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: Malnutrition
Accession: DOID:9005695
browse the term
Definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement.
Synonyms: exact_synonym: Malnourishment; Malnourishments; Nutritional Deficiencies; Nutritional Deficiency; Undernutrition
primary_id: MESH:D044342
xref: EFO:0008572
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Cbs
cystathionine beta-synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16709328
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16709328
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16709328
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:cerebral cortex
RGD
PMID:1908892
RGD:40902817
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Nefm
neurofilament, medium polypeptide
ISO
protein:increased expression:cerebral cortex
RGD
PMID:1908892
RGD:40902817
NCBI chr14:68,356,994...68,362,453
Ensembl chr14:68,320,039...68,362,295
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Slc39a4
solute carrier family 39 (zinc transporter), member 4
ISO IAGP
DNA:deletions, snp, missense mutations:multiple (human) ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition OMIM:201100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:16199547 PMID:16819703 PMID:17483098 PMID:19370757 PMID:20981092 PMID:21165302 PMID:21762381 PMID:24033266 PMID:25741868 PMID:26351177 PMID:28492532 PMID:31979155 PMID:33837739 PMID:34625996 PMID:12068297 More...
RGD:1599005
NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584
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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
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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
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Fgf23
fibroblast growth factor 23
ISO IAGP
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT OMIM:193100 DNA:missense mutation:cds:526C>T,p.R176W (human)
CTD ClinVar MouseDO OMIM RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:35738466 PMID:11062477 PMID:19655082 More...
RGD:1598933 , RGD:10044239
NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371
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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 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
NCBI chr X:155,945,071...156,198,282
Ensembl chr X:155,945,071...156,198,308
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Dmp1
dentin matrix protein 1
ISO IAGP
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
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
ClinVar
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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Baat
bile acid-Coenzyme A: amino acid N-acyltransferase
ISO
ClinVar Annotator: match by term: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1
OMIM ClinVar
PMID:12704386 PMID:17495420 PMID:23415802 PMID:25741868 PMID:25741914 PMID:25741916 PMID:28492532 More...
NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557
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Btd
biotinidase
ISO
ClinVar Annotator: match by term: Biotin deficiency
ClinVar
PMID:88555 PMID:9099842 PMID:9158148 PMID:10400129 PMID:11313766 PMID:11668630 PMID:12359137 PMID:15060693 PMID:15776412 PMID:17185019 PMID:19757147 PMID:20301497 PMID:20556795 PMID:21228398 PMID:22698809 PMID:22975760 PMID:24033266 PMID:24123366 PMID:24797656 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25741868 PMID:25754625 PMID:25795614 PMID:25967232 PMID:26334177 PMID:26361991 PMID:26467025 PMID:26589311 PMID:26810761 PMID:26990548 PMID:27207447 PMID:27329734 PMID:27657684 PMID:28492532 PMID:28498829 PMID:28649539 PMID:29359854 PMID:29728376 PMID:30551056 PMID:34136440 PMID:35195902 More...
NCBI chr14:31,363,014...31,390,154
Ensembl chr14:31,362,985...31,390,536
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Ephb4
Eph receptor B4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM CTD ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 PMID:30578106 PMID:32267001 PMID:33240318 More...
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
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Mdfic
MyoD family inhibitor domain containing
IAGP ISO
OMIM:617300 ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO ClinVar
PMID:25741868 PMID:35235341
NCBI chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168
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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
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Dnmt1
DNA methyltransferase 1
ISO
mRNA:increased expression:liver:
RGD
PMID:17724018
RGD:9588267
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Dnmt3l
DNA 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
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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
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Cblif
cobalamin binding intrinsic factor
ISO
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency CTD Direct Evidence: marker/mechanism DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 PMID:17576681 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25640679 PMID:25741868 PMID:27577878 PMID:28492532 PMID:14695536 More...
RGD:11049582
NCBI chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
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Cth
cystathionine gamma lyase
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency OMIM:219500
OMIM CTD ClinVar MouseDO
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 More...
NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714
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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 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:25741909 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
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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
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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 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 More...
NCBI chr X:155,945,071...156,198,282
Ensembl chr X:155,945,071...156,198,308
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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 PMID:28492532 More...
NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
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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 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:25741868 PMID:25741905 PMID:25741909 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:31557081 PMID:35738466 More...
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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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
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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
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Ttpa
tocopherol (alpha) transfer protein
ISO IAGP
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency OMIM:277460 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 PMID:8965888 PMID:9270601 PMID:9463307 PMID:9536098 PMID:9588854 PMID:9931538 PMID:10360777 PMID:10896705 PMID:11013295 PMID:11752462 PMID:11916749 PMID:12039660 PMID:12112220 PMID:12470185 PMID:12899840 PMID:12907280 PMID:14657365 PMID:15065857 PMID:15300460 PMID:15953402 PMID:16199547 PMID:16819822 PMID:17049453 PMID:17576681 PMID:18414213 PMID:18458085 PMID:18458655 PMID:19566498 PMID:20301419 PMID:21110980 PMID:21228398 PMID:22479462 PMID:22696689 PMID:23077608 PMID:23445347 PMID:23599266 PMID:23713716 PMID:24033266 PMID:24369383 PMID:25262571 PMID:25614784 PMID:25741868 PMID:26068213 PMID:26467025 PMID:27021565 PMID:27274910 PMID:27307040 PMID:28492532 PMID:28945198 PMID:30902645 PMID:31429931 PMID:31970222 PMID:33652732 PMID:34426522 PMID:34563650 PMID:34759169 More...
NCBI chr 4:20,007,889...20,030,823
Ensembl chr 4:20,007,938...20,030,785
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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
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Fcgr3
Fc receptor, IgG, low affinity III
ISO
DNA:polymorphism: :
RGD
PMID:19129718
RGD:11100009
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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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
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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
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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
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Col1a1
collagen, type I, alpha 1
ISO
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Col1a2
collagen, type I, alpha 2
ISO
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22340208
NCBI chr X:16,485,937...16,554,051
Ensembl chr X:16,485,937...16,554,057
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Nphs1
nephrosis 1, nephrin
ISO
associated with maternal low protein diet; protein:decreased expression:kidney (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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Nphs2
nephrosis 2, podocin
ISO
associated with maternal low protein diet; protein:decreased expression:kidney (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Zeb2
zinc finger E-box binding homeobox 2
ISO
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407
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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
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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
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia CTD Direct Evidence: marker/mechanism DNA:mutations:cds:multiple (human)
OMIM ClinVar CTD RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
RGD:9588626
NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611
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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 PMID:20686069 PMID:21489556 PMID:22345511 PMID:25741868 PMID:27664775 PMID:28492532 More...
NCBI chr11:78,361,099...78,388,642
Ensembl chr11:78,363,156...78,388,580
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Slc46a1
solute carrier family 46, member 1
ISO
ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 PMID:18559978 PMID:19176287 PMID:19740703 PMID:20301716 PMID:20686069 PMID:20795774 PMID:21333572 PMID:21346251 PMID:21489556 PMID:22345511 PMID:22843796 PMID:25741868 PMID:27664775 PMID:28492532 More...
NCBI chr11:78,356,527...78,362,771
Ensembl chr11:78,356,523...78,362,885
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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
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
IMP IAGP 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
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Slc34a3
solute carrier family 34 (sodium phosphate), member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:22387237 PMID:24033266 PMID:24176905 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29505567 PMID:29809158 PMID:30798342 PMID:31440709 PMID:31672324 PMID:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34805638 More...
NCBI chr 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376
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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
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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
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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
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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...78,188,335
Ensembl chr10:78,105,012...78,188,323
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Aire
autoimmune regulator
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
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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
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Cbs
cystathionine beta-synthase
ISO IAGP
DNA:point mutation:exon:G307S ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: CBS-related condition | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive CTD Direct Evidence: marker/mechanism OMIM:236200 | OMIM:236250
ClinVar CTD MouseDO OMIM RGD
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 PMID:7564249 PMID:7581402 PMID:7611293 PMID:7635485 PMID:7762555 PMID:7849717 PMID:7967489 PMID:7981678 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8744616 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8940285 PMID:8990018 PMID:9156316 PMID:9232191 PMID:9266356 PMID:9361025 PMID:9536098 PMID:9587029 PMID:9590298 PMID:9675031 PMID:9708897 PMID:9813456 PMID:9864922 PMID:9870207 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10363126 PMID:10364517 PMID:10408774 PMID:10462600 PMID:10531322 PMID:10687314 PMID:10780316 PMID:10807759 PMID:11013450 PMID:11204591 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11522031 PMID:11524006 PMID:11553052 PMID:11748855 PMID:11774777 PMID:11926827 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12379655 PMID:12552044 PMID:12686134 PMID:12815602 PMID:12828591 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14739681 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:15494741 PMID:15993874 PMID:16167124 PMID:16199547 PMID:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 PMID:16470595 PMID:16479318 PMID:16619244 PMID:16786517 PMID:17056636 PMID:17069888 PMID:17072863 PMID:17319270 PMID:17327360 PMID:17352495 PMID:17540596 PMID:17576681 PMID:17601930 PMID:18194900 PMID:18201569 PMID:18280597 PMID:18423051 PMID:18454451 PMID:18708589 PMID:18805305 PMID:18950795 PMID:19232736 PMID:19370759 PMID:19429038 PMID:19819175 PMID:19906435 PMID:19914636 PMID:20031640 PMID:20051935 PMID:20066033 PMID:20308073 PMID:20455263 PMID:20490928 PMID:20506325 PMID:20567906 PMID:20601281 PMID:20694756 PMID:20821054 PMID:20871414 PMID:21030686 PMID:21062078 PMID:21240075 PMID:21308989 PMID:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22002135 PMID:22069143 PMID:22140583 PMID:22267502 PMID:22333527 PMID:22353391 PMID:22382802 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22977242 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23812867 PMID:23934999 PMID:23974653 PMID:23981774 PMID:24033266 PMID:24138954 PMID:24211323 PMID:24613005 PMID:24990611 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25326637 PMID:25331909 PMID:25336647 PMID:25455305 PMID:25516723 PMID:25640679 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25939784 PMID:26464485 PMID:26667307 PMID:26750749 PMID:26990548 PMID:27243974 PMID:27604992 PMID:27681349 PMID:27861796 PMID:27959664 PMID:28097321 PMID:28152038 PMID:28303347 PMID:28421128 PMID:28488385 PMID:28492532 PMID:28550590 PMID:28583326 PMID:28835823 PMID:28980096 PMID:29158550 PMID:29205322 PMID:29326875 PMID:29352562 PMID:29508359 PMID:29590070 PMID:29600437 PMID:29650765 PMID:30019023 PMID:30050925 PMID:30076350 PMID:30165906 PMID:30202406 PMID:30246729 PMID:30380942 PMID:30556376 PMID:30732165 PMID:30873612 PMID:31139930 PMID:31211624 PMID:31240737 PMID:31279624 PMID:31301157 PMID:31664448 PMID:32000841 PMID:32232970 PMID:32245022 PMID:32768567 PMID:32769498 PMID:33057012 PMID:33223529 PMID:33335839 PMID:33616328 PMID:33726816 PMID:33985475 PMID:34426522 PMID:34449519 PMID:34449521 PMID:34818515 PMID:34842599 PMID:35281663 PMID:36588553 PMID:7506602 More...
RGD:1600622
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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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
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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...77,002,351
Ensembl chr10:76,888,012...77,002,382
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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...76,561,869
Ensembl chr10:76,544,626...76,562,002
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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
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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
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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
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Dnmt3l
DNA 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
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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
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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
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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
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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
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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
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Krtap10-10
keratin associated protein 10-10
ISO
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
ClinVar
PMID:10338090 PMID:12124992 PMID:28492532
NCBI chr10:77,671,781...77,673,085
Ensembl chr10:77,671,781...77,673,086
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Krtap10-22
keratin associated protein 10-22
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
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Krtap10-23
keratin associated protein 10-23
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
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Krtap10-33
keratin associated protein 10-33
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
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Krtap10-34
keratin associated protein 10-34
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
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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
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Krtap12-22
keratin associated protein 12-22
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
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Krtap12-23
keratin associated protein 12-23
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
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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
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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
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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
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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 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 PMID:34356170 More...
NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Homocystinuria
ClinVar
PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25741915 PMID:25856670 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 More...
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
DNA:polymorphisms,mutations: : ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15714522 More...
RGD:5508189
NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268
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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
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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
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Pcnt
pericentrin (kendrin)
ISO
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
ClinVar
PMID:10338090 PMID:12124992 PMID:28492532
NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620
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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...31,695,284
Ensembl chr17:31,605,184...31,695,284
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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
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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
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Pknox1
Pbx/knotted 1 homeobox
ISO
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
ClinVar
PMID:10338090 PMID:12124992 PMID:28492532
NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667
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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
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Prdm15
PR domain containing 15
ISO
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
ClinVar
PMID:10338090 PMID:12124992 PMID:28492532
NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050
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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
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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
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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
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Rrp1
ribosomal RNA processing 1
ISO
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
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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
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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
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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
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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
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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
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Slx9
SLX9 ribosome biogenesis factor
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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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
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 PMID:7635485 PMID:7762555 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8990018 PMID:9361025 PMID:9587029 PMID:9708897 PMID:9864922 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10807759 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12552044 PMID:12686134 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14739681 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16479318 PMID:16619244 PMID:17069888 PMID:17072863 PMID:17540596 PMID:18201569 PMID:18805305 PMID:19232736 PMID:19819175 PMID:20066033 PMID:20308073 PMID:20490928 PMID:20506325 PMID:20567906 PMID:21520339 PMID:21626167 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:22985361 PMID:23592311 PMID:23974653 PMID:24033266 PMID:24211323 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25326637 PMID:25331909 PMID:25516723 PMID:25741868 PMID:26750749 PMID:27861796 PMID:27959664 PMID:28097321 PMID:28488385 PMID:28492532 PMID:28583326 PMID:29650765 PMID:30050925 PMID:32000841 PMID:32232970 PMID:32245022 PMID:33057012 PMID:33223529 PMID:33985475 PMID:34426522 More...
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
CTD OMIM ClinVar
PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:15979034 PMID:16199547 PMID:17576681 PMID:20120036 PMID:22887477 PMID:24033266 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:30041674 PMID:31063268 PMID:33980297 More...
NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268
G
4930558K02Rik
RIKEN cDNA 4930558K02 gene
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741913 PMID:26036949
NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205
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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
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
G
Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069
G
Arid1a
AT-rich interaction domain 1A
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
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
G
Chrna1
cholinergic receptor nicotinic alpha 1 subunit
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
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
G
Dhcr24
24-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 4:106,418,279...106,446,310
Ensembl chr 4:106,418,235...106,446,310
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
G
Dnah9
dynein, axonemal, heavy chain 9
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564
NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377
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
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
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
G
Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
G
Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:25741914 PMID:26036949
NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583
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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
G
Gusb
glucuronidase, beta
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:25741898 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
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Hba-a2
hemoglobin alpha, adult chain 2
ISO
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 PMID:20412082 PMID:20507641 PMID:20642338 PMID:23822871 PMID:24275569 PMID:24351118 PMID:24829075 PMID:25741868 PMID:26460264 PMID:26467025 PMID:27173219 PMID:27271331 PMID:29749692 PMID:32860378 PMID:33364739 PMID:36900038 More...
NCBI chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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
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Kif19a
kinesin family member 19A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr11:114,656,227...114,681,565
Ensembl chr11:114,656,214...114,681,565
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...145,197,631
Ensembl chr 6:145,162,425...145,195,965
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Lztr1
leucine-zipper-like transcriptional regulator, 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis
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
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
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
G
Myo18a
myosin XVIIIA
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr11:77,654,066...77,756,806
Ensembl chr11:77,654,072...77,756,806
G
Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949 PMID:28492532 PMID:31130284
NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
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
G
Neb
nebulin
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:18330676 PMID:25205138 PMID:25741868 PMID:25741916 PMID:26036949 PMID:26841830 PMID:28492532 More...
NCBI chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486
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
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
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:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
G
Pigc
phosphatidylinositol glycan anchor biosynthesis, class C
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741913 PMID:26036949
NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004
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
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 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074
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:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 More...
NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356
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
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Ryr1
ryanodine receptor 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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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
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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
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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
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Shoc2
Shoc2, leucine rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949
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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
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Thsd1
thrombospondin, type I, domain 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741915 PMID:26036949 PMID:28749478
NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
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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
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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
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Lars2
leucyl-tRNA synthetase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM CTD ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731
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Bco1
beta-carotene oxygenase 1
ISO
ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5453458 PMID:17951468 PMID:25741868
NCBI chr 8:117,822,590...117,860,459
Ensembl chr 8:117,822,593...117,860,459
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Agt
angiotensinogen
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
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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
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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
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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
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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
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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
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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
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Cbs
cystathionine beta-synthase
susceptibility
ISO IAGP
mRNA:decreased expression, protein:decreased expression CTD Direct Evidence: marker/mechanism associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) ClinVar Annotator: match by term: Hyperhomocysteinemia OMIM:603174
CTD ClinVar MouseDO RGD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 PMID:19028542 PMID:19204075 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25741868 PMID:28492532 PMID:16636197 PMID:10704624 More...
RGD:1600624 , RGD:40903036
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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Ccl2
C-C motif chemokine 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
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Cth
cystathionine gamma lyase
ISO
ClinVar Annotator: match by term: Homocysteine, total plasma, elevated
ClinVar
PMID:15151507 PMID:25741868
NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714
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Cxcl1
C-X-C motif chemokine 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
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Cxcl3
C-X-C motif chemokine 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
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Cxcl5
C-X-C motif chemokine 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
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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
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Dyrk1a
dual-specificity tyrosine phosphorylation regulated kinase 1a
ISO
protein:decreased expression:heart (rat)
RGD
PMID:19906449
RGD:401959215
NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376
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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
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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
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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
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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
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F2
coagulation factor II
treatment
ISO
RGD
PMID:16046705
RGD:1601105
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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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
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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
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Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16317120
NCBI chr17:47,036,590...47,040,091
Ensembl chr17:47,036,590...47,040,094
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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
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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
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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
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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
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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
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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
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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
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Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:missense mutations, nonsense mutations:CDS:multiple (human) associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 PMID:16575899 PMID:17387702 PMID:18234410 PMID:18551038 PMID:19204075 PMID:19646848 PMID:10679944 PMID:12471611 More...
RGD:1601421 , RGD:10449400
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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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
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16575899 PMID:17369066
NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268
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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
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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
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17292331 PMID:19028542
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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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
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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
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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
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Timp1
tissue inhibitor of metalloproteinase 1
treatment
IEP
RGD
PMID:24739303
RGD:13204791
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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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
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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
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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
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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
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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
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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 PMID:16439678 PMID:25741868 PMID:28492532 PMID:35457224 More...
NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
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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
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Slc11a2
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
ISO
ClinVar Annotator: match by term: SLC11A2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35457224
NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
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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
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Dmp1
dentin matrix protein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:24033266 PMID:25741868 PMID:35738466
NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 More...
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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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
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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 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:21880793 PMID:25741868 PMID:26186302 PMID:28492532 PMID:35738466 PMID:14988389 More...
RGD:10044208
NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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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 PMID:11004247 PMID:11468271 PMID:12414858 PMID:12727977 PMID:16199547 PMID:18162710 PMID:18625346 PMID:19219621 PMID:22261628 PMID:22695891 PMID:23466123 PMID:24684036 PMID:24836714 PMID:25031893 PMID:25741868 PMID:25741895 PMID:26040324 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29707405 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:35738466 More...
NCBI chr X:155,945,071...156,198,282
Ensembl chr X:155,945,071...156,198,308
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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 PMID:28492532 More...
NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
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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 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
ClinVar
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:25741868 PMID:25741905 PMID:25741909 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:31557081 PMID:35738466 More...
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:31959358
NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590
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Dmp1
dentin matrix protein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 PMID:17576681 PMID:19007919 PMID:21050253 PMID:25741868 PMID:25741895 PMID:28492532 More...
NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.Y901S (human)
ClinVar OMIM CTD RGD
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:29244957 PMID:29979387 PMID:31826312 PMID:34609116 PMID:35738466 PMID:20137773 PMID:20137772 More...
RGD:6906930 , RGD:6906931
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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Amn
amnionless
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 PMID:30691194 PMID:32045704 PMID:33491342 More...
NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
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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
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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
NCBI chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26040326 PMID:26467025 PMID:27197912 PMID:28204945 PMID:28492532 PMID:29801666 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 More...
NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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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...14,060,847
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Slc39a12
solute carrier family 39 (zinc transporter), member 12
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr 2:14,345,476...14,499,787
Ensembl chr 2:14,393,127...14,499,788
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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...13,798,659
Ensembl chr 2:13,655,832...13,798,875
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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 2:14,078,912...14,152,351
Ensembl chr 2:14,078,909...14,154,445
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Traf3
TNF receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587
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Trdmt1
tRNA aspartic acid methyltransferase 1
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr 2:13,509,690...13,549,475
Ensembl chr 2:13,513,825...13,549,479
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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
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Amn
amnionless
ISO
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 PMID:32045704 More...
NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
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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
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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
NCBI chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P1297L (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:28492532 PMID:29801666 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 PMID:10080186 More...
RGD:61796
NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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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:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:32045704 PMID:17114957 More...
RGD:11071839
NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
ClinVar
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
NCBI chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152
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Trpm6
transient receptor potential cation channel, subfamily M, member 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
OMIM CTD ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24030239 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532 PMID:33565749 PMID:34906502 More...
NCBI chr19:18,707,566...18,869,885
Ensembl chr19:18,727,347...18,869,875
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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
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App
amyloid beta 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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...54,819,812
Ensembl chr 9:54,771,073...54,819,814
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Itga2
integrin alpha 2
ISO
DNA:SNP: :807C>T (human)
RGD
PMID:12225391
RGD:11530068
NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
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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
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Pon1
paraoxonase 1
treatment
ISO
protein:decreased activity:serum (human)
RGD
PMID:16684543 PMID:26926576
RGD:11552586 , RGD:11553834
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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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
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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
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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
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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 PMID:26303393 More...
RGD:11062096 , RGD:11062105 , RGD:11062104
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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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
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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
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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:25741868 PMID:28492532 PMID:11703331 More...
RGD:1601513
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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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
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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
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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
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
ISO
mRNA,protein:increased expression:blood cells, serum:
RGD
PMID:26893848
RGD:124713562
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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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
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Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168
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Thsd1
thrombospondin, type I, domain 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
OMIM ClinVar
PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 More...
NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
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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
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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
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9536098 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10679944 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11395038 PMID:11418485 PMID:11590551 PMID:11710708 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11916316 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:15048559 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16199547 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17576681 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18854913 PMID:19031955 PMID:19648163 PMID:19810817 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20472929 PMID:20490923 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21131308 PMID:21387541 PMID:21480888 PMID:21534867 PMID:21644011 PMID:21778025 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22887477 PMID:22947400 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23526309 PMID:23648444 PMID:24033266 PMID:24241962 PMID:24726568 PMID:24797679 PMID:24908438 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25079578 PMID:25110820 PMID:25162892 PMID:25177243 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25741905 PMID:25758715 PMID:25778468 PMID:25856670 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27104192 PMID:27118298 PMID:27217051 PMID:27399166 PMID:27527345 PMID:27743313 PMID:27768236 PMID:27781293 PMID:27992285 PMID:28241805 PMID:28492532 PMID:28514598 PMID:28696419 PMID:29246599 PMID:29284203 PMID:29391032 PMID:29589488 PMID:29911750 PMID:30684021 PMID:31068897 PMID:31069529 PMID:31462756 PMID:31870219 PMID:32161077 PMID:32230794 PMID:32451826 PMID:32612964 PMID:32695297 PMID:32939339 PMID:33089527 PMID:33125268 PMID:34015165 PMID:34214447 PMID:34845156 PMID:35008593 PMID:35322348 PMID:35499206 PMID:35578252 PMID:36901693 More...
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Cenpt
centromere protein T
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:25741868 PMID:28449119
NCBI chr 8:106,571,297...106,581,678
Ensembl chr 8:106,571,305...106,579,910
G
Flna
filamin, alpha
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426
G
Hcfc1
host cell factor C1
ISO IAGP
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 CTD Direct Evidence: marker/mechanism OMIM:309541
OMIM ClinVar CTD MouseDO
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 PMID:18414213 PMID:23000143 PMID:23539139 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28363510 PMID:28449119 PMID:28492532 PMID:28554332 PMID:33880059 PMID:35013307 More...
NCBI chr X:72,986,400...73,011,430
Ensembl chr X:72,986,398...73,009,963
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:73,057,520...73,067,527
Ensembl chr X:73,057,520...73,067,524
G
Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:73,070,198...73,129,296
Ensembl chr X:73,070,198...73,129,296
G
Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:72,960,476...72,965,550
Ensembl chr X:72,960,479...72,965,550
G
Opn1mw
opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:73,171,072...73,194,362
Ensembl chr X:73,171,070...73,194,366
G
Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:72,965,727...72,974,408
Ensembl chr X:72,965,727...72,974,456
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:73,194,515...73,211,444
Ensembl chr X:73,194,550...73,211,444
G
Thap11
THAP domain containing 11
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:25741868 PMID:28449119
NCBI chr 8:106,581,735...106,583,582
Ensembl chr 8:106,581,764...106,583,582
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:73,220,865...73,252,104
Ensembl chr X:73,220,865...73,252,106
G
Abcd4
ATP-binding cassette, sub-family D member 4
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 PMID:28572511 PMID:30651581 PMID:33729671 PMID:33845046 More...
NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187
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...28,602,448
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 PMID:27403441 PMID:28492532 More...
NCBI chr X:72,986,400...73,011,430
Ensembl chr X:72,986,398...73,009,963
G
Lmbrd1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 PMID:26997947 PMID:28492532 More...
NCBI chr 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382
G
Mmachc
methylmalonic aciduria cblC type, with homocystinuria
ISO IAGP
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism OMIM:277400
OMIM ClinVar CTD MouseDO
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17576681 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19573432 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21697092 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23241609 PMID:23580368 PMID:23591356 PMID:23754956 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23932106 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:24853097 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25741915 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26253414 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26464686 PMID:26467025 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28337550 PMID:28454995 PMID:28481040 PMID:28492532 PMID:28693988 PMID:28835862 PMID:29068997 PMID:29294253 PMID:29302025 PMID:29340559 PMID:29379858 PMID:29396438 PMID:29453417 PMID:29581464 PMID:29731766 PMID:30157807 PMID:30197982 PMID:30209273 PMID:30293248 PMID:30863077 PMID:31092259 PMID:31130284 PMID:31137025 PMID:31278756 PMID:31279840 PMID:31470807 PMID:31503356 PMID:31555752 PMID:31574870 PMID:31998365 PMID:32058304 PMID:32071835 PMID:32099815 PMID:32164588 PMID:32439973 PMID:32457044 PMID:32481360 PMID:32943488 PMID:33411215 PMID:33473346 PMID:33515116 PMID:33562640 PMID:33691766 PMID:33726816 PMID:33931066 PMID:33982424 PMID:34102818 PMID:34215320 PMID:34356170 PMID:34389282 PMID:34445196 PMID:35156754 PMID:35190856 PMID:35193651 PMID:35361390 PMID:36338977 PMID:38387306 More...
NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603
G
Mmadhc
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
ISO
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 PMID:32252256 PMID:33552904 More...
NCBI chr 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813
G
Prdx1
peroxiredoxin 1
ISO
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 More...
NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019
G
Thap11
THAP domain containing 11
IAGP
OMIM:277400
MouseDO
NCBI chr 8:106,581,735...106,583,582
Ensembl chr 8:106,581,764...106,583,582
G
Mmadhc
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2
OMIM CTD ClinVar
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 PMID:18385497 PMID:19058814 PMID:22156578 PMID:24033266 PMID:25155779 PMID:25741868 PMID:27252276 PMID:28492532 PMID:28939051 PMID:29620684 PMID:32252256 PMID:33552904 More...
NCBI chr 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813
G
Tsen54
tRNA splicing endonuclease subunit 54
ISO
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920
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
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
G
Lmbrd1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 PMID:24664876 PMID:25047945 PMID:25741868 PMID:26997947 PMID:28492532 PMID:32552793 PMID:34958133 More...
NCBI chr 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
CTD ClinVar OMIM
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 PMID:9683607 PMID:10323741 PMID:12068375 PMID:12154064 PMID:12375236 PMID:12923861 PMID:16199547 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22786600 PMID:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25741915 PMID:25758715 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 PMID:34269512 PMID:34625984 More...
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
G
Abcd4
ATP-binding cassette, sub-family D member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 PMID:30293248 PMID:33845046 More...
NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187
G
Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: Microcytic anemia
ClinVar
PMID:34140661
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
G
Dnm2
dynamin 2
IAGP
OMIM:206200
MouseDO
NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055
G
Tmprss6
transmembrane serine protease 6
ISO
ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: TMPRSS6-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 PMID:20719010 PMID:23319530 PMID:25156943 PMID:25588876 PMID:25741868 PMID:25873000 PMID:27365303 PMID:27643674 PMID:28460265 PMID:28492532 PMID:30135444 PMID:32581362 More...
NCBI chr15:78,323,867...78,352,848
Ensembl chr15:78,323,867...78,352,834
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 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10677336 PMID:10732818 PMID:10869114 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11395038 PMID:11418485 PMID:11590551 PMID:11710708 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17284634 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18583979 PMID:18704422 PMID:19031955 PMID:19648163 PMID:20154341 PMID:20472929 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21534867 PMID:21644011 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23648444 PMID:24241962 PMID:25007187 PMID:25110820 PMID:25177243 PMID:25227144 PMID:25741868 PMID:25741905 PMID:25778468 PMID:27104192 PMID:27217051 PMID:27399166 PMID:27781293 PMID:27992285 PMID:28492532 PMID:28514598 PMID:28696419 PMID:29589488 PMID:29911750 PMID:30684021 PMID:32612964 PMID:32695297 More...
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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:24456035 PMID:25741868 PMID:28665435
NCBI chr 4:134,070,357...134,081,795
Ensembl chr 4:134,070,492...134,081,795
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:25741905 PMID:28492532 PMID:30915432 PMID:31243445
NCBI chr 9:54,769,942...54,819,812
Ensembl chr 9:54,771,073...54,819,814
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Lztr1
leucine-zipper-like transcriptional regulator, 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31533111 PMID:31825158 More...
NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
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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 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882
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Ccs
copper chaperone for superoxide dismutase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12514262
NCBI chr19:4,875,394...4,889,326
Ensembl chr19:4,875,394...4,889,360
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16234325 PMID:16501001 PMID:16705067 PMID:18003771 PMID:20607983 PMID:24033266 PMID:25477417 PMID:25741868 PMID:25852890 PMID:26426912 PMID:28492532 PMID:28893421 PMID:32860008 PMID:33532864 More...
NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia CTD Direct Evidence: marker/mechanism DNA:deletion, snps, missense mutations:multiple (human)
OMIM ClinVar CTD RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 PMID:17924334 More...
RGD:11560486
NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
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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
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Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
DNA:missense mutation:cds:p.G41R (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2
CTD ClinVar OMIM RGD
PMID:3298795 PMID:9536098 PMID:11062458 PMID:11929868 PMID:12763860 PMID:17576681 PMID:25741868 PMID:25765846 PMID:28492532 PMID:11062458 More...
RGD:1598986
NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576
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Cldn16
claudin 16
ISO IAGP
ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL OMIM:248250
OMIM ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
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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
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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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
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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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
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Cldn19
claudin 19
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
OMIM CTD ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 PMID:25410674 PMID:25741868 PMID:27530400 PMID:28492532 PMID:28893421 PMID:33025205 PMID:33532864 PMID:34805638 More...
NCBI chr 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Cnnm2
cyclin M2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal hypomagnesemia 6
OMIM CTD ClinVar
PMID:21397062 PMID:25741868 PMID:28492532
NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
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Rragd
Ras-related GTP binding D
ISO
ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | ClinVar Annotator: match by term: RRAGD-related condition
OMIM ClinVar
PMID:34607910
NCBI chr 4:32,982,998...33,022,180
Ensembl chr 4:32,983,037...33,022,180
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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
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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
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO IAGP 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
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Fam20c
FAM20C, golgi associated secretory pathway kinase
IAGP
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
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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
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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
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO IAGP
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
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Alas2
aminolevulinic acid synthase 2, erythroid
onset
ISO
ClinVar Annotator: match by term: ALAS2-related condition | 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:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 PMID:35093382 PMID:21252495 PMID:11110715 PMID:7560104 More...
RGD:11035244 , RGD:11035243 , RGD:11035241
NCBI chr X:149,330,443...149,353,614
Ensembl chr X:149,330,371...149,353,634
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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
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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:25741868 PMID:28492532
NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570
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Acsl1
acyl-CoA synthetase long-chain family member 1
ISO
mRNA:increased expression:liver
RGD
PMID:15811777
RGD:1625742
NCBI chr 8:46,924,214...46,989,088
Ensembl chr 8:46,924,074...46,989,088
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Adm
adrenomedullin
ISO
mRNA, protein:increased expression:stomach
RGD
PMID:17335899
RGD:1625307
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Gip
gastric inhibitory polypeptide
ISO
protein:increased expression:duodenum, jejunum (rat)
RGD
PMID:6140913
RGD:2312554
NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657
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Hp
haptoglobin
ISO
RGD
PMID:19053136
RGD:11041864
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26483381
NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499
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Ramp2
receptor (calcitonin) activity modifying protein 2
ISO
RGD
PMID:17335899
RGD:1625307
NCBI chr11:101,137,160...101,139,076
Ensembl chr11:101,136,854...101,150,372
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Sis
sucrase isomaltase
ISO
RGD
PMID:10864000
RGD:1625548
NCBI chr 3:72,795,890...72,875,196
Ensembl chr 3:72,795,890...72,875,196
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Sqstm1
sequestosome 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26483381
NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654
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Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7306070
NCBI chr 3:81,865,719...81,883,035
Ensembl chr 3:81,864,397...81,883,509
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Ugt1a1
UDP glucuronosyltransferase 1 family, polypeptide A1
ISO
mRNA, protein:increased expression:liver
RGD
PMID:9841869
RGD:1600450
NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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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
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Cd40lg
CD40 ligand
treatment
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:16716410 PMID:16716410
RGD:2313422 , RGD:2313422
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Slc19a2
solute carrier family 19 (thiamine transporter), member 2
ISO IAGP
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia CTD Direct Evidence: marker/mechanism OMIM:249270
OMIM ClinVar CTD MouseDO
PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10874303 PMID:10978358 PMID:12065289 PMID:12435857 PMID:14994241 PMID:16199547 PMID:17132746 PMID:17331069 PMID:17463047 PMID:18414213 PMID:19643445 PMID:23638917 PMID:24355766 PMID:25741868 PMID:25741916 PMID:26467025 PMID:28004468 PMID:28492532 PMID:29450569 PMID:33409956 PMID:33649974 PMID:33816400 More...
NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954
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Tcn2
transcobalamin 2
ISO
ClinVar Annotator: match by term: Transcobalamin II deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 PMID:12091374 PMID:12194912 PMID:12707225 PMID:14632784 PMID:16199547 PMID:17220211 PMID:17576681 PMID:18956254 PMID:19373259 PMID:20352340 PMID:20607612 PMID:22188304 PMID:24033266 PMID:25741868 PMID:26827111 PMID:27155006 PMID:28492532 PMID:29631995 PMID:31666257 PMID:32888943 PMID:33023511 More...
NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159
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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
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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
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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
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Dgat1
diacylglycerol O-acyltransferase 1
ISO
mRNA:increased expression:aorta
RGD
PMID:17047345
RGD:13782261
NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
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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
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Ireb2
iron responsive element binding protein 2
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:22154532
RGD:12904026
NCBI chr 9:54,769,942...54,819,812
Ensembl chr 9:54,771,073...54,819,814
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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
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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
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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
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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
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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
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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
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Abcd4
ATP-binding cassette, sub-family D 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
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Amn
amnionless
ISO
ClinVar Annotator: match by term: Vitamin B12 deficiency
ClinVar
PMID:25741868
NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
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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
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Cbs
cystathionine beta-synthase
ISO
protein:decreased expression:liver (rat)
RGD
PMID:2732804
RGD:40903037
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:16716410
RGD:2313422
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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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
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Fut2
fucosyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 7:45,298,015...45,315,818
Ensembl chr 7:45,298,015...45,315,818
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Gpx3
glutathione peroxidase 3
treatment
ISO
RGD
PMID:11115425
RGD:401827848
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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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
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:22568797
RGD:11553830
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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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
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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
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS: rs12794714|rs10766197 (human) DNA:SNP:CDS:rs12794714 (human)
RGD
PMID:34906413 PMID:31814925
RGD:401900724 , RGD:401901168
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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Dhcr7
7-dehydrocholesterol reductase
ISO
DNA:SNP:CDS:rs12785878 (human)
RGD
PMID:31814925
RGD:401901168
NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147
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Gc
vitamin D binding protein
ISO
DNA:SNP:CDS:rs2282679) (human)
RGD
PMID:31814925
RGD:401901168
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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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
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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
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Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
RGD
PMID:28365874
RGD:124713570
NCBI chr 2:56,996,845...57,014,152
Ensembl chr 2:56,996,842...57,014,015
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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
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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
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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
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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
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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
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
treatment
ISO
ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:17488797 PMID:18394115 PMID:20926527 PMID:21107545 PMID:21700898 PMID:22190362 PMID:22443290 PMID:22588163 PMID:23423976 PMID:23444327 PMID:23483640 PMID:24197768 PMID:25086671 PMID:25284246 PMID:25741868 PMID:25741914 PMID:27287609 PMID:28492532 PMID:30282619 PMID:31261480 PMID:32932410 PMID:35279323 PMID:35738466 PMID:36321535 PMID:36561972 PMID:32231239 More...
RGD:32716373
NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
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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 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 More...
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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Milr1
mast cell immunoglobulin like receptor 1
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269
NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620
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Polg2
polymerase (DNA directed), gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269
NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:24033266 PMID:25741868 PMID:25741916 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 More...
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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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 PMID:28492532 More...
NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
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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 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848
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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 CTD Direct Evidence: marker/mechanism 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 CTD RGD
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:25741868 PMID:25741905 PMID:25741909 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:31557081 PMID:35738466 PMID:32231239 PMID:24693968 PMID:24859502 PMID:25201466 PMID:24246681 PMID:9275211 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
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
treatment
ISO
associated with nitrate tolerance
RGD
PMID:16520233
RGD:401900296
NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986
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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
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Ttpa
tocopherol (alpha) transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11095717
NCBI chr 4:20,007,889...20,030,823
Ensembl chr 4:20,007,938...20,030,785
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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
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Ggcx
gamma-glutamyl carboxylase
no_association
ISO
RGD
PMID:11154138
RGD:11040513
NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695
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Fos
FBJ osteosarcoma oncogene
treatment
ISO
RGD
PMID:8229066
RGD:405100718
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron
RGD
PMID:18481165
RGD:2300278
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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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
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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
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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
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Phex
phosphate regulating endopeptidase homolog, X-linked
ISO IAGP
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked OMIM: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:2589938 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9536098 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22527485 PMID:22577109 PMID:22695891 PMID:23079138 PMID:23466123 PMID:23813354 PMID:24033266 PMID:24102521 PMID:24684036 PMID:24756041 PMID:24836714 PMID:24857004 PMID:24926462 PMID:25042154 PMID:25525159 PMID:25741868 PMID:25741895 PMID:25839938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26402641 PMID:26467025 PMID:26543054 PMID:26894575 PMID:27840894 PMID:28383812 PMID:28492532 PMID:28506344 PMID:28981921 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:29901142 PMID:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713 PMID:31910300 PMID:32257293 PMID:32329911 PMID:32772199 PMID:33639975 PMID:33666701 PMID:34006472 PMID:34141703 PMID:34434907 PMID:34633109 PMID:34806794 PMID:35738466 PMID:35896147 PMID:36530187 PMID:36672821 PMID:22573557 PMID:9063736 PMID:9106524 PMID:7550339 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
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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:11136179 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:22083641 PMID:22876375 PMID:23566014 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
NCBI chr X:7,020,049...7,185,597
Ensembl chr X:7,020,049...7,185,597
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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
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Slc39a13
solute carrier family 39 (metal ion transporter), member 13
ISO
mRNA:increased expression:lung, kidney (rat)
RGD
PMID:20859692
RGD:11553849
NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762
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