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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:nutrition disease
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Accession:DOID:374 term browser browse the term
Definition:Disorders caused by nutritional imbalance, either overnutrition or undernutrition.
Synonyms:exact_synonym: Nutrition Disorder;   Nutrition Disorders;   Nutritional Disorder;   Nutritional Disorders
 primary_id: MESH:D009748;   RDO:0005856
 xref: 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 chr10:88,257,975...88,266,210
Ensembl chr10:88,257,976...88,266,210
JBrowse link
G Tfrc transferrin receptor IEP protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
Abdominal Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
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 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:115,941,998...116,002,550
Ensembl chr 2:115,941,993...116,002,561
JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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 chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome, protection against ClinVar
OMIM
PMID:16721486 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:24,402,895...24,419,651
Ensembl chr 5:24,410,863...24,416,888
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 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by OMIM:615812 OMIM
ClinVar
PMID:24827035 NCBI chr 1:85,112,819...85,120,840
Ensembl chr 1:85,112,247...85,120,839
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:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
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 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201100
ClinVar
CTD
OMIM
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:17483098 PMID:19370757 PMID:20981092 PMID:24033266 PMID:25741868 PMID:28492532, PMID:12068297 RGD:1599005 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
OMIM
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:26186302 PMID:26467025 PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:28492532 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
ClinVar Annotator: match by OMIM:301900
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24728327 PMID:25741868 PMID:25741869 PMID:27633282 PMID:28492532 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
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 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:11,344,513...11,359,090
Ensembl chr20:11,344,514...11,359,090
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 chr18:65,814,026...65,885,115
Ensembl chr18:65,814,026...65,885,114
JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 AF4/FMR2 family, member 4 ISO ClinVar Annotator: match by term: Chops syndrome ClinVar
OMIM
PMID:25730767 PMID:25741868 PMID:28492532 NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar
OMIM
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:31814248 NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22527104 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334764 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28631888 PMID:28832562 PMID:29431110 PMID:29453417 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30602132 PMID:32860008 NCBI chr 7:74,118,834...74,722,341 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: Intrinsic factor deficiency
ClinVar Annotator: match by OMIM:261000
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25741868 PMID:27577878 PMID:28492532, PMID:14695536 RGD:11049582 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
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: Leptin deficiency or dysfunction
ClinVar Annotator: match by term: Leptin dysfunction
ClinVar Annotator: match by OMIM:614962
OMIM
ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:20140086 PMID:25551525 PMID:25741868 PMID:28209183 PMID:28492532 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria
ClinVar Annotator: match by OMIM:219500
OMIM
ClinVar
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:28716860 PMID:29576450 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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 DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar PMID:23033978 PMID:25741868 PMID:29209020 NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar
OMIM
PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:29209020 NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077
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:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Phex phosphate regulating endopeptidase homolog, 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 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
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 PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Ataxia, Friedreich-like, with isolated vitamin E deficiency
ClinVar Annotator: match by OMIM:277460
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 PMID:8965888 PMID:9463307 PMID:9588854 PMID:9931538 PMID:10360777 PMID:10896705 PMID:11013295 PMID:11752462 PMID:12039660 PMID:12112220 PMID:12470185 PMID:12899840 PMID:12907280 PMID:15065857 PMID:15300460 PMID:15953402 PMID:16819822 PMID:17049453 PMID:18414213 PMID:18458085 PMID:18458655 PMID:19566498 PMID:21228398 PMID:22696689 PMID:23077608 PMID:23445347 PMID:23599266 PMID:23713716 PMID:24033266 PMID:24369383 PMID:25614784 PMID:25741868 PMID:26068213 PMID:26467025 PMID:27274910 PMID:27307040 PMID:28492532 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
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 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532, PMID:21327084 RGD:9588626 NCBI chr13:100,431,390...100,450,209 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: Hereditary Folate Malabsorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:20686069 NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by OMIM:229050
OMIM
ClinVar
CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 PMID:18559978 PMID:19176287 PMID:20686069 PMID:20795774 PMID:20805364 PMID:21333572 PMID:21346251 PMID:25741868 PMID:28492532 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
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 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by OMIM:241530
OMIM
ClinVar
PMID:2983203 PMID:16358214 PMID:16358215 PMID:16849419 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29809158 PMID:33223529 NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by OMIM:236200
ClinVar
OMIM
PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 PMID:7581402 PMID:7611293 PMID:7635485 PMID:7762555 PMID:7849717 PMID:7967489 PMID:7981678 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8744616 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8940285 PMID:8990018 PMID:9156316 PMID:9232191 PMID:9266356 PMID:9361025 PMID:9587029 PMID:9590298 PMID:9708897 PMID:9813456 PMID:9864922 PMID:9870207 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10363126 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10687314 PMID:10780316 PMID:10807759 PMID:11204591 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11524006 PMID:11553052 PMID:11774777 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12379655 PMID:12552044 PMID:12686134 PMID:12815602 PMID:12828591 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:15494741 PMID:15993874 PMID:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 PMID:16470595 PMID:16479318 PMID:16619244 PMID:16786517 PMID:17069888 PMID:17072863 PMID:17319270 PMID:17327360 PMID:17352495 PMID:17540596 PMID:18201569 PMID:18280597 PMID:18423051 PMID:18454451 PMID:18708589 PMID:18805305 PMID:18950795 PMID:19232736 PMID:19370759 PMID:19429038 PMID:19819175 PMID:19906435 PMID:19914636 PMID:20066033 PMID:20308073 PMID:20455263 PMID:20490928 PMID:20506325 PMID:20567906 PMID:20601281 PMID:20694756 PMID:20821054 PMID:20871414 PMID:21030686 PMID:21062078 PMID:21240075 PMID:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22002135 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22353391 PMID:22382802 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22977242 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23812867 PMID:23934999 PMID:23974653 PMID:23981774 PMID:24033266 PMID:24138954 PMID:24211323 PMID:24613005 PMID:24990611 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25326637 PMID:25331909 PMID:25516723 PMID:25741868 PMID:25939784 PMID:26464485 PMID:26750749 PMID:27243974 PMID:27959664 PMID:28421128 PMID:28488385 PMID:28492532 PMID:28550590 PMID:28583326 PMID:28980096 PMID:29326875 PMID:29352562 PMID:29508359 PMID:29650765 PMID:30246729 PMID:30732165 PMID:32245022 PMID:33223529, PMID:7506602 RGD:1600622 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
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 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 PMID:25741868 PMID:25856670 PMID:28492532 PMID:28666289 PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266, PMID:15714522 RGD:5508189 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:26,164,969...26,736,704 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 null
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive
ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 PMID:7635485 PMID:7762555 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8990018 PMID:9156316 PMID:9232191 PMID:9361025 PMID:9587029 PMID:9708897 PMID:9864922 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10807759 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12552044 PMID:12686134 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16479318 PMID:16619244 PMID:17072863 PMID:17540596 PMID:18201569 PMID:18805305 PMID:19232736 PMID:19819175 PMID:20066033 PMID:20490928 PMID:20506325 PMID:20567906 PMID:21520339 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:23592311 PMID:23974653 PMID:24033266 PMID:24211323 PMID:25044645 PMID:25218699 PMID:25331909 PMID:25516723 PMID:25741868 PMID:26750749 PMID:28488385 PMID:28492532 PMID:28583326 PMID:29650765 PMID:33223529 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation 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 ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:15797993 PMID:15979034 PMID:16013960 PMID:18368069 PMID:20120036 PMID:22887477 PMID:22992668 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:30041674 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:99,886,373...100,072,674
NCBI chr13:101,936,210...101,973,640
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Hydrops fetalis, non-immune
ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME ClinVar PMID:9029003 PMID:11722414 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25741868 PMID:26633545 PMID:28492532 PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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 OMIM:115300 OMIM
ClinVar
PMID:5453458 PMID:17951468 NCBI chr19:49,637,059...49,673,577
Ensembl chr19:49,637,016...49,673,808
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISO
mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 PMID:19028542 PMID:19204075 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25326637 PMID:25741868 PMID:28492532, PMID:16636197, PMID:10704624 RGD:1600624, RGD:40903036 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 PMID:16575899 PMID:17387702 PMID:18234410 PMID:18551038 PMID:19204075 PMID:19646848, PMID:10679944, PMID:12471611 RGD:1601421, RGD:10449400 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hypochromic microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Steap3 STEAP3 metalloreductase ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Steap3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 PMID:16439678 PMID:25741868 PMID:28492532 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steap3 STEAP3 metalloreductase ISO ClinVar Annotator: match by OMIM:615234 OMIM
ClinVar
PMID:22031863 NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:25741868 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
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 PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:17033621 PMID:17033625 PMID:21050253 PMID:25741868 PMID:28492532 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16315058 PMID:16607460 PMID:16968801 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:24033266 PMID:25741868 PMID:27467858 PMID:28492532, PMID:20137773, PMID:20137772 RGD:6906930, RGD:6906931 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
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 intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
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 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
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
ClinVar
OMIM
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795, PMID:10080186 RGD:61796 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
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: IMERSLUND-GRASBECK SYNDROME 2
ClinVar
OMIM
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:22078000 PMID:24156255 PMID:26040326, PMID:17114957 RGD:11071839 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal
ClinVar Annotator: match by OMIM:602014
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532 NCBI chr 1:234,478,908...234,631,264
Ensembl chr 1:234,479,289...234,596,971
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP
mRNA:decreased expression:liver RGD PMID:17218383, PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
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 chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543, PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Iron deficiency anemia ClinVar PMID:11971877 PMID:16527883 PMID:20506269 PMID:22161697 PMID:22513199 PMID:25741868 PMID:25845478 PMID:26025129 PMID:28492532 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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 PMID:17116712, PMID:17116743 RGD:2311409 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia, UMLS MESH term: Anemia, Iron-Deficiency
ClinVar PMID:11703331 PMID:12752114 PMID:16398662, PMID:11703331 RGD:1601513 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
CTD PMID:16733738 PMID:17162259 PMID:17163184, PMID:15104997, PMID:17877204, PMID:26303393 RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 7:119,659,323...119,689,953
Ensembl chr 7:119,659,324...119,689,938
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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: Leptin receptor deficiency
ClinVar Annotator: match by term: LEPR-Related Disorders
ClinVar Annotator: match by term: OBESITY, MORBID, NONSYNDROMIC 2
ClinVar Annotator: match by OMIM:614963
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:24611737 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 PMID:29970488 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Leprot leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: OBESITY, MORBID, NONSYNDROMIC 2
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar PMID:28492532 NCBI chr 5:120,498,910...120,511,011
Ensembl chr 5:120,498,883...120,511,017
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125 PMID:29905864 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO OMIM NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
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 chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Nefl neurofilament light IEP protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium IEP protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
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: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar Annotator: match by term: MEHMO syndrome
ClinVar
OMIM
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:63,268,106...63,291,125
Ensembl chr  X:63,268,037...63,292,092
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency 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: Homocystinuria due to MTHFR deficiency
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:14647408 PMID:15048559 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20490923 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:21778025 PMID:22143415 PMID:22838948 PMID:22887477 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24033266 PMID:24241962 PMID:24637499 PMID:24797679 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25065700 PMID:25079578 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25778468 PMID:25856670 PMID:26014925 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27399166 PMID:27743313 PMID:27768236 PMID:28492532 PMID:28696419 PMID:29391032 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:11261516 PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23580368 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26412180 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28454995 PMID:28492532 PMID:28693988 PMID:29042959 PMID:29294253 PMID:29379858 PMID:29396438 PMID:30157807 PMID:32164588 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM
PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
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
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:22922874 PMID:25741868 PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: PSEUDO-IRON-DEFICIENCY ANEMIA ClinVar PMID:25741868 PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Microcytic anemia
ClinVar Annotator: match by term: PSEUDO-IRON-DEFICIENCY ANEMIA
ClinVar Annotator: match by OMIM:206200
OMIM
ClinVar
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 PMID:20719010 PMID:25156943 PMID:25741868 PMID:25873000 PMID:28492532 PMID:32581362 NCBI chr 7:119,659,323...119,689,953
Ensembl chr 7:119,659,324...119,689,938
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 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr 6:28,570,941...28,648,848
Ensembl chr 6:28,571,351...28,650,148
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Aqp7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr 5:57,358,297...57,372,332
Ensembl chr 5:57,358,327...57,372,239
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
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 chr16:26,906,716...27,014,811
Ensembl chr16:26,906,716...27,014,813
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 3:154,212,245...154,373,170
Ensembl chr 3:154,212,202...154,373,169
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:12883487 RGD:1626305 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:44,531,376...44,911,835
Ensembl chr12:44,536,293...44,911,147
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OBESITY, MORBID
CTD
ClinVar
PMID:8666155 PMID:9537324 PMID:11354636 PMID:11443193 PMID:12006639 PMID:17785359 PMID:18490929 PMID:21393862 PMID:21744741 PMID:22331430 PMID:26467025 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 PMID:29311635, PMID:11443223, PMID:12588803 RGD:1600755, RGD:1600750 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr 7:122,456,846...122,459,324
Ensembl chr 7:122,456,799...122,459,960
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:15855352 RGD:1642381 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 onset ISO RGD PMID:16702999 RGD:1626135 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: OBESITY, SEVERE, UMLS MESH term: Severe Obesity ClinVar PMID:9753710 PMID:10690291 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:28492532 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657 PMID:28492532 NCBI chr11:71,921,713...71,938,335
Ensembl chr11:71,921,716...71,938,165
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 DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)
ClinVar Annotator: match by OMIM:610156
OMIM
ClinVar
PMID:19668215, PMID:19668215 RGD:12911209 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
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 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10677336 PMID:10732818 PMID:10869114 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25741868 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28696419 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608118
OMIM
CTD
ClinVar
PMID:17065149 PMID:22733820 NCBI chr 5:152,559,577...152,571,800
Ensembl chr 5:152,559,577...152,571,799
JBrowse link
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
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 1:220,075,251...220,096,319
Ensembl chr 1:220,075,247...220,096,404
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Sod1 superoxide dismutase 1 IEP
ISO
Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:12514262, PMID:15337829 RGD:1358244 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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 chr12:36,512,393...36,555,694
Ensembl chr12:36,512,393...36,555,694
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:15331430 RGD:1601095 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Acly ATP citrate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:88,392,248...88,442,845
Ensembl chr10:88,392,248...88,442,845
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 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO
IEP
mRNA:decreased expression:subcutaneous adipose tissue
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:adipose tissue, liver
CTD PMID:20882379, PMID:16788709, PMID:1543733 RGD:1625735, RGD:1625737 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 IMP associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
CTD
ClinVar
PMID:29311635 PMID:29311636 PMID:29311637 NCBI chr 6:28,570,941...28,648,848
Ensembl chr 6:28,571,351...28,650,148
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP
ISO
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Diabetes Mellitus, Type 2
associated with myocardial infarction; protein:decreased expression:plasma
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
CTD PMID:10092513 PMID:11549668 PMID:14617771, PMID:16092047, PMID:28843383, PMID:23731386, PMID:18651432, PMID:18303100, PMID:19606374 RGD:1599149, RGD:14975146, RGD:8695927, RGD:5686813, RGD:5686809, RGD:2313239 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 treatment
severity
IEP mRNA:increased expression:liver
associated with non-alcoholic fatty liver disease
mRNA:decreased expression:liver (rat)
RGD PMID:16483885, PMID:30131158, PMID:23838384, PMID:30225267 RGD:1625763, RGD:25824942, RGD:8695926, RGD:21406435 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adm adrenomedullin ISO mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:16507638 RGD:1625369 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081
JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:10404816 RGD:1300265 NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility
no_association
ISO DNA:polymorphisms: :p.R16G, p.Q27E
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:15687340, PMID:17027833, PMID:12161655, PMID:15118671, PMID:17221209 RGD:1601122, RGD:737773, RGD:1331525, RGD:1601119 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 no_association ISO DNA:missense mutation:cds:p.W64R (human)
ClinVar Annotator: match by OMIM:601665
DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human)
DNA:missense mutation:cds:p.W64R rs4994 (human)
mRNA:decreased expression:interscapular region, brown adipose tissue (mouse)
ClinVar
OMIM
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 PMID:9100608 PMID:9112025 PMID:9449691 PMID:9709965 PMID:9814483 PMID:9892244 PMID:10323390 PMID:10323402 PMID:10999801 PMID:11095426 PMID:15472194, PMID:9126344, PMID:9892244, PMID:11882399, PMID:19373220 RGD:1559325, RGD:5684773, RGD:5684409, RGD:5684359 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Aff4 AF4/FMR2 family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr 7:70,360,199...70,377,422
Ensembl chr 7:70,364,813...70,377,422
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agrp agouti related neuropeptide IEP
ISO
mRNA:increased expression:hypothalamus
ClinVar Annotator: match by term: Obesity, late-onset
DNA:polymorphism:promoter:-38C>T (human)
DNA:polymorphism:exon:c.199G>A, pAla67Thr (human)
ClinVar
OMIM
PMID:11602360 PMID:12213871 PMID:15054840, PMID:18001323, PMID:15118671, PMID:11554767, PMID:11344185, PMID:12213871 RGD:2311538, RGD:1331525, RGD:2314000, RGD:1300272, RGD:1625232 NCBI chr19:37,525,941...37,584,875
Ensembl chr19:37,526,419...37,528,011
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:15793237 RGD:2313554 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 PMID:30813227 PMID:31306034 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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 chr11:81,711,269...81,717,594 JBrowse link
G Ak1 adenylate kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:15855311 RGD:1601154 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr10:76,151,013...76,183,987
Ensembl chr10:76,151,038...76,166,276
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO mRNA, protein:increased expression:adipose tissue RGD PMID:15494612 RGD:1626148 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO mRNA, protein:increased expression:adipose tissue RGD PMID:15494612 RGD:1626148 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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:18508911, PMID:17923673 RGD:2313409, RGD:2313320, RGD:2313406 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:123,516,553...123,564,067
Ensembl chr 4:123,516,788...123,557,501
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISS OMIM:601665 MouseDO NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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 chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
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 chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Amh anti-Mullerian hormone ISO protein:decreased expression:serum RGD PMID:17109858 RGD:1601182 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503
JBrowse link
G Ang angiogenin ISO protein:increased expression:adipose tissue RGD PMID:22748184 RGD:6892722 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Angptl4 angiopoietin-like 4 resistance ISO CTD Direct Evidence: therapeutic CTD PMID:28842503, PMID:17210919 RGD:1625353 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Angptl6 angiopoietin-like 6 ISS OMIM:601665 MouseDO NCBI chr 8:21,895,523...21,902,002
Ensembl chr 8:21,895,524...21,901,829
JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO
ISS
OMIM:601665 MouseDO PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:17977742 RGD:2313916 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apcdd1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr18:58,270,398...58,300,982
Ensembl chr18:58,270,410...58,301,002
JBrowse link
G Apln apelin IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression RGD PMID:9933608, PMID:12725089 RGD:2313959, RGD:1601185 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:serum RGD PMID:9933608, PMID:9002300 RGD:2313959, RGD:1601191 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoa4 apolipoprotein A4 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoa5 apolipoprotein A5 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IEP mRNA:increased expression:liver RGD PMID:8781289 RGD:1626278 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
JBrowse link
G Apoc1 apolipoprotein C1 ISO RGD PMID:11723061 RGD:2313951 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD
GAD
PMID:9002300, PMID:15118671 RGD:1601191, RGD:1331525 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apod apolipoprotein D ISO DNA:polymorphism RGD PMID:7913935 RGD:2311179 NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:20975297, PMID:9002300, PMID:17192461, PMID:15118671 RGD:1601191, RGD:1601230, RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein treatment ISO mRNA,protein:increased expression:adipocyte,plasma: RGD PMID:19672057 RGD:10054260 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Aqp7 aquaporin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325777 NCBI chr 5:57,358,297...57,372,332
Ensembl chr 5:57,358,327...57,372,239
JBrowse link
G Ar androgen receptor susceptibility ISO
ISS
DNA:repeats: :GGN, CAG
OMIM:601665
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG
MouseDO PMID:12532157, PMID:18805913, PMID:15118671 RGD:1601246, RGD:2306771, RGD:1331525 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO protein:decreased expression:hypothalamus, cilium (mouse) RGD PMID:22581473 RGD:11553936 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Asip agouti signaling protein susceptibility ISO DNA, mRNA:deletion, insertions, increased expression: multiple organs
CTD Direct Evidence: marker/mechanism
CTD PMID:1473152 PMID:8146154 PMID:25447408 PMID:25448685, PMID:7987393 RGD:1625724 NCBI chr 3:150,492,010...150,579,870
Ensembl chr 3:150,574,473...150,579,870
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 susceptibility ISO RGD PMID:16286513 RGD:1601250 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment IDA RGD PMID:25822172 RGD:14696745 NCBI chr16:81,136,218...81,145,131
Ensembl chr16:81,136,218...81,145,131
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment IDA RGD PMID:26880535 RGD:13782133 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO RGD PMID:19549744 RGD:14696798 NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IDA RGD PMID:27874268 RGD:13792665 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Atp5mc2 ATP synthase membrane subunit c locus 2 ISO RGD PMID:26709097 RGD:11535661 NCBI chr 7:144,264,207...144,272,578
Ensembl chr 7:144,264,199...144,272,578
JBrowse link
G Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 5:134,641,618...134,667,079
Ensembl chr 5:134,641,608...134,667,084
JBrowse link
G Atrn attractin ISO RGD PMID:10086355 RGD:734623 NCBI chr 3:123,434,409...123,567,922
Ensembl chr 3:123,434,409...123,567,918
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:urine RGD PMID:15517379 RGD:1601309 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:increased expression:heart left ventricle RGD PMID:18070754 RGD:2292682 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO mRNA:decreased expression:adipose tissue RGD PMID:22187378 RGD:14390162 NCBI chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 no_association ISO
ISS
DNA:mutation: :p.M390R (human)
OMIM:601665
MouseDO PMID:14993910 RGD:1601314 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 onset ISO
ISS
DNA:SNPs
OMIM:601665
MouseDO PMID:17003356 RGD:1601311 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:decreased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:17184856 RGD:1625733 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:plasma
ClinVar Annotator: match by term: Obesity
ClinVar PMID:11840487 PMID:25741868, PMID:17151862 RGD:10059350 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP RGD PMID:18070754 RGD:2292682 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO RGD PMID:9367152 RGD:734661 NCBI chr  X:159,484,953...159,510,944
Ensembl chr  X:159,505,344...159,511,021
JBrowse link
G C3 complement C3 treatment IDA RGD PMID:23118029 RGD:7411625 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5ar1 complement C5a receptor 1 treatment IDA RGD PMID:23118029 RGD:7411625 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:88,126,519...88,136,063
Ensembl chr 2:88,126,667...88,135,410
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:31341224 RGD:15092077 NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
JBrowse link
G Canx calnexin ISO protein:increased expression:subcutaneous adipose tissue RGD PMID:18567819 RGD:2314284 NCBI chr10:35,800,942...35,833,939
Ensembl chr10:35,800,942...35,833,861
JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs RGD PMID:16752174 RGD:1625047 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Cartpt CART prepropeptide no_association ISO DNA:deletion, substitution: :1457delA, 1475A>G (human)
ClinVar Annotator: match by OMIM:601665
DNA:polymorphism:3' utr (human)
DNA:missense mutation:exon:729G>C, p.L34F (human)
OMIM
ClinVar
PMID:11522684 PMID:15326462, PMID:10574510, PMID:10805512, PMID:11522684 RGD:2313634, RGD:2313633, RGD:1625192 NCBI chr 2:30,125,249...30,127,408
Ensembl chr 2:30,125,249...30,127,269
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:22492718 RGD:6784520 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav2 caveolin 2 IEP RGD PMID:22492718 RGD:6784520 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638
JBrowse link
G Cckar cholecystokinin A receptor IAGP
ISO
DNA:deletion RGD PMID:9530226, PMID:9192855 RGD:7257724, RGD:734711 NCBI chr14:59,610,939...59,619,786
Ensembl chr14:59,611,434...59,619,783
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO
IEP
protein, mRNA:increased expression:plasma, fat
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:29035695, PMID:17803693, PMID:18469848 RGD:2306993, RGD:2307038 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 IEP RGD PMID:21862610 RGD:5683906 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased expression:serum RGD PMID:18469848 RGD:2307038 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:18492752 RGD:6483834 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
JBrowse link
G Cd36 CD36 molecule IEP
IMP
ISO
mRNA, protein:increased expression:liver, gastrocnemius
protein:increased expression:skeletal muscle, T-tubule
RGD PMID:20435456, PMID:25477422, PMID:23743348, PMID:22615812 RGD:6893497, RGD:11041132, RGD:11041118, RGD:6893542 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:29035695, PMID:21670556 RGD:7248753 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:21817098, PMID:20660932 RGD:5490592, RGD:5490970 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
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 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr17:36,451,031...37,157,882
Ensembl chr17:36,451,058...37,295,069
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:liver RGD PMID:23357529 RGD:10045356 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IEP RGD PMID:22194422 RGD:8552660 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO RGD PMID:16627576 RGD:2301355 NCBI chr18:40,702,027...40,716,901
Ensembl chr18:40,701,984...40,716,686
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 ClinVar PMID:29311637 NCBI chr 6:28,648,804...28,663,527
Ensembl chr 6:28,649,638...28,663,233
JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr19:15,195,514...15,239,827
Ensembl chr19:15,033,108...15,239,821
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 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297, PMID:16186410 RGD:1625390 NCBI chr18:63,082,861...63,108,450
Ensembl chr18:63,098,144...63,108,051
JBrowse link
G Cnr1 cannabinoid receptor 1 no_association ISO
IMP
DNA:polymorphism:exon:3813A>G (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :1256C>A, 1419+1G>C (human)
CTD PMID:18722357, PMID:17405839, PMID:19325539, PMID:19530697, PMID:17292652 RGD:1626325, RGD:2314630, RGD:2314629, RGD:1626326 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
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 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism:exon RGD PMID:17497175 RGD:2289713 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cox7c cytochrome c oxidase subunit 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:14,699,878...14,701,903
Ensembl chr 2:14,699,882...14,701,903
JBrowse link
G Cox8b cytochrome c oxidase, subunit VIIIb IDA RGD PMID:16027000 RGD:2301397 NCBI chr 1:213,648,787...213,650,247
Ensembl chr 1:213,648,787...213,650,247
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 PMID:16959692, PMID:11836301 RGD:2313645 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Cpe carboxypeptidase E no_association ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 PMID:23434795, PMID:9662053, PMID:7663508 RGD:1626184, RGD:1626181 NCBI chr16:26,906,716...27,014,811
Ensembl chr16:26,906,716...27,014,813
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP RGD PMID:15481768 RGD:2303517 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A IEP mRNA:decreased expression:liver RGD PMID:16751799 RGD:2311345 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:11564446 RGD:5508830 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:decreased expression:anterior pituitary gland (rat) RGD PMID:10600923 RGD:5508840 NCBI chr 2:25,141,471...25,153,334
Ensembl chr 2:25,141,471...25,153,334
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO DNA:SNP:CDS:861C>T (human) RGD PMID:14724656 RGD:1626226 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crp C-reactive protein disease_progression ISO
IEP
protein:increased expression:serum
mRNA:increased expression:liver (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:24042701, PMID:20660932, PMID:25612518 RGD:5490970, RGD:15045599 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 7:2,752,680...2,778,963
Ensembl chr 7:2,752,680...2,778,963
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 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Ctsc cathepsin C IEP RGD PMID:3705543 RGD:1599645 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Ctss cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:21156398 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:SNP: :p.T280M (human) RGD PMID:20523302 RGD:4891903 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:25016030 RGD:13673852 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Cyb5a cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317704 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
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 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 IEP protein:decreased expression:liver RGD PMID:18589557 RGD:2301455 NCBI chr 7:99,142,431...99,183,540
Ensembl chr 7:99,142,450...99,181,783
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 PMID:23954404, PMID:17049493 RGD:1626307 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dcn decorin IEP RGD PMID:17244723 RGD:1600551 NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
G Dcxr dicarbonyl and L-xylulose reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:109,906,119...109,909,696
Ensembl chr10:109,906,815...109,909,715
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25741868 PMID:28492532 PMID:32488064 NCBI chr16:71,090,096...71,120,713
Ensembl chr16:71,090,045...71,118,552
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Defb1 defensin beta 1 IEP mRNA:decreased expression:kidney RGD PMID:11340353 RGD:4892260 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 no_association
treatment
ISO RGD PMID:14569040, PMID:18183944, PMID:10802663 RGD:1625597, RGD:10401058, RGD:734536 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Dio2 iodothyronine deiodinase 2 no_association ISO RGD PMID:17077128 RGD:1626439 NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
JBrowse link
G Dip2c disco-interacting protein 2 homolog C ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr17:63,426,688...63,810,183
Ensembl chr17:63,635,086...63,808,464
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 8:55,091,232...55,164,636
Ensembl chr 8:55,091,235...55,162,421
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
IDA
protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) RGD PMID:15983225, PMID:17191082 RGD:7248449, RGD:7248552 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 IEP
ISO
mRNA:decreased expression:ventral tegmental area (rat)
DNA:polymorphism
DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple
RGD PMID:18477764, PMID:15939106, PMID:17108814 RGD:2311581, RGD:1600905, RGD:1600904 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd4 dopamine receptor D4 ISO
IEP
protein:decreased expression:kidney (rat) GAD
RGD
PMID:15118671, PMID:20810614 RGD:1331525, RGD:7248616 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Dusp1 dual specificity phosphatase 1 susceptibility ISO RGD PMID:16814733 RGD:2298673 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:87,009,798...87,015,996
Ensembl chr 1:87,009,730...87,016,005
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Edn1 endothelin 1 ISO DNA:polymorphism:exon:p.K198N (human) RGD PMID:17444275 RGD:1625065 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098442 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (mouse) RGD PMID:3624263 RGD:5131534 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ehd1 EH-domain containing 1 IEP RGD PMID:21365757 RGD:8661255 NCBI chr 1:221,644,867...221,667,242
Ensembl chr 1:221,644,867...221,667,239
JBrowse link
G Elovl6 ELOVL fatty acid elongase 6 ISO mRNA,protein:increased expression:liver: RGD PMID:31988048 RGD:21403676 NCBI chr 2:234,187,490...234,296,124
Ensembl chr 2:234,189,105...234,296,145
Ensembl chr 2:234,189,105...234,296,145
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Obesity, OMIM:601665;DNA:polymorphism
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by OMIM:601665
ClinVar
OMIM
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15677494 PMID:16025115 PMID:16607460 PMID:16609882 PMID:16968801 PMID:24033266, PMID:16025115 RGD:1601042 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 3:146,546,424...146,568,828
Ensembl chr 3:146,546,387...146,568,825
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26441656 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Esr1 estrogen receptor 1 ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:20667977, PMID:11095962, PMID:22230815 RGD:8553065, RGD:8553199 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:22230815 RGD:8553199 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Esrra estrogen related receptor, alpha no_association ISO RGD PMID:16755280 RGD:1625637 NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G F2 coagulation factor II ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:22841818, PMID:21210148, PMID:23628972 RGD:5147773, RGD:7387310 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII ISO protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:19329212, PMID:9258277, PMID:14513073, PMID:16739871 RGD:2312379, RGD:2312404, RGD:2312395, RGD:1625710 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19103437 PMID:20716455, PMID:15809662 RGD:1625726 NCBI chr 5:134,852,899...134,872,095
Ensembl chr 5:134,852,875...134,871,775
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced obesity RGD PMID:17058218 RGD:1626440 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fabp2 fatty acid binding protein 2 onset
no_association
ISO DNA:polymorphism:CDS:p.A54T (human) RGD PMID:15620432, PMID:17211557, PMID:14981227 RGD:1578458, RGD:1626407, RGD:1626400 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G Fabp3 fatty acid binding protein 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle RGD PMID:17515913 RGD:2307328 NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO RGD PMID:8910278 RGD:737747 NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
JBrowse link
G Fadd Fas associated via death domain IEP protein:increased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fads1 fatty acid desaturase 1 IEP protein:decreased expression:microsomes, liver RGD PMID:8446010 RGD:1625421 NCBI chr 1:226,234,034...226,249,118
Ensembl chr 1:226,234,074...226,249,138
JBrowse link
G Fanca FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancc FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682
JBrowse link
G Ffar4 free fatty acid receptor 4 susceptibility ISO ClinVar Annotator: match by term: Body mass index quantitative trait locus 10
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22343897 PMID:27068006 NCBI chr 1:256,786,124...256,804,156
Ensembl chr 1:256,786,124...256,804,156
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:24184811 PMID:26797127 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP
ISO
mRNA:increased expression:hypothalamus:
mRNA:increased expression:adipose tissue:
RGD PMID:21430024, PMID:21430024 RGD:10402094, RGD:10402094 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgg fibrinogen gamma chain IEP protein:decreased expression:plasma RGD PMID:22134356 RGD:11352709 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Fggy FGGY carbohydrate kinase domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29220483 NCBI chr 5:114,516,860...114,901,571
Ensembl chr 5:114,516,889...114,901,564
JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:12865419 RGD:1627574 NCBI chr 3:142,383,084...142,387,493
Ensembl chr 3:142,383,278...142,387,481
JBrowse link
G Foxc2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T(human) RGD PMID:15601967 RGD:1601218 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
G Foxo3 forkhead box O3 IEP
ISO
protein:increased expression:myocardium:
CTD Direct Evidence: marker/mechanism
CTD PMID:23954404, PMID:16467659 RGD:10402201 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:17496892 PMID:19079260 PMID:19079261 PMID:19151714 PMID:19918250 PMID:21076408 NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Fxn frataxin ISO DNA:deletion:exon (mouse) RGD PMID:17404227 RGD:2307045 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO
IEP
mRNA, protein:increased expression:white fat
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver
RGD PMID:15923630, PMID:19230846 RGD:2307347, RGD:2307340 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism RGD PMID:12080446 RGD:1626491 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
JBrowse link
G Gal galanin and GMAP prepropeptide no_association ISO protein:increased expression:plasma RGD PMID:15930442, PMID:11220530 RGD:1625748, RGD:1624334 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
G Galp galanin-like peptide IEP mRNA:decreased expression:arcuate nucleus RGD PMID:15256810 RGD:2313739 NCBI chr 1:71,352,417...71,374,457
Ensembl chr 1:71,352,419...71,373,605
JBrowse link
G Galr1 galanin receptor 1 no_association ISO RGD PMID:15930442 RGD:1625748 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase treatment IEP RGD PMID:27987997 RGD:13792668 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gas7 growth arrest specific 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr10:54,010,723...54,240,805
Ensembl chr10:54,126,486...54,236,476
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:20065960 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gck glucokinase IDA DNA, mRNA, protein:hypermethylation, increased expression:liver RGD PMID:21239437 RGD:7488967 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gckr glucokinase regulator no_association ISO RGD PMID:12739015 RGD:1626607 NCBI chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379, PMID:11118009 RGD:1625423 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8923850 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Obesity, age at onset of
ClinVar Annotator: match by OMIM:601665
OMIM
ClinVar
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO DNA:point mutation:exon:F279L RGD PMID:16511600 RGD:1625270 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Gip gastric inhibitory polypeptide ISO
IEP
associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human)
protein:increased expression:plasma (rat)
RGD PMID:3546047, PMID:19375579, PMID:18063845 RGD:2312551, RGD:2312588, RGD:2312547 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Gipr gastric inhibitory polypeptide receptor susceptibility ISO mRNA:reduced expression:fat tissue (human)
mRNA:splice variant:pancreatic islet (mouse)
DNA:polymorphism:intron 1 C>A (rs2302382) (human)
RGD PMID:12068290, PMID:17395281, PMID:17971513, PMID:19254363 RGD:737714, RGD:2312616, RGD:2312612, RGD:2312615 NCBI chr 1:80,063,047...80,073,223
Ensembl chr 1:80,063,049...80,073,223
JBrowse link
G Gja5 gap junction protein, alpha 5 IEP mRNA, protein:decreased expression:mesenteric artery RGD PMID:18324386 RGD:7207466 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 PMID:17361008 PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Glp1r glucagon-like peptide 1 receptor IEP mRNA:decreased expression:hypothalamus medial zone RGD PMID:15279492 RGD:1624351 NCBI chr20:9,586,075...9,626,228
Ensembl chr20:9,586,075...9,626,228
JBrowse link
G Glrx glutaredoxin IEP protein:increased expression:renal visceral adipose: RGD PMID:23404913 RGD:9686064 NCBI chr 2:2,606,032...2,615,944
Ensembl chr 2:2,605,996...2,615,944
JBrowse link
G Glul glutamate-ammonia ligase IDA
ISO
protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats
CTD Direct Evidence: marker/mechanism
CTD PMID:20882379, PMID:15481771 RGD:2301479 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity
associated with Polycystic Ovary Syndrome;DNA:polymorphism: :393T>C (human)
CTD
ClinVar
PMID:17062894 PMID:25741868, PMID:17062894 RGD:11568045 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15961981 PMID:16141801 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gnpda2 glucosamine-6-phosphate deaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079261 NCBI chr14:62,628,102...62,646,158
Ensembl chr14:62,628,111...62,646,110
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP protein:increased expression:skeletal muscle tissue, T-tubule (rat) RGD PMID:23743348 RGD:11041118 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP mRNA:increased expression:pancreatic islet RGD PMID:9032096 RGD:2313659 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpr12 G protein-coupled receptor 12 ISS OMIM:601665 MouseDO NCBI chr12:10,253,710...10,257,135
Ensembl chr12:10,254,951...10,257,130
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx3 glutathione peroxidase 3 IEP
ISO
mRNA:decreased expression:adipose tissue (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression, activity:plasma (mouse)
CTD PMID:11328671 PMID:19270708, PMID:19212806, PMID:18562625 RGD:2307430, RGD:2312633 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr 8:1,548,145...2,045,874
Ensembl chr 8:1,548,146...2,045,817
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:decreased expression:gonadal fat pad (mouse) RGD PMID:20150287 RGD:5687771 NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
JBrowse link
G Gstt1 glutathione S-transferase theta 1 IEP mRNA:decreased expression:liver RGD PMID:31063713 RGD:14701042 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Gucy2c guanylate cyclase 2C ISS OMIM:601665 MouseDO NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase IEP
ISO
protein:increased expression:skeletal muscle
CTD Direct Evidence: marker/mechanism
CTD PMID:20882379, PMID:16088331 RGD:2302228 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hcrt hypocretin neuropeptide precursor IEP mRNA:increased expression:perifornical nucleus RGD PMID:12560202 RGD:1358428 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA,protein:decreased expression:mononuclear cell, adipose tissue: RGD PMID:24086512 RGD:9681453 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hfe homeostatic iron regulator ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) RGD PMID:10705106 RGD:1601449 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum RGD PMID:12706940 RGD:1642704 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hk1 hexokinase 1 susceptibility IDA
ISO
RGD PMID:12524468, PMID:131232 RGD:1601528, RGD:1601527 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hk2 hexokinase 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:gastrocnemius
CTD PMID:20882379, PMID:11319725, PMID:16555472 RGD:2313227, RGD:1624365 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO RGD PMID:10742101 RGD:1601569 NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link
G Hmgb2 high mobility group box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr16:36,077,615...36,080,191
Ensembl chr16:36,077,617...36,080,191
Ensembl chr11:36,077,617...36,080,191
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 IEP protein:decreased activity:liver (rat) RGD PMID:1685984 RGD:2326155 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18334666 PMID:18375438 PMID:19171794 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hoxb5 homeo box B5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22484627 NCBI chr10:84,152,152...84,154,360
Ensembl chr10:84,152,152...84,154,360
JBrowse link
G Hp haptoglobin treatment ISO
IDA
IEP
protein:increased expression:serum
mRNA:increased expression:white fat
RGD PMID:15181041, PMID:19917068, PMID:17161237, PMID:11807829 RGD:1626346, RGD:9685197, RGD:1626339, RGD:1626349 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hrh3 histamine receptor H3 IDA RGD PMID:17189541 RGD:1626405 NCBI chr 3:175,474,310...175,479,395
Ensembl chr 3:175,473,078...175,479,395
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:17628001 PMID:21786805, PMID:15131764, PMID:15118671, PMID:16914598 RGD:1625073, RGD:1331525, RGD:1625071 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 resistance ISO
IEP
from transgenic mice expressing human HSD11B2
mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat
RGD PMID:15793240, PMID:17208436 RGD:1625083, RGD:1625081 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) RGD PMID:11319647 RGD:1626642 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B IEP protein:increase expression:arcuate nucleus RGD PMID:10564740 RGD:1626450 NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility
no_association
ISO DNA:polymorphism:promoter:-1438G>A
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16491645 PMID:17097612, PMID:16328014, PMID:16491645 RGD:1624369, RGD:1624370, RGD:1624369 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C susceptibility ISO DNA:polymorphism:promoter:-759C>T
CTD Direct Evidence: marker/mechanism
associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple
CTD PMID:17702092 PMID:19142110, PMID:15048662, PMID:17016522 RGD:1624991, RGD:1624982 NCBI chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
IEP
protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:submandibular gland (rat)
CTD PMID:11782876, PMID:20004360, PMID:20973827 RGD:4145463, RGD:4145329 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO RGD PMID:14969338 RGD:1626475 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Ifng interferon gamma IEP associated with Asthma;protein:increased expression:serum RGD PMID:19575934 RGD:2311494 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP mRNA:decreased expression:heart (rat) RGD PMID:11009458 RGD:12904882 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11528401 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22537059, PMID:17259371, PMID:17426323 RGD:1626479, RGD:1626478 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP mRNA, protein:decreased expression:pancreatic fat pad RGD PMID:22067319 RGD:10402755 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO protein:increased expression:liver: RGD PMID:15685173 RGD:10045952 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il10 interleukin 10 IEP
ISO
protein:increase expression:serum RGD PMID:18787467, PMID:28843383 RGD:2308945, RGD:14975146 NCBI chr13:47,738,933...47,743,392 <