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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



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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 chr 9:21,065,770...21,074,462
Ensembl chr 9:21,065,846...21,072,991
JBrowse link
G TFRC transferrin receptor ISO protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
Abdominal Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome, protection against OMIM
ClinVar
PMID:16721486 PMID:28492532 NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 OMIM
ClinVar
PMID:24827035 PMID:25741868 NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488
JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica OMIM
ClinVar
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522
JBrowse link
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant OMIM
ClinVar
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
JBrowse link
BILE ACID CONJUGATION DEFECT 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Bile acid conjugation defect 1 OMIM
ClinVar
PMID:12704386 PMID:23415802 PMID:25741868 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389
JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS OMIM
ClinVar
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:105,044,232...105,093,663
Ensembl chr  X:105,043,556...105,091,795
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:8,898,536...8,908,057
Ensembl chr 6:8,898,520...8,907,997
JBrowse link
choline deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr31:38,099,100...38,111,432 JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346
JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA | ClinVar Annotator: match by term: Chops syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28166811 More... NCBI chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome OMIM
ClinVar
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr25:42,060,103...42,208,326
Ensembl chr25:42,060,991...42,208,054
JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,384,007...2,415,187
Ensembl chr13:2,385,611...2,498,364
JBrowse link
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,509,699...4,569,500
Ensembl chr13:4,510,003...4,579,846
JBrowse link
G AZIN1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040
JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,602,688...4,684,138
Ensembl chr13:4,603,020...4,682,189
JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,801,049...4,811,565
Ensembl chr13:4,805,577...4,811,282
JBrowse link
G DCAF13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,835,147...4,860,706
Ensembl chr13:4,834,958...4,860,247
JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:5,542,474...5,559,433
Ensembl chr13:5,542,425...5,571,968
JBrowse link
G DPYS dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463
JBrowse link
G FBXO43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,037,270...2,057,465
Ensembl chr13:2,038,408...2,052,741
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115
JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096
JBrowse link
G KCNS2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:622,676...628,301
Ensembl chr13:623,424...624,857
JBrowse link
G KLF10 Kruppel like factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,216,745...4,223,708
Ensembl chr13:4,218,084...4,223,691
JBrowse link
G LRP12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:5,670,932...5,754,076
Ensembl chr13:5,674,649...5,744,740
JBrowse link
G MIR599 microRNA mir-599 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr13:1,538,928...1,539,022
Ensembl chr13:1,538,928...1,539,022
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G NCALD neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,367,036...3,678,505
Ensembl chr13:3,369,570...3,512,566
JBrowse link
G NIPAL2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:427,216...493,861
Ensembl chr13:428,752...493,817
JBrowse link
G ODF1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,137,119...4,146,557
Ensembl chr13:4,137,257...4,146,555
JBrowse link
G OSR2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:1,019,167...1,031,622
Ensembl chr13:1,023,879...1,031,225
JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,563,698...2,580,610
Ensembl chr13:2,564,065...2,580,368
JBrowse link
G POLR2K RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,057,540...2,060,712
Ensembl chr13:2,057,628...2,060,312
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:361,095...398,214
Ensembl chr13:361,157...396,628
JBrowse link
G RGS22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:1,897,525...2,026,622
Ensembl chr13:1,864,010...2,010,594
JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,928,518...5,499,258
Ensembl chr13:4,927,121...5,496,629
JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,142,126...2,170,530
Ensembl chr13:2,142,876...2,169,944
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
JBrowse link
G SLC25A32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,821,065...4,835,113
Ensembl chr13:4,648,759...4,835,023
JBrowse link
G SNX31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,425,143...2,497,798
Ensembl chr13:2,385,611...2,498,364
JBrowse link
G SPAG1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,065,726...2,127,199 JBrowse link
G STK3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:647,363...920,887
Ensembl chr13:648,216...920,847
JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,887,408...4,023,364
Ensembl chr13:3,879,220...4,023,955
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO
IAGP
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome
Trapped Neutrophil Syndrome
OMIM
ClinVar
OMIA
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225
JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,729,404...2,764,422 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
JBrowse link
G ZNF706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,967,884...2,978,040
Ensembl chr13:2,969,983...2,976,279
JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBLIF cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency OMIM
ClinVar
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
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 dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency OMIM
ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 More... NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency OMIM
ClinVar
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
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 PMID:23033978 PMID:25741868 PMID:28492532 PMID:29209020 NCBI chr12:39,857,331...39,883,471
Ensembl chr12:39,857,392...39,875,399
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: PHIP-Related Disorder OMIM
ClinVar
PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 More... NCBI chr12:39,899,738...40,015,795
Ensembl chr12:39,904,603...40,032,194
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:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775
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 More... NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G TTPA alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E OMIM
ClinVar
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
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 ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr15:527,726...543,364
Ensembl chr15:526,067...543,638
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
JBrowse link
G SLC14A1 solute carrier family 14 member 1 ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr 7:45,378,744...45,409,068
Ensembl chr 7:45,380,239...45,408,829
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr12:12,632,233...12,644,669
Ensembl chr12:12,634,194...12,644,667
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:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
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 3:26,521,214...26,556,065 JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARM1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr 9:42,620,878...42,639,662
Ensembl chr 9:42,622,538...42,639,590
JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption OMIM
ClinVar
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr 9:42,638,670...42,650,241
Ensembl chr 9:42,643,328...42,650,188
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 chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO DNA:deletions, snps:multiple (human) RGD PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
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 OMIM
ClinVar
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 9:48,437,893...48,444,103
Ensembl chr 9:48,438,007...48,440,736
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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,574,406...36,627,598
Ensembl chr31:36,553,380...36,620,043
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,715,529...38,799,353
Ensembl chr31:38,678,184...38,796,521
JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,855,323...37,879,816
Ensembl chr31:37,844,109...37,879,741
JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296
JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,291,853...36,355,472
Ensembl chr31:36,274,539...36,348,657
JBrowse link
G C31H21orf58 chromosome 31 C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,567,515...39,576,238
Ensembl chr31:39,567,614...39,574,285
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria due to cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive OMIM
ClinVar
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... NCBI chr31:37,230,900...37,247,170 JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,915,872...38,957,484 JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,433,174...39,448,051 JBrowse link
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,307,070...37,310,262
Ensembl chr31:37,307,093...37,310,247
JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,099,100...38,111,432 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,028,087...38,037,173 JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,543,448...37,643,534
Ensembl chr31:37,503,052...37,643,505
JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,084,861...38,094,743 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G LOC100855866 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,393,324...38,394,235 JBrowse link
G LOC100855886 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,396,048...38,396,735 JBrowse link
G LOC100856547 PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,494,608...38,513,997 JBrowse link
G LOC102151833 keratin-associated protein 10-7-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,306,220...38,307,536 JBrowse link
G LOC610875 keratin-associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,034,027...36,035,010 JBrowse link
G LOC610882 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,039,505...36,040,735 JBrowse link
G LOC610887 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,042,743...36,043,443 JBrowse link
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,260,952...38,265,951
Ensembl chr31:38,261,199...38,261,972
JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,507,714...39,559,855
Ensembl chr31:39,507,729...39,561,674
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria ClinVar PMID:10484769 PMID:15714522 PMID:24033266 PMID:28492532 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,118,201...37,131,035
Ensembl chr31:37,118,247...37,130,810
JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,025,744...39,275,239
Ensembl chr31:39,025,731...39,275,239
JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820
JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809
JBrowse link
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,686,002...37,710,059
Ensembl chr31:37,685,492...37,707,767
JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,189,753...37,223,844
Ensembl chr31:37,192,992...37,220,926
JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,813,252...38,821,656
Ensembl chr31:38,813,255...38,818,734
JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,220,532...36,285,752
Ensembl chr31:36,223,507...36,286,699
JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,000,181...38,012,882 JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600
JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,732,567...37,779,319
Ensembl chr31:37,732,618...37,746,376
JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,652,584...37,670,396
Ensembl chr31:37,652,863...37,667,895
JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,771,829...36,811,067
Ensembl chr31:36,789,571...36,812,050
JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,455,130...37,466,829 JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,815,384...36,889,563
Ensembl chr31:36,828,382...36,889,520
JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,559,175...38,593,152
Ensembl chr31:38,558,629...38,591,996
JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,467,365...39,475,061
Ensembl chr31:39,459,176...39,475,074
JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,472,076...38,484,358 JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,665,647...36,668,423
Ensembl chr31:36,665,514...36,668,440
JBrowse link
G TFF3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,638,762...36,641,696 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188
JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,201,075...38,224,076 JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,263,265...37,276,710 JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,735,790...36,778,405
Ensembl chr31:36,735,835...36,778,405
JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,432,855...38,470,202
Ensembl chr31:38,433,332...38,470,136
JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,452,008...36,510,649
Ensembl chr31:36,449,660...36,510,683
JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788
JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,559,933...39,565,775
Ensembl chr31:39,561,849...39,565,074
JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,378,200...36,394,894
Ensembl chr31:36,379,566...36,394,911
JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr31:37,230,900...37,247,170 JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,490,012...26,561,542 JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:35,730,394...36,060,154
Ensembl chr 5:35,730,394...36,058,945
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315
JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:40,644,899...40,670,549
Ensembl chr 7:40,644,234...40,678,326
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25546394 PMID:25741868 PMID:28492532 More... NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:24,535,870...24,740,998
Ensembl chr17:24,535,897...24,740,889
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 9:6,052,837...6,079,409
Ensembl chr 9:6,052,840...6,079,295
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr24:37,268,781...37,271,581
Ensembl chr24:37,268,808...37,270,304
JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:42,523,529...42,537,012
Ensembl chr 6:42,523,769...42,535,728
JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:43,226,170...43,325,026
Ensembl chr 9:43,227,187...43,322,545
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
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
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417
JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:55,389,902...55,400,241
Ensembl chr18:55,389,897...55,400,240
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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 chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25124994 PMID:25741868 PMID:26242988 More... NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:7,931,786...8,012,484
Ensembl chr17:7,934,739...8,178,707
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:20839240 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 8:63,436,710...63,453,354
Ensembl chr 8:63,323,933...63,453,708
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
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 chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076
JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:9,949,845...10,023,997
Ensembl chr16:9,963,536...10,024,502
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529
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 term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
JBrowse link
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant OMIM
ClinVar
PMID:5453458 PMID:17951468 NCBI chr 5:70,598,743...70,637,273
Ensembl chr 5:70,599,284...70,637,017
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 chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G CBS cystathionine beta-synthase susceptibility ISO associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
ClinVar Annotator: match by term: Hyperhomocysteinemia
RGD
ClinVar
PMID:7762555 PMID:10704624 PMID:12686134 PMID:16205833 PMID:16479318 More... RGD:40903036 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC106557449 alveolar macrophage chemotactic factor-like ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:10459572 PMID:10679944 PMID:12471611 PMID:15226090 PMID:16317120 More... RGD:10449400 RGD:1601421 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240
JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr 9:42,638,670...42,650,241
Ensembl chr 9:42,643,328...42,650,188
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385
JBrowse link
G LOC477072 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G TNF tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 ClinVar Annotator: match by term: Microcytic anemia with liver iron overload ClinVar PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
JBrowse link
G STEAP3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:30,745,910...30,795,310
Ensembl chr19:30,747,921...30,795,338
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 OMIM NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STEAP3 STEAP3 metalloreductase ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar
PMID:22031863 NCBI chr19:30,745,910...30,795,310
Ensembl chr19:30,747,921...30,795,338
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 NCBI chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752
JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775
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 More... NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 OMIM
ClinVar
PMID:17033621 PMID:17033625 PMID:21050253 PMID:25741868 PMID:28492532 NCBI chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
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 OMIM
ClinVar
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 8:70,800,435...70,807,835 JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286
JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647
JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339
JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645
JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741
JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
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 IAGP
ISO
Intestinal cobalamin malabsorption, AMN-related
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
OMIA
ClinVar
PMID:1848001 PMID:1941244 PMID:1999430 PMID:6741523 PMID:11023127 More... NCBI chr 8:70,800,435...70,807,835 JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO protein:increased excretion:urine:
DNA:polymorphisms, missense mutations, splice sites:exon,intron:
RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
JBrowse link
G CUBN cubilin ISO
IAGP
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
Intestinal cobalamin malabsorption, CUBN-related
OMIM
ClinVar
OMIA
PMID:1848001 PMID:1941244 PMID:1999430 PMID:10080186 PMID:10493414 More... NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type OMIM
ClinVar
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 8:70,800,435...70,807,835 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: Intestinal hypomagnesemia 1 OMIM
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:83,250,870...83,437,044
Ensembl chr 1:83,308,788...83,436,644
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr30:16,465,546...16,579,874
Ensembl chr30:16,466,234...16,579,594
JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)
RGD PMID:15637178 PMID:23776592 RGD:11252172 RGD:2315589 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G C1QA complement C1q A chain ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760 RGD:11352819 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606 RGD:11041634 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
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 chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
JBrowse link
G IL6 interleukin 6 ISO associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:altered activity:intestinal villus of duodenum (rat)
mRNA:increased expression:duodenal mucosa (rat)
RGD PMID:10095770 PMID:18549630 RGD:12904038 RGD:12910699 NCBI chr13:38,398,445...38,441,128
Ensembl chr13:38,400,591...38,441,015
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
JBrowse link
G LOC477072 serotransferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia
RGD
ClinVar
PMID:11703331 PMID:12752114 PMID:16398662 PMID:28492532 RGD:1601513 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
JBrowse link
G LOC607874 cystatin-C-like ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr23:49,562...53,618 JBrowse link
G PON1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586 RGD:11553834 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:nasal cavity olfactory epithelium
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
RGD
CTD
PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 More... RGD:11062096 RGD:11062104 RGD:11062105 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr10:27,393,650...27,435,893
Ensembl chr10:27,397,123...27,435,908
JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G GPX1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
Leptin Receptor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEPR leptin receptor ISO ClinVar Annotator: match by term: LEPR-Related Disorders | ClinVar Annotator: match by term: Leptin receptor deficiency OMIM
ClinVar
PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 More... NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LEPROT leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:28492532 NCBI chr 5:44,859,886...44,877,144
Ensembl chr 5:44,845,581...44,877,144
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732
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 chr31:37,230,900...37,247,170 JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NEFM neurofilament medium chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570
JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome OMIM
ClinVar
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:19,662,132...19,680,223
Ensembl chr  X:19,650,343...19,680,221
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2H1orf167 chromosome 2 C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 2:84,457,743...84,477,328 JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25736335 PMID:28492532 NCBI chr 2:84,410,740...84,443,874
Ensembl chr 2:84,413,612...84,445,033
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:23141461 PMID:25234635 PMID:28572511 PMID:30651581 PMID:33845046 NCBI chr 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654
JBrowse link
G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr17:2,216,402...2,310,398
Ensembl chr17:2,216,391...2,310,174
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715
JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar
PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 PMID:16311595 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113
JBrowse link
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 NCBI chr19:51,154,227...51,177,950
Ensembl chr19:51,154,249...51,177,836
JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive OMIM
ClinVar
PMID:25741868 PMID:29396438 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 OMIM
ClinVar
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr19:51,154,227...51,177,950
Ensembl chr19:51,154,249...51,177,836
JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL19A1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr12:32,452,653...32,760,310
Ensembl chr12:32,449,744...32,755,226
JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr12:32,763,782...32,847,456
Ensembl chr12:32,764,496...32,847,574
JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar
PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 More... NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578
JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG OMIM
ClinVar
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654
JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia OMIM
ClinVar
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 More... NCBI chr10:27,393,650...27,435,893
Ensembl chr10:27,397,123...27,435,908
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 chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651
JBrowse link
G ADCY3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr17:19,153,732...19,231,943
Ensembl chr17:19,154,571...19,232,411
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G APLN apelin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:15970339 PMID:19756893 RGD:1600932 RGD:2313938 NCBI chr  X:100,863,360...100,873,105 JBrowse link
G AQP7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr11:50,474,007...50,488,191 JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr30:36,058,932...36,109,206
Ensembl chr30:35,927,233...36,108,381
JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CCK cholecystokinin ISO protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) RGD PMID:17443025 RGD:1625798 NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198
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 chr15:61,321,588...61,422,608
Ensembl chr15:61,321,227...61,414,789
JBrowse link
G CTNNBL1 catenin beta like 1 no_association
susceptibility
ISO DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) RGD PMID:19228371 PMID:19245693 RGD:9850251 RGD:9850253 NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance RGD PMID:12883487 RGD:1626305 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
JBrowse link
G KSR2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr26:13,986,172...14,394,236
Ensembl chr26:13,987,827...14,395,111
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LPIN1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr17:8,348,860...8,480,447
Ensembl chr17:8,348,886...8,478,863
JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635 RGD:1600750 RGD:1600755 NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079
JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr10:24,526,687...24,560,948
Ensembl chr10:24,526,693...24,559,836
JBrowse link
G NPPB natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G NPY2R neuropeptide Y receptor Y2 ISO DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only RGD PMID:15855352 RGD:1642381 NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 onset ISO protein:substitution:Y722C;severe early-onset RGD PMID:16702999 RGD:1626135 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Morbid obesity ClinVar PMID:9753710 PMID:10690291 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:28492532 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr33:29,733,860...29,740,836
Ensembl chr33:29,735,351...29,741,128
JBrowse link
MORM Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: MORM syndrome OMIM
ClinVar
PMID:19668215 PMID:25741868 PMID:28492532 NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC30A2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Zinc deficiency, transient neonatal OMIM
ClinVar
PMID:17065149 PMID:22733820 PMID:25741868 NCBI chr 2:73,922,443...73,929,924
Ensembl chr 2:73,921,878...73,928,874
JBrowse link
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr13:38,398,445...38,441,128
Ensembl chr13:38,400,591...38,441,015
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
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 chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism
Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD
RGD
PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AACS acetoacetyl-CoA synthetase ISO mRNA:altered expression:thalamus, hypothalamus (rat) RGD PMID:19219059 RGD:2326191 NCBI chr26:4,852,582...4,903,329
Ensembl chr26:4,452,371...4,961,436
JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 susceptibility
disease_progression
ISO DNA:SNP:exon:p.R230C (rs9282541) (human)
mRNA:increased expression:liver (rat)
RGD PMID:17287470 PMID:25612518 RGD:15045599 RGD:1601092 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 disease_progression ISO mRNA:increased expression:liver (rat) RGD PMID:25612518 RGD:15045599 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO RGD PMID:15331430 RGD:1601095 NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr26:17,763,531...17,895,319
Ensembl chr26:17,747,362...17,894,400
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACE angiotensin I converting enzyme no_association ISO protein:increased expression:liver RGD PMID:17164796 PMID:19361967 RGD:1601115 RGD:2325227 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G ACLY ATP citrate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 9:20,929,530...20,974,200
Ensembl chr 9:20,929,614...20,973,663
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 chr17:243,757...251,151
Ensembl chr17:243,713...250,758
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:adipose tissue, liver
mRNA:decreased expression:subcutaneous adipose tissue
CTD
RGD
PMID:1543733 PMID:16788709 PMID:20882379 RGD:1625735 RGD:1625737 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G ADA adenosine deaminase ISO protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chr31:38,715,529...38,799,353
Ensembl chr31:38,678,184...38,796,521
JBrowse link
G ADCY3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 ClinVar PMID:29311636 PMID:29311637 NCBI chr17:19,153,732...19,231,943
Ensembl chr17:19,154,571...19,232,411
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
associated with myocardial infarction; protein:decreased expression:plasma
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with Diabetes Mellitus, Type 2
CTD
RGD
PMID:10092513 PMID:11549668 PMID:14617771 PMID:16092047 PMID:18303100 More... RGD:14975146 RGD:1599149 RGD:2313239 RGD:5686809 RGD:5686813 RGD:8695927 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:decreased expression:lymphocyte
mRNA:increased expression:liver
RGD PMID:16483885 PMID:17391161 RGD:1625761 RGD:1625763 NCBI chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment
severity
ISO associated with non-alcoholic fatty liver disease
mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
RGD PMID:16483885 PMID:23838384 PMID:30131158 PMID:30225267 RGD:1625763 RGD:21406435 RGD:25824942 RGD:8695926 NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467
JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G ADORA1 adenosine A1 receptor ISO protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women RGD PMID:16507638 RGD:1625369 NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051
JBrowse link
G ADRA2B adrenoceptor alpha 2B ISO RGD PMID:10404816 RGD:1300265 NCBI chr17:34,615,121...34,618,480
Ensembl chr17:34,615,096...34,656,791
JBrowse link
G ADRB1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684
JBrowse link
G ADRB2 adrenoceptor beta 2 no_association
susceptibility
ISO DNA:polymorphisms: :p.R16G, p.Q27E OMIM
RGD
PMID:17027833 PMID:17221209 RGD:1601119 RGD:1601122 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G ADRB3 adrenoceptor beta 3 no_association ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
ClinVar Annotator: match by term: Obesity
OMIM
RGD
ClinVar
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 More... RGD:5684409 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
JBrowse link
G AFF4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190
JBrowse link
G AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr10:1,791,273...1,807,710
Ensembl chr10:1,792,733...1,807,610
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:decreased expression:plasma (human) RGD PMID:22761461 PMID:23046363 RGD:7243247 RGD:7243250 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AGRP agouti related neuropeptide ISO ClinVar Annotator: match by term: Obesity, late-onset OMIM
ClinVar
PMID:11602360 PMID:12213871 PMID:15054840 NCBI chr 5:81,924,249...81,926,510
Ensembl chr 5:81,925,055...81,925,845
JBrowse link
G AGT angiotensinogen susceptibility ISO DNA:polymorphism: :p.T174M
DNA:polymorphism: :p.M235T
RGD PMID:16514903 PMID:16713443 RGD:1601142 RGD:1601143 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:15793237 RGD:2313554 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G AHI1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 PMID:30813227 PMID:31306034 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:serum RGD PMID:17011519 PMID:19228823 RGD:1625793 RGD:2313809 NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716
JBrowse link
G AK1 adenylate kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:15855311 RGD:1601154 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G AKAP1 A-kinase anchoring protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chr 9:31,884,028...31,908,142
Ensembl chr 9:31,885,478...31,904,386
JBrowse link
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO protein:decreased expression:plantaris (rat)
protein:decreased activity:rectus abdominis (human)
RGD PMID:12663464 PMID:17923673 PMID:18508911 RGD:2313320 RGD:2313406 RGD:2313409 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131
JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr20:52,722...99,180
Ensembl chr20:61,349...99,160
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO mRNA:increased expression:adipose tissue, fat cell RGD PMID:18780776 PMID:20978234 RGD:5509594 RGD:5509628 NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO mRNA:increased expression:peripheral blood mononuclear cell (human)
mRNA:increased expression:adipose tissue (mouse)
RGD PMID:17379835 PMID:19596146 RGD:2313884 RGD:2313913 NCBI chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836
JBrowse link
G AMH anti-Mullerian hormone ISO protein:decreased expression:serum RGD PMID:17109858 RGD:1601182 NCBI chr20:56,785,960...56,788,815 JBrowse link
G ANGPTL4 angiopoietin like 4 resistance ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:17210919 PMID:28842503 RGD:1625353 NCBI chr20:52,942,090...52,948,126
Ensembl chr20:52,942,259...52,947,475
JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 2:6,230,466...6,402,360 JBrowse link
G AOC3 amine oxidase copper containing 3 ISO RGD PMID:17977742 RGD:2313916 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G APCDD1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 7:76,336,502...76,368,695
Ensembl chr 7:76,336,547...76,367,267
JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:100,863,360...100,873,105 JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression RGD PMID:9933608 PMID:12725089 RGD:1601185 RGD:2313959 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:increased expression:serum RGD PMID:9002300 PMID:9933608 RGD:1601191 RGD:2313959 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOB apolipoprotein B ISO associated with Insulin Resistance;protein:increased expression:plasma RGD PMID:16752182 PMID:19592617 RGD:1601202 RGD:2313974 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO mRNA:increased expression:liver RGD PMID:8781289 RGD:1626278 NCBI chr27:37,102,728...37,114,084
Ensembl chr27:37,103,016...37,114,556
JBrowse link
G APOC1 apolipoprotein C1 ISO RGD PMID:11723061 RGD:2313951 NCBI chr 1:110,520,177...110,522,563
Ensembl chr 1:110,520,198...110,631,412
JBrowse link
G APOC2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOD apolipoprotein D ISO DNA:polymorphism RGD PMID:7913935 RGD:2311179 NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289
JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9002300 PMID:17192461 PMID:20975297 RGD:1601191 RGD:1601230 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G APP amyloid beta precursor protein treatment ISO mRNA,protein:increased expression:adipocyte,plasma: RGD PMID:19672057 RGD:10054260 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G AQP7 aquaporin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325777 NCBI chr11:50,474,007...50,488,191 JBrowse link
G AR androgen receptor susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG
DNA:repeats: :GGN, CAG
RGD PMID:12532157 PMID:18805913 RGD:1601246 RGD:2306771 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 onset ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr30:36,058,932...36,109,206
Ensembl chr30:35,927,233...36,108,381
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO protein:decreased expression:hypothalamus, cilium (mouse) RGD PMID:22581473 RGD:11553936 NCBI chr33:1,698,360...1,762,846
Ensembl chr33:1,698,363...1,761,641
JBrowse link
G ASIP agouti signaling protein susceptibility ISO DNA, mRNA:deletion, insertions, increased expression: multiple organs
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:1473152 PMID:7987393 PMID:8146154 PMID:25447408 PMID:25448685 More... RGD:1625724 NCBI chr24:23,338,757...23,393,913
Ensembl chr24:23,354,888...23,393,896
JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:25822172 RGD:14696745 NCBI chr22:60,898,801...60,904,223
Ensembl chr22:60,898,833...60,904,223
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta treatment ISO RGD PMID:26880535 RGD:13782133 NCBI chr10:870,405...876,937
Ensembl chr10:870,392...909,161
JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma ISO RGD PMID:19549744 RGD:14696798 NCBI chr 2:28,306,857...28,325,149
Ensembl chr 2:28,306,857...28,325,116
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:27874268 RGD:13792665 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722
JBrowse link
G ATP5MC2 ATP synthase membrane subunit c locus 2 ISO RGD PMID:26709097 RGD:11535661 NCBI chr27:1,569,776...1,577,713 JBrowse link
G ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr15:13,801,202...13,832,146
Ensembl chr15:13,801,631...13,829,610
JBrowse link
G ATRN attractin ISO RGD PMID:10086355 RGD:734623 NCBI chr24:17,698,238...17,859,810
Ensembl chr24:17,702,282...17,859,737
JBrowse link
G B2M beta-2-microglobulin ISO protein:increased expression:urine RGD PMID:15517379 RGD:1601309 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G B9D2 B9 domain containing 2 severity ISO protein:increased expression:adipose tissue
protein:increased expression:platelet
associated with hypertension;protein:increased expression:blood
RGD PMID:15944724 PMID:16253647 PMID:16477387 RGD:1601561 RGD:1601563 RGD:1601579 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:increased expression:heart left ventricle RGD PMID:18070754 RGD:2292682 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO mRNA:decreased expression:adipose tissue RGD PMID:22187378 RGD:14390162 NCBI chr 2:17,453,628...17,459,812
Ensembl chr 2:17,455,243...17,462,346
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 no_association ISO DNA:mutation: :p.M390R (human) RGD PMID:14993910 RGD:1601314 NCBI chr18:50,816,126...50,835,354 JBrowse link
G BBS2 Bardet-Biedl syndrome 2 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr 2:59,650,439...59,705,728
Ensembl chr 2:59,677,216...59,705,730
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus RGD PMID:17184856 RGD:1625733 NCBI chr 8:65,017,655...65,028,899 JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:18070754 RGD:2292682 NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
JBrowse link
G BRS3 bombesin receptor subtype 3 ISO RGD PMID:9367152 RGD:734661 NCBI chr  X:106,838,893...106,844,877
Ensembl chr  X:106,838,890...106,843,728
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23118029 RGD:7411625 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G C5AR1 complement C5a receptor 1 treatment ISO RGD PMID:23118029 RGD:7411625 NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401
JBrowse link
G CA3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr29:31,935,192...31,945,585
Ensembl chr29:31,935,172...31,980,579
JBrowse link
G CADM2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:31341224 RGD:15092077 NCBI chr31:1,872,005...2,931,942
Ensembl chr31:1,879,585...2,931,452
JBrowse link
G CANX calnexin ISO protein:increased expression:subcutaneous adipose tissue RGD PMID:18567819 RGD:2314284 NCBI chr11:1,966,612...1,998,620
Ensembl chr11:1,927,888...1,998,604
JBrowse link
G CAPN10 calpain 10 ISO DNA:SNPs RGD PMID:16752174 RGD:1625047 NCBI chr25:50,555,402...50,566,132
Ensembl chr25:50,555,425...50,566,135
JBrowse link
G CARTPT CART prepropeptide no_association ISO DNA:polymorphism:3' utr (human)
DNA:deletion, substitution: :1457delA, 1475A>G (human)
ClinVar Annotator: match by term: Obesity
OMIM
RGD
ClinVar
PMID:10574510 PMID:10805512 PMID:11522684 PMID:15326462 PMID:25741868 RGD:2313633 RGD:2313634 NCBI chr 2:54,865,043...54,867,410
Ensembl chr 2:54,865,298...54,867,158
JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:22492718 RGD:6784520 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CAV2 caveolin 2 ISO RGD PMID:22492718 RGD:6784520 NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469
JBrowse link
G CCKAR cholecystokinin A receptor ISO DNA:deletion RGD PMID:9192855 PMID:9530226 RGD:7257724 RGD:734711 NCBI chr 3:84,010,700...84,019,066
Ensembl chr 3:84,010,205...84,021,293
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum
protein, mRNA:increased expression:plasma, fat
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17803693 PMID:18469848 PMID:29035695 RGD:2306993 RGD:2307038 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO RGD PMID:21862610 RGD:5683906 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum RGD PMID:18469848 RGD:2307038 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G CD36 CD36 molecule ISO mRNA, protein:increased expression:liver, gastrocnemius
protein:increased expression:skeletal muscle, T-tubule
RGD PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 RGD:11041118 RGD:11041132 RGD:6893497 RGD:6893542 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD40 CD40 molecule treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21670556 PMID:29035695 RGD:7248753 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:20660932 PMID:21817098 RGD:5490592 RGD:5490970 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
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 chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chr35:19,138,904...19,802,545
Ensembl chr35:19,138,918...19,929,429
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:liver RGD PMID:23357529 RGD:10045356 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:22194422 RGD:8552660 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO RGD PMID:16627576 RGD:2301355 NCBI chr11:5,512,996...5,524,556
Ensembl chr11:5,371,378...5,524,562
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chr 1:118,846,252...118,851,045