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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr19:4,875,394...4,889,384
Ensembl chr19:4,875,394...4,889,360
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12514262 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO Copper Deficiency; protein:decreased activity:erythrocyte (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12514262 PMID:15337829 RGD:1358244 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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 (zinc transporter), member 4 ISO
IEA
DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
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 chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584
JBrowse link
Ascorbic Acid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gulo gulonolactone (L-) oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30606963 NCBI chr14:66,224,235...66,246,703
Ensembl chr14:66,224,235...66,246,656
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (rat) RGD PMID:9566989 RGD:1643102 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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
IEA
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
OMIM:193100
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar
MouseDO
OMIM
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 6:127,049,865...127,059,259
Ensembl chr 6:127,049,865...127,058,371
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308
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 protein 1 ISO
ISS
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS
ISO
OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
MouseDO
ClinVar
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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-Coenzyme A: amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Bile acid conjugation defect 1 OMIM
ClinVar
PMID:12704386 PMID:23415802 PMID:25741868 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859
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 (cytosine-5) 1 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
JBrowse link
G Dnmt3l DNA (cytosine-5-)-methyltransferase 3-like ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr18:70,701,298...70,761,769
Ensembl chr18:70,701,260...70,759,202
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
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
RGD
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... RGD:11049582 NCBI chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionase (cystathionine gamma-lyase) ISO
IEA
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency
OMIM:219500
OMIM
ClinVar
MouseDO
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 7:24,069,251...24,084,637
Ensembl chr 7:24,069,688...24,086,115
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride channel, voltage-sensitive 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308
JBrowse link
G Phyh phytanoyl-CoA 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 chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
JBrowse link
G Try10 trypsin 10 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 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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 A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO
IEA
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
OMIM:277460
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 4:20,007,867...20,030,822
Ensembl chr 4:20,007,938...20,030,785
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane-associated protein ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 4:119,032,654...119,047,210
Ensembl chr 4:119,032,654...119,047,208
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
JBrowse link
G Slc14a1 solute carrier family 14 (urea transporter), member 1 ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:78,143,306...78,185,334
Ensembl chr18:78,143,306...78,185,334
JBrowse link
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532
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 chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr 1:181,642,880...181,669,966
Ensembl chr 1:181,642,900...181,670,611
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 HEAT/Armadillo 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 chr11:78,361,099...78,388,642
Ensembl chr11:78,363,156...78,388,580
JBrowse link
G Slc46a1 solute carrier family 46, member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr11:78,356,527...78,362,771
Ensembl chr11:78,356,523...78,362,885
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 IEP protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 IMP
IEA
ISO
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO
RGD
PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), member 3 ISO ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria OMIM
ClinVar
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2610028H24Rik RIKEN cDNA 2610028H24 gene ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,284,883...76,297,052
Ensembl chr10:76,284,915...76,296,944
JBrowse link
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 chr17:31,276,668...31,336,958
Ensembl chr17:31,276,649...31,336,962
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 chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104
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 chr10:78,105,008...78,188,323
Ensembl chr10:78,105,012...78,188,323
JBrowse link
G Aire autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444
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 chr16:97,656,409...97,727,248
Ensembl chr16:97,656,409...97,763,798
JBrowse link
G Cbs cystathionine beta-synthase ISO
IEA
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 due to cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
OMIM:236200 | OMIM:236250
ClinVar
MouseDO
OMIM
RGD
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr17:31,831,597...31,856,207
Ensembl chr17:31,827,868...31,856,212
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 chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739
JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,888,013...77,002,391
Ensembl chr10:76,888,012...77,002,382
JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,544,626...76,561,878
Ensembl chr10:76,544,626...76,562,002
JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464
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 chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
JBrowse link
G Dnmt3l DNA (cytosine-5-)-methyltransferase 3-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456
JBrowse link
G Fam207a family with sequence similarity 207, member A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,322,489...77,352,758
Ensembl chr10:77,322,495...77,351,619
JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172
JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,997,900...78,005,589
Ensembl chr10:77,997,900...78,005,616
JBrowse link
G Gm10024 predicted gene 10024 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,547,280...77,547,843
Ensembl chr10:77,547,291...77,547,843
JBrowse link
G Gm10272 predicted gene 10272 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,542,423...77,542,820
Ensembl chr10:77,542,460...77,542,809
JBrowse link
G Gm19402 predicted gene, 19402 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,525,791...77,526,644
Ensembl chr10:77,525,791...77,526,591
JBrowse link
G Gm19668 predicted gene, 19668 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,634,221...77,635,025
Ensembl chr10:77,634,221...77,634,967
JBrowse link
G Gm3238 predicted gene 3238 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159
JBrowse link
G Gm3250 predicted gene 3250 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376
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 chr17:32,163,743...32,253,869
Ensembl chr17:32,163,743...32,255,323
JBrowse link
G Icosl icos ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747
JBrowse link
G Itgb2 integrin beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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 chr10:77,556,420...77,557,090
Ensembl chr10:77,556,433...77,557,088
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 chr10:77,733,409...77,738,370
Ensembl chr10:77,733,409...77,738,370
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972
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 chr10:76,304,736...76,351,693
Ensembl chr10:76,304,761...76,351,691
JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISS OMIM:236200 | OMIM:236250 MouseDO NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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 chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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:28492532 More... RGD:5508189 NCBI chr13:68,708,899...68,730,288
Ensembl chr13:68,708,899...68,730,268
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase core subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,739,089...31,750,300
Ensembl chr17:31,739,089...31,750,305
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 chr10:76,597,688...76,797,951
Ensembl chr10:76,597,691...76,797,721
JBrowse link
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,187,088...76,279,988
Ensembl chr10:76,187,097...76,278,620
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,605,079...31,695,283
Ensembl chr17:31,605,184...31,695,284
JBrowse link
G Pfkl phosphofructokinase, liver, B-type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,822,781...77,845,641
Ensembl chr10:77,822,781...77,845,917
JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 1:20,128,003...20,688,306
Ensembl chr 1:20,128,003...20,688,288
JBrowse link
G Pknox1 Pbx/knotted 1 homeobox ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,783,688...31,826,667
Ensembl chr17:31,783,708...31,826,667
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 chr10:77,095,056...77,105,420
Ensembl chr10:77,095,052...77,105,409
JBrowse link
G Prdm15 PR domain containing 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr16:97,592,667...97,653,076
Ensembl chr16:97,592,667...97,653,050
JBrowse link
G Pttg1ip pituitary tumor-transforming 1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:77,417,489...77,434,566
Ensembl chr10:77,417,554...77,434,566
JBrowse link
G Pwp2 PWP2 periodic tryptophan protein homolog (yeast) ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:78,006,743...78,021,005
Ensembl chr10:78,006,743...78,020,983
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 chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:78,236,196...78,248,877
Ensembl chr10:78,236,218...78,248,877
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 chr17:32,255,087...32,281,839
Ensembl chr17:32,255,074...32,281,839
JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357
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 chr17:32,063,222...32,074,808
Ensembl chr17:32,063,224...32,074,778
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836
JBrowse link
G Slc37a1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,495,722...31,569,683
Ensembl chr17:31,505,766...31,569,713
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 chr10:76,394,180...76,406,035
Ensembl chr10:76,398,106...76,406,035
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 chr10:77,441,931...77,454,165
Ensembl chr10:77,441,931...77,454,165
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 chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251
JBrowse link
G Tff2 trefoil factor 2 (spasmolytic protein 1) ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,360,036...31,363,256
Ensembl chr17:31,360,023...31,363,256
JBrowse link
G Tff3 trefoil factor 3, intestinal ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620
JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475
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 chr10:77,743,556...77,805,746
Ensembl chr10:77,743,556...77,806,397
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 chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855
JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866
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 chr17:31,426,842...31,478,655
Ensembl chr17:31,426,847...31,465,866
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 chr10:77,458,155...77,481,824
Ensembl chr10:77,458,109...77,481,827
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 chr17:31,173,614...31,229,684
Ensembl chr17:31,173,614...31,229,684
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 chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954
JBrowse link
G Ybey ybeY metallopeptidase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr10:76,295,401...76,304,948
Ensembl chr10:76,295,401...76,304,948
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 chr16:97,746,993...97,763,850
Ensembl chr16:97,744,557...97,763,822
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 chr17:31,831,597...31,856,207
Ensembl chr17:31,827,868...31,856,212
JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr13:68,708,899...68,730,288
Ensembl chr13:68,708,899...68,730,268
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205
JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:4,759,279...4,783,362
Ensembl chr16:4,759,300...4,782,069
JBrowse link
G Arid1a AT rich interactive domain 1A (SWI-like) ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812
JBrowse link
G Chrna1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:106,418,235...106,446,310
Ensembl chr 4:106,418,235...106,446,310
JBrowse link
G Dnah14 dynein, axonemal, heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:181,404,158...181,642,306
Ensembl chr 1:181,404,124...181,643,339
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345
JBrowse link
G Fen1 flap structure specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,176,496...10,181,757
Ensembl chr19:10,176,496...10,181,533
JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25546394 PMID:25741868 PMID:28492532 More... NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr15:38,869,667...38,901,587
Ensembl chr15:38,869,429...38,901,583
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:73,800,202...74,019,138
Ensembl chr17:73,800,223...74,017,448
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr 7:140,769,847...140,773,938
Ensembl chr 7:140,769,018...140,773,918
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
JBrowse link
G Kif19a kinesin family member 19A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:114,656,215...114,681,401
Ensembl chr11:114,656,214...114,681,565
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 6:145,162,425...145,196,144
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:168,072,542...168,074,223
Ensembl chr 2:168,072,542...168,074,514
JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:108,272,227...108,287,373
Ensembl chr 3:108,272,227...108,287,373
JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr11:77,654,066...77,756,814
Ensembl chr11:77,654,072...77,756,806
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929
JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004
JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 2:90,865,810...90,876,074
Ensembl chr 2:90,865,965...90,876,074
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25124994 PMID:25741868 PMID:26242988 More... NCBI chr 3:88,624,151...88,638,355
Ensembl chr 3:88,624,145...88,638,356
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441
JBrowse link
G Serpina11 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr12:103,946,502...103,956,227
Ensembl chr12:103,946,502...103,956,216
JBrowse link
G Sftpa1 surfactant associated protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
JBrowse link
G Shoc2 Shoc2, leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564
JBrowse link
G Slc26a3 solute carrier family 26, member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr12:31,483,141...31,523,921
Ensembl chr12:31,440,870...31,523,916
JBrowse link
G Svopl SV2 related protein homolog (rat)-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:37,960,674...38,023,944
Ensembl chr 6:37,960,674...38,023,931
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,867,921...4,904,153
Ensembl chr16:4,867,921...4,904,153
JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 9:123,195,992...123,291,740
Ensembl chr 9:123,195,992...123,291,731
JBrowse link
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant OMIM
ClinVar
PMID:5453458 PMID:17951468 NCBI chr 8:117,822,590...117,860,459
Ensembl chr 8:117,822,593...117,860,459
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
JBrowse link
G Ahcy S-adenosylhomocysteine hydrolase ISO RGD PMID:12208805 RGD:1598896 NCBI chr 2:154,901,230...154,916,417
Ensembl chr 2:154,901,230...154,916,417
JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000
JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
JBrowse link
G Bche butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Cbs cystathionine beta-synthase susceptibility ISO
IEA
mRNA:decreased expression, protein:decreased expression
OMIM:603174
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
RGD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr17:31,831,597...31,856,207
Ensembl chr17:31,827,868...31,856,212
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714
JBrowse link
G Cxcl1 chemokine (C-X-C motif) ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
JBrowse link
G Cxcl3 chemokine (C-X-C motif) ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
JBrowse link
G Cxcl5 chemokine (C-X-C motif) ligand 5 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540
JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093
JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676
JBrowse link
G F12 coagulation factor XII (Hageman factor) treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr17:47,036,590...47,040,137
Ensembl chr17:47,036,590...47,040,094
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
JBrowse link
G Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1) treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr11:56,902,342...57,221,070
Ensembl chr11:56,902,213...57,221,070
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:24739303 RGD:13204791 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr13:68,708,899...68,730,288
Ensembl chr13:68,708,899...68,730,268
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
JBrowse link
G Nppb natriuretic peptide type B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 7:127,590,545...127,593,039
Ensembl chr 7:127,588,880...127,593,039
JBrowse link
G Slc46a1 solute carrier family 46, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr11:78,356,527...78,362,771
Ensembl chr11:78,356,523...78,362,885
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 treatment IEP RGD PMID:24739303 RGD:13204791 NCBI chr  X:20,736,405...20,740,976
Ensembl chr  X:20,736,405...20,740,974
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
hypochromic microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 Iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914
JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Steap3 STEAP family member 3 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435
JBrowse link
G Tfrc transferrin receptor IEP mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcytic anemia with liver iron overload
CTD
ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Steap3 STEAP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO OMIM NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steap3 STEAP family member 3 ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar
PMID:22031863 NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968
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 chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IMP RGD PMID:22615579 RGD:11558021 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
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 6:127,049,865...127,059,259
Ensembl chr 6:127,049,865...127,058,371
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr 7:140,769,847...140,773,938
Ensembl chr 7:140,769,018...140,773,918
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308
JBrowse link
G Phyh phytanoyl-CoA 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 chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
JBrowse link
G Try10 trypsin 10 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 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 9:74,017,613...74,190,485
Ensembl chr 9:74,017,638...74,190,590
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 protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 OMIM
ClinVar
PMID:17033621 PMID:17033625 PMID:21050253 PMID:25741868 PMID:28492532 NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968
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
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
RGD
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719
JBrowse link
G Cubn cubilin (intrinsic factor-cobalamin receptor) ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:14,031,642...14,060,846
Ensembl chr 2:13,855,093...14,060,946
JBrowse link
G Slc39a12 solute carrier family 39 (zinc transporter), member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:14,393,132...14,499,788
Ensembl chr 2:14,393,127...14,499,788
JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:13,659,745...13,798,331
Ensembl chr 2:13,655,832...13,798,875
JBrowse link
G Stam signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:14,078,910...14,153,296
Ensembl chr 2:14,078,909...14,154,445
JBrowse link
G Traf3 TNF receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr12:111,132,755...111,233,589
Ensembl chr12:111,132,804...111,233,587
JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:13,509,690...13,549,618
Ensembl chr 2:13,513,825...13,549,479
JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
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 chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
JBrowse link
G Cubn cubilin (intrinsic factor-cobalamin receptor) 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
DNA:missense mutation:cds:p.P1297L (human)
OMIM
ClinVar
RGD
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 More... RGD:61796 NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless 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:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:11071839 NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 OMIM
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr19:18,707,566...18,869,885
Ensembl chr19:18,727,347...18,869,875
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 2:126,633,478...126,718,181
Ensembl chr 2:126,633,485...126,718,150
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 (A4) precursor protein ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide severity IEP
IAGP
ISO
mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)
RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532
JBrowse link
G C1qa complement component 1, q subcomponent, alpha polypeptide ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cst3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
JBrowse link
G Fn1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
JBrowse link
G Gsr glutathione reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
JBrowse link
G Hamp hepcidin antimicrobial peptide IMP
ISO
mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
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 chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
JBrowse link
G Il6 interleukin 6 ISO associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)
RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
G Itga2 integrin alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr13:114,969,617...115,068,636
Ensembl chr13:114,969,617...115,068,636
JBrowse link
G Kat5 K(lysine) acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265
JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Tfrc transferrin receptor ISO
IMP
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 chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr15:78,323,867...78,352,848
Ensembl chr15:78,323,867...78,352,834
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trf 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:28492532 PMID:11703331 RGD:1601513 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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, plasma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr19:39,378,000...39,451,547
Ensembl chr19:39,378,000...39,451,519
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor-like ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride channel, voltage-sensitive 6 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25736335 PMID:28492532 NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278
JBrowse link
G Gm13201 predicted gene 13201 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 4:148,140,315...148,160,194
Ensembl chr 4:148,155,849...148,159,877
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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, sub-family D (ALD), member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:23141461 PMID:25234635 PMID:28572511 PMID:30651581 PMID:33845046 NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187
JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr12:28,487,794...28,602,941
Ensembl chr12:28,487,794...28,602,398
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:72,986,398...73,011,430
Ensembl chr  X:72,986,398...73,009,963
JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382
JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO
IEA
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism
OMIM:277400
OMIM
ClinVar
CTD
MouseDO
PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 PMID:16311595 More... NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603
JBrowse link
G Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 NCBI chr 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive OMIM
ClinVar
PMID:25741868 PMID:29396438 NCBI chr 4:116,542,796...116,557,197
Ensembl chr 4:116,542,741...116,558,019
JBrowse link
G Thap11 THAP domain containing 11 IEA OMIM:277400 MouseDO NCBI chr 8:106,581,735...106,583,582
Ensembl chr 8:106,581,764...106,583,582
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 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 OMIM
ClinVar
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813
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 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 1:24,296,764...24,627,870
Ensembl chr 1:24,300,971...24,626,553
JBrowse link
G Col9a1 collagen, type IX, alpha 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 1:24,216,670...24,291,819
Ensembl chr 1:24,216,691...24,291,765
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:16199547 PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 More... NCBI chr 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382
JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG OMIM
ClinVar
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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, sub-family D (ALD), member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187
JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia OMIM
ClinVar
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 More... NCBI chr15:78,323,867...78,352,848
Ensembl chr15:78,323,867...78,352,834
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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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 (zinc transporter), 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:25741868 NCBI chr 4:134,070,357...134,081,795
Ensembl chr 4:134,070,492...134,081,795
JBrowse link
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882
JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 IEP protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein with ASARM motif (bone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr 5:104,473,195...104,486,477
Ensembl chr 5:104,473,195...104,486,477
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 chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
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 (sodium phosphate), member 1 ISO protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:15355967 RGD:7243096 NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO mRNA, protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:17804457 RGD:8554499 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029
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:11518780 PMID:15856319 More... NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
JBrowse link
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576
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 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Gsr glutathione reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865262 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
JBrowse link
G Insr insulin receptor treatment ISO RGD PMID:19880292 RGD:4107735 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO protein:decreased expression:liver RGD PMID:5954822 RGD:2298983 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: therapeutic CTD PMID:16214328 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
protein-energy malnutrition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO protein:decreased expression:serum: RGD PMID:9235366 RGD:11036082 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO mRNA:increased expression:liver RGD PMID:11952159 RGD:631316 NCBI chr10:96,452,863...96,458,675
Ensembl chr10:96,452,868...96,458,671
JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4I1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18725894 RGD:2301376 NCBI chr 8:121,394,964...121,400,948
Ensembl chr 8:121,394,961...121,400,946
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO mRNA:decreased expression:ovary (rat) RGD PMID:20018485 RGD:4890381 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394
JBrowse link
G Lipc lipase, hepatic ISO protein:reduced expression:plasma (rat) RGD PMID:7666262 RGD:2308792 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy S-adenosylhomocysteine hydrolase ISO RGD PMID:11575573 RGD:1598897 NCBI chr 2:154,901,230...154,916,417
Ensembl chr 2:154,901,230...154,916,417
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: Lethal osteosclerotic bone dysplasia
DNA:deletion, snps, missense mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2
ClinVar
OMIM
RGD
PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 PMID:11062458 RGD:1598986 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576
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
IEA
OMIM:248250 OMIM
MouseDO
NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 OMIM
ClinVar
PMID:17671655 PMID:25741868 PMID:28492532 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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 chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement OMIM
ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 6 OMIM
ClinVar
PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
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 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor IMP RGD PMID:12671052 RGD:734698 NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO
IEA
IMP
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IEA OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO
IEA
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209 RGD:1624354 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
scurvy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gulo gulonolactone (L-) oxidase ISO OMIM NCBI chr14:66,224,235...66,246,703
Ensembl chr14:66,224,235...66,246,656
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 aminolevulinic acid synthase 2, erythroid onset ISO ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
OMIM
ClinVar
CTD
RGD
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:149,330,413...149,353,618
Ensembl chr  X:149,330,371...149,353,634
JBrowse link
G Apex2 apurinic/apyrimidinic endonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:149,286,625...149,371,175
Ensembl chr  X:149,302,515...149,372,864
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:28492532 NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570
JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen treatment ISO RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402
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 (thiamine transporter), member 2 ISO
IEA
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive myelodysplasia
OMIM:249270
OMIM
ClinVar
MouseDO
PMID:9399900 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10978358 More... NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954
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 OMIM
ClinVar
PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 PMID:12091374 More... NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159
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 chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment IEP
ISO
RGD PMID:25451926 PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984
JBrowse link
G Cyp2c52-ps cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene treatment ISO RGD PMID:11724755 RGD:13782260 NCBI chr19:38,965,106...38,992,071
Ensembl chr19:38,965,091...38,991,733
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr15:76,386,212...76,396,225
Ensembl chr15:76,386,215...76,396,153
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Tgm1 transglutaminase 1, K polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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 ISO RGD PMID:12544342 RGD:1599455 NCBI chr 1:93,062,962...93,073,143
Ensembl chr 1:93,062,962...93,073,143
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, sub-family D (ALD), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922874 NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187
JBrowse link
G Amn amnionless ISO ClinVar Annotator: match by term: Cobalamin deficiency ClinVar PMID:25741868 NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
JBrowse link
G Calr calreticulin ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
JBrowse link
G Cbs cystathionine beta-synthase ISO protein:decreased expression:liver (rat) RGD PMID:2732804 RGD:40903037 NCBI chr17:31,831,597...31,856,207
Ensembl chr17:31,827,868...31,856,212
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:16716410 RGD:2313422 NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G Cfl1 cofilin 1, non-muscle ISO protein:increased expression:kidney (rat) RGD PMID:25982389 RGD:11352764 NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229
JBrowse link
G Fut2 fucosyltransferase 2 ISO ClinVar Annotator: match by term: Vitamin b12 plasma level quantitative trait locus 1 OMIM
ClinVar
PMID:7876234 PMID:7876235 PMID:8755920 PMID:8928486 PMID:12692541 More... NCBI chr 7:45,298,015...45,315,818
Ensembl chr 7:45,298,015...45,315,818
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO protein:decreased expression,decreased activity:liver: RGD PMID:14646334 RGD:8694080 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:22568797 RGD:11553830 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
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 ISO RGD PMID:3105848 RGD:6483561 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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 chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs10898191(human) RGD PMID:22785457 RGD:11251488 NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO RGD PMID:28365874 RGD:124713570 NCBI chr 2:56,996,845...57,014,018
Ensembl chr 2:56,996,842...57,014,015
JBrowse link
G Retn resistin ISO mRNA:increased expression:liver RGD PMID:21994008 RGD:7207230 NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:serum: RGD PMID:22677566 RGD:7241033 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) 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 chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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 chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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 ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A OMIM
ClinVar
RGD
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More... RGD:32716373 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
JBrowse link
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:24033266 More... NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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 OMIM
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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 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 chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
JBrowse link
G Try10 trypsin 10 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 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) 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
compared to untreated Vdr mutant
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:
OMIM
ClinVar
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 chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
Vitamin E Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029
JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 4:20,007,867...20,030,822
Ensembl chr 4:20,007,938...20,030,785
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 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
JBrowse link
G Ggcx gamma-glutamyl carboxylase no_association ISO RGD PMID:11154138 RGD:11040513 NCBI chr 6:72,391,262...72,408,089
Ensembl chr 6:72,391,291...72,407,695
JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr14:30,271,088...30,296,681
Ensembl chr14:30,270,316...30,296,677
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 IEP mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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 chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO
IEA
IAGP
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
OMIM:300554 | 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:3394683 PMID:7550339 PMID:9097956 PMID:9106524 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308
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 channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 More... NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597
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 ISO mRNA:decreased expression:liver (rat) RGD PMID:20404036 RGD:12904966 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO mRNA:increased expression:lung, kidney (rat) RGD PMID:20859692 RGD:11553849 NCBI chr 2:90,892,126...90,900,754
Ensembl chr 2:90,892,136...90,900,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15244
    Nutritional and Metabolic Diseases 5911
      nutrition disease 869
        Malnutrition 299
          nutritional deficiency disease 290
            Avitaminosis + 187
            Keshan disease 3
            Potassium Deficiency 2
            Protein Deficiency + 10
            Zinc Deficiency + 4
            acquired night blindness 0
            biotin deficiency 0
            copper deficiency myelopathy 0
            endemic goiter 0
            folic acid deficiency anemia + 4
            iron deficiency anemia + 91
            pernicious anemia + 1
            primary hypomagnesemia + 7
            protein-energy malnutrition + 5
            pyridoxine deficiency anemia 1
            riboflavin deficiency 0
Path 2
Term Annotations click to browse term
  disease 15244
    Nutritional and Metabolic Diseases 5911
      disease of metabolism 5911
        acquired metabolic disease 1992
          nutrition disease 869
            Malnutrition 299
              nutritional deficiency disease 290
                Avitaminosis + 187
                Keshan disease 3
                Potassium Deficiency 2
                Protein Deficiency + 10
                Zinc Deficiency + 4
                acquired night blindness 0
                biotin deficiency 0
                copper deficiency myelopathy 0
                endemic goiter 0
                folic acid deficiency anemia + 4
                iron deficiency anemia + 91
                pernicious anemia + 1
                primary hypomagnesemia + 7
                protein-energy malnutrition + 5
                pyridoxine deficiency anemia 1
                riboflavin deficiency 0
paths to the root