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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 chrNW_004936490:16,645,116...16,652,310 JBrowse link
G Tfrc transferrin receptor ISO protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chrNW_004936784:696,738...728,385 JBrowse link
Abdominal Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chrNW_004936557:3,358,809...3,403,461 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 chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chrNW_004936477:4,881,230...5,488,208 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 chrNW_004936558:3,300,941...3,357,595 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004936599:633,501...639,412 JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G LOC101968913 microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome, protection against OMIM
ClinVar
PMID:16721486 PMID:28492532 NCBI chrNW_004936520:3,337,726...3,417,818 JBrowse link
G Lpl lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Tlr2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chrNW_004936576:522,234...531,660 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 chrNW_004936474:11,824,692...11,846,355 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 chrNW_004936661:2,436,702...2,444,758 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 chrNW_004936470:7,836,612...7,842,262 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 chrNW_004936549:7,015,595...7,016,246 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 chrNW_004936606:4,555,034...4,561,961 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 chrNW_004936624:2,124,479...2,312,847 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 chrNW_004936905:419,478...427,335 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 chrNW_004937067:194,375...246,607 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 chrNW_004936524:9,536,032...9,544,901 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 chrNW_004936691:716,723...767,960 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 chrNW_004936543:794,837...811,637 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 chrNW_004936543:828,029...837,998 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 chrNW_004936659:520,181...565,496 JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chrNW_004936500:143,078...160,318 JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chrNW_004936497:9,512,350...9,619,250 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 chrNW_004936647:2,242,476...2,342,409 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 chrNW_004936525:6,539,234...6,690,457 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 chrNW_004936470:42,755,799...42,782,479 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,626,523...40,675,435 JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,801,943...40,832,543 JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,506,596...40,590,537 JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,381,215...40,392,105 JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,321,103...40,357,001 JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,564,431...39,637,394 JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,091,516...43,100,973 JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,416,254...40,454,717 JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,856,683...41,961,666 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 chrNW_004936470:44,455,117...44,460,193 JBrowse link
G Klf10 Kruppel like factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,980,487...40,986,880 JBrowse link
G LOC101960808 dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,664,573...39,671,532 JBrowse link
G LOC101970194 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,269,744...43,280,886 JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,459,395...39,542,125 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 chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,573,238...41,852,349 JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,588,211...44,645,860 JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,069,033...41,078,020 JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,024,497...44,032,429 JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,628,890...42,670,311 JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,079,377...43,083,251 JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,676,798...44,710,397 JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,135,410...43,225,788 JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,725,092...40,270,268 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 chrNW_004936470:42,965,790...43,007,487 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,354,387...41,401,308 JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,357,066...40,370,514 JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,684,346...42,743,001 JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,015,688...43,078,158 JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,159,449...44,436,295 JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,222,782...41,345,755 JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome OMIM
ClinVar
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chrNW_004936470:43,281,905...43,952,523 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 chrNW_004936470:42,444,671...42,470,548 JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:38,432,894...38,857,656 JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,245,657...42,253,492 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 chrNW_004936581:2,919,793...2,933,743 JBrowse link
congenital leptin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968976 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 chrNW_004936479:15,394,966...15,411,334 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 chrNW_004936591:1,619,446...1,643,667 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 chrNW_004936706:940,585...952,484 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 chrNW_004936641:932,291...980,440 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 chrNW_004936510:11,220,194...11,242,485 JBrowse link
G LOC101978201 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 chrNW_004936510:11,076,790...11,198,483 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 chrNW_004936721:1,552,312...1,602,360 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 chrNW_004936624:2,124,479...2,312,847 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 chrNW_004936512:5,741,836...5,800,999 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 chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chrNW_004936493:10,509,118...10,549,144 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 chrNW_004936496:10,409,948...10,466,722 JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G LOC101974044 erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chrNW_004936474:24,149,628...24,161,492 JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chrNW_004936476:16,483,203...16,487,360 JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chrNW_004936517:1,015,069...1,039,474 JBrowse link
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chrNW_004936476:15,849,054...15,862,486 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 chrNW_004936502:9,816,443...9,888,002 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 chrNW_004936469:67,962...83,116 JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chrNW_004936492:11,709,623...11,784,028 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 chrNW_004936526:2,254,463...2,282,785 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 chrNW_004936538:4,526,713...4,546,861 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 chrNW_004936538:4,549,032...4,642,870 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 chrNW_004936528:5,081,569...5,084,030 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 chrNW_004936597:1,667,700...1,684,533 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 chrNW_004936669:755,091...760,365 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 chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936500:1,620,763...1,678,561 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 chrNW_004936778:1,056,259...1,137,772 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 chrNW_004936500:367,645...421,539 JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936500:125,589...137,071 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 chrNW_004936500:1,870,419...1,922,963 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 chrNW_004936500:976,043...1,003,559 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 chrNW_004936500:82,702...90,525 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 chrNW_004936778:847,473...943,038 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 chrNW_004936778:515,600...530,828 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 chrNW_004936778:394,985...430,070 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 chrNW_004936500:931,804...935,185 JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936500:502,444...503,307 JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:252,866...264,677 JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936500:143,078...160,318 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:375,800...390,764 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 chrNW_004936500:232,689...241,583 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 chrNW_004936500:164,659...173,144 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 chrNW_004936778:1,286,475...1,311,184 JBrowse link
G LOC101959878 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 chrNW_004936778:273,152...318,157 JBrowse link
G LOC101964515 PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:1,350,647...1,379,497 JBrowse link
G LOC101965531 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 chrNW_004936500:600,628...676,201 JBrowse link
G LOC101966782 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:1,582,160...1,583,314 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 chrNW_004936500:8,707...11,116 JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:323,120...351,100 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 chrNW_004936474:26,636,277...26,641,486 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 chrNW_004936484:16,087,924...16,180,089 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 chrNW_004936643:379,790...410,034 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 chrNW_004936500:1,102,724...1,113,856 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 chrNW_004936778:552,290...720,724 JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:149,844...248,905 JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936500:1,201,843...1,266,818 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 chrNW_004936500:94,016...117,598 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chrNW_004936476:8,730,766...9,160,102 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 chrNW_004936500:1,018,414...1,055,221 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 chrNW_004936778:1,024,066...1,036,365 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 chrNW_004936500:1,939,075...1,976,194 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 chrNW_004936500:248,102...264,534 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 chrNW_004936500:2,017,519...2,038,777 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 chrNW_004936500:475,213...488,475 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 chrNW_004936500:574,445...600,555 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 chrNW_004936500:1,402,289...1,423,398 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 chrNW_004936500:774,749...784,326 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 chrNW_004936778:823,376...846,843 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 chrNW_004936500:1,338,135...1,402,632 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 chrNW_004936778:1,225,872...1,264,736 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 chrNW_004936778:354,424...369,473 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 chrNW_004936778:1,392,110...1,412,153 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 chrNW_004936500:1,480,688...1,501,735 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 chrNW_004936500:264,716...317,419 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 chrNW_004936500:21,960...76,895 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 chrNW_004936778:1,576,580...1,660,344 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 chrNW_004936500:937,537...967,791 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 chrNW_004936500:1,437,658...1,474,705 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 chrNW_004936778:1,414,410...1,440,949 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 chrNW_004936500:1,732,481...1,785,711 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 chrNW_004936500:1,144,190...1,162,925 JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004936778:265,855...273,053 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 chrNW_004936500:1,827,785...1,848,176 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 chrNW_004936500:976,043...1,003,559 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 chrNW_004936643:379,790...410,034 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 chrNW_004936484:20,236,320...20,239,385 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 chrNW_004936530:4,698,234...4,723,131 JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chrNW_004936497:5,290,068...5,321,656 JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936509:4,452,382...4,470,658 JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936514:7,131,263...7,136,775 JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936481:14,936,108...14,962,504 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936526:1,922,088...2,252,731 JBrowse link
G Dnah9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936595:4,338,831...4,671,178 JBrowse link
G Ehbp1l1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936599:3,867,185...3,882,712 JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936581:1,328,685...1,332,713 JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936641:2,236,224...2,238,501 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 chrNW_004936721:1,118,376...1,125,282 JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chrNW_004936470:40,416,254...40,454,717 JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936493:1,984,054...2,184,693 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 chrNW_004936543:7,721,273...7,732,468 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 chrNW_004936888:375,372...378,125 JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936596:3,212,593...3,224,426 JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936655:131,367...156,888 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chrNW_004936548:2,078,568...2,113,877 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 chrNW_004936888:379,622...397,647 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 chrNW_004936619:2,505,300...2,523,500 JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936514:3,830,189...3,832,194 JBrowse link
G Mybphl myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936704:815,325...831,149 JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936538:5,257,165...5,351,757 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chrNW_004936672:1,351,053...1,481,954 JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936581:1,335,969...1,367,104 JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chrNW_004936469:25,837,577...26,040,271 JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chrNW_004936727:1,683,283...1,687,130 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 chrNW_004936597:1,426,318...1,577,193 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 chrNW_004936641:932,291...980,440 JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936481:14,962,572...14,964,929 JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936581:2,031,894...2,042,294 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 chrNW_004936668:2,602,261...2,687,903 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 chrNW_004936562:1,796,087...1,804,153 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 chrNW_004936580:5,157,351...5,166,790 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 chrNW_004936532:7,142,580...7,284,722 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 chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004936673:2,078,095...2,434,872 JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936846:51,074...57,452 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 chrNW_004936486:1,723,253...1,809,416 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 chrNW_004936479:16,350,746...16,374,911 JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936592:2,966,349...3,025,500 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936565:4,925,400...4,952,210 JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004936530:4,795,974...4,826,217 JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004936474:955,081...1,194,200 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 chrNW_004936695:353,965...492,014 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 chrNW_004936475:28,859,222...28,890,407 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 chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Ahcy adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chrNW_004936561:6,314,797...6,333,961 JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chrNW_004936627:1,555,151...1,584,370 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chrNW_004936740:489,357...514,235 JBrowse link
G Bche butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chrNW_004936707:1,784,338...1,913,401 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 chrNW_004936500:976,043...1,003,559 JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chrNW_004936591:1,619,446...1,643,667 JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chrNW_004936569:1,807,902...1,814,936 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chrNW_004936474:7,034,134...7,083,005 JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chrNW_004936535:1,950,117...2,005,786 JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chrNW_004936472:475,851...502,341 JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chrNW_004936927:189,359...301,791 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chrNW_004936476:16,961,734...16,965,487 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chrNW_004936515:8,937,391...9,236,438 JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chrNW_004936530:8,286,101...8,612,183 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chrNW_004936587:3,406,055...3,806,956 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutations, nonsense mutations:CDS:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572 PMID:10679944 PMID:12471611 PMID:15226090 PMID:16317120 More... RGD:10449400 RGD:1601421 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chrNW_004936484:16,087,924...16,180,089 JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chrNW_004936643:379,790...410,034 JBrowse link
G Ngf nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Nppb natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chrNW_004936474:683,325...684,662 JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chrNW_004936501:13,550,702...13,552,774 JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chrNW_004936538:4,549,032...4,642,870 JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chrNW_004936502:13,345,936...13,350,170 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936475:7,354,273...7,358,328 JBrowse link
G LOC101970831 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chrNW_004936529:6,917,762...6,947,512 JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chrNW_004936784:696,738...728,385 JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936512:8,590,302...8,622,121 JBrowse link
G Steap3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936469:51,084,250...51,121,738 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 chrNW_004936512:8,590,302...8,622,121 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 chrNW_004936469:51,084,250...51,121,738 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 chrNW_004936905:419,478...427,335 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 chrNW_004937067:194,375...246,607 JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chrNW_004936754:596,878...649,585 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 chrNW_004936606:4,555,034...4,561,961 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chrNW_004936888:375,372...378,125 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chrNW_004936888:379,622...397,647 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 chrNW_004936624:2,124,479...2,312,847 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 chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936905:419,478...427,335 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 chrNW_004937067:194,375...246,607 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 chrNW_004936835:961,840...970,287 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 chrNW_004936520:8,951,994...9,164,039 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 chrNW_004936520:10,140,784...10,410,082 JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chrNW_004936520:9,716,178...9,725,949 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chrNW_004936520:9,380,723...9,444,146 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 chrNW_004936520:9,869,166...9,990,205 JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chrNW_004936520:9,627,674...9,689,658 JBrowse link
G Traf3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chrNW_004936835:844,747...955,900 JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chrNW_004936520:10,104,050...10,122,057 JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chrNW_004936520:10,051,692...10,059,324 JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chrNW_004936835:961,840...970,287 JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chrNW_004936581:2,919,793...2,933,743 JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type OMIM
ClinVar
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 More... NCBI chrNW_004936520:10,140,784...10,410,082 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 chrNW_004936835:961,840...970,287 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 chrNW_004936503:10,508,989...10,637,424 JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chrNW_004936471:12,564,617...12,666,229 JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO mRNA:increased expression:duodenum (mouse)
mRNA:increased expression:small intestine mucosa (rat)
DNA:deletion:cds:p.A799_L800del (mouse)
RGD PMID:15637178 PMID:23776592 RGD:11252172 RGD:2315589 NCBI chrNW_004936683:2,874,022...2,936,214 JBrowse link
G C1qa complement C1q A chain ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chrNW_004936474:8,007,953...8,010,591 JBrowse link
G Fn1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chrNW_004936586:1,708,803...1,773,372 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760 RGD:11352819 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chrNW_004936792:531,076...579,083 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 chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Il6 interleukin 6 ISO associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)
RGD PMID:10095770 PMID:18549630 RGD:12904038 RGD:12910699 NCBI chrNW_004936471:36,547,552...36,601,327 JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chrNW_004936480:14,320,292...14,417,828 JBrowse link
G Kat5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chrNW_004936599:3,767,526...3,775,416 JBrowse link
G LOC101959175 amyloid beta precursor protein ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chrNW_004936640:1,549,977...1,787,436 JBrowse link
G LOC101969640 C-reactive protein ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G LOC101970831 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 chrNW_004936529:6,917,762...6,947,512 JBrowse link
G LOC101972117 hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606 RGD:11041634 NCBI chrNW_004936570:1,009,344...1,010,654 JBrowse link
G LOC101976500 haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586 RGD:11553834 NCBI chrNW_004936585:4,954,871...4,979,560 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 chrNW_004936512:8,590,302...8,622,121 JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chrNW_004936541:718,577...727,420 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:placenta:
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 More... RGD:11062096 RGD:11062104 RGD:11062105 NCBI chrNW_004936784:696,738...728,385 JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chrNW_004936492:3,819,347...3,848,372 JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936601:1,401,215...1,410,195 JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chrNW_004936471:33,682,730...33,688,332 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 chrNW_004936591:5,771,371...5,846,177 JBrowse link
G Leprot leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004936692:2,840,461...2,850,756 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 chrNW_004936506:10,191,789...10,292,355 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 chrNW_004936500:976,043...1,003,559 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chrNW_004936484:16,087,924...16,180,089 JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Nefm neurofilament medium chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chrNW_004936757:1,662,905...1,668,707 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 chrNW_004936624:516,206...535,749 JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25736335 PMID:28492532 NCBI chrNW_004936474:637,930...669,383 JBrowse link
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chrNW_004936474:605,492...623,355 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 chrNW_004936474:623,438...637,849 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 chrNW_004936488:3,526,875...3,538,851 JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chrNW_004936532:1,816,573...1,866,029 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 chrNW_004936809:827,008...853,689 JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chrNW_004936618:1,694,886...1,792,586 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 chrNW_004936474:26,636,277...26,641,486 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 chrNW_004936469:27,771,741...27,804,324 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 chrNW_004936474:26,641,776...26,653,291 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 chrNW_004936469:27,771,741...27,804,324 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 chrNW_004936618:1,856,473...2,169,869 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 chrNW_004936618:2,176,328...2,260,000 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 chrNW_004936618:1,694,886...1,792,586 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 chrNW_004936484:16,087,924...16,180,089 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 chrNW_004936488:3,526,875...3,538,851 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 chrNW_004936492:3,819,347...3,848,372 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 chrNW_004936561:5,794,685...5,842,619 JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chrNW_004936493:7,250,194...7,333,433 JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Apln apelin ISO protein:increased expression:plasma
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD PMID:15970339 PMID:19756893 RGD:1600932 RGD:2313938 NCBI chrNW_004936479:1,889,930...1,899,811 JBrowse link
G Aqp7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chrNW_004936524:1,898,635...1,915,078 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chrNW_004936471:31,962,500...32,019,516 JBrowse link
G Bdnf brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Cck cholecystokinin ISO protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) RGD PMID:17443025 RGD:1625798 NCBI chrNW_004936695:2,776,705...2,782,280 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 chrNW_004936555:531,842...641,905 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 chrNW_004936561:3,434,232...3,589,341 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chrNW_004936602:3,037,862...3,044,863 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chrNW_004936521:2,000,113...2,706,010 JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chrNW_004936558:4,786,148...5,146,062 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G LOC101968976 leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G LOC101973029 cytochrome P450 2E1 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 chrNW_004936486:19,691,822...19,702,684 JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chrNW_004936532:7,596,279...7,654,139 JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635 RGD:1600750 RGD:1600755 NCBI chrNW_004936497:4,636,370...4,638,205 JBrowse link
G Mchr1 melanin concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chrNW_004936492:1,153,895...1,156,980 JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chrNW_004936474:683,325...684,662 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 chrNW_004936576:1,932,526...1,939,560 JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 onset ISO protein:substitution:Y722C;severe early-onset RGD PMID:16702999 RGD:1626135 NCBI chrNW_004936680:267,850...621,467 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Morbid obesity ClinVar PMID:9753710 PMID:10690291 NCBI chrNW_004936602:1,230,907...1,368,588 JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:28492532 NCBI chrNW_004936498:3,082,575...3,095,739 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 chrNW_004936784:1,284,215...1,289,362 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 chrNW_004936669:1,377,005...1,385,287 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 chrNW_004936474:623,438...637,849 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 chrNW_004936474:10,581,504...10,589,364 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 chrNW_004936471:36,547,552...36,601,327 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 chrNW_004936589:1,565,933...1,719,208 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 chrNW_004936619:2,505,300...2,523,500 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 chrNW_004936508:12,162,553...12,281,812 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 chrNW_004936599:2,992,740...3,005,230 JBrowse link
G LOC101962856 ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chrNW_004936519:6,431,156...6,473,183 JBrowse link
G Sod1 superoxide dismutase 1 ISO Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12514262 PMID:15337829 RGD:1358244 NCBI chrNW_004936500:10,345,154...10,352,873 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 chrNW_004936558:327,822...373,474 JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 disease_progression
susceptibility
ISO mRNA:increased expression:liver (rat)
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD PMID:17287470 PMID:25612518 RGD:15045599 RGD:1601092 NCBI chrNW_004936559:7,177,887...7,312,660 JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chrNW_004936469:10,521,576...10,599,005 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 chrNW_004936508:8,093,804...8,117,467 JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO RGD PMID:15331430 RGD:1601095 NCBI chrNW_004936508:8,074,697...8,093,424 JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936769:950,970...1,053,671 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chrNW_004936543:856,678...862,080 JBrowse link
G Acly ATP citrate lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936490:16,758,001...16,798,152 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 chrNW_004936532:130,799...145,285 JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936659:1,598,252...1,642,615 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue
mRNA, protein:increased expression:adipose tissue, liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:1543733 PMID:16788709 PMID:20882379 RGD:1625735 RGD:1625737 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chrNW_004936530:2,217,713...2,224,070 JBrowse link
G Adarb1 adenosine deaminase RNA specific B1 ISO associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chrNW_004936778:1,056,259...1,137,772 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 chrNW_004936493:7,250,194...7,333,433 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with myocardial infarction; protein:decreased expression:plasma
RGD
CTD
PMID:10092513 PMID:11549668 PMID:14617771 PMID:16092047 PMID:18303100 More... RGD:14975146 RGD:1599149 RGD:2313239 RGD:5686809 RGD:5686813 RGD:8695927 NCBI chrNW_004936578:3,168,599...3,179,369 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 chrNW_004936567:1,658,405...1,674,794 JBrowse link
G Adipor2 adiponectin receptor 2 treatment
severity
ISO mRNA:increased expression:liver
associated with non-alcoholic fatty liver disease
mRNA:decreased expression:liver (rat)
RGD PMID:16483885 PMID:23838384 PMID:30131158 PMID:30225267 RGD:1625763 RGD:21406435 RGD:25824942 RGD:8695926 NCBI chrNW_004936606:1,911,104...2,007,109 JBrowse link
G Adm adrenomedullin ISO mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chrNW_004936528:8,005,223...8,007,586 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 chrNW_004936567:1,430,128...1,508,626 JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:10404816 RGD:1300265 NCBI chrNW_004936744:249,673...253,040 JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chrNW_004936486:4,400,467...4,401,588 JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility
no_association
ISO DNA:polymorphisms: :p.R16G, p.Q27E OMIM
RGD
PMID:17027833 PMID:17221209 RGD:1601119 RGD:1601122 NCBI chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Adrb3 adrenoceptor beta 3 no_association ISO ClinVar Annotator: match by term: Obesity
DNA:missense mutation:cds:p.W64R rs4994 (human)
OMIM
ClinVar
RGD
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 More... RGD:5684409 NCBI chrNW_004936710:1,410,589...1,413,279 JBrowse link
G Aff4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chrNW_004936647:2,242,476...2,342,409 JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chrNW_004936646:1,865,154...1,881,614 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 chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
DNA:polymorphism: :p.T174M
RGD PMID:16514903 PMID:16713443 RGD:1601142 RGD:1601143 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:15793237 RGD:2313554 NCBI chrNW_004936479:13,252,678...13,255,570 JBrowse link
G Ahi1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chrNW_004936560:2,881,631...3,057,256 JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27020609 PMID:30813227 PMID:31306034 NCBI chrNW_004936546:3,737,908...3,783,492 JBrowse link
G Ahsg alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:serum RGD PMID:17011519 PMID:19228823 RGD:1625793 RGD:2313809 NCBI chrNW_004936578:3,332,934...3,339,903 JBrowse link
G Ak1 adenylate kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:15855311 RGD:1601154 NCBI chrNW_004936487:15,507,663...15,517,401 JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20975297 NCBI chrNW_004936490:5,829,728...5,842,217 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23954404 NCBI chrNW_004936621:620,163...639,115 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 chrNW_004936661:2,652,568...2,694,039 JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936898:456,299...484,681 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Amh anti-Mullerian hormone ISO protein:decreased expression:serum RGD PMID:17109858 RGD:1601182 NCBI chrNW_004936588:1,342,791...1,345,746 JBrowse link
G Ang angiogenin ISO protein:increased expression:adipose tissue RGD PMID:22748184 RGD:6892722 NCBI chrNW_004936880:39,372...40,070 JBrowse link
G Angptl4 angiopoietin like 4 resistance ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:17210919 PMID:28842503 RGD:1625353 NCBI chrNW_004936588:5,188,866...5,194,924 JBrowse link
G Apcdd1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chrNW_004936626:1,217,240...1,237,741 JBrowse link
G Apln apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chrNW_004936479:1,889,930...1,899,811 JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression RGD PMID:9933608 PMID:12725089 RGD:1601185 RGD:2313959 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:serum RGD PMID:9002300 PMID:9933608 RGD:1601191 RGD:2313959 NCBI chrNW_004936903:520,420...521,726 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 chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO mRNA:increased expression:liver RGD PMID:8781289 RGD:1626278 NCBI chrNW_004939393:628...6,234 JBrowse link
G Apoc1 apolipoprotein C1 ISO RGD PMID:11723061 RGD:2313951 NCBI chrNW_004936706:1,519,248...1,520,102 JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:9002300 RGD:1601191 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apod apolipoprotein D ISO DNA:polymorphism RGD PMID:7913935 RGD:2311179 NCBI chrNW_004936833:260,798...277,060 JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:9002300 PMID:17192461 PMID:20975297 RGD:1601191 RGD:1601230 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Aqp7 aquaporin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16325777 NCBI chrNW_004936524:1,898,635...1,915,078 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 chrNW_004936635:485,903...647,820 JBrowse link
G Arl13b ADP ribosylation factor like GTPase 13B ISO protein:decreased expression:hypothalamus, cilium (mouse) RGD PMID:22581473 RGD:11553936 NCBI chrNW_004936666:115,964...179,639 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 susceptibility ISO RGD PMID:16286513 RGD:1601250 NCBI chrNW_004936740:489,357...514,235 JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:25822172 RGD:14696745 NCBI chrNW_004936472:168,745...173,996 JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment ISO RGD PMID:26880535 RGD:13782133 NCBI chrNW_004936646:951,236...958,907 JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO RGD PMID:19549744 RGD:14696798 NCBI chrNW_004936484:7,016,049...7,031,060 JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment ISO RGD PMID:27874268 RGD:13792665 NCBI chrNW_004936588:612,255...614,894 JBrowse link
G Atp5mc2 ATP synthase membrane subunit c locus 2 ISO RGD PMID:26709097 RGD:11535661 NCBI chrNW_004936512:10,908,915...10,918,445 JBrowse link
G Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936474:27,638,637...27,663,348 JBrowse link
G B2m beta-2-microglobulin ISO protein:increased expression:urine RGD PMID:15517379 RGD:1601309 NCBI chrNW_004936471:7,646,504...7,655,656 JBrowse link
G Bad BCL2 associated agonist of cell death ISO protein:increased expression:heart left ventricle RGD PMID:18070754 RGD:2292682 NCBI chrNW_004936599:4,924,349...4,933,683 JBrowse link
G Bambi BMP and activin membrane bound inhibitor ISO mRNA:decreased expression:adipose tissue RGD PMID:22187378 RGD:14390162 NCBI chrNW_004936613:3,098,549...3,103,868 JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 no_association ISO DNA:mutation: :p.M390R (human) RGD PMID:14993910 RGD:1601314 NCBI chrNW_004936599:3,059,274...3,076,853 JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chrNW_004936475:8,785,914...8,810,490 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 onset ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chrNW_004936471:31,962,500...32,019,516 JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:heart left ventricle RGD PMID:18202171 RGD:2293027 NCBI chrNW_004936497:2,209,136...2,373,580 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 chrNW_004936604:551,774...567,014 JBrowse link
G Bdnf brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:18070754 RGD:2292682 NCBI chrNW_004936486:18,449,371...18,460,435 JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chrNW_004936476:25,807,179...25,818,914 JBrowse link
G Brs3 bombesin receptor subtype 3 ISO RGD PMID:9367152 RGD:734661 NCBI chrNW_004936513:10,784,181...10,788,679 JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23118029 RGD:7411625 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C5ar1 complement C5a receptor 1 treatment ISO RGD PMID:23118029 RGD:7411625 NCBI chrNW_004936664:1,026,216...1,033,438 JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936544:337,437...347,760 JBrowse link
G Cadm2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:31341224 RGD:15092077 NCBI chrNW_004936610:3,304,556...4,297,745 JBrowse link
G Canx calnexin ISO protein:increased expression:subcutaneous adipose tissue RGD PMID:18567819 RGD:2314284 NCBI chrNW_004936739:1,051,853...1,085,658 JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs RGD PMID:16752174 RGD:1625047 NCBI chrNW_004936745:1,029,514...1,039,524 JBrowse link
G Cartpt CART prepropeptide no_association ISO ClinVar Annotator: match by term: Obesity
DNA:polymorphism:3' utr (human)
DNA:deletion, substitution: :1457delA, 1475A>G (human)
OMIM
ClinVar
RGD
PMID:10574510 PMID:10805512 PMID:11522684 PMID:15326462 PMID:25741868 RGD:2313633 RGD:2313634 NCBI chrNW_004936549:4,717,337...4,719,523 JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:22492718 RGD:6784520 NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Cav2 caveolin 2 ISO RGD PMID:22492718 RGD:6784520 NCBI chrNW_004936589:2,553,932...2,561,186 JBrowse link
G Cckar cholecystokinin A receptor ISO DNA:deletion RGD PMID:9192855 PMID:9530226 RGD:7257724 RGD:734711 NCBI chrNW_004936477:3,306,898...3,314,659 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum RGD PMID:18469848 RGD:2307038 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:adipose tissue RGD PMID:18492752 RGD:6483834 NCBI chrNW_004936596:223,660...224,739 JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:skeletal muscle, T-tubule
mRNA, protein:increased expression:liver, gastrocnemius
RGD PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 RGD:11041118 RGD:11041132 RGD:6893497 RGD:6893542 NCBI chrNW_004936810:791,823...838,303 JBrowse link
G Cd40 CD40 molecule treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21670556 PMID:29035695 RGD:7248753 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:20660932 PMID:21817098 RGD:5490592 RGD:5490970 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936595:858,289...861,131 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 chrNW_004936646:1,886,262...1,889,260 JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chrNW_004936552:5,903,042...6,347,498 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:liver RGD PMID:23357529 RGD:10045356 NCBI chrNW_004936587:4,573,166...4,578,480 JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO RGD PMID:16627576 RGD:2301355 NCBI chrNW_004936742:981,863...993,271 JBrowse link
G Cebpa CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242765 NCBI chrNW_004936570:2,513,561...2,516,213 JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 ClinVar PMID:29311637 NCBI chrNW_004936493:7,333,387...7,351,368 JBrowse link
G Cfd complement factor D ISO mRNA, protein:decreased expression:adipocyte, serum RGD PMID:2197880 PMID:14564690 RGD:1624324 RGD:1624327 NCBI chrNW_004936588:350,925...352,732 JBrowse link
G Cidea cell death inducing DFFA like effector a ISO protein:amino acid substitution:V115F
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16186410 PMID:20975297 RGD:1625390 NCBI chrNW_004936626:230,372...246,893 JBrowse link
G Cnr1 cannabinoid receptor 1 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:3813A>G (human)
DNA:polymorphism: :1256C>A, 1419+1G>C (human)
CTD
RGD
PMID:17292652 PMID:17405839 PMID:18722357 PMID:19325539 PMID:19530697 RGD:1626325 RGD:1626326 RGD:2314629 RGD:2314630 NCBI chrNW_004936510:3,779,930...3,806,615 JBrowse link
G Cntf ciliary neurotrophic factor no_association ISO DNA:point mutation:intron:G>A RGD PMID:12404108 PMID:14747836 RGD:1626113 RGD:1626114 NCBI chrNW_004936581:3,710,171...3,715,753 JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism:exon RGD PMID:17497175 RGD:2289713 NCBI chrNW_004936619:3,847,059...3,883,866 JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11836301 PMID:16959692 RGD:2313645 NCBI chrNW_004936857:577,067...609,855 JBrowse link
G Cpe carboxypeptidase E no_association ISO CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin
no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients
CTD
RGD
PMID:7663508 PMID:9662053 PMID:15358678 PMID:23434795 RGD:1626181 RGD:1626184 NCBI chrNW_004936555:531,842...641,905 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO RGD PMID:15481768 RGD:2303517 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO mRNA:decreased expression:liver RGD PMID:16751799 RGD:2311345 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Crh corticotropin releasing hormone ISO RGD PMID:11564446 RGD:5508830 NCBI chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO DNA:SNP:CDS:861C>T (human) RGD PMID:14724656 RGD:1626226 NCBI chrNW_004936541:2,288,847...2,333,129 JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936646:676,926...704,988 JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chrNW_004936501:13,286,821...13,291,280 JBrowse link
G Ctsc cathepsin C ISO RGD PMID:3705543 RGD:1599645 NCBI chrNW_004936736:1,201,343...1,240,311 JBrowse link
G Ctss cathepsin S ISO CTD Direct Evidence: marker/mechanism CTD PMID:21156398 NCBI chrNW_004936580:963,176...991,732 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:SNP: :p.T280M (human) RGD PMID:20523302 RGD:4891903 NCBI chrNW_004936473:28,508,726...28,535,640 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:25016030 RGD:13673852 NCBI chrNW_004936469:39,794,613...39,798,448 JBrowse link
G Dcn decorin ISO RGD PMID:17244723 RGD:1600551 NCBI chrNW_004936507:7,887,259...7,923,055 JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25741868 More... NCBI chrNW_004936710:1,593,899...1,616,572 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26655953 NCBI chrNW_004936646:1,665,019...1,669,212 JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936888:473,651...497,152 JBrowse link
G Defb1 defensin beta 1 ISO mRNA:decreased expression:kidney RGD PMID:11340353 RGD:4892260 NCBI chrNW_004936615:4,780,229...4,790,516 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment
no_association
ISO DNA:polymorphism:C97T RGD PMID:10802663 PMID:14569040 PMID:18183944 RGD:10401058 RGD:1625597 RGD:734536 NCBI chrNW_004936470:7,916,438...7,926,089 JBrowse link
G Dio2 iodothyronine deiodinase 2 no_association ISO protein:substitution:Thr92Ala RGD PMID:17077128 RGD:1626439 NCBI chrNW_004936488:8,769,555...8,783,157 JBrowse link
G Dip2c disco interacting protein 2 homolog C ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chrNW_004936484:13,587,541...13,752,361 JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Obesity ClinVar NCBI chrNW_004936612:2,440,357...2,518,596 JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:26825290 PMID:27328748 PMID:28492532 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:25741868 NCBI chrNW_004936493:6,963,406...7,013,256 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Drd1 dopamine receptor D1 treatment ISO protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) RGD PMID:15983225 PMID:17191082 RGD:7248449 RGD:7248552 NCBI chrNW_004936609:790,647...795,187 JBrowse link
G Drd2 dopamine receptor D2 ISO mRNA:decreased expression:ventral tegmental area (rat)
DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple
RGD PMID:15939106 PMID:17108814 PMID:18477764 RGD:1600904 RGD:1600905 RGD:2311581 NCBI chrNW_004936612:1,094,686...1,154,149 JBrowse link
G Drd4 dopamine receptor D4 ISO protein:decreased expression:kidney (rat) RGD PMID:20810614 RGD:7248616 NCBI chrNW_004936888:468,334...471,254 JBrowse link
G Dusp1 dual specificity phosphatase 1 susceptibility ISO RGD PMID:16814733 RGD:2298673 NCBI chrNW_004936609:2,688,170...2,691,057 JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chrNW_004936661:1,780,706...1,785,864 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Edn1 endothelin 1 ISO DNA:polymorphism:exon:p.K198N (human) RGD PMID:17444275 RGD:1625065 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098442 NCBI chrNW_004936777:434,729...447,778 JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (mouse) RGD PMID:3624263 RGD:5131534 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Ehd1 EH domain containing 1 ISO RGD PMID:21365757 RGD:8661255 NCBI chrNW_004936599:4,451,207...4,473,078 JBrowse link
G Elovl6 ELOVL fatty acid elongase 6 ISO mRNA,protein:increased expression:liver: RGD PMID:31988048 RGD:21403676 NCBI chrNW_004936563:1,224,392...1,344,707 JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Obesity ClinVar PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 NCBI chrNW_004936474:5,512,100...5,539,198 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Obesity OMIM
ClinVar
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chrNW_004936620:598,677...627,766 JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26441656 NCBI chrNW_004936492:696,982...778,132 JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11095962 PMID:20667977 PMID:22230815 RGD:8553065 RGD:8553199 NCBI chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:22230815 RGD:8553199 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G Esrra estrogen related receptor alpha no_association ISO RGD PMID:16755280 RGD:1625637 NCBI chrNW_004936599:4,898,534...4,922,758 JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chrNW_004936576:5,140,577...5,165,527 JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21210148 PMID:22841818 PMID:23628972 RGD:5147773 RGD:7387310 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9258277 PMID:14513073 PMID:16739871 PMID:19329212 RGD:1625710 RGD:2312379 RGD:2312395 RGD:2312404 NCBI chrNW_004936472:505,751...515,375 JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism
CTD
RGD
PMID:15809662 PMID:19103437 PMID:20716455 RGD:1625726 NCBI chrNW_004936474:27,419,211...27,441,061 JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice RGD PMID:17058218 RGD:1626440 NCBI chrNW_004936712:738,361...743,073 JBrowse link
G Fabp2 fatty acid binding protein 2 no_association
onset
ISO DNA:polymorphism:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
Early onset of obesity and resistance to reducing visceral white adipose tissue; DNA:polymorphism:CDS:amino acid A54T, in Japanese women with a BMI > 25
RGD PMID:14981227 PMID:15620432 PMID:17211557 RGD:1578458 RGD:1626400 RGD:1626407 NCBI chrNW_004936869:146,567...149,929 JBrowse link
G Fabp3 fatty acid binding protein 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle RGD PMID:17515913 RGD:2307328 NCBI chrNW_004936474:14,576,582...14,