gastrocnemius		 CTD
RGD		 PMID:11319725 PMID:16555472 PMID:20882379 RGD:1624365 RGD:2313227 NCBI chr14:32,385,237...32,443,864
Ensembl chr14:32,385,249...32,442,403 		JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO RGD PMID:10742101 RGD:1601569 NCBI chr11:61,509,114...61,655,633 JBrowse link
G HMGB2 high mobility group box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 7:119,440,089...119,442,806
Ensembl chr 7:119,440,468...119,443,578 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO protein:decreased activity:liver (rat) RGD PMID:1685984 RGD:2326155 NCBI chr 4:42,083,523...42,107,410
Ensembl chr 4:42,080,949...42,107,409 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18334666 PMID:18375438 PMID:19171794 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G HOXB5 homeobox B5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22484627 NCBI chr16:69,004,385...69,008,789
Ensembl chr16:69,004,251...69,006,827 		JBrowse link
G HRH3 histamine receptor H3 ISO RGD PMID:17189541 RGD:1626405 NCBI chr 2:2,019,878...2,025,218
Ensembl chr 2:2,020,286...2,025,202 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased		 CTD
RGD		 PMID:15131764 PMID:16612591 PMID:16914598 PMID:17628001 PMID:21786805 RGD:1625071 RGD:1625072 RGD:1625073 NCBI chr25:19,720,096...19,772,806
Ensembl chr25:19,719,848...19,750,200 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 resistance ISO transgenic mice expressing human HSD11B2
mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat		 RGD PMID:15793240 PMID:17208436 RGD:1625081 RGD:1625083 NCBI chr 5:60,017,967...60,040,959
Ensembl chr 5:60,019,434...60,025,353 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431 		JBrowse link
G HTR1B 5-hydroxytryptamine receptor 1B ISO protein:increase expression:arcuate nucleus RGD PMID:10564740 RGD:1626450 NCBI chr13:2,143,646...2,145,943
Ensembl chr13:2,144,313...2,145,485 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A no_association
susceptibility		 ISO DNA:polymorphism:promoter:-1438G>A
DNA:SNP:intron (rs912127) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16328014 PMID:16491645 PMID:17097612 PMID:23900445 RGD:1624369 RGD:1624370 RGD:405650675 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432 		JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C susceptibility ISO associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-759C>T		 RGD
CTD		 PMID:15048662 PMID:17016522 PMID:17702092 PMID:19142110 RGD:1624982 RGD:1624991 NCBI chr  X:102,190,355...102,499,928
Ensembl chr  X:102,325,731...102,497,278 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:submandibular gland (rat)		 RGD
CTD		 PMID:11782876 PMID:20004360 PMID:20973827 RGD:4145329 RGD:4145463 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO RGD PMID:14969338 RGD:1626475 NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505 		JBrowse link
G IFNG interferon gamma ISO associated with Asthma;protein:increased expression:serum RGD PMID:19575934 RGD:2311494 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO mRNA:decreased expression:heart (rat) RGD PMID:11009458 RGD:12904882 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11528401 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:17259371 PMID:17426323 PMID:22537059 RGD:1626478 RGD:1626479 NCBI chr10:102,469,611...102,503,229
Ensembl chr10:102,469,669...102,503,276 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA, protein:decreased expression:pancreatic fat pad RGD PMID:22067319 RGD:10402755 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr11:49,209,135...49,213,803
Ensembl chr11:49,209,136...49,213,858 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO protein:increased expression:liver: RGD PMID:15685173 RGD:10045952 NCBI chr 8:40,267,532...40,325,282
Ensembl chr 8:40,268,079...40,326,381 		JBrowse link
G IL10 interleukin 10 ISO protein:increase expression:serum RGD PMID:18787467 PMID:28843383 RGD:14975146 RGD:2308945 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:altered expression:skeletal muscle, plasma RGD PMID:18697873 RGD:2313573 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:16732281 PMID:20490358 RGD:14695532 RGD:7175343 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1B interleukin 1 beta treatment ISO protein:increased expression:plasma (mouse)
protein:increased expression:kidney (rat)		 RGD PMID:16567518 PMID:20490358 PMID:23150506 PMID:24146106 PMID:28843383 RGD:10450599 RGD:14975146 RGD:1626637 RGD:7175086 RGD:7175343 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mRNA, protein:increased expression:adipose tissue RGD PMID:12716739 PMID:12975454 RGD:1626664 RGD:1626665 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL3 interleukin 3 ISO protein: decreased expression: plasma RGD PMID:21203453 RGD:5686875 NCBI chr23:34,894,630...34,899,105 JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
DNA:polymorphism>promoter:174G>C
mRNA:increased expression:islet of Langerhans
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16493118 PMID:19228869 PMID:20141834 PMID:21826222 PMID:24042701 RGD:10402828 RGD:1601582 RGD:2307257 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL6R interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A
DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human)
protein:increased expression:serum
DNA:duplication		 RGD PMID:12917504 PMID:16817825 PMID:17434052 PMID:17984249 RGD:10402807 RGD:1625428 RGD:1625429 RGD:1625430 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610 		JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skeletal muscle, white adipose tissue		 CTD
RGD		 PMID:19668215 PMID:23349329 RGD:12911211 NCBI chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO DNA:SNPs: :rs2276047,snp8,rs9886(human) RGD PMID:15220217 RGD:1626127 NCBI chr 1:63,443,819...63,459,067
Ensembl chr 1:63,444,713...63,459,776 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:8923850 PMID:11528401 PMID:29035695 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22982470 PMID:23954404 RGD:7207062 NCBI chr10:112,748,283...112,812,368 JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:monocyte (human)		 CTD
RGD		 PMID:21446916 PMID:29035695 RGD:329901665 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO RGD PMID:22134356 RGD:11352709 NCBI chr22:14,194,979...14,216,180
Ensembl chr22:14,195,701...14,213,603 		JBrowse link
G JAK2 Janus kinase 2 ISO mRNA:decreased expression:omental adipose tissue:by microarray
protein:decreased expression:hypothalamus		 RGD PMID:14630696 PMID:23397595 RGD:10411893 RGD:1627661 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:heart RGD PMID:30629164 RGD:401900736 NCBI chr 6:16,754,553...16,756,458
Ensembl chr 6:16,755,247...16,756,290 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:7889573 PMID:9024139 PMID:9927399 PMID:10753933 PMID:10973849 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27605626 NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716 		JBrowse link
G KCTD15 potassium channel tetramerization domain containing 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 6:28,839,038...28,857,506
Ensembl chr 6:28,840,526...28,858,037 		JBrowse link
G KDM3A lysine demethylase 3A ISO OMIM:601665 RGD
MouseDO		 PMID:19875498 RGD:9590220 NCBI chr14:20,668,215...20,721,854
Ensembl chr14:20,668,821...20,720,759 		JBrowse link
G KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr  X:60,135,371...60,266,301 JBrowse link
G KITLG KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083 		JBrowse link
G LACTB lactamase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18344982 NCBI chr26:20,399,882...20,419,422
Ensembl chr26:20,399,858...20,419,369 		JBrowse link
G LBP lipopolysaccharide binding protein treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19917068 PMID:23349936 RGD:9685197 NCBI chr 2:25,375,364...25,407,181
Ensembl chr 2:25,374,755...25,406,839 		JBrowse link
G LCN2 lipocalin 2 ISO protein:increased expression:serum
mRNA:decreased expression:ovary, testicle
mRNA:increased expression:epididymal fat pad, adipose cell (rat)		 RGD PMID:18292240 PMID:21143924 PMID:32627017 RGD:126790490 RGD:126790530 RGD:2316514 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554529 NCBI chr 6:10,062,204...10,091,780
Ensembl chr 6:10,062,790...10,091,377 		JBrowse link
G LEP leptin treatment
no_association		 ISO ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency
in a US Caucasian population
mouse protein in a rat model		 RGD
ClinVar		 PMID:10029567 PMID:15910756 PMID:23793169 PMID:25741868 PMID:28492532 RGD:10053612 RGD:10053638 RGD:1643130 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LEPR leptin receptor disease_progression
treatment
susceptibility
no_association
sexual_dimorphism		 ISO ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder
DNA:polymorphism:exon:p.Q223R (human)
compared to BN		 RGD
ClinVar		 PMID:8666155 PMID:9545018 PMID:11354636 PMID:11380591 PMID:11443193 More... RGD:10412018 RGD:10412023 RGD:12911217 RGD:401965412 RGD:5128855 RGD:7365117 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LEPROT leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr20:67,643,371...67,655,995
Ensembl chr20:67,639,280...67,655,900 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:altered expression:liver, plasma (rat)
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)		 RGD PMID:11544558 PMID:12843191 RGD:2308784 RGD:2308835 NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO mRNA:decreased expression:white fat RGD PMID:17712951 RGD:2313580 NCBI chr 6:36,604,822...36,630,648
Ensembl chr 6:36,605,126...36,630,376 		JBrowse link
G LIPG lipase G, endothelial type ISO protein:increased expression:plasma RGD PMID:16772345 RGD:1641819 NCBI chr18:31,368,189...31,395,103
Ensembl chr18:31,368,857...31,394,278 		JBrowse link
G LOC103214902 sodium/hydrogen exchanger 3 ISO protein:decreased expression:kidney cortex RGD PMID:16757903 RGD:1625672 NCBI chr 4:362,417...408,113
Ensembl chr 4:365,135...408,033 		JBrowse link
G LOC103221743 heat shock 70 kDa protein 1A ISO DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) RGD PMID:11319647 RGD:1626642 NCBI chr17:40,191,695...40,194,459
Ensembl chr17:40,203,936...40,205,858 		JBrowse link
G LOC103223491 peroxisome proliferator-activated receptor alpha treatment ISO mRNA, protein:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr19:28,614,892...28,709,272
Ensembl chr19:28,615,413...28,708,763 		JBrowse link
G LOC103226354 cytochrome c ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317704 NCBI chr21:33,251,825...33,253,298 JBrowse link
G LOC103231119 cardiotrophin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 5:27,579,175...27,586,779
Ensembl chr 5:27,579,987...27,585,759 		JBrowse link
G LOC103231597 cytochrome c oxidase subunit 7C, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr  X:11,261,111...11,261,927 JBrowse link
G LOC103233018 liver carboxylesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr 5:41,710,500...41,745,483 JBrowse link
G LOC103233689 thromboxane A2 receptor ISO mRNA:increased expression:carotid artery RGD PMID:12409963 RGD:1601447 NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761 		JBrowse link
G LOC103239432 myoblast determination protein 1 ISO mRNA:decreased expression:plantaris RGD PMID:18508911 PMID:22349736 RGD:2313320 RGD:9686079 NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284 		JBrowse link
G LOC103243260 corticotropin-releasing factor receptor 1 ISO DNA:SNP:CDS:861C>T (human) RGD PMID:14724656 RGD:1626226 NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712 		JBrowse link
G LOC103243509 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:11784876 PMID:12970262 PMID:21525160 PMID:23281139 PMID:23796510 More... NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192 		JBrowse link
G LPL lipoprotein lipase treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:white fat		 RGD
CTD		 PMID:17712951 PMID:18344982 PMID:18952837 PMID:27160499 PMID:28514832 RGD:13793401 RGD:13794378 RGD:2313300 RGD:2313580 NCBI chr 8:18,009,049...18,038,315
Ensembl chr 8:18,009,093...18,038,598 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO protein:increased phosphorylation:endometrium (human) RGD PMID:20074784 RGD:13782055 NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO protein:increased phosphorylation:endometrium (human) RGD PMID:20074784 RGD:13782055 NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461 		JBrowse link
G MAPT microtubule associated protein tau ISO RGD PMID:25257559 RGD:13800921 NCBI chr16:59,894,400...60,020,723
Ensembl chr16:59,890,221...59,955,612 		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 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		JBrowse link
G MC3R melanocortin 3 receptor susceptibility ISO DNA:missense mutations:cds:p.T6K, p.V81I (human)
ClinVar Annotator: match by term: Obesity		 RGD
ClinVar		 PMID:16123355 RGD:6484587 NCBI chr 2:7,867,355...7,871,292
Ensembl chr 2:7,869,518...7,870,489 		JBrowse link
G MC4R melanocortin 4 receptor ISO 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 Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant
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: SIM1-related condition
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		 ClinVar PMID:9267995 PMID:10078568 PMID:10199800 PMID:10577903 PMID:10585465 More... NCBI chr18:19,380,054...19,386,412
Ensembl chr18:19,380,849...19,381,847 		JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 ISO mRNA:increased expression:hypothalamus RGD PMID:15363890 RGD:1624360 NCBI chr19:23,240,509...23,245,553
Ensembl chr19:23,241,487...23,243,950 		JBrowse link
G ME1 malic enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr13:7,889,211...8,112,793
Ensembl chr13:7,887,984...8,112,533 		JBrowse link
G MFN2 mitofusin 2 ISO mRNA:decreased expression:skeletal muscle tissue (human)
mRNA:decreased expression:liver (rat)		 RGD PMID:12598526 PMID:25336449 RGD:12880438 RGD:1601412 NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693 		JBrowse link
G MGRN1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr 5:4,310,924...4,372,896
Ensembl chr 5:4,310,970...4,375,423 		JBrowse link
G MIF macrophage migration inhibitory factor ISO mRNA, protein:increased expression:mononuclear cell, plasma
DNA:polymorphisms:promoter		 RGD PMID:15472203 PMID:16247506 RGD:1641950 RGD:1641953 NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757 		JBrowse link
G MKKS MKKS centrosomal shuttling protein no_association ISO OMIM:601665
unlikely to play a major role in the pathogenesis of nonsyndromic obesity
protein:substitution:A242S possible contribution 		RGD
MouseDO		 PMID:10973251 PMID:15483080 RGD:1581208 RGD:1601414 NCBI chr 2:27,728,295...27,757,569
Ensembl chr 2:27,736,537...27,757,237 		JBrowse link
G MMP19 matrix metallopeptidase 19 ISO mRNA:increased expression:adipose tissue RGD PMID:12529376 PMID:15169894 RGD:1642022 RGD:1642023 NCBI chr11:51,786,076...51,794,325 JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 CTD
RGD		 PMID:17512313 PMID:21156398 RGD:1642026 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr17:22,922,262...22,957,742
Ensembl chr17:22,922,307...22,957,879 		JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 9:17,751,053...17,849,258
Ensembl chr 9:17,751,133...17,849,406 		JBrowse link
G MT3 metallothionein 3 ISO RGD PMID:21726645 RGD:6480475 NCBI chr 5:42,502,306...42,504,467 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO mRNA, protein:decreased expression:hypothalamus RGD PMID:25807795 RGD:11570513 NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020 		JBrowse link
G MTTP microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphisms RGD PMID:15635487 RGD:1625486 NCBI chr 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:decreased expression:pancreas (rat) RGD PMID:22421529 RGD:7240547 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G MYH10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr16:7,837,527...7,989,687
Ensembl chr16:7,835,843...7,989,788 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:31064749 NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
G MYOG myogenin ISO mRNA:decreased expression:plantaris RGD PMID:18508911 RGD:2313320 NCBI chr25:26,264,872...26,269,652
Ensembl chr25:26,266,717...26,268,867 		JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17618961 PMID:23834033 RGD:1642336 NCBI chr21:75,160,748...75,195,781
Ensembl chr21:75,158,596...75,196,025 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO protein:increased expression:artery RGD PMID:17515452 RGD:2314435 NCBI chr25:45,770,370...45,807,064
Ensembl chr25:45,770,641...45,806,515 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO OMIM:601665 MouseDO NCBI chr14:82,898,368...83,028,137
Ensembl chr14:82,897,348...83,013,589 		JBrowse link
G NCOA3 nuclear receptor coactivator 3 ISO DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer RGD PMID:14557830 RGD:1642050 NCBI chr 2:16,270,218...16,423,381
Ensembl chr 2:16,273,717...16,423,318 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO mRNA:decreased expression:epididymal fat pad RGD PMID:20559011 RGD:13822707 NCBI chr12:47,682,066...47,701,467
Ensembl chr12:47,682,192...47,701,273 		JBrowse link
G NEGR1 neuronal growth regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr20:60,848,712...61,731,563 JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism
OMIM:601665		 CTD
MouseDO		 PMID:16446448 PMID:21285402 NCBI chr26:8,074,706...8,082,437
Ensembl chr26:8,074,310...8,082,123 		JBrowse link
G NEUROD1 neuronal differentiation 1 ISO mRNA:increased expression:pancreas RGD PMID:15979049 RGD:1625044 NCBI chr10:67,203,714...67,208,644
Ensembl chr10:67,205,141...67,206,211 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:hepatocyte:
protein:decreased expression:liver macrophage:		 RGD PMID:32102936 RGD:21201281 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20808804 NCBI chr20:17,865,226...17,869,955
Ensembl chr20:17,867,929...17,868,336 		JBrowse link
G NMB neuromedin B susceptibility ISO protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss
DNA:polymorphism:CDS:401G>A, silent mutation in stop codon, associated with body weight (p=0.02)
DNA:polymorphism:CDS:217C>A, amino acid P73T, associated with disinhibition toward food (p=0.03), susceptibility to hunger (p=0.01) and increased percent body fat (p<0.05)		 RGD PMID:1709601 PMID:11194934 PMID:15585758 RGD:1642059 RGD:1642062 RGD:1642063 NCBI chr29:3,703,390...3,706,463 JBrowse link
G NMU neuromedin U susceptibility ISO DNA:polymorphisms:cds:p.R165W,p.A19E RGD PMID:15448684 PMID:16984985 PMID:17706946 RGD:1642093 RGD:1642094 RGD:1642095 NCBI chr 7:12,931,176...12,967,294
Ensembl chr 7:12,932,226...12,962,741 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase ISO protein:decreased expression:gastrocnemius, soleus RGD PMID:25761734 RGD:13513980 NCBI chr 4:42,377,979...42,476,247
Ensembl chr 4:42,384,435...42,477,002 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:16316351 RGD:1642132 NCBI chr11:112,642,374...112,673,882 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 chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO protein:decreased expression:artery RGD PMID:17623751 PMID:29180887 RGD:13504728 RGD:2292133 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NOX4 NADPH oxidase 4 treatment ISO RGD PMID:30298849 RGD:401960083 NCBI chr 1:80,470,418...80,642,513
Ensembl chr 1:80,470,826...80,642,722 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151714 NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G NPPA natriuretic peptide A ISO associated with Heart Failure; RGD PMID:23566312 RGD:7247714 NCBI chr20:119,942,412...119,946,211
Ensembl chr20:119,944,532...119,945,917 		JBrowse link
G NPPB natriuretic peptide B treatment ISO associated with Diabetes Mellitus, Type 2
associated with hypoxia; protein:increased expression:blood serum (rat)
mRNA:decreased expression:heart		 RGD PMID:21959345 PMID:24009719 PMID:33310031 RGD:329955450 RGD:5685647 RGD:7327171 NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197 		JBrowse link
G NPY neuropeptide Y ISO mRNA, protein:increased expression:hypothalamus RGD PMID:17447163 RGD:10448938 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127 		JBrowse link
G NPY1R neuropeptide Y receptor Y1 susceptibility ISO associated with Hyperinsulinemia
OMIM:601665
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:hypothalamus		 RGD
MouseDO
CTD		 PMID:9861026 PMID:17447163 PMID:20975297 RGD:10448938 RGD:1642306 NCBI chr 7:109,774,700...109,794,543
Ensembl chr 7:109,774,918...109,776,905 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 ISO mRNA:increased expression:hypothalamus
DNA:SNP:promoter:−4448C>A, NCBI refSNP ID=rs12649641; Danish white subjects		 RGD PMID:17019604 PMID:17447163 RGD:10448938 RGD:1642379 NCBI chr 7:101,696,081...101,773,782
Ensembl chr 7:101,770,551...101,771,696 		JBrowse link
G NPY5R neuropeptide Y receptor Y5 susceptibility ISO mRNA:increased expression:hypothalamus
DNA:SNP:utr (Y5R1c52) (human)
DNA:polymorphisms
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10849579 PMID:17447163 PMID:23900445 RGD:10448938 RGD:1625493 RGD:405650675 NCBI chr 7:109,790,907...109,801,929 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17405841 NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599 		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 OMIM
ClinVar		 PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr20:105,850,328...105,853,076
Ensembl chr20:105,850,598...105,853,060 		JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 disease_progression ISO DNA:polymorphism:multiple
mRNA:increased expression:liver (rat)		 RGD PMID:17108812 PMID:20939869 PMID:25612518 RGD:13506790 RGD:15045599 RGD:1626248 NCBI chr 6:43,438,428...43,445,190
Ensembl chr 6:43,437,950...43,446,063 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 disease_progression ISO mRNA:increased expression:liver (rat)
DNA:polymorphism:multiple		 RGD PMID:17108812 PMID:25612518 RGD:15045599 RGD:1626248 NCBI chr 1:18,041,495...18,061,196
Ensembl chr 1:18,041,830...18,051,501 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr22:61,005,404...61,043,016
Ensembl chr22:61,006,667...61,040,832 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 no_association ISO associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human)
protein:polymorphism:N363S 		RGD PMID:16725041 PMID:18246526 PMID:20723946 RGD:1601498 RGD:4892206 RGD:7174717 NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO RGD PMID:30298849 RGD:401960083 NCBI chr 7:94,574,010...94,935,348 JBrowse link
G NRF1 nuclear respiratory factor 1 treatment ISO mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr21:98,227,088...98,377,095
Ensembl chr21:98,268,395...98,377,096 		JBrowse link
G NRXN1 neurexin 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr14:56,051,849...57,202,334 JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364 		JBrowse link
G NUCB2 nucleobindin 2 ISO protein:increased expression:adipose tissue: RGD PMID:22641054 RGD:9831187 NCBI chr 1:47,634,425...47,690,723
Ensembl chr 1:47,634,531...47,689,011 		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, mild, early-onset		 ClinVar PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 NCBI chr20:105,817,738...105,842,188
Ensembl chr20:105,817,213...105,842,180 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr22:45,757,414...45,763,690 JBrowse link
G OPRM1 opioid receptor mu 1 treatment ISO DNA:hypermethylation:promoter, peripheral blood mononuclear cell
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus		 RGD PMID:16876155 PMID:31258545 RGD:401827956 RGD:401842391 NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088 		JBrowse link
G OTC ornithine transcarbamylase ISO protein:increased activity:liver (rat) RGD PMID:1330956 RGD:4144087 NCBI chr  X:35,494,334...35,570,923
Ensembl chr  X:35,494,287...35,570,845 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO mRNA:decreased expression:thalamus (rat) RGD PMID:19219059 RGD:2326191 NCBI chr 4:40,477,983...40,620,971 JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23563609 NCBI chr 1:8,023,496...8,188,192
Ensembl chr 1:8,022,906...8,188,171 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PAX8 paired box 8 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr14:16,236,074...16,299,650
Ensembl chr14:16,233,378...16,297,365 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:6,550,806...6,556,499
Ensembl chr 2:6,549,652...6,556,478 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:90,246,413...90,289,148
Ensembl chr 4:90,248,598...90,289,089 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO protein:increased expression:brainstem RGD PMID:11680901 PMID:15012590 RGD:1642350 RGD:1642351 NCBI chr  X:45,957,760...45,962,588
Ensembl chr  X:45,957,715...45,962,601 		JBrowse link
G PDE3A phosphodiesterase 3A ISO mRNA:decreased expression:heart RGD PMID:9648839 RGD:2300415 NCBI chr11:20,235,814...20,545,740
Ensembl chr11:20,236,430...20,540,900 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:34618683 RGD:242170038 NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO protein:decreased activity:circulating lymphocytes RGD PMID:15897476 RGD:1642637 NCBI chr 8:88,896,049...88,905,430
Ensembl chr 8:88,897,030...88,903,003 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO mRNA:increased expression:exocrine pancreas (human) RGD PMID:15979049 RGD:1625044 NCBI chr 3:7,038,088...7,046,593
Ensembl chr 3:7,041,466...7,045,976 		JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30585412 NCBI chr29:8,220,082...8,229,448
Ensembl chr29:8,221,920...8,229,243 		JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 9:6,267,766...6,354,775
Ensembl chr 9:6,332,570...6,354,932 		JBrowse link
G PGF placental growth factor ISO associated with pancreatic cancer;protein:increased expression:plasma (human)
associated with Pre-eclampsia;protein:increased expression:serum		 RGD PMID:16020476 PMID:16769024 PMID:26861455 RGD:14349030 RGD:1642384 RGD:1642385 NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989 		JBrowse link
G PGR progesterone receptor ISO DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer RGD PMID:14557830 RGD:1642050 NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:21949398 RGD:6482700 NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO protein:decreased expression:soleus
protein:decreased tyrosine phosphorylation:skeletal muscle, liver		 RGD PMID:9399964 PMID:16123202 RGD:1625218 RGD:1625220 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr20:8,540,228...8,547,184
Ensembl chr20:8,540,763...8,545,884 		JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:12818410 RGD:2311677 NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO RGD PMID:21372607 RGD:6484121 NCBI chr 6:37,161,957...37,191,867 JBrowse link
G PLIN1 perilipin 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:g.11482G>A (human)		 CTD
RGD		 PMID:11371650 PMID:15001633 PMID:15985482 RGD:1581041 RGD:737723 NCBI chr29:8,204,071...8,219,974
Ensembl chr29:8,202,035...8,215,921 		JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO OMIM:601665 MouseDO NCBI chr16:6,765,320...6,770,568
Ensembl chr16:6,763,096...6,770,092 		JBrowse link
G PMCH pro-melanin concentrating hormone ISO CTD Direct Evidence: marker/mechanism
associated with Hyperphagia;protein:increased expression:hypothalamus		 CTD
RGD		 PMID:12355323 PMID:12453827 PMID:15363890 RGD:1624360 RGD:1642486 NCBI chr11:97,436,682...97,438,345 JBrowse link
G PNLIP pancreatic lipase susceptibility ISO RGD PMID:15883013 RGD:1358859 NCBI chr 9:109,330,050...109,375,687
Ensembl chr 9:109,352,806...109,375,670 		JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 ISO RGD PMID:11431482 RGD:14985224 NCBI chr19:26,435,302...26,458,368
Ensembl chr19:26,435,599...26,462,210 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956 		JBrowse link
G POMC proopiomelanocortin susceptibility ISO 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
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 disorder		 ClinVar
OMIM		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PON2 paraoxonase 2 ISO protein:increased expression:white adipose tissue RGD PMID:21365757 RGD:8661255 NCBI chr21:53,607,353...53,637,056
Ensembl chr21:53,607,541...53,639,896 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11089532 PMID:30738174
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 PMID:20176998 NCBI chr17:36,695,546...36,779,554
Ensembl chr17:36,695,494...36,779,577 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment
susceptibility		 ISO ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency
DNA:polymorphism		 OMIM
ClinVar
RGD		 PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 More... RGD:2301847 RGD:401960083 NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO mRNA:increased expression:retroperitoneal fat pad (rat)
mRNA:decreased expression:left ventricle myocardium (rat)		 RGD PMID:22401878 PMID:23180161 PMID:23256146 PMID:33310031 RGD:329955450 RGD:7241848 RGD:7242011 RGD:7242183 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PPARGC1B PPARG coactivator 1 beta resistance ISO DNA:polymorphism: :p.A203P
ClinVar Annotator: match by term: Obesity, variation in		 RGD
ClinVar		 PMID:15863669 RGD:1642501 NCBI chr23:52,337,802...52,462,553
Ensembl chr23:52,428,052...52,455,089 		JBrowse link
G PPIA peptidylprolyl isomerase A ISO mRNA:increased expression:blood (human) RGD PMID:32496587 RGD:150383342 NCBI chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462 		JBrowse link
G PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L ISO CTD Direct Evidence: marker/mechanism CTD PMID:18344982 NCBI chr15:29,801,953...30,096,073
Ensembl chr15:29,802,637...29,925,199 		JBrowse link
G PRG2 proteoglycan 2, pro eosinophil major basic protein ISO mRNA:decreased expression:placenta (human) RGD PMID:28125591 RGD:40902990 NCBI chr 1:15,850,181...15,854,511
Ensembl chr 1:15,850,913...15,854,517 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493 		JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr21:75,966,957...76,079,440
Ensembl chr21:75,967,053...76,081,729 		JBrowse link
G PRKCB protein kinase C beta ISO mRNA, protein:increased expression:mononuclear cell RGD PMID:17180352 RGD:1625512 NCBI chr 5:21,558,608...21,940,536
Ensembl chr 5:21,558,441...21,943,864 		JBrowse link
G PRKCD protein kinase C delta ISO protein:decreased expression:heart ventricle RGD PMID:11478406 RGD:1642533 NCBI chr22:14,561,401...14,592,877
Ensembl chr22:14,565,282...14,592,873 		JBrowse link
G PRKCH protein kinase C eta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23563609 NCBI chr24:38,489,535...38,726,028
Ensembl chr24:38,488,970...38,724,879 		JBrowse link
G PRKCI protein kinase C iota ISO OMIM:601665 MouseDO NCBI chr15:19,103,682...19,180,689 JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO protein:increased expression:kidney, glomerulus RGD PMID:23454089 RGD:7777114 NCBI chr 9:78,858,269...80,188,163 JBrowse link
G PRL prolactin ISO RGD PMID:8388614 RGD:1642559 NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631 		JBrowse link
G PRLH prolactin releasing hormone ISO OMIM:601665 RGD
MouseDO		 PMID:15854142 RGD:1641829
G PRLHR prolactin releasing hormone receptor ISO RGD PMID:15854142 RGD:1641829 NCBI chr 9:111,399,821...111,402,946 JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Obesity disorder ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106 		JBrowse link
G PROX1 prospero homeobox 1 ISO OMIM:601665 MouseDO NCBI chr25:15,533,546...15,592,834
Ensembl chr25:15,538,964...15,587,059 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:liver		 CTD
RGD		 PMID:21156398 PMID:21978752 RGD:5508307 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10744717 PMID:20075852 NCBI chr 2:13,385,681...13,459,180
Ensembl chr 2:13,387,727...13,459,105 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
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)
protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001)		 RGD PMID:7666792 PMID:7769120 PMID:9218523 RGD:1642727 RGD:1642732 RGD:1642733 NCBI chr20:89,192,426...89,284,989
Ensembl chr20:89,191,660...89,284,970 		JBrowse link
G PYY peptide YY ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:10898754 PMID:11825645 PMID:16368708 NCBI chr16:62,405,505...62,441,054
Ensembl chr16:62,439,813...62,441,031 		JBrowse link
G RAB21 RAB21, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr11:67,379,415...67,411,424
Ensembl chr11:67,379,397...67,411,368 		JBrowse link
G RAI1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15459175 PMID:19116176 NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr11:43,954,517...43,979,068
Ensembl chr11:43,957,425...43,978,047 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO protein:increased expression:serum: RGD PMID:30873215 PMID:31284705 RGD:15036824 RGD:15036825 NCBI chr21:118,487,199...118,490,561
Ensembl chr21:118,487,506...118,489,516 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546 		JBrowse link
G RBP4 retinol binding protein 4 ameliorates
disease_progression		 ISO mRNA, protein:decreased expression:adipose tissue, serum
protein:increased expression:blood serum (human)		 RGD PMID:17292720 PMID:18401839 PMID:21585349 RGD:2302016 RGD:329845862 RGD:329853312 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO RGD PMID:18356846 RGD:2298856 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516 		JBrowse link
G REN renin ISO mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) RGD PMID:22648117 RGD:6784503 NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420 		JBrowse link
G RETN resistin ISO DNA:SNP:promoter:-420C>G (human)
mRNA, protein:increased expression:subcutaneous adipose tissue, serum 		RGD PMID:11201732 PMID:17598818 PMID:22816026 RGD:7207072 RGD:7207155 RGD:7207158 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression:membrane, aorta, skeletal muscle RGD PMID:16267124 RGD:2298881 NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:skeletal muscle RGD PMID:15604215 RGD:1642978 NCBI chr16:33,498,098...33,556,553
Ensembl chr16:33,497,392...33,556,453 		JBrowse link
G RSC1A1 regulator of solute carriers 1 ISO OMIM:601665 MouseDO NCBI chr20:116,634,821...116,640,166 JBrowse link
G RSRC2 arginine and serine rich coiled-coil 2 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr11:117,841,254...117,866,683 JBrowse link
G RXRA retinoid X receptor alpha susceptibility ISO RGD PMID:15936932 RGD:1643104 NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Obesity disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr  X:22,231,915...22,234,981
Ensembl chr  X:22,231,855...22,235,031 		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 chr26:6,400,083...6,934,573 JBrowse link
G SDC1 syndecan 1 ISO mRNA:increased expression:liver RGD PMID:11522680 RGD:1643129 NCBI chr14:87,499,732...87,523,122
Ensembl chr14:87,499,574...87,525,026 		JBrowse link
G SDC3 syndecan 3 ISO ClinVar Annotator: match by term: Obesity, association with OMIM
ClinVar		 PMID:17018662
G SELP selectin P ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet RGD PMID:19228864 RGD:2312291 NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598 		JBrowse link
G SERPINA12 serpin family A member 12 treatment ISO RGD PMID:16030142 RGD:1547845 NCBI chr24:72,273,041...72,285,367
Ensembl chr24:72,273,186...72,285,157 		JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23819014 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:serum (rat) RGD PMID:17491674 PMID:24424059 RGD:2312347 RGD:8633067 NCBI chr16:1,408,453...1,424,197 JBrowse link
G SFTPB surfactant protein B ISO protein:increased expression:lung RGD PMID:15136884 RGD:4143472 NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850 		JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr 5:26,197,483...26,208,332
Ensembl chr 5:26,196,778...26,207,398 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO 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 PMID:2152513 PMID:16924270 PMID:19401419 PMID:21512513 PMID:23778136 More... NCBI chr13:73,451,838...73,527,733
Ensembl chr13:73,453,800...73,527,198 		JBrowse link
G SIRT1 sirtuin 1 treatment ISO CTD Direct Evidence: therapeutic
protein:decreased expression:ovary		 CTD
RGD		 PMID:24135502 PMID:24184811 PMID:24773342 RGD:9585762 RGD:9586064 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867 		JBrowse link
G SIRT3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21901160 PMID:23956348 RGD:9586047 NCBI chr 1:25,740...49,471
Ensembl chr 1:26,927...48,944 		JBrowse link
G SIRT6 sirtuin 6 ISO protein:decreased expression:ovary RGD PMID:24135502 RGD:9586064 NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590 		JBrowse link
G SLC10A1 solute carrier family 10 member 1 disease_progression ISO mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr24:47,018,237...47,034,360
Ensembl chr24:47,017,414...47,033,940 		JBrowse link
G SLC16A7 solute carrier family 16 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr11:55,541,313...55,709,102
Ensembl chr11:55,645,129...55,708,356 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20956498 NCBI chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27401566 NCBI chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27401566 NCBI chr13:87,971,305...88,076,468
Ensembl chr13:87,971,392...88,074,946 		JBrowse link
G SLC27A1 solute carrier family 27 member 1 susceptibility ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle
DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome		 RGD PMID:15281014 PMID:16611988 RGD:1642790 RGD:1642794 NCBI chr 6:15,967,126...15,995,039 JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr12:9,769,242...9,788,214 JBrowse link
G SLC2A1 solute carrier family 2 member 1 treatment ISO associated with Polycystic Ovary Syndrome RGD PMID:24842895 RGD:12879503 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 2:25,028,028...25,032,975
Ensembl chr 2:25,026,609...25,032,916 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO RGD PMID:11191352 RGD:1643191 NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 susceptibility ISO DNA:SNPs RGD PMID:15331564 RGD:1625271
G SLC6A3 solute carrier family 6 member 3 no_association
susceptibility		 ISO DNA:polymorphism RGD PMID:12490667 PMID:16674552 RGD:1625653 RGD:1625655 NCBI chr 4:1,209,013...1,258,797
Ensembl chr 4:1,209,019...1,258,866 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:9,943,162...10,044,476 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO OMIM:601665 MouseDO NCBI chr 2:27,857,093...27,944,487
Ensembl chr 2:27,858,319...27,944,496 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA, protein:increased expression:white fat RGD PMID:11027633 RGD:2298920 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA, protein:increased expression:white fat
DNA:SNP:utr (rs4969170) (human)
mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue
mRNA:decreased expression:subcutaneous adipose tissue		 RGD PMID:11027633 PMID:15331532 PMID:16920065 PMID:23900445 RGD:1625676 RGD:2298920 RGD:2313790 RGD:405650675 NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24042701 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317704 PMID:23956348 PMID:30738174 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SORBS1 sorbin and SH3 domain containing 1 ISO DNA:SNP: :p.T228A (human) RGD PMID:11532984 RGD:1642744 NCBI chr 9:88,475,783...88,729,912
Ensembl chr 9:88,472,946...88,729,851 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO mRNA:increased expression:adipose tissue RGD PMID:11294850 RGD:2300062 NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006 		JBrowse link
G SQLE squalene epoxidase ISO RGD PMID:15556298 RGD:1581399 NCBI chr 8:119,586,639...119,610,980
Ensembl chr 8:119,586,659...119,611,142 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:20098742 RGD:4891511 NCBI chr 4:6,312,770...6,348,449
Ensembl chr 4:6,312,757...6,350,550 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr16:16,847,603...16,874,239
Ensembl chr16:16,845,491...16,859,554 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO protein:increased expression:fat cell, nucleus RGD PMID:9786926 RGD:2308843 NCBI chr19:24,364,725...24,439,851
Ensembl chr19:24,364,911...24,440,014 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:decreased phosphorylation:hypothalamus
DNA:SNP:rs4796793 (human)		 RGD PMID:23397595 PMID:23900445 RGD:10411893 RGD:405650675 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 treatment ISO RGD PMID:20978234 RGD:5509594 NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928 		JBrowse link
G STK11 serine/threonine kinase 11 ISO protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136 		JBrowse link
G STS steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:5,601,746...5,813,916
Ensembl chr  X:5,709,410...5,812,224 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 3:25,889,687...25,951,641 JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr22:28,382,612...28,677,749
Ensembl chr22:28,381,787...28,677,742 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr20:89,360,859...89,422,554 JBrowse link
G TBC1D1 TBC1 domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16893906 PMID:18325908 PMID:18931681 NCBI chr27:12,158,582...12,398,414
Ensembl chr27:12,156,227...12,386,980 		JBrowse link
G TBX3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Obesity disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr11:109,952,100...109,966,328
Ensembl chr11:109,952,054...109,965,065 		JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16267817 PMID:20882379 RGD:1601520 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149 		JBrowse link
G TFAM transcription factor A, mitochondrial treatment ISO mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:21862610 PMID:33310031 RGD:329955450 RGD:5683906 NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062801 PMID:20882379 NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO associated with hypertension;protein:increased expression:blood
protein:increased expression:adipose tissue
protein:increased expression:platelet		 RGD PMID:15944724 PMID:16253647 PMID:16477387 RGD:1601561 RGD:1601563 RGD:1601579 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TH tyrosine hydroxylase resistance ISO DNA:polymorphism:intron:g.1170_1173dupTCAT (human) RGD PMID:16251897 RGD:1601632 NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
G THBD thrombomodulin severity ISO protein:increased expression:plasma RGD PMID:16651309 RGD:1601640 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626 		JBrowse link
G THBS1 thrombospondin 1 ISO mRNA,protein:increased expression:mononuclear cell, adipose tissue: RGD PMID:24086512 RGD:9681453 NCBI chr26:43,410,693...43,427,816
Ensembl chr26:43,410,580...43,427,812 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:plasma RGD PMID:17512313 RGD:1642026
G TLR2 toll like receptor 2 ISO RGD PMID:18787058 RGD:2312681 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO RGD PMID:17053832 PMID:19144836 RGD:1620653 RGD:2312510 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TMEM18 transmembrane protein 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr14:107,078,816...107,087,064
Ensembl chr14:107,079,209...107,089,308 		JBrowse link
G TNF tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9502777 PMID:11328671 PMID:20141834 PMID:24146106 PMID:28843383 More... RGD:10450599 RGD:14975146
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:12935365 RGD:1624179 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11782876 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17347480 NCBI chr16:3,071,158...3,091,068
Ensembl chr16:3,071,526...3,090,330 		JBrowse link
G TSC1 TSC complex subunit 1 ISO DNA:hypermethylation:promoter RGD PMID:25807795 RGD:11570513 NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157 		JBrowse link
G TUB TUB bipartite transcription factor susceptibility
no_association		 ISO DNA:splice-site mutation
OMIM:601665		 RGD
MouseDO		 PMID:8612280 PMID:8772727 RGD:1625564 RGD:1625565 NCBI chr 1:56,699,044...56,764,162
Ensembl chr 1:56,699,408...56,783,126 		JBrowse link
G TYK2 tyrosine kinase 2 ISO OMIM:601665 MouseDO NCBI chr 6:9,399,945...9,420,054
Ensembl chr 6:9,399,775...9,417,630 		JBrowse link
G UCN urocortin treatment ISO RGD PMID:17932219 RGD:1642774 NCBI chr14:80,303,210...80,304,910
Ensembl chr14:80,304,416...80,304,790 		JBrowse link
G UCP1 uncoupling protein 1 no_association ISO CTD Direct Evidence: marker/mechanism|therapeutic
DNA:polymorphism: :-3826A>G (human)		 CTD
RGD		 PMID:8968850 PMID:15592485 RGD:1624977 NCBI chr 7:87,492,444...87,502,894
Ensembl chr 7:87,492,195...87,502,665 		JBrowse link
G UCP2 uncoupling protein 2 susceptibility ISO DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)		 RGD
CTD		 PMID:11381268 PMID:17870627 RGD:2313512 RGD:737761 NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450 		JBrowse link
G UCP3 uncoupling protein 3 susceptibility
no_association		 ISO ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A | ClinVar Annotator: match by term: UCP3-related condition
DNA:polymorphism:promoter:-55C>T (human)
DNA:polymorphism:exon (human)		 OMIM
ClinVar
RGD		 PMID:9700198 PMID:9769326 PMID:10618503 PMID:18249216 PMID:21544083 More... RGD:2313506 RGD:2313526 NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807 		JBrowse link
G ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr22:2,731,174...3,398,885
Ensembl chr22:2,731,308...3,398,912 		JBrowse link
G UQCR2 ubiquinol-cytochrome c reductase core protein II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 5:19,622,884...19,653,667
Ensembl chr 5:19,623,410...19,653,479 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19260948 RGD:2312763 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		JBrowse link
G VGF VGF nerve growth factor inducible ISO CTD Direct Evidence: therapeutic CTD PMID:12177191 NCBI chr28:12,016,216...12,021,151
Ensembl chr28:12,018,800...12,020,647 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO associated with hepatocellular carcinoma;RNA:decreased expression:liver: RGD PMID:31321740 RGD:155882550 NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G VLDLR very low density lipoprotein receptor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11557677 PMID:20975297 RGD:1625568 NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584 		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:1625710 RGD:1625711 NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260 		JBrowse link
G WNT10B Wnt family member 10B ISO DNA:SNP:CDS:amino acid C256Y, mutant unable to activate WNT/beta-catenin signaling pathway RGD PMID:16477437 PMID:17578883 RGD:2300029 RGD:2326237 NCBI chr11:45,205,728...45,229,050
Ensembl chr11:45,205,566...45,210,893 		JBrowse link
G WNT3A Wnt family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr25:1,664,316...1,675,006
Ensembl chr25:1,666,053...1,719,881 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO RGD PMID:7616299 RGD:13210504 NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936 		JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr20:8,812,514...8,829,128
Ensembl chr20:8,812,351...8,817,286 		JBrowse link
G ZC3H10 zinc finger CCCH-type containing 10 ISO CTD Direct Evidence: therapeutic CTD PMID:31775033 NCBI chr11:52,057,090...52,062,998
Ensembl chr11:52,061,065...52,062,369 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112 		JBrowse link
G ZFR2 zinc finger RNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 6:3,560,845...3,626,581
Ensembl chr 6:3,560,961...3,591,183 		JBrowse link
G ZNF169 zinc finger protein 169 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:104,586,491...104,626,236 JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 5:74,583,488...74,595,533
Ensembl chr 5:74,589,788...74,595,135 		JBrowse link
Obesity and Hypopigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO ClinVar Annotator: match by term: Obesity and hypopigmentation ClinVar PMID:36536132 NCBI chr 2:38,579,254...38,601,218
Ensembl chr 2:38,579,024...38,601,208 		JBrowse link
G ASIP agouti signaling protein ISO ClinVar Annotator: match by term: Obesity and hypopigmentation ClinVar PMID:36536132 NCBI chr 2:38,479,328...38,568,756 JBrowse link
G ITCH itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Obesity and hypopigmentation ClinVar PMID:36536132 NCBI chr 2:38,671,170...38,808,621
Ensembl chr 2:38,701,396...38,805,005 		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 ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay OMIM
ClinVar		 PMID:15494731 PMID:25741868 PMID:27884935 PMID:28492532 PMID:29100083 NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr 7:36,201,916...36,216,446 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 ISO mRNA:decreased expression:renal artery (rat) RGD PMID:28958692 RGD:13450942 NCBI chr21:119,174,829...119,196,840 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 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G APOA5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25137265 NCBI chr 1:108,154,880...108,158,998
Ensembl chr 1:108,155,641...108,157,375 		JBrowse link
G CETP cholesteryl ester transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25137265 NCBI chr 5:42,909,994...42,936,277
Ensembl chr 5:42,910,226...42,936,277 		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 chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr10:2,564,156...2,571,442 JBrowse link
G RBP4 retinol binding protein 4 ISO protein:increased expression:blood plasma (human) RGD PMID:25356519 RGD:329853302 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		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:167441 PMID:4434116 RGD:11049584 RGD:11049587 NCBI chr 1:13,833,762...13,849,727
Ensembl chr 1:13,834,330...13,849,516 		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 ISO protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:15355967 RGD:7243096 NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA, protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:17804457 RGD:8554499 NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		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 chr26:56,230,006...56,416,398
Ensembl chr26:56,230,723...56,417,052 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:55,147,512...55,227,801
Ensembl chr26:55,147,511...55,227,297 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:54,570,497...55,126,712 JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:15057669 RGD:12905043 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G HCRT hypocretin neuropeptide precursor ISO protein:decreased expression:cerebrospinal fluid RGD PMID:15613151 RGD:1600935 NCBI chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28631899 NCBI chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489 		JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO OMIM:176270 MouseDO NCBI chr  X:102,190,355...102,499,928
Ensembl chr  X:102,325,731...102,497,278 		JBrowse link
G MAGEL2 MAGE family member L2 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:27195816 PMID:28281571 PMID:28492532 PMID:28631899 NCBI chr26:57,975,936...57,980,492 JBrowse link
G MKRN3 makorin ring finger protein 3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:58,056,674...58,059,921
Ensembl chr26:58,057,374...58,058,897 		JBrowse link
G NDN necdin, MAGE family member ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:28631899 NCBI chr26:57,939,212...57,940,868
Ensembl chr26:57,939,330...57,940,295 		JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28631899 NCBI chr26:57,306,094...57,311,033
Ensembl chr26:57,306,809...57,310,288 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N susceptibility ISO DNA:deletion
ClinVar Annotator: match by term: Prader-Willi syndrome		 RGD
ClinVar		 PMID:8723064 PMID:28631899 RGD:1601354 NCBI chr26:57,087,556...57,198,464
Ensembl chr26:57,087,695...57,091,671 		JBrowse link
G SNURF SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:57,087,558...57,111,378 JBrowse link
G UBE3A ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:56,638,936...56,738,555
Ensembl chr26:56,666,162...56,736,737 		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 ClinVar Annotator: match by term: Primary hypomagnesemia ClinVar PMID:668721 PMID:10390358 PMID:10878661 PMID:10995564 PMID:11518780 More... NCBI chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr 9:95,956,224...96,130,714
Ensembl chr 9:95,955,654...96,122,976 		JBrowse link
G EGF epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 1:109,187,301...109,199,729
Ensembl chr 1:109,186,886...109,198,267 		JBrowse link
Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin susceptibility ISO 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 ClinVar
OMIM		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		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 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 susceptibility 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
OMIM		 PMID:9207799 PMID:14617756 PMID:17595246 PMID:22210313 PMID:23383060 More... NCBI chr 4:90,246,413...90,289,148
Ensembl chr 4:90,248,598...90,289,089 		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 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865262 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G INSR insulin receptor treatment ISO RGD PMID:19880292 RGD:4107735 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16214328 NCBI chr 2:60,461,219...60,472,999 JBrowse link
protein-energy malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO protein:decreased expression:serum: RGD PMID:9235366 RGD:11036082 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407 		JBrowse link
G BTG1 BTG anti-proliferation factor 1 ISO mRNA:increased expression:liver RGD PMID:11952159 RGD:631316 NCBI chr11:87,553,779...87,556,535
Ensembl chr11:87,554,731...87,556,542 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO mRNA:decreased expression:ovary (rat) RGD PMID:20018485 RGD:4890381 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:plasma (rat) RGD PMID:7666262 RGD:2308792 NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921 		JBrowse link
G LOC103233412 cytochrome c oxidase subunit 4 isoform 1, mitochondrial ISO mRNA:increased expression:skeletal muscle RGD PMID:18725894 RGD:2301376 NCBI chr 5:71,207,509...71,214,976
Ensembl chr 5:71,206,941...71,215,034 		JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO RGD PMID:11575573 RGD:1598897 NCBI chr 2:38,579,254...38,601,218
Ensembl chr 2:38,579,024...38,601,208 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103246914 FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577 		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 9:95,956,224...96,130,714
Ensembl chr 9:95,955,654...96,122,976 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2 OMIM
ClinVar		 PMID:3298795 PMID:9536098 PMID:11062458 PMID:11929868 PMID:12763860 More... NCBI chr 1:109,187,301...109,199,729
Ensembl chr 1:109,186,886...109,198,267 		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 ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660 		JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr20:90,189,553...90,197,324 JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		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 chr20:90,189,553...90,197,324 JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 More... NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		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 chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660 		JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement OMIM
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr20:90,189,553...90,197,324 JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		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 ClinVar Annotator: match by term: Renal hypomagnesemia 6 OMIM
ClinVar		 PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 9:95,956,224...96,130,714
Ensembl chr 9:95,955,654...96,122,976 		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 chr13:14,129,167...14,167,066
Ensembl chr13:14,132,224...14,166,730 		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 1:51,327,555...51,330,810 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 1:56,632,448...56,691,964
Ensembl chr 1:56,631,898...56,690,207 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 More... NCBI chr 1:56,699,044...56,764,162
Ensembl chr 1:56,699,408...56,783,126 		JBrowse link
riboflavin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A1 solute carrier family 52 member 1 ISO ClinVar Annotator: match by term: Ariboflavinosis | ClinVar Annotator: match by term: Maternal riboflavin deficiency | ClinVar Annotator: match by term: Riboflavin deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17689999 PMID:21089064 PMID:23506902 More... NCBI chr16:4,514,392...4,517,527
Ensembl chr16:4,514,732...4,516,378 		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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S		 CTD
MouseDO
RGD		 PMID:9486994 PMID:11416220 PMID:16494812 RGD:1600874 RGD:734871 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G LOC103246914 FAM20C golgi associated secretory pathway kinase ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577 		JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256 		JBrowse link
G VDR vitamin D receptor ISO VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:1338926 PMID:2849209 PMID:17451081 PMID:22466564 RGD:1624354 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 chr26:53,562,105...53,673,544
Ensembl chr26:53,595,767...53,672,977 		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 chr26:57,975,936...57,980,492 JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chr13:73,451,838...73,527,733
Ensembl chr13:73,453,800...73,527,198 		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:27005418 PMID:28492532 More... NCBI chr14:98,806,935...98,920,706
Ensembl chr14:98,806,939...98,915,437 		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 ISO mRNA:increased expression:liver RGD PMID:15811777 RGD:1625742 NCBI chr 7:130,712,633...130,783,360
Ensembl chr 7:130,712,308...130,763,756 		JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:stomach RGD PMID:17335899 RGD:1625307 NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686 		JBrowse link
G GIP gastric inhibitory polypeptide ISO protein:increased expression:duodenum, jejunum (rat) RGD PMID:6140913 RGD:2312554 NCBI chr16:69,367,030...69,377,563
Ensembl chr16:69,367,207...69,377,155 		JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr 5:72,762,428...72,774,204
Ensembl chr 5:72,763,050...72,772,770 		JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO RGD PMID:17335899 RGD:1625307 NCBI chr16:63,526,915...63,529,697
Ensembl chr16:63,526,305...63,528,767 		JBrowse link
G SI sucrase-isomaltase ISO RGD PMID:10864000 RGD:1625548 NCBI chr15:24,480,060...24,582,468
Ensembl chr15:24,482,865...24,582,394 		JBrowse link
G SQSTM1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr23:81,536,271...81,571,061
Ensembl chr23:81,558,082...81,574,830 		JBrowse link
G TDO2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7306070 NCBI chr 7:102,467,075...102,485,434
Ensembl chr 7:102,467,640...102,485,394 		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 ISO RGD PMID:16716410 RGD:2313422 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410 RGD:2313422 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		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 chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500 		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 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
ClinVar		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr25:59,568,801...59,587,398
Ensembl chr25:59,568,893...59,585,094 		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 OMIM
ClinVar		 PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 More... NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810 		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 chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 treatment ISO RGD PMID:11724755 RGD:13782260 NCBI chr 9:88,082,124...88,125,390 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 8:138,531,113...138,541,721
Ensembl chr 8:138,531,384...138,541,637 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr26:4,842,328...4,905,941
Ensembl chr26:4,842,122...4,905,964 		JBrowse link
G LOC103216270 cytochrome P450 26A1 treatment ISO RGD PMID:22554462 PMID:25451926 RGD:13782197 RGD:13782256 NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 7:101,297,114...101,304,675
Ensembl chr 7:101,297,691...101,302,520 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr25:3,350,798...3,405,040 JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G TGM1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		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 and serine--pyruvate aminotransferase ISO RGD PMID:12544342 RGD:1599455 NCBI chr10:126,933,711...126,943,980
Ensembl chr10:126,933,835...126,944,354 		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 chr24:51,497,440...51,516,919
Ensembl chr24:51,495,790...51,516,905 		JBrowse link
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Vitamin B12 deficiency ClinVar PMID:25741868 NCBI chr24:80,884,149...80,895,977
Ensembl chr24:80,883,911...80,893,066 		JBrowse link
G CALR calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:11115425 RGD:401827848 NCBI chr23:53,576,950...53,585,321 JBrowse link
G LOC103221104 cystathionine beta-synthase ISO protein:decreased expression:liver (rat) RGD PMID:2732804 RGD:40903037 NCBI chr 2:86,905,104...86,933,780 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		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 ISO RGD PMID:3105848 RGD:6483561 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO DNA:SNP:CDS: rs12794714|rs10766197 (human)
DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)
DNA:SNP:CDS:rs12794714 (human)		 RGD PMID:29804528 PMID:31814925 PMID:34906413 RGD:401900724 RGD:401901167 RGD:401901168 NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO DNA:SNP:CDS:rs12785878 (human) RGD PMID:31814925 RGD:401901168 NCBI chr 1:3,243,263...3,257,332
Ensembl chr 1:3,243,313...3,257,487 		JBrowse link
G GC GC vitamin D binding protein ISO DNA:SNP:CDS:rs2282679) (human) RGD PMID:31814925 RGD:401901168 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr10:54,672,876...54,889,374
Ensembl chr10:54,711,517...54,889,208 		JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 1:3,189,054...3,243,087
Ensembl chr 1:3,188,348...3,238,435 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 ISO RGD PMID:28365874 RGD:124713570 NCBI chr10:41,715,092...41,724,411
Ensembl chr10:41,715,086...41,723,685 		JBrowse link
G RETN resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 member 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 member 1 treatment ISO 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 OMIM
ClinVar
RGD		 PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G PDE3B phosphodiesterase 3B ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:50,050,168...50,254,797
Ensembl chr 1:50,047,477...50,254,807 		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 member 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 OMIM
ClinVar		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G PDE3B phosphodiesterase 3B ISO ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr 1:50,050,168...50,254,797
Ensembl chr 1:50,047,477...50,254,807 		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 chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		JBrowse link
G VDR vitamin D receptor treatment ISO 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 OMIM
ClinVar
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:13432060 RGD:32716373 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103246766 cytochrome P450 3A8 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar		 PMID:29461981 NCBI chr28:13,297,566...13,330,023 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 member 2 treatment ISO associated with nitrate tolerance RGD PMID:16520233 RGD:401900296 NCBI chr26:8,727,996...8,733,254 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		JBrowse link
G TTPA alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 8:58,952,685...58,979,083
Ensembl chr 8:58,950,626...58,978,258 		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 chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		JBrowse link
G GGCX gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr14:21,593,202...21,605,800
Ensembl chr14:21,593,088...21,604,885 		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 ISO RGD PMID:8229066 RGD:405100718 NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G TKT transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr22:14,620,340...14,650,694
Ensembl chr22:14,620,287...14,650,655 		JBrowse link
Wernicke-Korsakoff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin ISO protein:increased expression:mammillary body RGD PMID:1650797 RGD:407572523 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		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:62,154,374...62,393,149
Ensembl chr  X:62,154,365...62,393,196 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: Wilson-Turner syndrome OMIM
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:55,503,201...55,524,995
Ensembl chr  X:55,503,109...55,525,026 		JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:55,152,447...55,498,218 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 chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		JBrowse link
G CBLL2 Cbl proto-oncogene like 2 ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:19513579 PMID:25741868 NCBI chr  X:20,753,643...20,755,878 JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 More... NCBI chr  X:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		JBrowse link
G LOC103246914 FAM20C golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO 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
ClinVar		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... NCBI chr  X:20,507,619...20,733,367
Ensembl chr  X:20,522,498...20,734,599 		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:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		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 ISO mRNA:decreased expression:liver (rat) RGD PMID:20404036 RGD:12904966 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO mRNA:increased expression:lung, kidney (rat) RGD PMID:20859692 RGD:11553849 NCBI chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15342
    Nutritional and Metabolic Diseases 7357
      nutrition disease 802
        Child Nutrition Disorders 0
        Infant Nutrition Disorders + 2
        Malnutrition + 253
        Wasting Syndrome + 4
        overnutrition + 593
Path 2
Term Annotations click to browse term
  disease 15342
    Nutritional and Metabolic Diseases 7357
      disease of metabolism 7357
        acquired metabolic disease 2205
          nutrition disease 802
            Child Nutrition Disorders 0
            Infant Nutrition Disorders + 2
            Malnutrition + 253
            Wasting Syndrome + 4
            overnutrition + 593
paths to the root