|
G |
Hap1 |
huntingtin-associated protein 1 |
|
ISO |
|
RGD |
PMID:11971876 |
RGD:1302538 |
NCBI chr10:85,778,267...85,786,553
|
|
G |
Tfrc |
transferrin receptor |
|
IEP |
protein:decreased expression:T cell |
RGD |
PMID:18373698 |
RGD:2292028 |
NCBI chr11:81,668,478...81,690,318
|
|
|
G |
Cd163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:31027316 |
RGD:127345132 |
NCBI chr 4:157,085,080...157,118,470
|
|
G |
Cyp2r1 |
cytochrome P450, family 2, subfamily r, polypeptide 1 |
|
ISO |
DNA:SNP:CDS: rs12794714 (human) |
RGD |
PMID:34906413 |
RGD:401900724 |
NCBI chr 1:168,749,302...168,798,079
|
|
G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15199296 |
|
NCBI chr13:104,728,539...104,798,884
|
|
|
G |
Ctf1 |
cardiotrophin 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:182,328,035...182,336,346
|
|
G |
Gucy2c |
guanylate cyclase 2C |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:171,299,715...171,380,296
|
|
G |
Lep |
leptin |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Neil1 |
nei-like DNA glycosylase 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:57,550,142...57,556,884
|
|
G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15309680 |
|
NCBI chr 7:118,712,261...118,780,723
|
|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:150,095,743...150,221,104
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
IEP |
mRNA:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:23320128 |
RGD:7241841 |
NCBI chr14:63,073,505...63,729,215
|
|
G |
Prkci |
protein kinase C, iota |
|
ISS |
|
MouseDO |
|
|
NCBI chr 2:114,250,398...114,310,784
|
|
G |
Sirt3 |
sirtuin 3 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:195,942,066...195,964,472
|
|
G |
Slc2a9 |
solute carrier family 2 member 9 |
|
ISS |
|
MouseDO |
|
|
NCBI chr14:76,540,649...76,674,277
|
|
|
G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
IDA |
protein:increased oxidation:cardiac muscle cell |
RGD |
PMID:23997093 |
RGD:13782087 |
NCBI chr12:34,072,710...34,122,142
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:105,076,472...105,081,906
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr13:23,204,464...23,366,900
|
|
G |
Fadd |
Fas associated via death domain |
treatment |
IEP |
|
RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:209,169,245...209,175,423
|
|
G |
Fas |
Fas cell surface death receptor |
|
IEP |
|
RGD |
PMID:30172001 |
RGD:13792561 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Lep |
leptin |
|
ISS |
OMIM:605552 |
MouseDO |
|
|
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Lpl |
lipoprotein lipase |
treatment |
IDA |
|
RGD |
PMID:26996629 |
RGD:13794382 |
NCBI chr16:25,596,205...25,621,928
|
|
G |
Mttp |
microsomal triglyceride transfer protein |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 |
ClinVar |
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
|
|
NCBI chr 2:226,613,090...226,654,239
|
|
G |
Tlr2 |
toll-like receptor 2 |
susceptibility |
ISO |
|
RGD |
PMID:19841034 |
RGD:15090861 |
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Tp53inp1 |
tumor protein p53 inducible nuclear protein 1 |
|
ISS |
OMIM:605552 |
MouseDO |
|
|
NCBI chr 5:29,051,267...29,069,486
|
|
|
G |
Ahdc1 |
AT hook, DNA binding motif, containing 1 |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 |
ClinVar |
PMID:25741868 PMID:29696776 PMID:33644933 |
|
NCBI chr 5:145,228,228...145,294,170
|
|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
|
|
NCBI chr 1:92,606,743...92,624,089
|
|
|
G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:31358993 |
|
NCBI chr 5:154,126,879...154,136,630
|
|
|
G |
Slc39a4 |
solute carrier family 39 member 4 |
|
ISO ISS |
DNA:deletions, snp, missense mutations:multiple (human) ClinVar Annotator: match by term: Acrodermatitis enteropathica zinc deficiency type | 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:28188634 PMID:28492532 PMID:30174688 PMID:31130284 PMID:31979155 PMID:33837739 PMID:34625996 PMID:12068297 More...
|
RGD:1599005 |
NCBI chr 7:110,214,017...110,218,202
|
|
|
G |
Il6 |
interleukin 6 |
|
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:9566989 |
RGD:1643102 |
NCBI chr 4:5,889,999...5,894,575
|
|
|
G |
Fgf23 |
fibroblast growth factor 23 |
|
ISO ISS |
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) OMIM:193100 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT DNA:missense mutation:cds:526C>T,p.R176W (human) |
MouseDO CTD ClinVar OMIM RGD |
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 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 4:161,600,439...161,609,991
|
|
G |
Phex |
phosphate regulating endopeptidase X-linked |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets |
ClinVar |
PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
|
|
NCBI chr X:41,422,561...41,671,226
|
|
|
G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
ISS ISO |
OMIM:241520 | OMIM:613312 ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:5,833,111...5,867,154
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive |
ClinVar |
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:22,518,051...22,583,044
|
|
|
G |
Baat |
bile acid CoA:amino acid N-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1 |
OMIM ClinVar |
PMID:12704386 PMID:17495420 PMID:23415802 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:68,647,166...68,656,137
|
|
|
G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: Biotin deficiency |
ClinVar |
PMID:88555 PMID:9099842 PMID:9158148 PMID:9232193 PMID:9375914 PMID:9654207 PMID:10206677 PMID:10400129 PMID:10801053 PMID:11313766 PMID:11668630 PMID:12227467 PMID:12359137 PMID:12618081 PMID:14628140 PMID:14707518 PMID:15060693 PMID:15776412 PMID:17185019 PMID:19757147 PMID:20224900 PMID:20301497 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:21752405 PMID:22011816 PMID:22698809 PMID:22975760 PMID:22995991 PMID:23644139 PMID:24033266 PMID:24123366 PMID:24525934 PMID:24797656 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25333069 PMID:25423671 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:27845546 PMID:28492532 PMID:28498829 PMID:28649539 PMID:28682309 PMID:28971021 PMID:29353266 PMID:29359854 PMID:29728376 PMID:29995633 PMID:30551056 PMID:30616616 PMID:30912303 PMID:31035122 PMID:31208052 PMID:31337602 PMID:31973013 PMID:33189081 PMID:33312878 PMID:34136440 PMID:34448386 PMID:35195902 More...
|
|
NCBI chr16:6,869,448...6,900,711
|
|
|
G |
Phf6 |
PHD finger protein 6 |
|
ISO ISS |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders | ClinVar Annotator: match by term: PHF6-related condition OMIM:301900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36008597 PMID:36999477 More...
|
|
NCBI chr X:137,576,214...137,619,297
|
|
|
G |
Dnmt1 |
DNA methyltransferase 1 |
|
IEP IDA |
mRNA:increased expression:liver: DNA:hypermethylation:liver: |
RGD |
PMID:17724018 PMID:17724018 |
RGD:9588267, RGD:9588267 |
NCBI chr 8:19,440,611...19,486,659
|
|
G |
Dnmt3l |
DNA methyltransferase 3 like |
|
IEP |
mRNA:increased expression:liver: |
RGD |
PMID:17724018 |
RGD:9588267 |
NCBI chr20:10,614,591...10,628,989
|
|
G |
Mbd2 |
methyl-CpG binding domain protein 2 |
|
IEP IDA |
mRNA:increased expression:liver: DNA:hypermethylation:liver: |
RGD |
PMID:17724018 PMID:17724018 |
RGD:9588267, RGD:9588267 |
NCBI chr18:66,449,196...66,516,112
|
|
|
G |
Aff4 |
ALF transcription elongation factor 4 |
|
ISO |
ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31058441 PMID:34782754 More...
|
|
NCBI chr10:37,998,319...38,080,580
|
|
|
G |
Trip12 |
thyroid hormone receptor interactor 12 |
|
ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition |
OMIM ClinVar |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28492532 PMID:28660352 PMID:29758562 PMID:31814248 More...
|
|
NCBI chr 9:85,916,691...86,043,312
|
|
|
G |
Ankrd46 |
ankyrin repeat domain 46 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,647,202...67,668,180
|
|
G |
Atp6v1c1 |
ATPase H+ transporting V1 subunit C1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:71,719,326...71,757,191
|
|
G |
Azin1 |
antizyme inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:69,654,773...69,681,578
|
|
G |
Baalc |
BAALC binder of MAP3K1 and KLF4 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:69,918,998...69,992,289
|
|
G |
Cox6c |
cytochrome c oxidase subunit 6C |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,129,265...67,142,001
|
|
G |
Cthrc1 |
collagen triple helix repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,122,474...70,132,756
|
|
G |
Dcaf13 |
DDB1 and CUL4 associated factor 13 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,160,983...70,196,142
|
|
G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,807,455...70,822,067
|
|
G |
Dpys |
dihydropyrimidinase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,822,648...70,929,255
|
|
G |
Fbxo43 |
F-box protein 43 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,333,161...67,346,751
|
|
G |
Fzd6 |
frizzled class receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,055,012...70,086,781
|
|
G |
Grhl2 |
grainyhead-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:68,400,287...68,530,269
|
|
G |
Kcns2 |
potassium voltage-gated channel, modifier subfamily S, member 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
|
NCBI chr 7:66,022,352...66,028,422
|
|
G |
Klf10 |
KLF transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:71,352,612...71,358,680
|
|
G |
Lrp12 |
LDL receptor related protein 12 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,941,068...71,012,409
|
|
G |
Mir875 |
microRNA 875 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
|
NCBI chr 7:66,861,955...66,862,027
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:152,342,611...152,414,171
|
|
G |
Ncald |
neurocalcin delta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:68,532,671...68,964,740
|
|
G |
Nipal2 |
NIPA-like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:65,774,477...65,884,807
|
|
G |
Odf1 |
outer dense fiber of sperm tails 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:69,377,427...69,389,662
|
|
G |
Osr2 |
odd-skipped related transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
|
NCBI chr 7:66,487,841...66,495,003
|
|
G |
Pabpc1 |
poly(A) binding protein, cytoplasmic 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,777,438...67,789,731
|
|
G |
Polr2k |
RNA polymerase II, I and III subunit K |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,347,118...67,359,466
|
|
G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:65,705,348...65,733,143
|
|
G |
Rgs22 |
regulator of G-protein signaling 22 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,188,531...67,308,805
|
|
G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,248,104...70,759,134
|
|
G |
Rnf19a |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,425,833...67,465,214
|
|
G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,962,008...70,993,726
|
|
G |
Slc25a32 |
solute carrier family 25 member 32 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:70,142,958...70,160,726
|
|
G |
Snx31 |
sorting nexin 31 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,676,514...67,776,925
|
|
G |
Spag1 |
sperm associated antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:67,361,474...67,421,369
|
|
G |
Stk3 |
serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
|
NCBI chr 7:67,938,341...68,208,472
|
|
G |
Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:69,115,216...69,224,843
|
|
G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO ISS |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21850686 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30602132 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 PMID:35052368 PMID:35599849 PMID:35690661 More...
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|
NCBI chr 7:66,557,862...67,128,429
|
|
G |
Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:69,826,404...69,848,702
|
|
G |
Zfp706 |
zinc finger protein 706 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:68,167,496...68,174,121
|
|
G |
Zfpm2 |
zinc finger protein, multitype 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:71,678,658...72,116,209
|
|
|
G |
Cblif |
cobalamin binding intrinsic factor |
|
ISO |
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency CTD Direct Evidence: marker/mechanism DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 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...
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RGD:11049582 |
NCBI chr 1:208,605,983...208,620,231
|
|
|
G |
Lep |
leptin |
|
ISO |
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency |
OMIM ClinVar |
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
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|
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Lepr |
leptin receptor |
|
ISO |
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:121,409,735...121,593,201
|
|
|
G |
Cth |
cystathionine gamma-lyase |
|
ISO ISS |
OMIM:219500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency |
OMIM MouseDO CTD ClinVar |
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 More...
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|
NCBI chr 2:249,634,731...249,661,066
|
|
|
G |
Irak1bp1 |
interleukin-1 receptor-associated kinase 1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 PMID:29209020 PMID:31167805 PMID:32801363 PMID:33004838 PMID:37961033 More...
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|
NCBI chr 8:83,731,512...83,748,289
|
|
G |
Phip |
pleckstrin homology domain interacting protein |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28191889 PMID:28263302 PMID:28492532 PMID:29209020 PMID:30018425 PMID:30564305 PMID:31167805 PMID:32492392 PMID:32801363 PMID:33004838 PMID:34773373 PMID:37961033 More...
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|
NCBI chr 8:83,776,802...83,891,192
|
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:17,857,260...18,011,844
|
|
G |
Phex |
phosphate regulating endopeptidase X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets |
CTD ClinVar |
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 More...
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|
NCBI chr X:41,422,561...41,671,226
|
|
G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:34426522 More...
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|
NCBI chr17:73,329,461...73,346,359
|
|
G |
Prss1 |
serine protease 1 |
|
ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 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...
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|
NCBI chr 4:70,364,589...70,367,792
|
|
G |
Vdr |
vitamin D receptor |
|
ISO |
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 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:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:32997713 PMID:35738466 PMID:37080976 More...
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|
NCBI chr 7:130,864,764...130,916,757
|
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18458655 |
|
NCBI chr 8:55,423,945...55,425,729
|
|
G |
Apob |
apolipoprotein B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18458655 |
|
NCBI chr 6:36,563,704...36,603,300
|
|
G |
Ttpa |
alpha tocopherol transfer protein |
|
ISO ISS |
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency | ClinVar Annotator: match by term: TTPA-related condition OMIM:277460 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3442652 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:11094124 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:25525159 PMID:25614784 PMID:25741868 PMID:26068213 PMID:26467025 PMID:27021565 PMID:27274910 PMID:27307040 PMID:28492532 PMID:28945198 PMID:30902645 PMID:31429931 PMID:31589614 PMID:31970222 PMID:31980526 PMID:32928973 PMID:33652732 PMID:34426522 PMID:34563650 PMID:34759169 More...
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|
NCBI chr 5:33,497,537...33,518,936
|
|
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
IEP |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr10:80,380,458...80,397,461
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
IEP |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr 4:33,518,557...33,553,484
|
|
G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22340208 |
|
NCBI chr X:8,615,239...8,681,372
|
|
G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
|
IEP |
associated with maternal low protein diet; protein:decreased expression:kidney (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr 1:85,720,812...85,749,079
|
|
G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
IEP |
associated with maternal low protein diet; protein:decreased expression:kidney (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr13:68,448,720...68,461,312
|
|
G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
IEP |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr 3:29,214,581...29,344,890
|
|
|
G |
Dhfr |
dihydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21310277 |
|
NCBI chr 2:25,320,895...25,346,004
|
|
G |
Igf1 |
insulin-like growth factor 1 |
|
IEP |
protein:decreased expression:serum, cranial bone (rat) |
RGD |
PMID:16111879 |
RGD:12910463 |
NCBI chr 7:24,169,608...24,249,446
|
|
|
G |
Sarm1 |
sterile alpha and TIR motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar Annotator: match by term: SLC46A1-related condition |
ClinVar |
PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 PMID:20686069 PMID:21489556 PMID:22345511 PMID:22695967 PMID:25167861 PMID:25504888 PMID:25741868 PMID:27664775 PMID:28492532 PMID:28685492 More...
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|
NCBI chr10:63,867,503...63,890,872
|
|
G |
Slc46a1 |
solute carrier family 46 member 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar Annotator: match by term: SLC46A1-related condition 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:21602279 PMID:22345511 PMID:22695967 PMID:22843796 PMID:24534056 PMID:25167861 PMID:25504888 PMID:25741868 PMID:27664775 PMID:28492532 PMID:28685492 More...
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|
NCBI chr10:63,361,504...63,367,940
|
|
|
G |
Pth |
parathyroid hormone |
|
ISO |
protein:decreased expression:plasma (mouse) |
RGD |
PMID:19570882 |
RGD:7242924 |
NCBI chr 1:176,942,901...176,946,034
|
|
G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO ISS |
OMIM:241530 DNA:deletions, snps:multiple (human) |
MouseDO RGD |
PMID:19570882 PMID:16358215 |
RGD:7242924, RGD:7242925 |
NCBI chr17:9,224,010...9,238,983
|
|
G |
Slc34a3 |
solute carrier family 34 member 3 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 PMID:18480181 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:22387237 PMID:22806288 PMID:24033266 PMID:24176905 PMID:24246249 PMID:25296721 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29505567 PMID:29809158 PMID:30798342 PMID:31440709 PMID:31672324 PMID:32524022 PMID:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34633109 PMID:34805638 PMID:35689455 PMID:36596813 PMID:36699160 PMID:38586466 More...
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|
NCBI chr 3:28,442,455...28,447,997
|
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:136,979,804...136,990,236
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr20:3,626,685...3,629,303
|
|
|
G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,128,056...9,184,312
|
|
G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,222,569...11,350,854
|
|
G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,330,960...10,415,358
|
|
G |
Aire |
autoimmune regulator |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,635,775...10,650,709
|
|
G |
C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,165,853...12,187,271
|
|
G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr11:37,225,321...37,289,741
|
|
G |
Cbs |
cystathionine beta synthase |
|
ISO ISS |
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: HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive OMIM:236200 | OMIM:236250 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 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:11483494 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:31515488 PMID:31664448 PMID:32000841 PMID:32232970 PMID:32245022 PMID:32295525 PMID:32768567 PMID:32769498 PMID:32818659 PMID:33057012 PMID:33223529 PMID:33282382 PMID:33335839 PMID:33616328 PMID:33726816 PMID:33985475 PMID:34426522 PMID:34449519 PMID:34449521 PMID:34818515 PMID:34842599 PMID:35281663 PMID:36588553 PMID:36964972 PMID:7506602 More...
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RGD:1600622 |
NCBI chr20:9,708,089...9,732,623
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,687,863...10,694,736
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,905,690...11,924,111
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,021,676...12,049,425
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G |
Cryaa |
crystallin, alpha A |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,783,605...9,787,351
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,245,462...10,247,505
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G |
Dnmt3l |
DNA methyltransferase 3 like |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,614,591...10,628,989
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
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G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,514,459...10,522,556
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,035,562...10,123,059
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G |
Icoslg |
inducible T-cell co-stimulator ligand |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,600,420...10,610,718
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,061,009...11,097,242
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G |
Krtap10-1 |
keratin associated protein 10-1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,880,524...10,881,445
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G |
Krtap10-10 |
keratin associated protein 10-10 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,854,951...10,864,402
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G |
Krtap10-2 |
keratin associated protein 10-2 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,888,588...10,889,386
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G |
Krtap10-8 |
keratin associated protein 10-8 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,871,991...10,872,927
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G |
Krtap10-9 |
keratin associated protein 10-9 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,939,609...10,940,526
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G |
Krtap12-1 |
keratin associated protein 12-1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,917,340...10,917,949
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G |
Krtap12-2 |
keratin associated protein 12-2 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,904,422...10,904,751
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G |
Krtap12-4 |
keratin associated protein 12-4 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,910,350...10,910,682
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G |
Lrrc3 |
leucine rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,758,919...10,763,736
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G |
Lss |
lanosterol synthase |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,090,641...12,118,230
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G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,127,570...12,165,165
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G |
Mmachc |
metabolism of cobalamin associated C |
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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...
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NCBI chr 5:130,166,056...130,172,735
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Homocystinuria |
ClinVar |
PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 More...
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NCBI chr17:62,911,705...62,996,544
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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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...
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RGD:5508189 |
NCBI chr 1:34,866,991...34,899,425
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G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,613,786...9,622,941
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G |
Pcbp3 |
poly(rC) binding protein 3 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,678,218...11,878,210
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G |
Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,190,597...12,278,723
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G |
Pde9a |
phosphodiesterase 9A |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,469,809...9,562,949
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G |
Pfkl |
phosphofructokinase, liver type |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,663,907...10,685,967
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: CBS deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 9:30,040,466...30,533,834
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G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,662,866...9,705,030
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G |
Pofut2 |
protein O-fucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,367,073...11,377,788
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G |
Prdm15 |
PR/SET domain 15 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr11:37,164,608...37,225,172
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G |
Pttg1ip |
PTTG1 interacting protein |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,030,013...11,047,742
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G |
Pwp2 |
PWP2, small subunit processome component |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,499,332...10,512,965
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr11:50,591,926...50,614,169
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G |
Rrp1 |
ribosomal RNA processing 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,260,892...10,272,141
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G |
Rrp1b |
ribosomal RNA processing 1B |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,122,825...10,148,404
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G |
Rsph1 |
radial spoke head component 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,341,910...9,360,640
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G |
Sik1 |
salt-inducible kinase 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,947,104...9,958,729
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,584,410...11,602,429
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G |
Slc37a1 |
solute carrier family 37 member 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,360,501...9,433,895
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G |
Slx9 |
SLX9 ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:11,114,632...11,147,532
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G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,074,040...12,083,873
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G |
Sumo3 |
small ubiquitin-like modifier 3 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,009,730...11,020,502
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G |
Tff1 |
trefoil factor 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,235,736...9,239,597
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G |
Tff2 |
trefoil factor 2 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,217,110...9,220,979
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G |
Tff3 |
trefoil factor 3 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,193,259...9,197,969
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,254,102...9,273,808
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G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,438,404...10,498,740
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|
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 |
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NCBI chr20:10,703,568...10,753,189
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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 |
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NCBI chr20:10,771,806...10,837,419
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|
G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,742,904...9,753,840
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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 |
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NCBI chr20:9,291,471...9,334,685
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G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:10,983,734...11,005,468
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G |
Umodl1 |
uromodulin-like 1 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,027,751...9,087,133
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G |
Wdr4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:9,587,205...9,611,434
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G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr20:12,165,192...12,174,713
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G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
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NCBI chr11:37,312,337...37,327,040
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|
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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: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:32295525 PMID:33057012 PMID:33223529 PMID:33985475 PMID:34426522 More...
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NCBI chr20:9,708,089...9,732,623
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G |
Mmadhc |
metabolism of cobalamin associated D |
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ISO |
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE |
ClinVar OMIM |
PMID:15292234 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:34,708,649...34,726,554
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
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:28518168 PMID:30041674 PMID:31063268 PMID:32461654 PMID:33042249 PMID:33980297 PMID:38678107 More...
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NCBI chr 1:34,866,991...34,899,425
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG |
ClinVar |
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:25758715 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:30676783 PMID:32533987 PMID:32581362 PMID:34269512 PMID:34625984 PMID:37404677 More...
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NCBI chr17:62,911,705...62,996,544
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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ISO |
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG |
ClinVar |
PMID:25741868 |
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NCBI chr 1:34,866,991...34,899,425
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G |
Bco1 |
beta-carotene oxygenase 1 |
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ISO |
ClinVar Annotator: match by term: BCO1-related condition | 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 PMID:28492532 |
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NCBI chr19:45,149,250...45,186,102
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G |
Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24386282 |
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NCBI chr19:69,426,540...69,447,017
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G |
Ahcy |
adenosylhomocysteinase |
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IDA |
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RGD |
PMID:12208805 |
RGD:1598896 |
NCBI chr 3:164,029,338...164,044,562
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G |
Apoe |
apolipoprotein E |
treatment |
IEP |
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RGD |
PMID:22762542 |
RGD:6903856 |
NCBI chr 1:88,481,889...88,485,816
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G |
Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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IEP |
protein:decreased expression:cerebral cortex |
RGD |
PMID:23467881 |
RGD:11576285 |
NCBI chr 2:191,709,311...191,737,414
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|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
IEP |
protein:decreased expression:cerebral cortex |
RGD |
PMID:23467881 |
RGD:11576285 |
NCBI chr13:84,729,597...84,754,544
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|
G |
Bche |
butyrylcholinesterase |
|
IDA |
Protein:increased expression:serum |
RGD |
PMID:16442260 |
RGD:1599454 |
NCBI chr 2:160,607,289...160,699,760
|
|
G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
|
NCBI chr 8:10,746,338...10,882,295
|
|
G |
Cbs |
cystathionine beta synthase |
susceptibility |
IEP ISO ISS |
mRNA:decreased expression, protein:decreased expression ClinVar Annotator: match by term: Hyperhomocysteinemia OMIM:603174 associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD 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:29508359 PMID:29600437 PMID:16636197 PMID:10704624 More...
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RGD:1600624, RGD:40903036 |
NCBI chr20:9,708,089...9,732,623
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IEP |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:17977907 |
RGD:8549578 |
NCBI chr10:67,503,077...67,504,875
|
|
G |
Cth |
cystathionine gamma-lyase |
|
ISO |
ClinVar Annotator: match by term: Homocysteine, total plasma, elevated |
ClinVar |
PMID:15151507 PMID:25741868 |
|
NCBI chr 2:249,634,731...249,661,066
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|
G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:11950713 |
RGD:5135249 |
NCBI chr14:17,477,542...17,479,321
|
|
G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:11950713 |
RGD:5135249 |
NCBI chr14:17,571,900...17,573,624
|
|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:11950713 |
RGD:5135249 |
NCBI chr14:17,310,790...17,312,250
|
|
G |
Des |
desmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20116427 |
|
NCBI chr 9:84,299,626...84,307,344
|
|
G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
IEP |
protein:decreased expression:heart (rat) |
RGD |
PMID:19906449 |
RGD:401959215 |
NCBI chr11:47,360,824...47,479,033
|
|
G |
Ece1 |
endothelin converting enzyme 1 |
|
IMP |
|
RGD |
PMID:19371338 |
RGD:4892572 |
NCBI chr 5:155,361,031...155,462,723
|
|
G |
Ednra |
endothelin receptor type A |
|
IEP |
|
RGD |
PMID:19371338 |
RGD:4892572 |
NCBI chr19:47,137,360...47,207,961
|
|
G |
F10 |
coagulation factor X |
treatment |
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr16:83,170,973...83,190,280
|
|
G |
F12 |
coagulation factor XII |
treatment |
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr17:9,212,819...9,220,664
|
|
G |
F2 |
coagulation factor II, thrombin |
treatment |
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr 3:98,051,958...98,065,246
|
|
G |
F8 |
coagulation factor VIII |
|
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr18:140,848...172,330
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:21717134 |
RGD:10449171 |
NCBI chr X:157,352,364...157,372,144
|
|
G |
Gnmt |
glycine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317120 |
|
NCBI chr 9:14,254,675...14,258,028
|
|
G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
IEP |
|
RGD |
PMID:24563435 |
RGD:11035307 |
NCBI chr 8:117,905,462...117,906,588
|
|
G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
treatment |
IDA |
|
RGD |
PMID:25457025 |
RGD:13792697 |
NCBI chr10:41,710,540...42,030,105
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
treatment |
IDA |
|
RGD |
PMID:25457025 |
RGD:13792697 |
NCBI chr10:6,136,458...6,560,003
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
IDA |
|
RGD |
PMID:25457025 |
RGD:13792697 |
NCBI chr 4:170,297,811...170,775,420
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
protein:increased expression:descending aorta, endothelial cells (rat) |
RGD |
PMID:20871618 |
RGD:4144131 |
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:renal glomerulus (mouse) |
RGD |
PMID:22647887 |
RGD:7175168 |
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:24739303 |
RGD:13204791 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
treatment |
ISO |
DNA:missense mutations, nonsense mutations:CDS:multiple (human) CTD Direct Evidence: marker/mechanism|therapeutic associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) |
CTD RGD |
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 PMID:16575899 PMID:17387702 PMID:18234410 PMID:18551038 PMID:19204075 PMID:19646848 PMID:10679944 PMID:12471611 More...
|
RGD:1601421, RGD:10449400 |
NCBI chr 5:163,748,346...163,768,141
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
|
RGD |
PMID:12068375 |
RGD:1601425 |
NCBI chr17:62,911,705...62,996,544
|
|
G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16575899 PMID:17369066 |
|
NCBI chr 1:34,866,991...34,899,425
|
|
G |
Ngf |
nerve growth factor |
|
IEP |
|
RGD |
PMID:21044172 |
RGD:5144149 |
NCBI chr 2:192,589,580...192,642,971
|
|
G |
Nppb |
natriuretic peptide B |
|
IEP |
mRNA, protein:increased expression:heart, plasma |
RGD |
PMID:17303690 |
RGD:1642265 |
NCBI chr 5:163,699,955...163,701,314
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17292331 PMID:19028542 |
|
NCBI chr 4:34,261,312...34,292,327
|
|
G |
Pycard |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
|
NCBI chr 1:192,032,124...192,033,419
|
|
G |
Slc46a1 |
solute carrier family 46 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19204075 |
|
NCBI chr10:63,361,504...63,367,940
|
|
G |
Sod2 |
superoxide dismutase 2 |
treatment |
IEP |
|
RGD |
PMID:24563435 |
RGD:11035307 |
NCBI chr 1:50,043,323...50,050,168
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO |
|
RGD |
PMID:24739303 |
RGD:13204791 |
NCBI chr X:3,766,509...3,772,578
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12615666 |
|
NCBI chr20:3,626,685...3,629,303
|
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets |
ClinVar |
PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 PMID:25741868 More...
|
|
NCBI chr X:17,857,260...18,011,844
|
|
G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:24033266 PMID:25741868 PMID:35738466 |
|
NCBI chr14:5,833,111...5,867,154
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 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 chr 1:22,518,051...22,583,044
|
|
G |
Fam20c |
FAM20C, golgi associated secretory pathway kinase |
|
ISO |
|
RGD |
PMID:22615579 |
RGD:11558021 |
NCBI chr12:20,940,654...20,999,072
|
|
G |
Fgf23 |
fibroblast growth factor 23 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar RGD |
PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 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 4:161,600,439...161,609,991
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:25741868 PMID:35738466 |
|
NCBI chr 1:205,712,625...205,729,406
|
|
G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:25741868 PMID:35738466 |
|
NCBI chr 1:196,299,843...196,315,170
|
|
G |
Phex |
phosphate regulating endopeptidase X-linked |
|
ISO |
ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | 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:11502829 PMID:12414858 PMID:12727977 PMID:16199547 PMID:16636593 PMID:18162710 PMID:18625346 PMID:19219621 PMID:21902834 PMID:21994957 PMID:22261628 PMID:22319799 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24684036 PMID:24836714 PMID:25031893 PMID:25042154 PMID:25741868 PMID:26040324 PMID:26377240 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29707405 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:31910300 PMID:34633109 PMID:34806794 PMID:35738466 PMID:36530187 PMID:37059315 More...
|
|
NCBI chr X:41,422,561...41,671,226
|
|
G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:34426522 More...
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NCBI chr17:73,329,461...73,346,359
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G |
Prss1 |
serine protease 1 |
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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...
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NCBI chr 4:70,364,589...70,367,792
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G |
Vdr |
vitamin D receptor |
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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:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:32997713 PMID:35738466 PMID:37080976 More...
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NCBI chr 7:130,864,764...130,916,757
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G |
Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:31959358 |
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NCBI chr 8:83,718,897...83,902,128
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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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:23038738 PMID:25180662 PMID:25741868 PMID:28492532 PMID:35313637 PMID:36334264 More...
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NCBI chr14:5,833,111...5,867,154
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.Y901S (human) |
OMIM ClinVar CTD RGD |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 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...
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RGD:6906930, RGD:6906931 |
NCBI chr 1:22,518,051...22,583,044
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G |
Amn |
amnion associated transmembrane protein |
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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...
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NCBI chr 6:136,132,567...136,140,008
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G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:82,473,097...82,818,564
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G |
Cdc42bpb |
CDC42 binding protein kinase beta |
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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...
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NCBI chr 6:136,154,905...136,241,259
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G |
Cubn |
cubilin |
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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:27766458 PMID:28204945 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31497480 PMID:31613795 PMID:31630189 PMID:33226606 PMID:33532864 PMID:34426522 PMID:34610128 PMID:34979989 PMID:35460704 PMID:36112210 PMID:36891821 PMID:36926036 PMID:37312928 More...
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NCBI chr17:76,385,046...76,593,133
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G |
Hacd1 |
3-hydroxyacyl-CoA dehydratase 1 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:77,081,508...77,106,114
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G |
Slc39a12 |
solute carrier family 39 member 12 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:77,353,761...77,440,384
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G |
St8sia6 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:76,740,755...76,884,178
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G |
Stam |
signal transducing adaptor molecule |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:77,120,235...77,166,173
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G |
Traf3 |
Tnf receptor-associated factor 3 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:136,025,097...136,128,363
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G |
Trdmt1 |
tRNA aspartic acid methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:76,601,966...76,646,104
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G |
Vim |
vimentin |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:81,577,261...81,585,746
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G |
Amn |
amnion associated transmembrane protein |
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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...
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NCBI chr 6:136,132,567...136,140,008
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G |
Cblif |
cobalamin binding intrinsic factor |
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ISO |
DNA:polymorphisms, missense mutations, splice sites:exon,intron: protein:increased excretion:urine: |
RGD |
PMID:15738392 PMID:10435666 |
RGD:11049583, RGD:11049586 |
NCBI chr 1:208,605,983...208,620,231
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G |
Cdc42bpb |
CDC42 binding protein kinase beta |
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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...
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NCBI chr 6:136,154,905...136,241,259
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G |
Cubn |
cubilin |
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ISO |
DNA:missense mutation:cds:p.P1297L (human) ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 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:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31497480 PMID:31613795 PMID:31630189 PMID:33226606 PMID:33532864 PMID:34426522 PMID:34610128 PMID:34979989 PMID:36112210 PMID:36891821 PMID:36926036 PMID:37312928 PMID:10080186 More...
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RGD:61796 |
NCBI chr17:76,385,046...76,593,133
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G |
Amn |
amnion associated transmembrane protein |
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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...
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RGD:11071839 |
NCBI chr 6:136,132,567...136,140,008
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G |
Cdc42bpb |
CDC42 binding protein kinase beta |
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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...
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NCBI chr 6:136,154,905...136,241,259
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G |
Trpm6 |
transient receptor potential cation channel, subfamily M, member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition |
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...
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NCBI chr 1:225,559,528...225,747,106
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G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
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ISO |
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 |
ClinVar |
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NCBI chr 3:134,499,617...134,588,113
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G |
App |
amyloid beta precursor protein |
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IEP |
mRNA:decreased expression:hippocampus: |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr11:37,506,207...37,724,351
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G |
Atp7a |
ATPase copper transporting alpha |
severity |
ISO IEP |
mRNA:increased expression:duodenum (mouse) DNA:deletion:cds:p.A799_L800del (mouse) mRNA:increased expression:small intestine mucosa (rat) |
RGD |
PMID:23776592 PMID:23776592 PMID:15637178 |
RGD:11252172, RGD:11252172, RGD:2315589 |
NCBI chr X:75,159,635...75,267,094
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G |
C1qa |
complement C1q A chain |
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IEP |
mRNA:increased expression:hippocampus: |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 5:154,417,086...154,419,933
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G |
Crp |
C-reactive protein |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:19730160 |
RGD:5131463 |
NCBI chr13:87,694,062...87,695,978
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G |
Cst3 |
cystatin C |
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IEP |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 3:136,336,923...136,340,796
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G |
Fn1 |
fibronectin 1 |
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IEP |
mRNA:increased expression:hippocampus: |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 9:80,645,507...80,714,200
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G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
IEP ISO |
associated with Renal Insufficiency, Chronic |
RGD |
PMID:7861256 PMID:24691014 |
RGD:11352760, RGD:11352819 |
NCBI chr 8:117,905,462...117,906,588
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G |
Gsr |
glutathione-disulfide reductase |
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ISO |
protein:increased activity:plasma: |
RGD |
PMID:25097522 |
RGD:11059505 |
NCBI chr16:65,185,574...65,228,742
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO IEP |
mRNA:decreased expression:liver |
RGD |
PMID:17218383 PMID:22457245 |
RGD:11041606, RGD:11041634 |
NCBI chr 1:95,298,332...95,300,271
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G |
Hfe |
homeostatic iron regulator |
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ISO |
associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) |
RGD |
PMID:29194702 |
RGD:14701052 |
NCBI chr17:41,841,302...41,849,359
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G |
Hp |
haptoglobin |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:647925 |
RGD:11041798 |
NCBI chr19:54,449,151...54,453,701
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G |
Il6 |
interleukin 6 |
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IEP |
associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) |
RGD |
PMID:18808386 |
RGD:11062011 |
NCBI chr 4:5,889,999...5,894,575
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G |
Ireb2 |
iron responsive element binding protein 2 |
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IEP |
mRNA:increased expression:duodenal mucosa (rat) protein:altered activity:intestinal villus of duodenum (rat) |
RGD |
PMID:18549630 PMID:10095770 |
RGD:12904038, RGD:12910699 |
NCBI chr 8:64,124,152...64,207,702
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G |
Itga2 |
integrin subunit alpha 2 |
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ISO |
DNA:SNP: :807C>T (human) |
RGD |
PMID:12225391 |
RGD:11530068 |
NCBI chr 2:46,520,345...46,621,487
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G |
Kat5 |
lysine acetyltransferase 5 |
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IEP |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 1:212,325,089...212,332,640
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G |
Mb |
myoglobin |
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IEP |
protein:decreased expression:skeletal muscle |
RGD |
PMID:956378 |
RGD:488078620 |
NCBI chr 7:110,640,511...110,647,742
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G |
Pon1 |
paraoxonase 1 |
treatment |
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:16684543 PMID:26926576 |
RGD:11552586, RGD:11553834 |
NCBI chr 4:34,261,312...34,292,327
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G |
Slc11a2 |
solute carrier family 11 member 2 |
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IEP ISO |
protein:increased expression:nasal cavity olfactory epithelium CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17116712 PMID:17116743 |
RGD:2311409 |
NCBI chr 7:131,503,076...131,540,246
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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IEP |
protein:decreased expression:erythrocyte, membrane (rat) |
RGD |
PMID:1317772 |
RGD:10450513 |
NCBI chr10:87,807,010...87,823,274
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17057260 |
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NCBI chr11:42,942,742...42,948,399
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G |
Tf |
transferrin |
susceptibility |
ISO |
DNA:missense mutation:exon:p.G277S ClinVar Annotator: match by term: Iron deficiency anemia |
ClinVar RGD |
PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 PMID:11703331 More...
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RGD:1601513 |
NCBI chr 8:103,789,780...103,816,487
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G |
Tfrc |
transferrin receptor |
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ISO |
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism mRNA:increased expression:placenta: |
CTD RGD |
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 PMID:26303393 More...
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RGD:11062096, RGD:11062105, RGD:11062104 |
NCBI chr11:81,668,478...81,690,318
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G |
Tmprss6 |
transmembrane serine protease 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18408718 PMID:22169218 |
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NCBI chr 7:109,991,008...110,021,626
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G |
Tnf |
tumor necrosis factor |
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ISO |
DNA:SNP:promoter:rs1800629 (human) |
RGD |
PMID:18716131 |
RGD:10450563 |
NCBI chr20:3,626,685...3,629,303
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G |
Rbp4 |
retinol binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9888420 |
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NCBI chr 1:235,893,917...235,901,315
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr 8:66,991,940...66,998,014
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr 1:247,879,058...247,916,804
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
DNA:polymorphism: :p.P198L (human) |
RGD |
PMID:21055077 |
RGD:11352821 |
NCBI chr 8:117,905,462...117,906,588
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G |
Lepr |
leptin receptor |
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ISO |
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency |
OMIM ClinVar |
PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:34097736 More...
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NCBI chr 5:121,409,735...121,593,201
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G |
Leprot |
leptin receptor overlapping transcript |
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ISO |
ClinVar Annotator: match by term: Leptin receptor deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:116,289,843...116,301,951
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G |
Cbs |
cystathionine beta synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16709328 |
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NCBI chr20:9,708,089...9,732,623
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16709328 |
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NCBI chr 5:163,748,346...163,768,141
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|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16709328 |
|
NCBI chr17:62,911,705...62,996,544
|
|
G |
Nefl |
neurofilament light chain |
|
IEP |
protein:increased expression:cerebral cortex |
RGD |
PMID:1908892 |
RGD:40902817 |
NCBI chr15:46,477,330...46,481,203
|
|
G |
Nefm |
neurofilament medium chain |
|
IEP |
protein:increased expression:cerebral cortex |
RGD |
PMID:1908892 |
RGD:40902817 |
NCBI chr15:46,535,857...46,541,161
|
|
|
G |
Eif2s3 |
eukaryotic translation initiation factor 2 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 PMID:28492532 PMID:30878599 More...
|
|
NCBI chr X:58,916,513...58,939,923
|
|
|
G |
C5h1orf167 |
similar to human chromosome 1 open reading frame 167 |
|
ISO |
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:163,770,495...163,788,791
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency 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:17457696 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: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:28468868 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:31589614 PMID:31870219 PMID:32161077 PMID:32230794 PMID:32451826 PMID:32612964 PMID:32695297 PMID:32939339 PMID:33089527 PMID:33125268 PMID:34015165 PMID:34214447 PMID:34347262 PMID:34845156 PMID:35008593 PMID:35322348 PMID:35499206 PMID:35578252 PMID:36901693 PMID:37239340 More...
|
|
NCBI chr 5:163,748,346...163,768,141
|
|
|
G |
Cenpt |
centromere protein T |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 PMID:31905202 |
|
NCBI chr19:50,644,548...50,651,048
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:157,159,051...157,185,559
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO ISS |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM:309541 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 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:31139143 PMID:31998365 PMID:33880059 PMID:35013307 PMID:37264743 More...
|
|
NCBI chr X:156,839,100...156,864,132
|
|
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:156,919,927...156,929,825
|
|
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:156,932,481...156,995,981
|
|
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:156,807,378...156,812,632
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:157,056,355...157,076,716
|
|
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:156,812,785...156,821,860
|
|
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:157,076,824...157,110,988
|
|
G |
Thap11 |
THAP domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 PMID:31905202 |
|
NCBI chr19:50,656,839...50,658,656
|
|
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:157,105,455...157,138,510
|
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria |
ClinVar |
PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:26467025 PMID:28492532 PMID:28835862 PMID:29294253 PMID:29302025 PMID:31137025 PMID:31279840 PMID:32164588 PMID:33562640 PMID:36338977 More...
|
|
NCBI chr 5:130,166,056...130,172,735
|
|
|
G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
|
ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 PMID:28572511 PMID:30651581 PMID:33729671 PMID:33845046 More...
|
|
NCBI chr 6:104,246,459...104,260,965
|
|
G |
Dcdc2c |
doublecortin domain containing 2C |
|
ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:45,103,838...45,179,040
|
|
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:156,839,100...156,864,132
|
|
G |
Lmbrd1 |
LMBR1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 PMID:26997947 PMID:28492532 PMID:34958133 More...
|
|
NCBI chr 9:27,096,387...27,178,095
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO ISS |
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM:277400 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 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: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: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:31589614 PMID:31998365 PMID:32058304 PMID:32071835 PMID:32099815 PMID:32164588 PMID:32439973 PMID:32457044 PMID:32481360 PMID:32778825 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:34976764 PMID:35156754 PMID:35190856 PMID:35193651 PMID:35361390 PMID:36056359 PMID:36184083 PMID:36338977 PMID:37466676 PMID:38387306 PMID:38750596 More...
|
|
NCBI chr 5:130,166,056...130,172,735
|
|
G |
Mmadhc |
metabolism of cobalamin associated D |
|
ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 PMID:32252256 PMID:33552904 More...
|
|
NCBI chr 3:34,708,649...34,726,554
|
|
G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
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: PRDX1-related condition | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 PMID:25388550 PMID:25741868 PMID:25772322 PMID:27383490 PMID:28327205 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 More...
|
|
NCBI chr 5:135,383,906...135,399,504
|
|
G |
Thap11 |
THAP domain containing 11 |
|
ISS |
OMIM:277400 |
MouseDO |
|
|
NCBI chr19:50,656,839...50,658,656
|
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type |
ClinVar |
PMID:16311595 PMID:16714133 PMID:17431913 PMID:19370762 PMID:19760748 PMID:20631720 PMID:24577983 PMID:25511120 PMID:25741868 PMID:26149271 PMID:26563984 PMID:28492532 PMID:33515116 More...
|
|
NCBI chr 5:130,166,056...130,172,735
|
|
G |
Mmadhc |
metabolism of cobalamin associated D |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2339678 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 3:34,708,649...34,726,554
|
|
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 chr10:101,540,479...101,549,022
|
|
|
G |
Col19a1 |
collagen type XIX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF |
ClinVar |
PMID:19136951 PMID:21303734 PMID:28492532 |
|
NCBI chr 9:26,673,916...27,022,139
|
|
G |
Col9a1 |
collagen type IX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF |
ClinVar |
PMID:19136951 PMID:21303734 PMID:28492532 |
|
NCBI chr 9:26,585,034...26,668,222
|
|
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 PMID:36755623 More...
|
|
NCBI chr 9:27,096,387...27,178,095
|
|
|
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 OMIM ClinVar |
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:25758715 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:30676783 PMID:32533987 PMID:32581362 PMID:34269512 PMID:34625984 PMID:37404677 More...
|
|
NCBI chr17:62,911,705...62,996,544
|
|
G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
ISO |
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:34,866,991...34,899,425
|
|
|
G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 PMID:30293248 PMID:33845046 More...
|
|
NCBI chr 6:104,246,459...104,260,965
|
|
|
G |
Cenpt |
centromere protein T |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE |
ClinVar |
PMID:25741868 PMID:28449119 PMID:31905202 |
|
NCBI chr19:50,644,548...50,651,048
|
|
G |
Thap11 |
THAP domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE |
OMIM ClinVar |
PMID:25741868 PMID:28449119 PMID:31905202 |
|
NCBI chr19:50,656,839...50,658,656
|
|
|
G |
Acss2 |
acyl-CoA synthetase short-chain family member 2 |
treatment |
ISO |
|
RGD |
PMID:22384010 |
RGD:13831306 |
NCBI chr 3:144,003,808...144,047,452
|
|
G |
Adcy3 |
adenylate cyclase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29311637 |
|
NCBI chr 6:32,819,602...32,923,174
|
|
G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO |
|
RGD |
PMID:22828946 |
RGD:7243249 |
NCBI chr20:4,152,758...4,155,956
|
|
G |
Apln |
apelin |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma |
RGD |
PMID:19756893 PMID:15970339 |
RGD:2313938, RGD:1600932 |
NCBI chr X:132,058,739...132,091,518
|
|
G |
Aqp7 |
aquaporin 7 |
|
ISO |
mRNA:decreased expression:subcutaneous adipose tissue |
RGD |
PMID:17566090 |
RGD:1626289 |
NCBI chr 5:56,171,649...56,186,642
|
|
G |
Bbs4 |
Bardet-Biedl syndrome 4 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr 8:59,731,912...59,765,408
|
|
G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21708048 |
|
NCBI chr 3:116,619,633...116,670,212
|
|
G |
Cck |
cholecystokinin |
|
ISO |
|
RGD |
PMID:17443025 |
RGD:1625798 |
NCBI chr 8:121,153,499...121,160,194
|
|
G |
Cpe |
carboxypeptidase E |
|
ISO |
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects |
RGD |
PMID:12530526 |
RGD:1626182 |
NCBI chr16:25,030,276...25,142,231
|
|
G |
Ctnnbl1 |
catenin, beta like 1 |
susceptibility no_association |
ISO |
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) |
RGD |
PMID:19245693 PMID:19228371 |
RGD:9850251, RGD:9850253 |
NCBI chr 3:166,807,899...166,968,932
|
|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
|
RGD |
PMID:12883487 |
RGD:1626305 |
NCBI chr 1:205,269,967...205,280,365
|
|
G |
Ghrl |
ghrelin and obestatin prepropeptide |
|
ISO |
|
RGD |
PMID:19188925 |
RGD:2313745 |
NCBI chr 4:146,865,712...146,869,621
|
|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
mRNA:increased expression:subcutaneous adipose tissue |
RGD |
PMID:16046292 |
RGD:1626320 |
NCBI chr 6:98,357,788...98,405,068
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:11889184 |
RGD:1626666 |
NCBI chr 3:27,509,836...27,525,738
|
|
G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21708048 |
|
NCBI chr15:302,480...1,007,675
|
|
G |
Ksr2 |
kinase suppressor of ras 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr12:44,462,579...44,848,555
|
|
G |
Lep |
leptin |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:9500540 PMID:15070752 |
|
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9537324 |
|
NCBI chr 5:121,409,735...121,593,201
|
|
G |
Lpin1 |
lipin 1 |
|
ISO |
|
RGD |
PMID:17563064 |
RGD:1641822 |
NCBI chr 6:45,039,110...45,145,845
|
|
G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29273807 PMID:29311635 PMID:11443223 PMID:12588803 |
RGD:1600755, RGD:1600750 |
NCBI chr18:62,689,798...62,691,685
|
|
G |
Mchr1 |
melanin-concentrating hormone receptor 1 |
onset |
ISO |
DNA:SNP:promoter |
RGD |
PMID:16186414 |
RGD:1624359 |
NCBI chr 7:112,761,554...112,764,746
|
|
G |
Nppb |
natriuretic peptide B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17273651 |
RGD:1642195 |
NCBI chr 5:163,699,955...163,701,314
|
|
G |
Npy2r |
neuropeptide Y receptor Y2 |
|
ISO |
|
RGD |
PMID:15855352 |
RGD:1642381 |
NCBI chr 2:167,901,999...167,912,165
|
|
G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
onset |
ISO |
|
RGD |
PMID:16702999 |
RGD:1626135 |
NCBI chr17:5,560,558...5,875,899
|
|
G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
|
ISO |
|
RGD |
PMID:11874690 |
RGD:1357926 |
NCBI chr 2:4,395,543...4,442,434
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
|
RGD |
PMID:11874690 |
RGD:1357926 |
NCBI chr 6:32,659,137...32,665,175
|
|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
ClinVar Annotator: match by term: Morbid obesity |
ClinVar |
PMID:9753710 PMID:10690291 PMID:25157153 PMID:28492532 |
|
NCBI chr 4:150,095,743...150,221,104
|
|
G |
Ucp3 |
uncoupling protein 3 |
|
ISO |
ClinVar Annotator: match by term: OBESITY, SEVERE |
ClinVar |
PMID:9769326 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:154,815,777...154,828,764
|
|
|
G |
Cep19 |
centrosomal protein 19 |
|
ISO |
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure |
OMIM ClinVar |
PMID:24268657 PMID:25741868 PMID:28492532 |
|
NCBI chr11:68,677,869...68,687,117
|
|
|
G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:25818971 PMID:26075876 PMID:26092869 PMID:26748598 PMID:27353947 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:32483926 PMID:33749171 PMID:34188062 PMID:34234304 PMID:36909829 PMID:19668215 More...
|
RGD:12911209 |
NCBI chr 3:29,614,868...29,627,542
|
|
|
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: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: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 5:163,748,346...163,768,141
|
|
|
G |
Slc30a2 |
solute carrier family 30 member 2 |
|
ISO |
ClinVar Annotator: match by term: Zinc deficiency, transient neonatal CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 |
|
NCBI chr 5:151,843,451...151,855,674
|
|
|
G |
Ccs |
copper chaperone for superoxide dismutase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12514262 |
|
NCBI chr 1:202,113,792...202,134,931
|
|
G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12514262 |
|
NCBI chr 2:104,368,336...104,427,119
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
IEP ISO |
Copper Deficiency; protein:decreased activity:erythrocyte (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12514262 PMID:15337829 |
RGD:1358244 |
NCBI chr11:42,942,742...42,948,399
|
|
|
G |
Aacs |
acetoacetyl-CoA synthetase |
|
IEP |
mRNA:altered expression:thalamus, hypothalamus (rat) |
RGD |
PMID:19219059 |
RGD:2326191 |
NCBI chr12:31,113,098...31,156,411
|
|
G |
Abca1 |
ATP binding cassette subfamily A member 1 |
susceptibility disease_progression |
ISO IEP |
DNA:SNP:exon:p.R230C (rs9282541) (human) mRNA:increased expression:liver (rat) |
RGD |
PMID:17287470 PMID:25612518 |
RGD:1601092, RGD:15045599 |
NCBI chr 5:72,473,676...72,596,563
|
|
G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
|
ISO |
|
RGD |
PMID:21726512 |
RGD:14688050 |
NCBI chr 3:74,424,620...74,520,646
|
|
G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
disease_progression |
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25612518 |
RGD:15045599 |
NCBI chr 6:9,965,118...9,990,563
|
|
G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
|
ISO |
|
RGD |
PMID:15331430 |
RGD:1601095 |
NCBI chr 6:9,945,629...9,964,912
|
|
G |
Acacb |
acetyl-CoA carboxylase beta |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle myocardium (rat) |
CTD RGD |
PMID:20882379 PMID:33310031 |
RGD:329955450 |
NCBI chr12:48,026,394...48,138,214
|
|
G |
Acadm |
acyl-CoA dehydrogenase medium chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 2:245,518,693...245,542,864
|
|
G |
Ace |
angiotensin I converting enzyme |
no_association |
IEP ISO |
protein:increased expression:liver |
RGD |
PMID:19361967 PMID:17164796 |
RGD:2325227, RGD:1601115 |
NCBI chr10:91,410,129...91,430,246
|
|
G |
Ache |
acetylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr12:25,042,882...25,050,608
|
|
G |
Acly |
ATP citrate lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr10:85,412,045...85,464,253
|
|
G |
Acox1 |
acyl-CoA oxidase 1 |
treatment |
IEP |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr10:101,905,083...101,930,136
|
|
G |
Acp1 |
acid phosphatase 1 |
severity |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:2373509 PMID:9198310 |
RGD:1625289, RGD:2313187 |
NCBI chr 6:53,233,937...53,249,576
|
|
G |
Acp5 |
acid phosphatase 5, tartrate resistant |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 8:28,939,984...28,946,639
|
|
G |
Acsl1 |
acyl-CoA synthetase long-chain family member 1 |
|
ISO IEP |
mRNA:decreased expression:subcutaneous adipose tissue mRNA, protein:increased expression:adipose tissue, liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:16788709 PMID:1543733 |
RGD:1625735, RGD:1625737 |
NCBI chr16:45,755,246...45,821,541
|
|
G |
Ada |
adenosine deaminase |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:16501670 |
RGD:1624289 |
NCBI chr 3:152,398,745...152,422,854
|
|
G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
|
IMP |
associated with Hyperphagia |
RGD |
PMID:17567573 |
RGD:10450894 |
NCBI chr20:11,222,569...11,350,854
|
|
G |
Adcy3 |
adenylate cyclase 3 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity |
CTD ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29311635 PMID:30568259 More...
|
RGD:407550184 |
NCBI chr 6:32,819,602...32,923,174
|
|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
IEP ISO |
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma associated with myocardial infarction; protein:decreased expression:plasma associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:10092513 PMID:14617771 PMID:16092047 PMID:19606374 PMID:18303100 PMID:18651432 PMID:23731386 PMID:28843383 More...
|
RGD:1599149, RGD:2313239, RGD:5686809, RGD:5686813, RGD:8695927, RGD:14975146 |
NCBI chr11:91,226,524...91,240,244
|
|
G |
Adipor1 |
adiponectin receptor 1 |
|
IEP ISO |
mRNA:increased expression:liver mRNA:decreased expression:lymphocyte |
RGD |
PMID:16483885 PMID:17391161 |
RGD:1625763, RGD:1625761 |
NCBI chr13:48,411,438...48,431,251
|
|
G |
Adipor2 |
adiponectin receptor 2 |
treatment severity |
IEP |
mRNA:increased expression:liver mRNA:decreased expression:liver (rat) associated with non-alcoholic fatty liver disease |
RGD |
PMID:16483885 PMID:30225267 PMID:23838384 PMID:30131158 |
RGD:1625763, RGD:21406435, RGD:8695926, RGD:25824942 |
NCBI chr 4:152,524,604...152,588,848
|
|
G |
Adm |
adrenomedullin |
|
ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:16793965 |
RGD:1625297 |
NCBI chr 1:174,164,178...174,182,372
|
|
G |
Adora1 |
adenosine A1 receptor |
|
ISO |
|
RGD |
PMID:16507638 |
RGD:1625369 |
NCBI chr13:45,658,872...45,695,821
|
|
G |
Adra2a |
adrenoceptor alpha 2A |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:263,066,780...263,069,580
|
|
G |
Adra2b |
adrenoceptor alpha 2B |
|
ISO |
|
RGD |
PMID:10404816 |
RGD:1300265 |
NCBI chr 3:114,585,174...114,589,220
|
|
G |
Adrb1 |
adrenoceptor beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12032746 |
|
NCBI chr 1:265,777,103...265,780,114
|
|
G |
Adrb2 |
adrenoceptor beta 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: :p.R16G, p.Q27E CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15687340 PMID:17027833 PMID:17221209 PMID:15118671 PMID:12161655 |
RGD:1601122, RGD:1601119, RGD:1331525, RGD:737773 |
NCBI chr18:57,912,760...57,914,802
|
|
G |
Adrb3 |
adrenoceptor beta 3 |
no_association susceptibility |
ISO |
DNA:missense mutation:cds:p.W64R (human) mRNA:decreased expression:interscapular region, brown adipose tissue (mouse) DNA:missense mutation:cds:p.W64R rs4994 (human) DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human) ClinVar Annotator: match by term: Obesity CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 PMID:9100608 PMID:9112025 PMID:9449691 PMID:9709965 PMID:9814483 PMID:9892244 PMID:10323390 PMID:10323402 PMID:10999801 PMID:11095426 PMID:15472194 PMID:25741868 PMID:9126344 PMID:19373220 PMID:11882399 PMID:9892244 More...
|
RGD:1559325, RGD:5684359, RGD:5684409, RGD:5684773 |
NCBI chr16:64,839,820...64,844,552
|
|
G |
Aff4 |
ALF transcription elongation factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
|
NCBI chr10:37,998,319...38,080,580
|
|
G |
Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
|
ISO |
|
RGD |
PMID:20068140 |
RGD:13838849 |
NCBI chr 7:62,897,282...62,914,295
|
|
G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:23046363 PMID:22761461 |
RGD:7243247, RGD:7243250 |
NCBI chr20:4,152,758...4,155,956
|
|
G |
Agrp |
agouti related neuropeptide |
|
IEP ISO |
mRNA:increased expression:hypothalamus DNA:polymorphism:exon:c.199G>A, pAla67Thr (human) DNA:polymorphism:promoter:-38C>T (human) ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity, late-onset CTD Direct Evidence: marker/mechanism DNA:SNP:T67A (rs5030980) (human) |
OMIM ClinVar CTD RGD |
PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 PMID:18001323 PMID:12213871 PMID:11344185 PMID:11554767 PMID:15118671 PMID:23900445 More...
|
RGD:2311538, RGD:1625232, RGD:1300272, RGD:2314000, RGD:1331525, RGD:405650675 |
NCBI chr19:33,447,992...33,481,602
|
|
G |
Agt |
angiotensinogen |
susceptibility |
ISO |
DNA:polymorphism: :p.M235T DNA:polymorphism: :p.T174M |
RGD |
PMID:16713443 PMID:16514903 |
RGD:1601142, RGD:1601143 |
NCBI chr19:69,426,540...69,447,017
|
|
G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
|
RGD |
PMID:15793237 |
RGD:2313554 |
NCBI chr X:116,914,320...116,918,504
|
|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
mRNA:increased expression:vastus lateralis |
RGD |
PMID:20045148 |
RGD:11537398 |
NCBI chr 1:17,580,859...17,711,775
|
|
G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27020609 PMID:30813227 PMID:31306034 |
|
NCBI chr 6:57,961,423...57,998,901
|
|
G |
Ahsg |
alpha-2-HS-glycoprotein |
susceptibility |
ISO |
protein:increased expression:serum |
RGD |
PMID:17011519 PMID:19228823 PMID:17011519 |
RGD:1625793, RGD:2313809, RGD:1625793 |
NCBI chr11:78,121,388...78,127,998
|
|
G |
Ak1 |
adenylate kinase 1 |
|
ISO |
protein:increased expression:skeletal muscle |
RGD |
PMID:15855311 |
RGD:1601154 |
NCBI chr 3:36,310,113...36,320,760
|
|
G |
Akap1 |
A-kinase anchoring protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
|
NCBI chr10:74,118,232...74,151,366
|
|
G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
|
ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr17:70,720,397...70,747,285
|
|
G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr17:70,669,684...70,717,935
|
|
G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr17:71,020,884...71,037,779
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased phosphorylation:aorta |
CTD RGD |
PMID:23954404 PMID:19293429 |
RGD:408364952 |
NCBI chr 6:137,534,810...137,555,131
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO IEP |
protein:decreased activity:rectus abdominis (human) protein:decreased expression:plantaris (rat) |
RGD |
PMID:12663464 PMID:17923673 PMID:18508911 |
RGD:2313409, RGD:2313406, RGD:2313320 |
NCBI chr 1:92,004,705...92,061,420
|
|
G |
Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 4:123,059,989...123,106,471
|
|
G |
Aldh6a1 |
aldehyde dehydrogenase 6 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 6:104,077,975...104,098,636
|
|
G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 4:119,683,085...119,783,471
|
|
G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
|
IEP ISO |
mRNA:increased expression:adipose tissue, fat cell |
RGD |
PMID:20978234 PMID:18780776 |
RGD:5509594, RGD:5509628 |
NCBI chr10:54,958,263...54,970,542
|
|
G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
|
ISO |
mRNA:increased expression:adipose tissue (mouse) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:17379835 PMID:19596146 |
RGD:2313913, RGD:2313884 |
NCBI chr12:10,785,254...10,809,295
|
|
G |
Amh |
anti-Mullerian hormone |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:17109858 |
RGD:1601182 |
NCBI chr 7:9,557,451...9,559,867
|
|
G |
Ang |
angiogenin |
|
ISO |
protein:increased expression:adipose tissue |
RGD |
PMID:22748184 |
RGD:6892722 |
NCBI chr15:24,312,711...24,323,361
|
|
G |
Angptl4 |
angiopoietin-like 4 |
resistance |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:28842503 PMID:17210919 |
RGD:1625353 |
NCBI chr 7:14,550,288...14,557,797
|
|
G |
Angptl6 |
angiopoietin-like 6 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 8:27,689,804...27,696,172
|
|
G |
Ankrd26 |
ankyrin repeat domain containing 26 |
|
ISO ISS |
OMIM:601665 |
MouseDO RGD |
PMID:18162531 |
RGD:9681744 |
NCBI chr 4:151,670,604...151,740,032
|
|
G |
Aoc3 |
amine oxidase, copper containing 3 |
|
IMP |
|
RGD |
PMID:17977742 |
RGD:2313916 |
NCBI chr10:86,272,757...86,280,702
|
|
G |
Apcdd1 |
APC down-regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
|
NCBI chr18:56,385,398...56,416,065
|
|
G |
Apln |
apelin |
|
IEP |
mRNA:increased expression:subcutaneous adipose tissue |
RGD |
PMID:17594060 |
RGD:1626170 |
NCBI chr X:132,058,739...132,091,518
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
protein:decreased expression |
RGD |
PMID:9933608 PMID:12725089 |
RGD:2313959, RGD:1601185 |
NCBI chr 8:55,423,945...55,425,729
|
|
G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9933608 PMID:9002300 |
RGD:2313959, RGD:1601191 |
NCBI chr13:83,644,460...83,646,358
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 8:55,435,779...55,438,160
|
|
G |
Apoa5 |
apolipoprotein A5 |
|
ISO |
DNA:SNP: :rs662799 (human) |
GAD RGD |
PMID:15118671 PMID:25606423 |
RGD:1331525, RGD:329901774 |
NCBI chr 8:46,561,180...46,563,818
|
|
G |
Apob |
apolipoprotein B |
|
ISO |
associated with Insulin Resistance;protein:increased expression:plasma |
RGD GAD |
PMID:19592617 PMID:15118671 |
RGD:2313974, RGD:1331525 |
NCBI chr 6:36,563,704...36,603,300
|
|
G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:8781289 |
RGD:1626278 |
NCBI chr 4:155,800,030...155,828,515
|
|
G |
Apoc1 |
apolipoprotein C1 |
|
ISO |
|
RGD |
PMID:11723061 |
RGD:2313951 |
NCBI chr 1:79,347,057...79,350,340
|
|
G |
Apoc2 |
apolipoprotein C2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9002300 |
RGD:1601191 |
NCBI chr 1:79,329,429...79,334,397
|
|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
protein:increased expression:serum |
RGD GAD |
PMID:9002300 PMID:15118671 |
RGD:1601191, RGD:1331525 |
NCBI chr 8:46,531,478...46,533,658
|
|
G |
Apod |
apolipoprotein D |
|
ISO |
DNA:polymorphism |
RGD |
PMID:7913935 |
RGD:2311179 |
NCBI chr11:82,936,216...82,957,264
|
|
G |
Apoe |
apolipoprotein E |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20975297 PMID:9002300 PMID:15118671 PMID:17192461 |
RGD:1601191, RGD:1331525, RGD:1601230 |
NCBI chr 1:88,481,889...88,485,816
|
|
G |
App |
amyloid beta precursor protein |
treatment |
ISO |
mRNA,protein:increased expression:adipocyte,plasma: |
RGD |
PMID:19672057 |
RGD:10054260 |
NCBI chr11:37,506,207...37,724,351
|
|
G |
Aqp7 |
aquaporin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16325777 |
|
NCBI chr 5:56,171,649...56,186,642
|
|
G |
Ar |
androgen receptor |
susceptibility |
ISO ISS |
DNA:repeats: :GGN, CAG associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG OMIM:601665 |
MouseDO RGD |
PMID:12532157 PMID:15118671 PMID:18805913 |
RGD:1601246, RGD:1331525, RGD:2306771 |
NCBI chr X:63,104,771...63,273,934
|
|
G |
Arl13b |
ARF like GTPase 13B |
|
ISO |
protein:decreased expression:hypothalamus, cilium (mouse) |
RGD |
PMID:22581473 |
RGD:11553936 |
NCBI chr11:13,597,538...13,663,681
|
|
G |
Asip |
agouti signaling protein |
susceptibility |
ISO ISS |
DNA, mRNA:deletion, insertions, increased expression: multiple organs OMIM:601665 CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:1473152 PMID:8146154 PMID:25447408 PMID:25448685 PMID:32937126 PMID:7987393 More...
|
RGD:1625724 |
NCBI chr 3:163,933,768...164,021,377
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
susceptibility |
ISO |
|
RGD |
PMID:16286513 |
RGD:1601250 |
NCBI chr13:84,729,597...84,754,544
|
|
G |
Atp4b |
ATPase H+/K+ transporting subunit beta |
treatment |
IDA |
|
RGD |
PMID:25822172 |
RGD:14696745 |
NCBI chr16:76,144,150...76,153,063
|
|
G |
Atp5f1b |
ATP synthase F1 subunit beta |
treatment |
IDA |
|
RGD |
PMID:26880535 |
RGD:13782133 |
NCBI chr 7:515,454...521,858
|
|
G |
Atp5f1c |
ATP synthase F1 subunit gamma |
|
ISO |
|
RGD |
PMID:19549744 |
RGD:14696798 |
NCBI chr17:73,333,584...73,355,872
|
|
G |
Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
IDA |
|
RGD |
PMID:27874268 |
RGD:13792665 |
NCBI chr 7:9,560,604...9,565,919
|
|
G |
Atp5mc2 |
ATP synthase membrane subunit c locus 2 |
|
ISO |
|
RGD |
PMID:26709097 |
RGD:11535661 |
NCBI chr 7:133,791,341...133,799,713
|
|
G |
Atpaf1 |
ATP synthase mitochondrial F1 complex assembly factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 5:129,265,789...129,292,463
|
|
G |
Atrn |
attractin |
|
ISO |
|
RGD |
PMID:10086355 |
RGD:734623 |
NCBI chr 3:118,110,320...118,244,326
|
|
G |
Azgp1 |
alpha-2-glycoprotein 1, zinc-binding |
|
ISO IEP |
associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue protein:decreased expression:plasma mRNA, protein:decreased expression:fat pad, liver,plasma mRNA:decreased expression:fat pad |
RGD |
PMID:29755407 PMID:21136593 PMID:19934249 PMID:19934249 |
RGD:153350147, RGD:153350156, RGD:153350157, RGD:153350157 |
NCBI chr12:16,930,990...16,939,333
|
|
G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:15517379 |
RGD:1601309 |
NCBI chr 3:129,549,236...129,555,354
|
|
G |
Bad |
BCL2-associated agonist of cell death |
|
IEP |
protein:increased expression:heart left ventricle |
RGD |
PMID:18070754 |
RGD:2292682 |
NCBI chr 1:213,562,719...213,572,034
|
|
G |
Bambi |
BMP and activin membrane-bound inhibitor |
|
ISO |
mRNA:decreased expression:adipose tissue |
RGD |
PMID:22187378 |
RGD:14390162 |
NCBI chr17:58,816,438...58,821,003
|
|
G |
Bbs1 |
Bardet-Biedl syndrome 1 |
no_association |
ISO ISS |
DNA:mutation: :p.M390R (human) OMIM:601665 |
MouseDO RGD |
PMID:14993910 PMID:33722691 |
RGD:1601314, RGD:243065268 |
NCBI chr 1:202,184,812...202,204,118
|
|
G |
Bbs2 |
Bardet-Biedl syndrome 2 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr19:10,909,653...10,944,998
|
|
G |
Bbs4 |
Bardet-Biedl syndrome 4 |
onset |
ISO ISS |
DNA:SNPs OMIM:601665 |
MouseDO RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr 8:59,731,912...59,765,408
|
|
G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 |
|
NCBI chr 2:160,607,289...160,699,760
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
mRNA, protein:decreased expression:heart left ventricle |
RGD |
PMID:18202171 |
RGD:2293027 |
NCBI chr13:23,204,464...23,366,900
|
|
G |
Bdkrb1 |
bradykinin receptor B1 |
|
ISO |
|
RGD |
PMID:17184856 |
RGD:1625733 |
NCBI chr 6:130,275,631...130,284,968
|
|
G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
protein:decreased expression:plasma ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity |
ClinVar RGD |
PMID:11840487 PMID:25741868 PMID:28492532 PMID:17151862 |
RGD:10059350 |
NCBI chr 3:116,619,633...116,670,212
|
|
G |
Bnip3 |
BCL2 interacting protein 3 |
|
IEP |
|
RGD |
PMID:18070754 |
RGD:2292682 |
NCBI chr 1:203,137,778...203,154,962
|
|
G |
Brd2 |
bromodomain containing 2 |
|
ISO |
|
RGD |
PMID:19883376 |
RGD:9586446 |
NCBI chr20:4,728,282...4,737,286
|
|
G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
|
RGD |
PMID:9367152 |
RGD:734661 |
NCBI chr X:134,906,817...134,932,321
|
|
G |
C3 |
complement C3 |
treatment |
IDA |
|
RGD |
PMID:23118029 |
RGD:7411625 |
NCBI chr 9:2,174,412...2,201,339
|
|
G |
C5ar1 |
complement C5a receptor 1 |
treatment |
IDA |
|
RGD |
PMID:23118029 |
RGD:7411625 |
NCBI chr 1:76,948,622...76,959,826
|
|
G |
Cadm2 |
cell adhesion molecule 2 |
|
ISO |
DNA:SNP: :rs13078807 (human) |
RGD |
PMID:31341224 |
RGD:15092077 |
NCBI chr11:4,548,367...5,525,420
|
|
G |
Canx |
calnexin |
|
ISO |
protein:increased expression:subcutaneous adipose tissue |
RGD |
PMID:18567819 |
RGD:2314284 |
NCBI chr10:35,124,941...35,157,954
|
|
G |
Capn10 |
calpain 10 |
|
ISO |
DNA:SNPs |
RGD |
PMID:16752174 |
RGD:1625047 |
NCBI chr 9:100,943,665...100,957,910
|
|
G |
Car3 |
carbonic anhydrase 3 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:adipocyte |
CTD RGD |
PMID:20882379 PMID:8476041 |
RGD:408426009 |
NCBI chr 2:88,491,666...88,501,299
|
|
G |
Cartpt |
CART prepropeptide |
no_association susceptibility |
ISO |
DNA:deletion, substitution: :1457delA, 1475A>G (human) DNA:missense mutation:exon:729G>C, p.L34F (human) DNA:polymorphism:3' utr (human) ClinVar Annotator: match by term: Obesity CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:11522684 PMID:15326462 PMID:25741868 PMID:10574510 PMID:11522684 PMID:10805512 More...
|
RGD:2313634, RGD:1625192, RGD:2313633 |
NCBI chr 2:32,989,215...32,991,794
|
|
G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22325453 |
|
NCBI chr 8:10,746,338...10,882,295
|
|
G |
Cast |
calpastatin |
|
ISO |
ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:18604207 PMID:22210313 PMID:23383060 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:5,707,633...5,817,213
|
|
G |
Cav1 |
caveolin 1 |
|
IEP |
|
RGD |
PMID:22492718 |
RGD:6784520 |
NCBI chr 4:46,606,538...46,639,616
|
|
G |
Cav2 |
caveolin 2 |
|
IEP |
|
RGD |
PMID:22492718 |
RGD:6784520 |
NCBI chr 4:46,582,681...46,590,058
|
|
G |
Cckar |
cholecystokinin A receptor |
|
IAGP ISO |
DNA:deletion |
RGD |
PMID:9530226 PMID:9192855 |
RGD:7257724, RGD:734711 |
NCBI chr14:57,292,397...57,300,747
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO IEP |
protein, mRNA:increased expression:plasma, fat protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29035695 PMID:17803693 PMID:18469848 |
RGD:2306993, RGD:2307038 |
NCBI chr10:67,503,077...67,504,875
|
|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
IEP |
|
RGD |
PMID:21862610 |
RGD:5683906 |
NCBI chr10:68,963,893...68,965,728
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:18469848 |
RGD:2307038 |
NCBI chr10:68,820,330...68,824,906
|
|
G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:18492752 |
RGD:6483834 |
NCBI chr10:67,514,095...67,515,945
|
|
G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
mRNA:increased expression:adipose tissue |
RGD |
PMID:18492752 |
RGD:6483834 |
NCBI chr 8:123,586,100...123,634,178
|
|
G |
Cd163 |
CD163 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr 4:157,085,080...157,118,470
|
|
G |
Cd36 |
CD36 molecule |
|
IEP ISO IMP |
mRNA, protein:increased expression:liver, gastrocnemius protein:increased expression:skeletal muscle, T-tubule |
RGD |
PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 |
RGD:6893497, RGD:6893542, RGD:11041118, RGD:11041132 |
NCBI chr 4:18,209,088...18,302,142
|
|
G |
Cd40 |
CD40 molecule |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29035695 PMID:21670556 |
RGD:7248753 |
NCBI chr 3:174,209,113...174,224,592
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21817098 PMID:20660932 |
RGD:5490592, RGD:5490970 |
NCBI chr X:140,164,341...140,176,057
|
|
G |
Cd68 |
Cd68 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr10:54,880,562...54,882,441
|
|
G |
Cdk4 |
cyclin-dependent kinase 4 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) |
RGD |
PMID:19634152 |
RGD:2314609 |
NCBI chr 7:64,771,453...64,774,891
|
|
G |
Cdkal1 |
CDK5 regulatory subunit associated protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr17:34,718,701...35,271,276
|
|
G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
IEP |
protein:decreased expression:liver |
RGD |
PMID:23357529 |
RGD:10045356 |
NCBI chr 4:169,491,273...169,496,500
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
IEP |
|
RGD |
PMID:22194422 |
RGD:8552660 |
NCBI chr 5:109,100,763...109,114,448
|
|
G |
Cdo1 |
cysteine dioxygenase type 1 |
|
ISO |
|
RGD |
PMID:16627576 |
RGD:2301355 |
NCBI chr18:39,432,473...39,447,253
|
|
G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
|
NCBI chr 1:87,759,631...87,762,303
|
|
G |
Cenpo |
centromere protein O |
|
ISO |
ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:27,203,642...27,218,394
|
|
G |
Cers1 |
ceramide synthase 1 |
|
ISO |
mRNA:increased expression:skeletal muscle cell |
RGD |
PMID:30605666 |
RGD:156431060 |
NCBI chr16:19,131,271...19,146,480
|
|
G |
Ces1d |
carboxylesterase 1D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
|
NCBI chr19:30,046,494...30,085,039
|
|
G |
Cfd |
complement factor D |
|
IEP ISO |
mRNA, protein:decreased expression:adipocyte, serum |
RGD |
PMID:2197880 PMID:14564690 |
RGD:1624327, RGD:1624324 |
NCBI chr 7:9,813,148...9,814,871
|
|
G |
Cidea |
cell death-inducing DFFA-like effector a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20975297 PMID:16186410 |
RGD:1625390 |
NCBI chr18:63,164,817...63,190,384
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
no_association |
ISO IMP IEP |
DNA:polymorphism:exon:3813A>G (human) DNA:polymorphism: :1256C>A, 1419+1G>C (human) CTD Direct Evidence: marker/mechanism DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus DNA:hypermethylation:promoter, peripheral blood mononuclear cell |
CTD RGD |
PMID:18722357 PMID:17405839 PMID:17292652 PMID:19530697 PMID:19325539 PMID:31258545 PMID:31258545 More...
|
RGD:1626325, RGD:1626326, RGD:2314629, RGD:2314630, RGD:401827956, RGD:401827956 |
NCBI chr 5:53,204,867...53,230,396
|
|
G |
Cntf |
ciliary neurotrophic factor |
no_association |
ISO |
DNA:point mutation:intron:G>A |
RGD |
PMID:14747836 PMID:12404108 |
RGD:1626114, RGD:1626113 |
NCBI chr 1:209,887,854...209,889,877
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr10:80,380,458...80,397,461
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
|
IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr 9:54,866,646...54,902,578
|
|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr16:84,885,597...84,996,482
|
|
G |
Comt |
catechol-O-methyltransferase |
susceptibility |
ISO |
DNA:polymorphism:exon |
RGD |
PMID:17497175 |
RGD:2289713 |
NCBI chr11:96,072,371...96,091,956
|
|
G |
Cox7c |
cytochrome c oxidase subunit 7C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 2:18,577,145...18,579,170
|
|
G |
Cox8b |
cytochrome c oxidase, subunit VIIIb |
|
IDA |
|
RGD |
PMID:16027000 |
RGD:2301397 |
NCBI chr 1:195,977,183...195,978,643
|
|
G |
Cpb2 |
carboxypeptidase B2 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16959692 PMID:11836301 |
RGD:2313645 |
NCBI chr15:50,557,722...50,606,569
|
|
G |
Cpe |
carboxypeptidase E |
no_association |
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:601665 DNA:SNP:intron (rs1946816, rs4481204) (human) |
CTD MouseDO RGD |
PMID:15358678 PMID:23434795 PMID:9662053 PMID:7663508 PMID:23900445 |
RGD:1626184, RGD:1626181, RGD:405650675 |
NCBI chr16:25,030,276...25,142,231
|
|
G |
Cps1 |
carbamoyl-phosphate synthase 1 |
|
IEP |
|
RGD |
PMID:15481768 |
RGD:2303517 |
NCBI chr 9:76,063,863...76,186,739
|
|
G |
Cpt1a |
carnitine palmitoyltransferase 1A |
treatment |
IEP |
mRNA:decreased expression:liver mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:16751799 PMID:33310031 |
RGD:2311345, RGD:329955450 |
NCBI chr 1:209,993,881...210,056,329
|
|
G |
Crh |
corticotropin releasing hormone |
|
IDA |
|
RGD |
PMID:11564446 |
RGD:5508830 |
NCBI chr 2:104,059,184...104,061,048
|
|
G |
Crhbp |
corticotropin releasing hormone binding protein |
|
IEP |
mRNA:decreased expression:anterior pituitary gland (rat) |
RGD |
PMID:10600923 |
RGD:5508840 |
NCBI chr 2:28,427,139...28,439,446
|
|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
DNA:SNP:CDS:861C>T (human) |
RGD |
PMID:14724656 |
RGD:1626226 |
NCBI chr10:89,540,192...89,583,466
|
|
G |
Crp |
C-reactive protein |
disease_progression |
ISO IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (rat) |
CTD RGD |
PMID:24042701 PMID:20660932 PMID:25612518 |
RGD:5490970, RGD:15045599 |
NCBI chr13:87,694,062...87,695,978
|
|
G |
Cs |
citrate synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 7:1,348,389...1,374,624
|
|
G |
Cst3 |
cystatin C |
|
IEP ISO |
protein:increased expression:plasma (rat) protein:increased expression:serum (human) |
RGD |
PMID:18946178 PMID:18374694 |
RGD:2314297, RGD:2314346 |
NCBI chr 3:136,336,923...136,340,796
|
|
G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21803294 |
|
NCBI chr 1:182,328,035...182,336,346
|
|
G |
Ctsc |
cathepsin C |
|
IEP |
|
RGD |
PMID:3705543 |
RGD:1599645 |
NCBI chr 1:142,028,386...142,059,841
|
|
G |
Ctss |
cathepsin S |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21156398 |
|
NCBI chr 2:185,775,316...185,803,440
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
DNA:SNP: :p.T280M (human) |
RGD |
PMID:20523302 |
RGD:4891903 |
NCBI chr 8:128,661,294...128,679,048
|
|
G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
|
ISO |
|
RGD |
PMID:25016030 |
RGD:13673852 |
NCBI chr13:42,630,383...42,634,288
|
|
G |
Cyb5a |
cytochrome b5 type A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr18:78,213,067...78,245,677
|
|
G |
Cycs |
cytochrome c, somatic |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317704 |
|
NCBI chr 4:80,982,667...80,984,767
|
|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27036855 |
|
NCBI chr 6:21,093,927...21,103,091
|
|
G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 4:117,041,808...117,058,628
|
|
G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) |
RGD |
PMID:17223345 |
RGD:2307312 |
NCBI chr 7:64,756,626...64,761,570
|
|
G |
Cyp2b1 |
cytochrome P450, family 2, subfamily b, polypeptide 1 |
|
IEP |
protein:decreased expression:liver |
RGD |
PMID:18589557 |
RGD:2301455 |
NCBI chr 1:90,646,098...90,669,762
|
|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
IEP ISO |
protein:increased activity:liver,fat CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23954404 PMID:17049493 |
RGD:1626307 |
NCBI chr 1:205,269,967...205,280,365
|
|
G |
Cyp2r1 |
cytochrome P450, family 2, subfamily r, polypeptide 1 |
|
ISO |
associated with hypertension:DNA:SNP:CDS: rs12794714 (human) |
RGD |
PMID:34906413 |
RGD:401900724 |
NCBI chr 1:168,749,302...168,798,079
|
|
G |
Dcn |
decorin |
|
IEP |
|
RGD |
PMID:17244723 |
RGD:1600551 |
NCBI chr 7:34,167,973...34,208,004
|
|
G |
Dcxr |
dicarbonyl and L-xylulose reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr10:106,006,404...106,008,293
|
|