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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 chr17:41,717,739...41,734,646
Ensembl chr17:41,717,742...41,734,644
JBrowse link
G TFRC transferrin receptor ISO protein:decreased expression:T cell RGD PMID:18373698 RGD:2292028 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
Abdominal Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule exacerbates IEP protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTF1 cardiotrophin 1 ISS MouseDO NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G GUCY2C guanylate cyclase 2C ISS MouseDO NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
JBrowse link
G LEP leptin ISS MouseDO NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISS MouseDO NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISS MouseDO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRKCI protein kinase C iota ISS MouseDO NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
JBrowse link
G SIRT3 sirtuin 3 ISS MouseDO NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISS MouseDO NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
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 chr12:110,281,247...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G LEP leptin ISS OMIM:605552 MouseDO NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP ClinVar Annotator: match by term: Metabolic syndrome, protection against OMIM
ClinVar
PMID:16721486 PMID:28492532 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TP53INP1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 8:94,925,972...94,949,378
Ensembl chr 8:94,925,972...94,949,378
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 IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar
OMIM
PMID:24827035 PMID:25741868 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
JBrowse link
abdominal obesity-metabolic syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CELA2A chymotrypsin like elastase 2A IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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 IAGP
EXP
DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GULOP gulonolactone (L-) oxidase, pseudogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:30606963 NCBI chr 8:27,577,611...27,589,073
Ensembl chr 8:27,560,274...27,589,073
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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 IAGP DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar
OMIM
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
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 IAGP
ISS
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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 IAGP ClinVar Annotator: match by term: Bile acid conjugation defect 1
ClinVar Annotator: match by term: BILE ACID CONJUGATION DEFECT 1
OMIM
ClinVar
PMID:12704386 PMID:23415802 PMID:25741868 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400
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 IAGP ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS
ClinVar
OMIM
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791
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 IAGP ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
OMIM
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
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 chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr21:44,246,339...44,261,897
Ensembl chr21:44,246,339...44,262,216
JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr18:54,151,606...54,224,669
Ensembl chr18:54,151,606...54,224,669
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 IAGP ClinVar Annotator: match by term: Chops syndrome
ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28166811 More... NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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 IAGP ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 49
ClinVar
OMIM
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239
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 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,509,752...100,559,759
Ensembl chr 8:100,509,752...100,559,784
JBrowse link
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,021,083...103,073,051
Ensembl chr 8:103,021,063...103,073,051
JBrowse link
G AZIN1 antizyme inhibitor 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864
JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,140,725...103,230,305
Ensembl chr 8:103,140,713...103,230,305
JBrowse link
G COX6C cytochrome c oxidase subunit 6C IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,877,865...99,893,707
Ensembl chr 8:99,873,200...99,893,707
JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989
JBrowse link
G DCAF13 DDB1 and CUL4 associated factor 13 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,415,386...103,443,453
Ensembl chr 8:103,414,714...103,443,453
JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:104,339,796...104,356,689
Ensembl chr 8:104,339,087...104,356,689
JBrowse link
G DPYS dihydropyrimidinase IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055
JBrowse link
G FBXO43 F-box protein 43 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817
JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866
JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726
JBrowse link
G KCNS2 potassium voltage-gated channel modifier subfamily S member 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,426,958...98,432,853
Ensembl chr 8:98,426,958...98,432,853
JBrowse link
G KLF10 Kruppel like factor 10 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,648,784...102,655,725
Ensembl chr 8:102,648,784...102,655,725
JBrowse link
G LOC110120801 VISTA enhancer hs909 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,668,181...99,669,581 JBrowse link
G LOC113783876 Sharpr-MPRA regulatory region 5914 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar NCBI chr 8:99,013,101...99,013,395 JBrowse link
G LRP12 LDL receptor related protein 12 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
JBrowse link
G MIR599 microRNA 599 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 8:99,536,636...99,536,730
Ensembl chr 8:99,536,636...99,536,730
JBrowse link
G MIR875 microRNA 875 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 8:99,536,786...99,536,861
Ensembl chr 8:99,536,786...99,536,861
JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G NCALD neurocalcin delta IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,686,542...102,124,907
Ensembl chr 8:101,686,542...102,124,907
JBrowse link
G NIPAL2 NIPA like domain containing 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,189,826...98,294,235
Ensembl chr 8:98,189,826...98,294,393
JBrowse link
G ODF1 outer dense fiber of sperm tails 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,551,589...102,561,018
Ensembl chr 8:102,551,589...102,561,018
JBrowse link
G OSR2 odd-skipped related transciption factor 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,944,442...98,952,100
Ensembl chr 8:98,944,403...98,952,104
JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809
JBrowse link
G POLR2K RNA polymerase II, I and III subunit K IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,150,636...100,154,003
Ensembl chr 8:100,150,623...100,154,003
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
JBrowse link
G RGS22 regulator of G protein signaling 22 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,960,936...100,106,049
Ensembl chr 8:99,960,936...100,131,268
JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,500,610...104,256,094
Ensembl chr 8:103,500,610...104,254,430
JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,257,067...100,336,204
Ensembl chr 8:100,257,060...100,336,218
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SLC25A32 solute carrier family 25 member 32 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,398,638...103,415,107
Ensembl chr 8:103,398,635...103,415,189
JBrowse link
G SNX31 sorting nexin 31 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,572,874...100,663,585
Ensembl chr 8:100,572,889...100,663,415
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G STK3 serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,343,975...98,942,610
Ensembl chr 8:98,371,228...98,942,827
JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
JBrowse link
G UBR5-DT UBR5 divergent transcript IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,239,451...102,252,174
Ensembl chr 8:102,239,386...102,253,750
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP
EXP
ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZNF706 zinc finger protein 706 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,197,052...101,206,222
Ensembl chr 8:101,177,878...101,206,193
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 IAGP DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
ClinVar Annotator: match by term: Intrinsic factor deficiency
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency
ClinVar
OMIM
RGD
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... RGD:11049582 NCBI chr11:59,829,273...59,845,499
Ensembl chr11:59,829,273...59,845,499
JBrowse link
congenital leptin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEP leptin IAGP ClinVar Annotator: match by term: OBESITY, MORBID, NONSYNDROMIC 1
ClinVar Annotator: match by term: Leptin deficiency or dysfunction
ClinVar Annotator: match by term: Leptin dysfunction
ClinVar
OMIM
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 More... NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LOC106728418 LEP 5' regulatory region IAGP ClinVar Annotator: match by term: Leptin deficiency or dysfunction ClinVar NCBI chr 7:128,238,356...128,241,306 JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTH cystathionine gamma-lyase IAGP ClinVar Annotator: match by term: Cystathioninuria ClinVar
OMIM
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 1:70,411,268...70,439,851
Ensembl chr 1:70,411,218...70,439,851
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 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G LOC100289580 uncharacterized LOC100289580 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
ClinVar PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 1, due to red cell leak
ClinVar
OMIM
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
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 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM
ClinVar PMID:23033978 PMID:25741868 PMID:28492532 PMID:29209020 NCBI chr 6:78,867,551...78,979,411
Ensembl chr 6:78,867,551...78,946,440
JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: PHIP-Related Disorder
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM
ClinVar
OMIM
PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 More... NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,254
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G TTPA alpha tocopherol transfer protein IAGP
EXP
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 8:63,059,488...63,086,053
Ensembl chr 8:63,048,553...63,086,053
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMAP erythroblast membrane associated protein (Scianna blood group) IAGP ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 1:42,817,122...42,844,991
Ensembl chr 1:42,817,122...42,844,991
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) IAGP ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:45,724,181...45,752,520
Ensembl chr18:45,687,025...45,752,520
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) IAGP ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:44,219,615...44,234,142
Ensembl chr 6:44,219,553...44,234,142
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,817
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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 IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops
ClinVar
OMIM
RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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 IAGP ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by term: Congenital defect of folate absorption
ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr17:28,371,694...28,404,049
Ensembl chr17:28,364,356...28,404,049
JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP
EXP
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
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 chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO
ISS
IAGP
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO
RGD
PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar
OMIM
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,199,689...42,297,244
Ensembl chr21:42,199,689...42,297,244
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,865,223...43,987,592
Ensembl chr21:43,865,223...43,987,592
JBrowse link
G AIRE autoimmune regulator IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
JBrowse link
G C21orf58 chromosome 21 open reading frame 58 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,300,430...46,323,870
Ensembl chr21:46,300,181...46,323,875
JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:41,885,112...41,954,018
Ensembl chr21:41,885,112...41,954,018
JBrowse link
G CBS cystathionine beta-synthase IAGP DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Homocystinuria due to cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar
OMIM
RGD
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G CRYAA crystallin alpha A IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805
JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G DNMT3L DNA methyltransferase 3 like IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,246,339...44,261,897
Ensembl chr21:44,246,339...44,262,216
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579
JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,133,683...44,145,711
Ensembl chr21:44,133,610...44,210,114
JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488
JBrowse link
G ICOSLG inducible T cell costimulator ligand IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,216,981...44,240,943
Ensembl chr21:44,217,014...44,240,966
JBrowse link
G ITGB2 integrin subunit beta 2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G KRTAP10-1 keratin associated protein 10-1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,538,981...44,540,195
Ensembl chr21:44,538,981...44,540,195
JBrowse link
G KRTAP10-10 keratin associated protein 10-10 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,637,356...44,638,455
Ensembl chr21:44,637,356...44,638,455
JBrowse link
G KRTAP10-11 keratin associated protein 10-11 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,646,414...44,647,650
Ensembl chr21:44,646,414...44,647,650
JBrowse link
G KRTAP10-12 keratin associated protein 10-12 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,697,172...44,698,044
Ensembl chr21:44,697,172...44,698,044
JBrowse link
G KRTAP10-2 keratin associated protein 10-2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,550,357...44,551,505
Ensembl chr21:44,550,357...44,551,505
JBrowse link
G KRTAP10-3 keratin associated protein 10-3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,557,790...44,558,795
Ensembl chr21:44,557,790...44,558,795
JBrowse link
G KRTAP10-4 keratin associated protein 10-4 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,573,729...44,575,371
Ensembl chr21:44,573,729...44,575,371
JBrowse link
G KRTAP10-5 keratin associated protein 10-5 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,579,455...44,580,604
Ensembl chr21:44,579,455...44,580,604
JBrowse link
G KRTAP10-6 keratin associated protein 10-6 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,591,268...44,592,505
Ensembl chr21:44,591,268...44,592,505
JBrowse link
G KRTAP10-7 keratin associated protein 10-7 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,600,597...44,602,174
Ensembl chr21:44,600,597...44,602,174
JBrowse link
G KRTAP10-8 keratin associated protein 10-8 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,612,079...44,612,954
Ensembl chr21:44,612,079...44,612,954
JBrowse link
G KRTAP10-9 keratin associated protein 10-9 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,627,093...44,628,378
Ensembl chr21:44,627,093...44,628,378
JBrowse link
G KRTAP12-1 keratin associated protein 12-1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,681,576...44,682,163
Ensembl chr21:44,681,576...44,682,163
JBrowse link
G KRTAP12-2 keratin associated protein 12-2 IAGP 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 chr21:44,666,189...44,666,927
Ensembl chr21:44,666,189...44,666,927
JBrowse link
G KRTAP12-3 keratin associated protein 12-3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,657,932...44,658,341
Ensembl chr21:44,657,932...44,658,341
JBrowse link
G KRTAP12-4 keratin associated protein 12-4 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,654,213...44,654,659
Ensembl chr21:44,654,213...44,654,659
JBrowse link
G LINC00163 long intergenic non-protein coding RNA 163 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,989,864...44,994,086
Ensembl chr21:44,989,864...44,994,086
JBrowse link
G LINC00315 long intergenic non-protein coding RNA 315 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 Ensembl chr21:45,300,245...45,305,257 JBrowse link
G LINC00334 long intergenic non-protein coding RNA 334 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,234,340...45,258,730
Ensembl chr21:45,234,308...45,264,548
JBrowse link
G LRRC3 leucine rich repeat containing 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,455,510...44,462,196
Ensembl chr21:44,455,510...44,462,196
JBrowse link
G LSS lanosterol synthase IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IEA OMIM:236200 | OMIM:236250 MouseDO NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP
EXP
DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:28492532 More... RGD:5508189 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,893,309...42,913,299
Ensembl chr21:42,879,644...42,913,304
JBrowse link
G PCBP3 poly(rC) binding protein 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,643,725...45,942,450
Ensembl chr21:45,643,694...45,942,454
JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G PDE9A phosphodiesterase 9A IAGP 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 chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
JBrowse link
G PDXK pyridoxal kinase IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307
JBrowse link
G PFKL phosphofructokinase, liver type IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,300,053...44,327,373
Ensembl chr21:44,300,051...44,327,376
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,974,562...43,033,931
Ensembl chr21:42,974,510...43,033,931
JBrowse link
G POFUT2 protein O-fucosyltransferase 2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,263,935...45,287,895
Ensembl chr21:45,263,928...45,287,898
JBrowse link
G PRDM15 PR/SET domain 15 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:41,798,225...41,879,344
Ensembl chr21:41,798,225...41,879,482
JBrowse link
G PTTG1IP PTTG1 interacting protein IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,849,598...44,873,690
Ensembl chr21:44,849,585...44,873,903
JBrowse link
G PWP2 PWP2 small subunit processome component IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,107,399...44,131,181
Ensembl chr21:44,107,373...44,131,181
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G RRP1 ribosomal RNA processing 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,789,577...43,805,293
Ensembl chr21:43,789,513...43,805,293
JBrowse link
G RRP1B ribosomal RNA processing 1B IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,659,560...43,696,079
Ensembl chr21:43,659,560...43,696,079
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G SIK1 salt inducible kinase 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SLC37A1 solute carrier family 37 member 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,499,622...42,581,426
Ensembl chr21:42,496,008...42,581,440
JBrowse link
G SLX9 SLX9 ribosome biogenesis factor IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,939,697...44,976,973
Ensembl chr21:44,940,012...44,976,989
JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,161,160...46,184,459
Ensembl chr21:46,161,148...46,184,476
JBrowse link
G SUMO3 small ubiquitin like modifier 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,805,617...44,818,062
Ensembl chr21:44,805,617...44,818,779
JBrowse link
G TFF1 trefoil factor 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TFF2 trefoil factor 2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,346,357...42,350,994
Ensembl chr21:42,346,357...42,350,997
JBrowse link
G TFF3 trefoil factor 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409
JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,353,621...44,442,644
Ensembl chr21:44,350,163...44,443,081
JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,403,902...42,447,684
Ensembl chr21:42,403,447...42,447,684
JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:44,768,580...44,801,820
Ensembl chr21:44,768,580...44,801,826
JBrowse link
G UMODL1 uromodulin like 1 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,062,877...42,142,996
Ensembl chr21:42,062,959...42,143,453
JBrowse link
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G YBEY ybeY metalloendoribonuclease IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:46,286,342...46,313,225
Ensembl chr21:46,286,342...46,297,751
JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 IAGP ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr21:41,986,831...42,010,360
Ensembl chr21:41,986,831...42,010,387
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 IAGP ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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 IAGP ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
ClinVar
OMIM
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ALB albumin disease_progression IEP RGD PMID:17195148 RGD:11036098 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G C1orf105 chromosome 1 open reading frame 105 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:172,420,685...172,468,829
Ensembl chr 1:172,420,685...172,468,831
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CTSA cathepsin A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949
JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:224,929,654...225,399,286
Ensembl chr 1:224,896,262...225,399,292
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650
JBrowse link
G FCRL4 Fc receptor like 4 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:157,573,747...157,598,085
Ensembl chr 1:157,573,747...157,598,085
JBrowse link
G FEN1 flap structure-specific endonuclease 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:61,792,911...61,797,238
Ensembl chr11:61,792,911...61,797,238
JBrowse link
G FOXC2 forkhead box C2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25546394 PMID:25741868 PMID:28492532 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:30,886,782...31,138,440
Ensembl chr 2:30,910,467...31,155,202
JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KIF19 kinesin family member 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:74,326,226...74,355,820
Ensembl chr17:74,326,210...74,355,820
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC100289580 uncharacterized LOC100289580 IAGP 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 chr16:88,731,180...88,741,425 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:170,362...173,729 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr20:50,958,818...50,963,929
Ensembl chr20:50,958,818...50,963,929
JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011
JBrowse link
G MYO18A myosin XVIIIA IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:29,071,122...29,212,727
Ensembl chr17:29,071,122...29,180,398
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G NEU1 neuraminidase 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP 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 chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:172,441,457...172,444,069
Ensembl chr 1:172,370,189...172,444,086
JBrowse link
G PRPF19 pre-mRNA processing factor 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:60,890,547...60,906,585
Ensembl chr11:60,890,547...60,906,585
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:23791108 PMID:24469055 PMID:25124994 PMID:25741868 PMID:26242988 More... NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800
JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
JBrowse link
G SVOPL SVOP like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:138,594,285...138,701,362
Ensembl chr 7:138,594,285...138,701,362
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
G UBN1 ubinuclein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,847,481...4,882,401
Ensembl chr16:4,846,665...4,882,401
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
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 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545
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 IAGP ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant ClinVar
OMIM
PMID:5453458 PMID:17951468 NCBI chr16:81,238,689...81,291,142
Ensembl chr16:81,238,689...81,291,142
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
JBrowse link
G CBS cystathionine beta-synthase susceptibility ISO
IAGP
EXP
mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CTH cystathionine gamma-lyase IAGP ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 1:70,411,268...70,439,851
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IEP protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G DES desmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572
JBrowse link
G GNMT glycine N-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 6:42,960,754...42,963,880
Ensembl chr 6:42,960,754...42,963,880
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment IAGP
EXP
DNA:missense mutations, nonsense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP RGD PMID:12068375 RGD:1601425 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PYCARD PYD and CARD domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450
JBrowse link
G SLC46A1 solute carrier family 46 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G SLC11A2 solute carrier family 11 member 2 IEA OMIM:206100 | OMIM:615234 MouseDO NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
JBrowse link
G STEAP3 STEAP3 metalloreductase IEA OMIM:206100 | OMIM:615234 MouseDO NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
JBrowse link
G TF transferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G TNF tumor necrosis factor IMP associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcytic anemia with liver iron overload
CTD
ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
JBrowse link
G STEAP3 STEAP3 metalloreductase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
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 IAGP OMIM NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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 IAGP ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 ClinVar
OMIM
PMID:22031863 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
JBrowse link
G STEAP3-AS1 STEAP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 ClinVar PMID:22031863 NCBI chr 2:119,244,422...119,249,071
Ensembl chr 2:119,244,422...119,270,714
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 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G FGF23 fibroblast growth factor 23 IDA
IAGP
ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD
PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PHEX-AS1 PHEX antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr  X:22,162,732...22,172,983
Ensembl chr  X:22,162,733...22,172,983
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:10737991 PMID:11468271 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358
JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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 IAGP ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
ClinVar
OMIM
PMID:17033621 PMID:17033625 PMID:21050253 PMID:25741868 PMID:28492532 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
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 IAGP ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
RGD
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CUBN cubilin IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G SLC39A12 solute carrier family 39 member 12 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,315,421...17,454,595
Ensembl chr10:17,315,421...17,454,595
JBrowse link
G STAM signal transducing adaptor molecule IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,644,151...17,716,824
Ensembl chr10:17,644,151...17,716,824
JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,137,336...17,201,672
Ensembl chr10:17,137,336...17,202,054
JBrowse link
G VIM vimentin IAGP ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein IAGP ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
JBrowse link
G CBLIF cobalamin binding intrinsic factor IAGP
IEP
DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr11:59,829,273...59,845,499
Ensembl chr11:59,829,273...59,845,499
JBrowse link
G CUBN cubilin IAGP DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
OMIM
RGD
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 More... RGD:61796 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
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 IAGP DNA:mutation:splice site:
ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
ClinVar
OMIM
RGD
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:11071839 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
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 IAGP ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
ClinVar
OMIM
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 9:74,722,495...74,887,921
Ensembl chr 9:74,722,495...74,888,094
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)
RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G C1QA complement C1q A chain ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CST3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO
IDA
associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G GSR glutathione-disulfide reductase IEP protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HFE homeostatic iron regulator IAGP associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HP haptoglobin IEP protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G IL6 interleukin 6 ISO associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
JBrowse link
G PON1 paraoxonase 1 treatment IEP
IDA
protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO
EXP
protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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 chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G TF transferrin susceptibility IAGP DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia
ClinVar
RGD
PMID:11703331 PMID:12752114 PMID:16398662 PMID:28492532 PMID:11703331 RGD:1601513 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFRC transferrin receptor IEP
EXP
ISO
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
CTD
RGD
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G TMPRSS6 transmembrane serine protease 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
JBrowse link
G TNF tumor necrosis factor IAGP DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IEP mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 IEP mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
JBrowse link
G GPX1 glutathione peroxidase 1 IAGP DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
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 IAGP ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar Annotator: match by term: LEPR-Related Disorders
ClinVar Annotator: match by term: OBESITY, MORBID, NONSYNDROMIC 2
ClinVar
OMIM
PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 More... NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LEPROT leptin receptor overlapping transcript IAGP ClinVar Annotator: match by term: OBESITY, MORBID, NONSYNDROMIC 2
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar PMID:28492532 NCBI chr 1:65,420,668...65,436,007
Ensembl chr 1:65,420,587...65,436,007
JBrowse link
G LOC122094844 Sharpr-MPRA regulatory region 5730 IAGP ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:65,615,946...65,616,240 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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460
JBrowse link
G CALCRL-AS1 CALCRL and TFPI antisense RNA 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 ClinVar PMID:25741868 NCBI chr 2:187,188,460...187,557,971
Ensembl chr 2:187,003,220...187,556,288
JBrowse link
Malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16709328 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NEFM neurofilament medium chain ISO protein:increased expression:cerebral cortex RGD PMID:1908892 RGD:40902817 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
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 IAGP ClinVar Annotator: match by term: MEHMO syndrome
ClinVar Annotator: match by term: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar
OMIM
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf167 chromosome 1 open reading frame 167 IAGP ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 1:11,762,193...11,789,585
Ensembl chr 1:11,761,787...11,789,585
JBrowse link
G CLCN6 chloride voltage-gated channel 6 IAGP ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25736335 PMID:28492532 NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia
ClinVar
OMIM
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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 IAGP ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:23141461 PMID:25234635 PMID:28572511 PMID:30651581 PMID:33845046 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055
JBrowse link
G DCDC2C doublecortin domain containing 2C IAGP ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 2:3,703,575...3,848,008
Ensembl chr 2:3,703,575...3,848,008
JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP
EXP
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
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 with homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar
CTD
OMIM
PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 PMID:16311595 More... NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MMADHC metabolism of cobalamin associated D IAGP ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778
JBrowse link
G PRDX1 peroxiredoxin 1 IAGP ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar
OMIM
PMID:25741868 PMID:29396438 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G THAP11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr16:67,842,320...67,844,195
Ensembl chr16:67,842,320...67,844,195
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 IAGP ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD
ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA, cblH TYPE
ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE
ClinVar
OMIM
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778
JBrowse link
G MMADHC-DT MMADHC divergent transcript IAGP ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD ClinVar NCBI chr 2:149,587,358...149,848,234
Ensembl chr 2:149,587,196...150,047,447
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 IAGP ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 6:69,866,556...70,212,468
Ensembl chr 6:69,866,556...70,212,468
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP
EXP
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16199547 PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 More... NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
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 LOC122152347 Sharpr-MPRA regulatory region 3741 IAGP ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:9683607 PMID:12068375 PMID:28492532 NCBI chr 1:236,833,589...236,833,883 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP ClinVar Annotator: match by term: METHYLCOBALAMIN DEFICIENCY, cblG TYPE
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar
OMIM
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
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 IAGP ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055
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 IAGP ClinVar Annotator: match by term: PSEUDO-IRON-DEFICIENCY ANEMIA
ClinVar Annotator: match by term: Microcytic anemia
ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia
ClinVar
OMIM
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 More... NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
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 IEP RGD PMID:22384010 RGD:13831306 NCBI chr20:34,874,989...34,927,959
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G ADCY3 adenylate cyclase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment IDA RGD PMID:22828946 RGD:7243249 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G APLN apelin IEP protein:increased expression:plasma
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD PMID:15970339 PMID:19756893 RGD:1600932, RGD:2313938 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G AQP7 aquaporin 7 IEP mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 susceptibility IAGP DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
JBrowse link
G BDNF brain derived neurotrophic factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CCK cholecystokinin IEP protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) RGD PMID:17443025 RGD:1625798 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
JBrowse link
G CPE carboxypeptidase E IEP mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects RGD PMID:12530526 RGD:1626182 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
JBrowse link
G CTNNBL1 catenin beta like 1 susceptibility
no_association
IAGP DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) RGD PMID:19245693 PMID:19228371 RGD:9850251, RGD:9850253 NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,693,955...37,872,129
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IEP 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 chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G GHRL ghrelin and obestatin prepropeptide IDA RGD PMID:19188925 RGD:2313745 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KSR2 kinase suppressor of ras 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:117,453,012...117,968,990
Ensembl chr12:117,453,012...117,968,990
JBrowse link
G LEP leptin EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LPIN1 lipin 1 IEP RGD PMID:17563064 RGD:1641822 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
G MC4R melanocortin 4 receptor IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29273807 PMID:29311635 PMID:12588803 PMID:11443223 RGD:1600750, RGD:1600755 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 onset IAGP DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr22:40,679,484...40,682,812
Ensembl chr22:40,679,273...40,682,812
JBrowse link
G NPPB natriuretic peptide B IEP protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NPY2R neuropeptide Y receptor Y2 IAGP DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only RGD PMID:15855352 RGD:1642381 NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 onset IAGP protein:substitution:Y722C;severe early-onset RGD PMID:16702999 RGD:1626135 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 TAS RGD PMID:11874690 RGD:1357926 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
JBrowse link
G POMC proopiomelanocortin TAS RGD PMID:11874690 RGD:1357926 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP ClinVar Annotator: match by term: Morbid obesity ClinVar PMID:9753710 PMID:10690291 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G UCP3 uncoupling protein 3 IAGP ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:28492532 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
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 IAGP ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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 IAGP DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)
ClinVar Annotator: match by term: MORM syndrome
ClinVar
OMIM
RGD
PMID:19668215 PMID:25741868 PMID:28492532 PMID:19668215 RGD:12911209 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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 IAGP ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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 IAGP
EXP
ClinVar Annotator: match by term: Zinc deficiency, transient neonatal
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17065149 PMID:22733820 PMID:25741868 NCBI chr 1:26,037,252...26,046,118
Ensembl chr 1:26,037,252...26,046,118
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 IAGP ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr11:66,593,185...66,606,019
Ensembl chr11:66,593,153...66,606,019
JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G SOD1 superoxide dismutase 1 ISO
EXP
Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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 chr12:125,065,435...125,143,316
Ensembl chr12:125,065,434...125,143,333
JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 susceptibility
disease_progression
IAGP
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
mRNA:increased expression:liver (rat)
RGD PMID:17287470 PMID:25612518 RGD:1601092, RGD:15045599 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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 chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP RGD PMID:15331430 RGD:1601095 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G AC104123.1 novel transcript, antisense to PCSK1 IAGP ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Body mass index quantitative trait locus 12
ClinVar PMID:18604207 PMID:25741868 PMID:28492532 NCBI chr 5:95,962,001...96,631,085
Ensembl chr 5:95,962,001...96,631,085
JBrowse link
G ACACB acetyl-CoA carboxylase beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACE angiotensin I converting enzyme no_association ISO
IAGP
protein:increased expression:liver RGD PMID:19361967 PMID:17164796 RGD:2325227, RGD:1601115 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
JBrowse link
G ACLY ATP citrate lyase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr17:41,866,917...41,930,545
Ensembl chr17:41,866,917...41,930,542
JBrowse link
G ACP1 acid phosphatase 1 severity IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:2373509 PMID:9198310 RGD:1625289, RGD:2313187 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant EXP CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 IEP
ISO
EXP
mRNA:decreased expression:subcutaneous adipose tissue
mRNA, protein:increased expression:adipose tissue, liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20882379 PMID:16788709 PMID:1543733 RGD:1625735, RGD:1625737 NCBI chr 4:184,755,595...184,826,594
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G ADA adenosine deaminase IEP protein:increased expression:serum RGD PMID:16501670 RGD:1624289 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO associated with Hyperphagia RGD PMID:17567573 RGD:10450894 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
JBrowse link
G ADCY3 adenylate cyclase 3 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
CTD
ClinVar
PMID:29311635 PMID:29311636 PMID:29311637 NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237
JBrowse link
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:20882379 NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,352,760
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO
IEP
EXP
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with myocardial infarction; protein:decreased expression:plasma
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:10092513 PMID:11549668 PMID:14617771 PMID:16092047 PMID:19606374 More... RGD:1599149, RGD:2313239, RGD:5686809, RGD:5686813, RGD:8695927, RGD:14975146 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO
IEP
mRNA:increased expression:liver
mRNA:decreased expression:lymphocyte
RGD PMID:16483885 PMID:17391161 RGD:1625763, RGD:1625761 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment
severity
ISO mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
associated with non-alcoholic fatty liver disease
RGD PMID:16483885 PMID:30225267 PMID:23838384 PMID:30131158 RGD:1625763, RGD:21406435, RGD:8695926, RGD:25824942 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADM adrenomedullin IEP mRNA, protein:increased expression:adipose tissue RGD PMID:16793965 RGD:1625297 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADORA1 adenosine A1 receptor IEP protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women RGD PMID:16507638 RGD:1625369 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G ADRA2A adrenoceptor alpha 2A IEA GAD PMID:15118671 RGD:1331525 NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
JBrowse link
G ADRA2B adrenoceptor alpha 2B IAGP RGD PMID:10404816 RGD:1300265 NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
JBrowse link
G ADRB1 adrenoceptor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12032746 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility
no_association
IAGP
IEA
ISO
EXP
DNA:polymorphisms: :p.R16G, p.Q27E
CTD Direct Evidence: marker/mechanism
OMIM
CTD
RGD
PMID:15687340 PMID:17027833 PMID:17221209 PMID:15118671 PMID:12161655 RGD:1601122, RGD:1601119, RGD:1331525,