Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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



show annotations for term's descendants           Sort by:
nutrition disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hap1 huntingtin-associated protein 1 ISO RGD PMID:11971876 RGD:1302538 NCBI chr10:85,778,267...85,786,553 JBrowse link
G Tfrc transferrin receptor IEP protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chr11:81,668,478...81,690,318 JBrowse link
Abdominal Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr 4:157,085,080...157,118,470 JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO DNA:SNP:CDS: rs12794714 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:168,749,302...168,798,079 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr13:104,728,539...104,798,884 JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctf1 cardiotrophin 1 ISS MouseDO NCBI chr 1:182,328,035...182,336,346 JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:171,299,715...171,380,296 JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:58,626,529...58,640,663 JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:57,550,142...57,556,884 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:118,712,261...118,780,723 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS MouseDO NCBI chr 4:150,095,743...150,221,104 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:63,073,505...63,729,215 JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:114,250,398...114,310,784 JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:195,942,066...195,964,472 JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISS MouseDO NCBI chr14:76,540,649...76,674,277 JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:34,072,710...34,122,142 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:105,076,472...105,081,906 JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:23,204,464...23,366,900 JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:209,169,245...209,175,423 JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:241,212,155...241,245,774 JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:58,626,529...58,640,663 JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:25,596,205...25,621,928 JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 2:226,613,090...226,654,239 JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:171,499,189...171,504,831 JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:29,051,267...29,069,486 JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 5:145,228,228...145,294,170 JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 More... NCBI chr 1:92,606,743...92,624,089 JBrowse link
abdominal obesity-metabolic syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:31358993 NCBI chr 5:154,126,879...154,136,630 JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO
ISS
DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Acrodermatitis enteropathica zinc deficiency type | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:110,214,017...110,218,202 JBrowse link
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 4:5,889,999...5,894,575 JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO
ISS
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
OMIM:193100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
DNA:missense mutation:cds:526C>T,p.R176W (human)
MouseDO
CTD
ClinVar
OMIM
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:161,600,439...161,609,991 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:41,422,561...41,671,226 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 ISS
ISO
OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr14:5,833,111...5,867,154 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:22,518,051...22,583,044 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 chr 5:68,647,166...68,656,137 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:9232193 PMID:9375914 More... NCBI chr16:6,869,448...6,900,711 JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ISS
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders | ClinVar Annotator: match by term: PHF6-related condition
OMIM:301900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 More... NCBI chr  X:137,576,214...137,619,297 JBrowse link
choline deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 IEP
IDA
mRNA:increased expression:liver:
DNA:hypermethylation:liver:
RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr 8:19,440,611...19,486,659 JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:10,614,591...10,628,989 JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP
IDA
mRNA:increased expression:liver:
DNA:hypermethylation:liver:
RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr18:66,449,196...66,516,112 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 chr10:37,998,319...38,080,580 JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 9:85,916,691...86,043,312 JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,647,202...67,668,180 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,719,326...71,757,191 JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,654,773...69,681,578 JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,918,998...69,992,289 JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,129,265...67,142,001 JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,122,474...70,132,756 JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,160,983...70,196,142 JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,807,455...70,822,067 JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,822,648...70,929,255 JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,333,161...67,346,751 JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,055,012...70,086,781 JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,400,287...68,530,269 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 7:66,022,352...66,028,422 JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,352,612...71,358,680 JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,941,068...71,012,409 JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,861,955...66,862,027 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171 JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,532,671...68,964,740 JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,774,477...65,884,807 JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,377,427...69,389,662 JBrowse link
G Osr2 odd-skipped related transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,487,841...66,495,003 JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,777,438...67,789,731 JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,347,118...67,359,466 JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,705,348...65,733,143 JBrowse link
G Rgs22 regulator of G-protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,188,531...67,308,805 JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,248,104...70,759,134 JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,425,833...67,465,214 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,962,008...70,993,726 JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,142,958...70,160,726 JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,676,514...67,776,925 JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:67,361,474...67,421,369 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 7:67,938,341...68,208,472 JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,115,216...69,224,843 JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429 JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,826,404...69,848,702 JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,167,496...68,174,121 JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,678,658...72,116,209 JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... RGD:11049582 NCBI chr 1:208,605,983...208,620,231 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 chr 4:58,626,529...58,640,663 JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency ClinVar PMID:25741868 NCBI chr 5:121,409,735...121,593,201 JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO
ISS
OMIM:219500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency
OMIM
MouseDO
CTD
ClinVar
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 2:249,634,731...249,661,066 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 chr 8:83,731,512...83,748,289 JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 More... NCBI chr 8:83,776,802...83,891,192 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:17,857,260...18,011,844 JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:41,422,561...41,671,226 JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359 JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792 JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:130,864,764...130,916,757 JBrowse link
familial isolated deficiency of vitamin E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:36,563,704...36,603,300 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO
ISS
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency | ClinVar Annotator: match by term: TTPA-related condition
OMIM:277460
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3442652 PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 More... NCBI chr 5:33,497,537...33,518,936 JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain IEP associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr10:80,380,458...80,397,461 JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 4:33,518,557...33,553,484 JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:8,615,239...8,681,372 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin IEP associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 1:85,720,812...85,749,079 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin IEP associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr13:68,448,720...68,461,312 JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 IEP associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 3:29,214,581...29,344,890 JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 2:25,320,895...25,346,004 JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:24,169,608...24,249,446 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 Annotator: match by term: Hereditary Folate Malabsorption | ClinVar Annotator: match by term: SLC46A1-related condition ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr10:63,867,503...63,890,872 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 | ClinVar Annotator: match by term: SLC46A1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,361,504...63,367,940 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 1:176,942,901...176,946,034 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO
RGD
PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,224,010...9,238,983 JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:28,442,455...28,447,997 JBrowse link
HIV Wasting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:3,626,685...3,629,303 JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,128,056...9,184,312 JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,222,569...11,350,854 JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,330,960...10,415,358 JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,635,775...10,650,709 JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,853...12,187,271 JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,225,321...37,289,741 JBrowse link
G Cbs cystathionine beta synthase ISO
ISS
DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: CBS-related condition | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE | 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:236200 | OMIM:236250
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623 JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,687,863...10,694,736 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,474,104...11,582,593 JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,905,690...11,924,111 JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,021,676...12,049,425 JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,783,605...9,787,351 JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,245,462...10,247,505 JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,614,591...10,628,989 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,055,203...12,068,717 JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,514,459...10,522,556 JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,035,562...10,123,059 JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,600,420...10,610,718 JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,061,009...11,097,242 JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,880,524...10,881,445 JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,871,991...10,872,927 JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,939,609...10,940,526 JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,758,919...10,763,736 JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,090,641...12,118,230 JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,127,570...12,165,165 JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 5:130,166,056...130,172,735 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr17:62,911,705...62,996,544 JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 More... RGD:5508189 NCBI chr 1:34,866,991...34,899,425 JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,613,786...9,622,941 JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,678,218...11,878,210 JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,190,597...12,278,723 JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,469,809...9,562,949 JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,663,907...10,685,967 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 9:30,040,466...30,533,834 JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,662,866...9,705,030 JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,367,073...11,377,788 JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,164,608...37,225,172 JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,030,013...11,047,742 JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,499,332...10,512,965 JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:50,591,926...50,614,169 JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,260,892...10,272,141 JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,122,825...10,148,404 JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,341,910...9,360,640 JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,947,104...9,958,729 JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,584,410...11,602,429 JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,360,501...9,433,895 JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,114,632...11,147,532 JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,074,040...12,083,873 JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,009,730...11,020,502 JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,235,736...9,239,597 JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,217,110...9,220,979 JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,193,259...9,197,969 JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,254,102...9,273,808 JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,438,404...10,498,740 JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,703,568...10,753,189 JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,771,806...10,837,419 JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,742,904...9,753,840 JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,291,471...9,334,685 JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,983,734...11,005,468 JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,027,751...9,087,133 JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,587,205...9,611,434 JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,192...12,174,713 JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,312,337...37,327,040 JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr20:9,708,089...9,732,623 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-MEGALOBLASTIC ANEMIA, cblD TYPE ClinVar
OMIM
PMID:15292234 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:34,708,649...34,726,554 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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
CTD
OMIM
ClinVar
PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 1:34,866,991...34,899,425 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 chr17:62,911,705...62,996,544 JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chr 1:34,866,991...34,899,425 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: BCO1-related condition | ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5453458 PMID:17951468 PMID:25741868 PMID:28492532 NCBI chr19:45,149,250...45,186,102 JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:69,426,540...69,447,017 JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:164,029,338...164,044,562 JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:88,481,889...88,485,816 JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:191,709,311...191,737,414 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:84,729,597...84,754,544 JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:160,607,289...160,699,760 JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:10,746,338...10,882,295 JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISO
ISS
mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
OMIM:603174
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr20:9,708,089...9,732,623 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:67,503,077...67,504,875 JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 2:249,634,731...249,661,066 JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,477,542...17,479,321 JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,571,900...17,573,624 JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,310,790...17,312,250 JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:84,299,626...84,307,344 JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A IEP protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr11:47,360,824...47,479,033 JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:155,361,031...155,462,723 JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:47,137,360...47,207,961 JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:83,170,973...83,190,280 JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,212,819...9,220,664 JBrowse link
G F2 coagulation factor II, thrombin treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:98,051,958...98,065,246 JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:140,848...172,330 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:157,352,364...157,372,144 JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:14,254,675...14,258,028 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:117,905,462...117,906,588 JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:41,710,540...42,030,105 JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:6,136,458...6,560,003 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:170,297,811...170,775,420 JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:27,829,688...27,841,618 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:174,103,474...174,111,434 JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 5:163,748,346...163,768,141 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:62,911,705...62,996,544 JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:34,866,991...34,899,425 JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:192,589,580...192,642,971 JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:163,699,955...163,701,314 JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:34,261,312...34,292,327 JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:192,032,124...192,033,419 JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:63,361,504...63,367,940 JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:50,043,323...50,050,168 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:3,766,509...3,772,578 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:3,626,685...3,629,303 JBrowse link
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:17,857,260...18,011,844 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 chr14:5,833,111...5,867,154 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:22,518,051...22,583,044 JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:20,940,654...20,999,072 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD
PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr 4:161,600,439...161,609,991 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:205,712,625...205,729,406 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:196,299,843...196,315,170 JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | 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:41,422,561...41,671,226 JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359 JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792 JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:130,864,764...130,916,757 JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 8:83,718,897...83,902,128 JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr14:5,833,111...5,867,154 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)
OMIM
ClinVar
CTD
RGD
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 1:22,518,051...22,583,044 JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:136,132,567...136,140,008 JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:82,473,097...82,818,564 JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259 JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133 JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,081,508...77,106,114 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,353,761...77,440,384 JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,740,755...76,884,178 JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,120,235...77,166,173 JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:136,025,097...136,128,363 JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,601,966...76,646,104 JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:81,577,261...81,585,746 JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:136,132,567...136,140,008 JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231 JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259 JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133 JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type
ClinVar
OMIM
RGD
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:11071839 NCBI chr 6:136,132,567...136,140,008 JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259 JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition
OMIM
CTD
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:225,559,528...225,747,106 JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr 3:134,499,617...134,588,113 JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:37,506,207...37,724,351 JBrowse link
G Atp7a ATPase copper transporting alpha severity ISO
IEP
mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)
RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:75,159,635...75,267,094 JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:154,417,086...154,419,933 JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:87,694,062...87,695,978 JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:136,336,923...136,340,796 JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:80,645,507...80,714,200 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP
ISO
associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 8:117,905,462...117,906,588 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:65,185,574...65,228,742 JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP
mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:95,298,332...95,300,271 JBrowse link
G Hfe homeostatic iron regulator ISO associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr17:41,841,302...41,849,359 JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:54,449,151...54,453,701 JBrowse link
G Il6 interleukin 6 IEP associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)
RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 8:64,124,152...64,207,702 JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:46,520,345...46,621,487 JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:212,325,089...212,332,640 JBrowse link
G Mb myoglobin IEP protein:decreased expression:skeletal muscle RGD PMID:956378 RGD:488078620 NCBI chr 7:110,640,511...110,647,742 JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:34,261,312...34,292,327 JBrowse link
G Slc11a2 solute carrier family 11 member 2 IEP
ISO
protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr 7:131,503,076...131,540,246 JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr10:87,807,010...87,823,274 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:42,942,742...42,948,399 JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia
ClinVar
RGD
PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 More... RGD:1601513 NCBI chr 8:103,789,780...103,816,487 JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
CTD
RGD
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:81,668,478...81,690,318 JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 7:109,991,008...110,021,626 JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:3,626,685...3,629,303 JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:235,893,917...235,901,315 JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:66,991,940...66,998,014 JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:247,879,058...247,916,804 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 8:117,905,462...117,906,588 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 chr 5:121,409,735...121,593,201 JBrowse link
G Leprot leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:116,289,843...116,301,951 JBrowse link
Malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr20:9,708,089...9,732,623 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 5:163,748,346...163,768,141 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr17:62,911,705...62,996,544 JBrowse link
G Nefl neurofilament light chain IEP protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr15:46,477,330...46,481,203 JBrowse link
G Nefm neurofilament medium chain IEP protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr15:46,535,857...46,541,161 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: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:58,916,513...58,939,923 JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:163,770,495...163,788,791 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:163,748,346...163,768,141 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 PMID:31905202 NCBI chr19:50,644,548...50,651,048 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:157,159,051...157,185,559 JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM:309541
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:156,839,100...156,864,132 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:156,919,927...156,929,825 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:156,932,481...156,995,981 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:156,807,378...156,812,632 JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716 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:156,812,785...156,821,860 JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988 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 PMID:31905202 NCBI chr19:50,656,839...50,658,656 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:157,105,455...157,138,510 JBrowse link
Methylmalonic Aciduria and Homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 5:130,166,056...130,172,735 JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,246,459...104,260,965 JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040 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:156,839,100...156,864,132 JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 More... NCBI chr 9:27,096,387...27,178,095 JBrowse link
G Mmachc metabolism of cobalamin associated C ISO
ISS
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735 JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:34,708,649...34,726,554 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 with homocystinuria cblC type | ClinVar Annotator: match by term: PRDX1-related condition | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 More... NCBI chr 5:135,383,906...135,399,504 JBrowse link
G Thap11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr19:50,656,839...50,658,656 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 Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16311595 PMID:16714133 PMID:17431913 PMID:19370762 PMID:19760748 More... NCBI chr 5:130,166,056...130,172,735 JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2339678 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 More... NCBI chr 3:34,708,649...34,726,554 JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,540,479...101,549,022 JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,673,916...27,022,139 JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,585,034...26,668,222 JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 9:27,096,387...27,178,095 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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
CTD
OMIM
ClinVar
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:62,911,705...62,996,544 JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chr 1:34,866,991...34,899,425 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 chr 6:104,246,459...104,260,965 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 PMID:31905202 NCBI chr19:50,644,548...50,651,048 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 PMID:31905202 NCBI chr19:50,656,839...50,658,656 JBrowse link
morbid obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:22384010 RGD:13831306 NCBI chr 3:144,003,808...144,047,452 JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr 6:32,819,602...32,923,174 JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chr20:4,152,758...4,155,956 JBrowse link
G Apln apelin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:19756893 PMID:15970339 RGD:2313938, RGD:1600932 NCBI chr  X:132,058,739...132,091,518 JBrowse link
G Aqp7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr 5:56,171,649...56,186,642 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr 8:59,731,912...59,765,408 JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 3:116,619,633...116,670,212 JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:121,153,499...121,160,194 JBrowse link
G Cpe carboxypeptidase E ISO mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects RGD PMID:12530526 RGD:1626182 NCBI chr16:25,030,276...25,142,231 JBrowse link
G Ctnnbl1 catenin, beta like 1 susceptibility
no_association
ISO DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) RGD PMID:19245693 PMID:19228371 RGD:9850251, RGD:9850253 NCBI chr 3:166,807,899...166,968,932 JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:12883487 RGD:1626305 NCBI chr 1:205,269,967...205,280,365 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chr 4:146,865,712...146,869,621 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr 6:98,357,788...98,405,068 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr 3:27,509,836...27,525,738 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr15:302,480...1,007,675 JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:44,462,579...44,848,555 JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 NCBI chr 4:58,626,529...58,640,663 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 5:121,409,735...121,593,201 JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 6:45,039,110...45,145,845 JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29273807 PMID:29311635 PMID:11443223 PMID:12588803 RGD:1600755, RGD:1600750 NCBI chr18:62,689,798...62,691,685 JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr 7:112,761,554...112,764,746 JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr 5:163,699,955...163,701,314 JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:15855352 RGD:1642381 NCBI chr 2:167,901,999...167,912,165 JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 onset ISO RGD PMID:16702999 RGD:1626135 NCBI chr17:5,560,558...5,875,899 JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 2:4,395,543...4,442,434 JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr 6:32,659,137...32,665,175 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Morbid obesity ClinVar PMID:9753710 PMID:10690291 PMID:25157153 PMID:28492532 NCBI chr 4:150,095,743...150,221,104 JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:25741868 PMID:28492532 NCBI chr 1:154,815,777...154,828,764 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: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr11:68,677,869...68,687,117 JBrowse link
MORM Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 More... RGD:12911209 NCBI chr 3:29,614,868...29,627,542 JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:163,748,346...163,768,141 JBrowse link
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Zinc deficiency, transient neonatal
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 NCBI chr 5:151,843,451...151,855,674 JBrowse link
nutritional deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccs copper chaperone for superoxide dismutase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 1:202,113,792...202,134,931 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 2:104,368,336...104,427,119 JBrowse link
G Sod1 superoxide dismutase 1 IEP
ISO
Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr11:42,942,742...42,948,399 JBrowse link
obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aacs acetoacetyl-CoA synthetase IEP mRNA:altered expression:thalamus, hypothalamus (rat) RGD PMID:19219059 RGD:2326191 NCBI chr12:31,113,098...31,156,411 JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 susceptibility
disease_progression
ISO
IEP
DNA:SNP:exon:p.R230C (rs9282541) (human)
mRNA:increased expression:liver (rat)
RGD PMID:17287470 PMID:25612518 RGD:1601092, RGD:15045599 NCBI chr 5:72,473,676...72,596,563 JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 3:74,424,620...74,520,646 JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 disease_progression IEP mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr 6:9,965,118...9,990,563 JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:15331430 RGD:1601095 NCBI chr 6:9,945,629...9,964,912 JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:left ventricle myocardium (rat)
CTD
RGD
PMID:20882379 PMID:33310031 RGD:329955450 NCBI chr12:48,026,394...48,138,214 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:245,518,693...245,542,864 JBrowse link
G Ace angiotensin I converting enzyme no_association IEP
ISO
protein:increased expression:liver RGD PMID:19361967 PMID:17164796 RGD:2325227, RGD:1601115 NCBI chr10:91,410,129...91,430,246 JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:25,042,882...25,050,608 JBrowse link
G Acly ATP citrate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:85,412,045...85,464,253 JBrowse link
G Acox1 acyl-CoA oxidase 1 treatment IEP RGD PMID:30298849 RGD:401960083 NCBI chr10:101,905,083...101,930,136 JBrowse link
G Acp1 acid phosphatase 1 severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:2373509 PMID:9198310 RGD:1625289, RGD:2313187 NCBI chr 6:53,233,937...53,249,576 JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 8:28,939,984...28,946,639 JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO
IEP
mRNA:decreased expression:subcutaneous adipose tissue
mRNA, protein:increased expression:adipose tissue, liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20882379 PMID:16788709 PMID:1543733 RGD:1625735, RGD:1625737 NCBI chr16:45,755,246...45,821,541 JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chr 3:152,398,745...152,422,854 JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 IMP associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chr20:11,222,569...11,350,854 JBrowse link
G Adcy3 adenylate cyclase 3 treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity
CTD
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29311635 More... RGD:407550184 NCBI chr 6:32,819,602...32,923,174 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP
ISO
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with myocardial infarction; protein:decreased expression:plasma
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:10092513 PMID:14617771 PMID:16092047 PMID:19606374 PMID:18303100 More... RGD:1599149, RGD:2313239, RGD:5686809, RGD:5686813, RGD:8695927, RGD:14975146 NCBI chr11:91,226,524...91,240,244 JBrowse link
G Adipor1 adiponectin receptor 1 IEP
ISO
mRNA:increased expression:liver
mRNA:decreased expression:lymphocyte
RGD PMID:16483885 PMID:17391161 RGD:1625763, RGD:1625761 NCBI chr13:48,411,438...48,431,251 JBrowse link
G Adipor2 adiponectin receptor 2 treatment
severity
IEP mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
associated with non-alcoholic fatty liver disease
RGD PMID:16483885 PMID:30225267 PMID:23838384 PMID:30131158 RGD:1625763, RGD:21406435, RGD:8695926, RGD:25824942 NCBI chr 4:152,524,604...152,588,848 JBrowse link
G Adm adrenomedullin ISO mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chr 1:174,164,178...174,182,372 JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:16507638 RGD:1625369 NCBI chr13:45,658,872...45,695,821 JBrowse link
G Adra2a adrenoceptor alpha 2A ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:263,066,780...263,069,580 JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:10404816 RGD:1300265 NCBI chr 3:114,585,174...114,589,220 JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chr 1:265,777,103...265,780,114 JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility
no_association
ISO DNA:polymorphisms: :p.R16G, p.Q27E
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15687340 PMID:17027833 PMID:17221209 PMID:15118671 PMID:12161655 RGD:1601122, RGD:1601119, RGD:1331525, RGD:737773 NCBI chr18:57,912,760...57,914,802 JBrowse link
G Adrb3 adrenoceptor beta 3 no_association
susceptibility
ISO DNA:missense mutation:cds:p.W64R (human)
mRNA:decreased expression:interscapular region, brown adipose tissue (mouse)
DNA:missense mutation:cds:p.W64R rs4994 (human)
DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 More... RGD:1559325, RGD:5684359, RGD:5684409, RGD:5684773 NCBI chr16:64,839,820...64,844,552 JBrowse link
G Aff4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr10:37,998,319...38,080,580 JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr 7:62,897,282...62,914,295 JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:plasma (human) RGD PMID:23046363 PMID:22761461 RGD:7243247, RGD:7243250 NCBI chr20:4,152,758...4,155,956 JBrowse link
G Agrp agouti related neuropeptide IEP
ISO
mRNA:increased expression:hypothalamus
DNA:polymorphism:exon:c.199G>A, pAla67Thr (human)
DNA:polymorphism:promoter:-38C>T (human)
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity, late-onset
CTD Direct Evidence: marker/mechanism
DNA:SNP:T67A (rs5030980) (human)
OMIM
ClinVar
CTD
RGD
PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 PMID:18001323 More... RGD:2311538, RGD:1625232, RGD:1300272, RGD:2314000, RGD:1331525, RGD:405650675 NCBI chr19:33,447,992...33,481,602 JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
DNA:polymorphism: :p.T174M
RGD PMID:16713443 PMID:16514903 RGD:1601142, RGD:1601143 NCBI chr19:69,426,540...69,447,017 JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:15793237 RGD:2313554 NCBI chr  X:116,914,320...116,918,504 JBrowse link
G Ahi1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr 1:17,580,859...17,711,775 JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 PMID:30813227 PMID:31306034 NCBI chr 6:57,961,423...57,998,901 JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility ISO protein:increased expression:serum RGD PMID:17011519 PMID:19228823 PMID:17011519 RGD:1625793, RGD:2313809, RGD:1625793 NCBI chr11:78,121,388...78,127,998 JBrowse link
G Ak1 adenylate kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:15855311 RGD:1601154 NCBI chr 3:36,310,113...36,320,760 JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr10:74,118,232...74,151,366 JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO mRNA, protein:increased expression:adipose tissue RGD PMID:15494612 RGD:1626148 NCBI chr17:70,720,397...70,747,285 JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO mRNA, protein:increased expression:adipose tissue RGD PMID:15494612 RGD:1626148 NCBI chr17:70,669,684...70,717,935 JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr17:71,020,884...71,037,779 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:aorta
CTD
RGD
PMID:23954404 PMID:19293429 RGD:408364952 NCBI chr 6:137,534,810...137,555,131 JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO
IEP
protein:decreased activity:rectus abdominis (human)
protein:decreased expression:plantaris (rat)
RGD PMID:12663464 PMID:17923673 PMID:18508911 RGD:2313409, RGD:2313406, RGD:2313320 NCBI chr 1:92,004,705...92,061,420 JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:123,059,989...123,106,471 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 6:104,077,975...104,098,636 JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISS OMIM:601665 MouseDO NCBI chr 4:119,683,085...119,783,471 JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type IEP
ISO
mRNA:increased expression:adipose tissue, fat cell RGD PMID:20978234 PMID:18780776 RGD:5509594, RGD:5509628 NCBI chr10:54,958,263...54,970,542 JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA:increased expression:adipose tissue (mouse)
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD PMID:17379835 PMID:19596146 RGD:2313913, RGD:2313884 NCBI chr12:10,785,254...10,809,295 JBrowse link
G Amh anti-Mullerian hormone ISO protein:decreased expression:serum RGD PMID:17109858 RGD:1601182 NCBI chr 7:9,557,451...9,559,867 JBrowse link
G Ang angiogenin ISO protein:increased expression:adipose tissue RGD PMID:22748184 RGD:6892722 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Angptl4 angiopoietin-like 4 resistance ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:28842503 PMID:17210919 RGD:1625353 NCBI chr 7:14,550,288...14,557,797 JBrowse link
G Angptl6 angiopoietin-like 6 ISS OMIM:601665 MouseDO NCBI chr 8:27,689,804...27,696,172 JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO
ISS
OMIM:601665 MouseDO
RGD
PMID:18162531 RGD:9681744 NCBI chr 4:151,670,604...151,740,032 JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:17977742 RGD:2313916 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apcdd1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr18:56,385,398...56,416,065 JBrowse link
G Apln apelin IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:132,058,739...132,091,518 JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression RGD PMID:9933608 PMID:12725089 RGD:2313959, RGD:1601185 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:serum RGD PMID:9933608 PMID:9002300 RGD:2313959, RGD:1601191 NCBI chr13:83,644,460...83,646,358 JBrowse link
G Apoa4 apolipoprotein A4 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 8:55,435,779...55,438,160 JBrowse link
G Apoa5 apolipoprotein A5 ISO DNA:SNP: :rs662799 (human) GAD
RGD
PMID:15118671 PMID:25606423 RGD:1331525, RGD:329901774 NCBI chr 8:46,561,180...46,563,818 JBrowse link
G Apob apolipoprotein B ISO associated with Insulin Resistance;protein:increased expression:plasma RGD
GAD
PMID:19592617 PMID:15118671 RGD:2313974, RGD:1331525 NCBI chr 6:36,563,704...36,603,300 JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IEP mRNA:increased expression:liver RGD PMID:8781289 RGD:1626278 NCBI chr 4:155,800,030...155,828,515 JBrowse link
G Apoc1 apolipoprotein C1 ISO RGD PMID:11723061 RGD:2313951 NCBI chr 1:79,347,057...79,350,340 JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 1:79,329,429...79,334,397 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD
GAD
PMID:9002300 PMID:15118671 RGD:1601191, RGD:1331525 NCBI chr 8:46,531,478...46,533,658 JBrowse link
G Apod apolipoprotein D ISO DNA:polymorphism RGD PMID:7913935 RGD:2311179 NCBI chr11:82,936,216...82,957,264 JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20975297 PMID:9002300 PMID:15118671 PMID:17192461 RGD:1601191, RGD:1331525, RGD:1601230 NCBI chr 1:88,481,889...88,485,816 JBrowse link
G App amyloid beta precursor protein treatment ISO mRNA,protein:increased expression:adipocyte,plasma: RGD PMID:19672057 RGD:10054260 NCBI chr11:37,506,207...37,724,351 JBrowse link
G Aqp7 aquaporin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325777 NCBI chr 5:56,171,649...56,186,642 JBrowse link
G Ar androgen receptor susceptibility ISO
ISS
DNA:repeats: :GGN, CAG
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG
OMIM:601665
MouseDO
RGD
PMID:12532157 PMID:15118671 PMID:18805913 RGD:1601246, RGD:1331525, RGD:2306771 NCBI chr  X:63,104,771...63,273,934 JBrowse link
G Arl13b ARF like GTPase 13B ISO protein:decreased expression:hypothalamus, cilium (mouse) RGD PMID:22581473 RGD:11553936 NCBI chr11:13,597,538...13,663,681 JBrowse link
G Asip agouti signaling protein susceptibility ISO
ISS
DNA, mRNA:deletion, insertions, increased expression: multiple organs
OMIM:601665
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:1473152 PMID:8146154 PMID:25447408 PMID:25448685 PMID:32937126 More... RGD:1625724 NCBI chr 3:163,933,768...164,021,377 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 susceptibility ISO RGD PMID:16286513 RGD:1601250 NCBI chr13:84,729,597...84,754,544 JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment IDA RGD PMID:25822172 RGD:14696745 NCBI chr16:76,144,150...76,153,063 JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment IDA RGD PMID:26880535 RGD:13782133 NCBI chr 7:515,454...521,858 JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO RGD PMID:19549744 RGD:14696798 NCBI chr17:73,333,584...73,355,872 JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IDA RGD PMID:27874268 RGD:13792665 NCBI chr 7:9,560,604...9,565,919 JBrowse link
G Atp5mc2 ATP synthase membrane subunit c locus 2 ISO RGD PMID:26709097 RGD:11535661 NCBI chr 7:133,791,341...133,799,713 JBrowse link
G Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 5:129,265,789...129,292,463 JBrowse link
G Atrn attractin ISO RGD PMID:10086355 RGD:734623 NCBI chr 3:118,110,320...118,244,326 JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO
IEP
associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue
protein:decreased expression:plasma
mRNA, protein:decreased expression:fat pad, liver,plasma
mRNA:decreased expression:fat pad
RGD PMID:29755407 PMID:21136593 PMID:19934249 PMID:19934249 RGD:153350147, RGD:153350156, RGD:153350157, RGD:153350157 NCBI chr12:16,930,990...16,939,333 JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:urine RGD PMID:15517379 RGD:1601309 NCBI chr 3:129,549,236...129,555,354 JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:increased expression:heart left ventricle RGD PMID:18070754 RGD:2292682 NCBI chr 1:213,562,719...213,572,034 JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO mRNA:decreased expression:adipose tissue RGD PMID:22187378 RGD:14390162 NCBI chr17:58,816,438...58,821,003 JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 no_association ISO
ISS
DNA:mutation: :p.M390R (human)
OMIM:601665
MouseDO
RGD
PMID:14993910 PMID:33722691 RGD:1601314, RGD:243065268 NCBI chr 1:202,184,812...202,204,118 JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr19:10,909,653...10,944,998 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 onset ISO
ISS
DNA:SNPs
OMIM:601665
MouseDO
RGD
PMID:17003356 RGD:1601311 NCBI chr 8:59,731,912...59,765,408 JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 NCBI chr 2:160,607,289...160,699,760 JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:decreased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr13:23,204,464...23,366,900 JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:17184856 RGD:1625733 NCBI chr 6:130,275,631...130,284,968 JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:plasma
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity
ClinVar
RGD
PMID:11840487 PMID:25741868 PMID:28492532 PMID:17151862 RGD:10059350 NCBI chr 3:116,619,633...116,670,212 JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP RGD PMID:18070754 RGD:2292682 NCBI chr 1:203,137,778...203,154,962 JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:4,728,282...4,737,286 JBrowse link
G Brs3 bombesin receptor subtype 3 ISO RGD PMID:9367152 RGD:734661 NCBI chr  X:134,906,817...134,932,321 JBrowse link
G C3 complement C3 treatment IDA RGD PMID:23118029 RGD:7411625 NCBI chr 9:2,174,412...2,201,339 JBrowse link
G C5ar1 complement C5a receptor 1 treatment IDA RGD PMID:23118029 RGD:7411625 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Cadm2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:31341224 RGD:15092077 NCBI chr11:4,548,367...5,525,420 JBrowse link
G Canx calnexin ISO protein:increased expression:subcutaneous adipose tissue RGD PMID:18567819 RGD:2314284 NCBI chr10:35,124,941...35,157,954 JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs RGD PMID:16752174 RGD:1625047 NCBI chr 9:100,943,665...100,957,910 JBrowse link
G Car3 carbonic anhydrase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:adipocyte
CTD
RGD
PMID:20882379 PMID:8476041 RGD:408426009 NCBI chr 2:88,491,666...88,501,299 JBrowse link
G Cartpt CART prepropeptide no_association
susceptibility
ISO DNA:deletion, substitution: :1457delA, 1475A>G (human)
DNA:missense mutation:exon:729G>C, p.L34F (human)
DNA:polymorphism:3' utr (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:11522684 PMID:15326462 PMID:25741868 PMID:10574510 PMID:11522684 More... RGD:2313634, RGD:1625192, RGD:2313633 NCBI chr 2:32,989,215...32,991,794 JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 8:10,746,338...10,882,295 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 Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity
ClinVar PMID:18604207 PMID:22210313 PMID:23383060 PMID:25741868 PMID:28492532 NCBI chr 2:5,707,633...5,817,213 JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:22492718 RGD:6784520 NCBI chr 4:46,606,538...46,639,616 JBrowse link
G Cav2 caveolin 2 IEP RGD PMID:22492718 RGD:6784520 NCBI chr 4:46,582,681...46,590,058 JBrowse link
G Cckar cholecystokinin A receptor IAGP
ISO
DNA:deletion RGD PMID:9530226 PMID:9192855 RGD:7257724, RGD:734711 NCBI chr14:57,292,397...57,300,747 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO
IEP
protein, mRNA:increased expression:plasma, fat
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29035695 PMID:17803693 PMID:18469848 RGD:2306993, RGD:2307038 NCBI chr10:67,503,077...67,504,875 JBrowse link
G Ccl4 C-C motif chemokine ligand 4 IEP RGD PMID:21862610 RGD:5683906 NCBI chr10:68,963,893...68,965,728 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased expression:serum RGD PMID:18469848 RGD:2307038 NCBI chr10:68,820,330...68,824,906 JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:18492752 RGD:6483834 NCBI chr10:67,514,095...67,515,945 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr 8:123,586,100...123,634,178 JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:157,085,080...157,118,470 JBrowse link
G Cd36 CD36 molecule IEP
ISO
IMP
mRNA, protein:increased expression:liver, gastrocnemius
protein:increased expression:skeletal muscle, T-tubule
RGD PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 RGD:6893497, RGD:6893542, RGD:11041118, RGD:11041132 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd40 CD40 molecule treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29035695 PMID:21670556 RGD:7248753 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:21817098 PMID:20660932 RGD:5490592, RGD:5490970 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:54,880,562...54,882,441 JBrowse link
G Cdk4 cyclin-dependent kinase 4 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) RGD PMID:19634152 RGD:2314609 NCBI chr 7:64,771,453...64,774,891 JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr17:34,718,701...35,271,276 JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:liver RGD PMID:23357529 RGD:10045356 NCBI chr 4:169,491,273...169,496,500 JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IEP RGD PMID:22194422 RGD:8552660 NCBI chr 5:109,100,763...109,114,448 JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO RGD PMID:16627576 RGD:2301355 NCBI chr18:39,432,473...39,447,253 JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 1:87,759,631...87,762,303 JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:27,203,642...27,218,394 JBrowse link
G Cers1 ceramide synthase 1 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:30605666 RGD:156431060 NCBI chr16:19,131,271...19,146,480 JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr19:30,046,494...30,085,039 JBrowse link
G Cfd complement factor D IEP
ISO
mRNA, protein:decreased expression:adipocyte, serum RGD PMID:2197880 PMID:14564690 RGD:1624327, RGD:1624324 NCBI chr 7:9,813,148...9,814,871 JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20975297 PMID:16186410 RGD:1625390 NCBI chr18:63,164,817...63,190,384 JBrowse link
G Cnr1 cannabinoid receptor 1 no_association ISO
IMP
IEP
DNA:polymorphism:exon:3813A>G (human)
DNA:polymorphism: :1256C>A, 1419+1G>C (human)
CTD Direct Evidence: marker/mechanism
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus
DNA:hypermethylation:promoter, peripheral blood mononuclear cell
CTD
RGD
PMID:18722357 PMID:17405839 PMID:17292652 PMID:19530697 PMID:19325539 More... RGD:1626325, RGD:1626326, RGD:2314629, RGD:2314630, RGD:401827956, RGD:401827956 NCBI chr 5:53,204,867...53,230,396 JBrowse link
G Cntf ciliary neurotrophic factor no_association ISO DNA:point mutation:intron:G>A RGD PMID:14747836 PMID:12404108 RGD:1626114, RGD:1626113 NCBI chr 1:209,887,854...209,889,877 JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr10:80,380,458...80,397,461 JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr 9:54,866,646...54,902,578 JBrowse link
G Col4a1 collagen type IV alpha 1 chain IEP mRNA:increased expression:kidney (rat) RGD PMID:28746409 RGD:401965413 NCBI chr16:84,885,597...84,996,482 JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism:exon RGD PMID:17497175 RGD:2289713 NCBI chr11:96,072,371...96,091,956 JBrowse link
G Cox7c cytochrome c oxidase subunit 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:18,577,145...18,579,170 JBrowse link
G Cox8b cytochrome c oxidase, subunit VIIIb IDA RGD PMID:16027000 RGD:2301397 NCBI chr 1:195,977,183...195,978,643 JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16959692 PMID:11836301 RGD:2313645 NCBI chr15:50,557,722...50,606,569 JBrowse link
G Cpe carboxypeptidase E no_association ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:601665
DNA:SNP:intron (rs1946816, rs4481204) (human)
CTD
MouseDO
RGD
PMID:15358678 PMID:23434795 PMID:9662053 PMID:7663508 PMID:23900445 RGD:1626184, RGD:1626181, RGD:405650675 NCBI chr16:25,030,276...25,142,231 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP RGD PMID:15481768 RGD:2303517 NCBI chr 9:76,063,863...76,186,739 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment IEP mRNA:decreased expression:liver
mRNA:decreased expression:left ventricle myocardium (rat)
RGD PMID:16751799 PMID:33310031 RGD:2311345, RGD:329955450 NCBI chr 1:209,993,881...210,056,329 JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:11564446 RGD:5508830 NCBI chr 2:104,059,184...104,061,048 JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:decreased expression:anterior pituitary gland (rat) RGD PMID:10600923 RGD:5508840 NCBI chr 2:28,427,139...28,439,446 JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO DNA:SNP:CDS:861C>T (human) RGD PMID:14724656 RGD:1626226 NCBI chr10:89,540,192...89,583,466 JBrowse link
G Crp C-reactive protein disease_progression ISO
IEP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (rat)
CTD
RGD
PMID:24042701 PMID:20660932 PMID:25612518 RGD:5490970, RGD:15045599 NCBI chr13:87,694,062...87,695,978 JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 7:1,348,389...1,374,624 JBrowse link
G Cst3 cystatin C IEP
ISO
protein:increased expression:plasma (rat)
protein:increased expression:serum (human)
RGD PMID:18946178 PMID:18374694 RGD:2314297, RGD:2314346 NCBI chr 3:136,336,923...136,340,796 JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:182,328,035...182,336,346 JBrowse link
G Ctsc cathepsin C IEP RGD PMID:3705543 RGD:1599645 NCBI chr 1:142,028,386...142,059,841 JBrowse link
G Ctss cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:21156398 NCBI chr 2:185,775,316...185,803,440 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:SNP: :p.T280M (human) RGD PMID:20523302 RGD:4891903 NCBI chr 8:128,661,294...128,679,048 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:25016030 RGD:13673852 NCBI chr13:42,630,383...42,634,288 JBrowse link
G Cyb5a cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr18:78,213,067...78,245,677 JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317704 NCBI chr 4:80,982,667...80,984,767 JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:21,093,927...21,103,091 JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:117,041,808...117,058,628 JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) RGD PMID:17223345 RGD:2307312 NCBI chr 7:64,756,626...64,761,570 JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 IEP protein:decreased expression:liver RGD PMID:18589557 RGD:2301455 NCBI chr 1:90,646,098...90,669,762 JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP
ISO
protein:increased activity:liver,fat
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23954404 PMID:17049493 RGD:1626307 NCBI chr 1:205,269,967...205,280,365 JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO associated with hypertension:DNA:SNP:CDS: rs12794714 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:168,749,302...168,798,079 JBrowse link
G Dcn decorin IEP RGD PMID:17244723 RGD:1600551 NCBI chr 7:34,167,973...34,208,004 JBrowse link
G Dcxr dicarbonyl and L-xylulose reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:106,006,404...106,008,293 JBrowse link