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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:nutritional deficiency disease
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Accession:DOID:5113 term browser browse the term
Definition:A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)
Synonyms:exact_synonym: deficiency disease;   deficiency diseases
 primary_id: MESH:D003677
 xref: EFO:1001067
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
nutritional deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccs copper chaperone for superoxide dismutase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Sod1 superoxide dismutase 1 IEP
ISO		 Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO
ISS		 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
OMIM:193100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
DNA:missense mutation:cds:526C>T,p.R176W (human)		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
BILE ACID CONJUGATION DEFECT 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1 OMIM
ClinVar		 PMID:12704386 PMID:17495420 PMID:23415802 PMID:25741868 PMID:28492532 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
biotin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO ClinVar Annotator: match by term: Biotin deficiency ClinVar PMID:88555 PMID:9099842 PMID:9158148 PMID:10400129 PMID:11313766 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
choline deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 IEP
IDA		 mRNA:increased expression:liver:
DNA:hypermethylation:liver:		 RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP
IDA		 mRNA:increased expression:liver:
DNA:hypermethylation:liver:		 RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794 		JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... RGD:11049582 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO
ISS		 OMIM:219500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency		 OMIM
MouseDO
CTD
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
familial isolated deficiency of vitamin E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO
ISS		 ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency
OMIM:277460
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS		 OMIM:241530
DNA:deletions, snps:multiple (human)		 MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739 		JBrowse link
G Cbs cystathionine beta synthase ISO
ISS		 DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
OMIM:236200 | OMIM:236250
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844 		JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 More... RGD:5508189 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743 		JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207 		JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316 		JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619 		JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996 		JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE		 CTD
ClinVar
OMIM		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5453458 PMID:17951468 PMID:25741868 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISO
ISS		 mRNA:decreased expression, protein:decreased expression
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
OMIM:603174
ClinVar Annotator: match by term: Hyperhomocysteinemia		 CTD
MouseDO
ClinVar
RGD		 PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A IEP protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G F2 coagulation factor II, thrombin treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD		 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:		 RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type		 ClinVar
OMIM
RGD		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1		 OMIM
CTD
ClinVar		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Atp7a ATPase copper transporting alpha severity ISO
IEP		 mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)		 RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP
ISO		 associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP		 mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il6 interleukin 6 IEP associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)		 RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 IEP
ISO		 protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia		 ClinVar
RGD		 PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 More... RGD:1601513 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:		 CTD
RGD		 PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
Keshan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM:309541
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO
ISS		 ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Thap11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2		 OMIM
CTD
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG		 CTD
OMIM
ClinVar		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Zinc deficiency, transient neonatal
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956 		JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183 		JBrowse link
pernicious anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:4434116 PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
Potassium Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 IEP protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:15355967 RGD:7243096 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP mRNA, protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:17804457 RGD:8554499 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
primary hypomagnesemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary hypomagnesemia		 CTD
ClinVar		 PMID:668721 PMID:10390358 PMID:10878661 PMID:10995564 PMID:11518780 More... NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865262 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865262 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Insr insulin receptor treatment IEP RGD PMID:19880292 RGD:4107735 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b IEP protein:decreased expression:liver RGD PMID:5954822 RGD:2298983 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16214328 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
protein-energy malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin IEP protein:decreased expression:serum: RGD PMID:9235366 RGD:11036082 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 IEP mRNA:increased expression:liver RGD PMID:11952159 RGD:631316 NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649 		JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 IEP mRNA:increased expression:skeletal muscle RGD PMID:18725894 RGD:2301376 NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IEP mRNA:decreased expression:ovary (rat) RGD PMID:20018485 RGD:4890381 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Lipc lipase C, hepatic type IDA protein:reduced expression:plasma (rat) RGD PMID:7666262 RGD:2308792 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase IDA RGD PMID:11575573 RGD:1598897 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2		 CTD
ClinVar
OMIM
RGD		 PMID:3298795 PMID:9536098 PMID:11062458 PMID:11929868 PMID:12763860 More... RGD:1598986 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
renal hypomagnesemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO
ISS		 ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL
OMIM:248250		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 More... NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement		 OMIM
CTD
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal hypomagnesemia 6		 OMIM
CTD
ClinVar		 PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rragd Ras-related GTP binding D ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | ClinVar Annotator: match by term: RRAGD-related condition OMIM
ClinVar		 PMID:34607910 NCBI chr 5:47,373,902...47,409,369
Ensembl chr 5:47,373,463...47,409,356 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO
ISS		 vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Vdr vitamin D receptor ISO
ISS		 VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209 RGD:1624354 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule treatment IMP
IDA		 RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment IEP
IDA		 protein:increased expression:cerebrospinal fluid RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
thiamine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO
ISS		 ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
OMIM:249270
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172 		JBrowse link
transcobalamin II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcn2 transcobalamin 2 ISO ClinVar Annotator: match by term: Transcobalamin II deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 More... NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
Vitamin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16120438 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment ISO
IEP		 RGD PMID:25451926 PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204 		JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
Vitamin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase IEP RGD PMID:12544342 RGD:1599455 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
vitamin B12 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Vitamin B12 deficiency ClinVar PMID:25741868 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Calr calreticulin IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cbs cystathionine beta synthase IEP protein:decreased expression:liver (rat) RGD PMID:2732804 RGD:40903037 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:16716410 RGD:2313422 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cfl1 cofilin 1 IEP protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Fut2 fucosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO RGD PMID:11115425 RGD:401827848 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
Vitamin D Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein IDA RGD PMID:3105848 RGD:6483561 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A RGD PMID:18476984 RGD:2307310 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO DNA:SNP:CDS: rs12794714|rs10766197 (human)
DNA:SNP:CDS:rs12794714 (human)		 RGD PMID:34906413 PMID:31814925 RGD:401900724, RGD:401901168 NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO DNA:SNP:CDS:rs12785878 (human) RGD PMID:31814925 RGD:401901168 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:SNP:CDS:rs2282679) (human) RGD PMID:31814925 RGD:401901168 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 IEP RGD PMID:28365874 RGD:124713570 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Retn resistin IEP mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)		 CTD
RGD		 PMID:9525346 PMID:30683615 RGD:14401752 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment ISO
IMP		 ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
vitamin D-dependent rickets type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Vdr vitamin D receptor treatment ISO
IMP		 ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka treatment IMP compared to untreated vdr KO RGD PMID:32231239 RGD:32716373
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar		 PMID:29461981 NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008 		JBrowse link
Vitamin E Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 treatment IEP associated with nitrate tolerance RGD PMID:16520233 RGD:401900296 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
vitamin K deficiency bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:16869104 RGD:6483568 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:8229066 RGD:405100718 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO
ISS		 ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
OMIM:307800
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:		 OMIM
ClinVar
MouseDO
RGD		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
Zinc Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:liver (rat) RGD PMID:20404036 RGD:12904966 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 IEP mRNA:increased expression:lung, kidney (rat) RGD PMID:20859692 RGD:11553849 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      nutrition disease 1022
        Malnutrition 273
          nutritional deficiency disease 256
            Avitaminosis + 216
            Keshan disease 3
            Potassium Deficiency 2
            Protein Deficiency + 10
            Zinc Deficiency + 4
            acquired night blindness 0
            biotin deficiency 1
            copper deficiency myelopathy 0
            endemic goiter 0
            iron deficiency anemia 23
            primary hypomagnesemia + 8
            protein-energy malnutrition + 5
            riboflavin deficiency 0
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2481
          nutrition disease 1022
            Malnutrition 273
              nutritional deficiency disease 256
                Avitaminosis + 216
                Keshan disease 3
                Potassium Deficiency 2
                Protein Deficiency + 10
                Zinc Deficiency + 4
                acquired night blindness 0
                biotin deficiency 1
                copper deficiency myelopathy 0
                endemic goiter 0
                iron deficiency anemia 23
                primary hypomagnesemia + 8
                protein-energy malnutrition + 5
                riboflavin deficiency 0
paths to the root