|
G |
Ahcy |
adenosylhomocysteinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15024124 |
|
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
|
|
G |
Aldh6a1 |
aldehyde dehydrogenase 6 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10947204 |
|
NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
|
|
G |
Arg1 |
arginase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21239484 |
|
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
|
|
G |
Asl |
argininosuccinate lyase |
|
ISO |
Argininosuccinic Aciduria; DNA:mutations:multiple (human) |
RGD |
PMID:2263616 |
RGD:734610 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
|
|
G |
Cth |
cystathionine gamma-lyase |
|
ISO |
cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E |
RGD |
PMID:12574942 |
RGD:1600761 |
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
|
|
G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15609246 |
|
NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
|
|
G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21239484 |
|
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15651030 PMID:8651275 |
RGD:1601275 |
NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
|
|
G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10515893 |
|
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
|
|
G |
Gcsh |
glycine cleavage system protein H |
|
ISO |
protein:decreased activity:liver: |
RGD |
PMID:7070876 |
RGD:12904659 |
NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
|
|
G |
Hmgcl |
3-hydroxy-3-methylglutaryl-CoA lyase |
|
ISO |
Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency |
RGD |
PMID:8440722 |
RGD:1599500 |
NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
|
|
G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
ISO |
isovaleric acidemia, OMIM:243500 |
RGD |
PMID:2063866 |
RGD:1600039 |
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
|
|
G |
Mat1a |
methionine adenosyltransferase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7560086 PMID:8770875 |
|
NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
|
|
G |
Nags |
N-acetylglutamate synthase |
|
ISO |
N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X |
RGD |
PMID:12594532 |
RGD:1600560 |
NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
|
|
G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
|
ISO |
propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT |
RGD |
PMID:9385377 |
RGD:1600306 |
NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
|
|
G |
Pccb |
propionyl-CoA carboxylase subunit beta |
|
ISO |
propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W |
RGD |
PMID:8411997 |
RGD:1600331 |
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
|
|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M |
RGD |
PMID:11055895 |
RGD:1600412 |
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
|
|
G |
Prodh |
proline dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17412540 PMID:12217952 |
RGD:1599206 |
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
|
|
G |
Psph |
phosphoserine phosphatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14673469 |
|
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
|
|
G |
Secisbp2 |
SECIS binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16228000 |
|
NCBI chr17:13,538,513...13,569,573
Ensembl chr17:13,538,513...13,569,523
|
|
G |
Slc25a15 |
solute carrier family 25 member 15 |
|
ISO |
|
RGD |
PMID:10369256 PMID:10805333 |
RGD:1599239, RGD:1599240 |
NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
|
|
G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11544277 |
|
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
|
|
G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9804340 |
|
NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
|
|
|
G |
Dhtkd1 |
dehydrogenase E1 and transketolase domain containing 1 |
|
ISO ISS |
ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: DHTKD1-related condition OMIM:204750 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8069629 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23141293 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25860818 PMID:26141459 PMID:28454995 PMID:28492532 PMID:28902413 PMID:29127259 PMID:29669943 PMID:29752936 PMID:29858556 PMID:30896807 PMID:32005694 PMID:32303640 PMID:32633484 PMID:32695416 PMID:32768327 PMID:32860008 PMID:33369814 PMID:34169998 PMID:35052424 PMID:35897808 More...
|
|
NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
|
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
|
|
|
G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
|
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
|
|
G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) DNA:mutations:exons:c.169G>A,c.542G>T(human) |
CTD RGD |
PMID:15385440 PMID:15548604 PMID:21937992 PMID:24894778 PMID:25763823 PMID:26208971 More...
|
RGD:13506818, RGD:13506815, RGD:13506814 |
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
|
|
G |
Slc25a1 |
solute carrier family 25 member 1 |
|
ISO |
DNA:mutations:exons: ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 PMID:29238895 PMID:23561848 More...
|
RGD:13506826 |
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
|
|
|
G |
Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase |
OMIM CTD ClinVar |
PMID:9536098 PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 PMID:16199547 PMID:16317551 PMID:17576681 PMID:17945527 PMID:20547083 PMID:23712021 PMID:25741868 PMID:26284228 PMID:28492532 PMID:30626930 PMID:30730842 PMID:31555323 PMID:31785789 PMID:32778825 PMID:34297361 PMID:36147814 More...
|
|
NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
|
|
G |
Ikzf5 |
IKAROS family zinc finger 5 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
|
|
|
G |
Akr7a2 |
aldo-keto reductase family 7, member A2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
|
|
G |
Akr7a3 |
aldo-keto reductase family 7 member A3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394
|
|
G |
Aldh4a1 |
aldehyde dehydrogenase 4 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
|
|
G |
Alpl |
alkaline phosphatase, biomineralization associated |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
|
|
G |
Asap3 |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,433,382...148,476,027
Ensembl chr 5:148,433,494...148,474,073
|
|
G |
C1qa |
complement C1q A chain |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
|
|
G |
C1qb |
complement C1q B chain |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
|
|
G |
C1qc |
complement C1q C chain |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
|
|
G |
Camk2n1 |
calcium/calmodulin-dependent protein kinase II inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
|
|
G |
Capzb |
capping actin protein of muscle Z-line subunit beta |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
|
|
G |
Cda |
cytidine deaminase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
|
|
G |
Cdc42 |
cell division cycle 42 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
|
|
G |
Cela3b |
chymotrypsin like elastase 3B |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
|
|
G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
|
|
G |
Ddost |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
|
|
G |
E2f2 |
E2F transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
|
|
G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
|
|
G |
Eif4g3 |
eukaryotic translation initiation factor 4 gamma, 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363
|
|
G |
Eloa |
elongin A |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,231,600...148,246,760
Ensembl chr 5:148,231,596...148,246,765
|
|
G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
|
|
G |
Epha8 |
Eph receptor A8 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399
|
|
G |
Ephb2 |
Eph receptor B2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
|
|
G |
Fam43b |
family with sequence similarity 43, member B |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601
|
|
G |
Fuca1 |
alpha-L-fucosidase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:9817922 PMID:17692550 PMID:23465862 PMID:28492532 |
|
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
|
|
G |
Gale |
UDP-galactose-4-epimerase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
|
|
G |
Grhl3 |
grainyhead-like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
|
|
G |
Hmgcl |
3-hydroxy-3-methylglutaryl-CoA lyase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar Annotator: match by term: Hydroxymethylglutaric aciduria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2443756 PMID:6085636 PMID:7479590 PMID:8617516 PMID:8798725 PMID:8978493 PMID:9163320 PMID:9439591 PMID:9463337 PMID:9536098 PMID:9784232 PMID:9817922 PMID:10916782 PMID:11129331 PMID:11461194 PMID:12746442 PMID:14518825 PMID:15122894 PMID:15308132 PMID:15752612 PMID:16199547 PMID:16330550 PMID:16601870 PMID:17173698 PMID:17459752 PMID:17576681 PMID:17628222 PMID:17692550 PMID:18080783 PMID:19036343 PMID:19177531 PMID:19932602 PMID:20532825 PMID:23465862 PMID:25741868 PMID:25872961 PMID:28220407 PMID:28257639 PMID:28396157 PMID:28488182 PMID:28492532 PMID:28583327 PMID:28747690 PMID:32059735 PMID:34573903 More...
|
|
NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
|
|
G |
Hnrnpr |
heterogeneous nuclear ribonucleoprotein R |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867
|
|
G |
Hp1bp3 |
heterochromatin protein 1, binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000
|
|
G |
Hspg2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
|
|
G |
Htr1d |
5-hydroxytryptamine receptor 1D |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,656,252...148,676,532
Ensembl chr 5:148,674,495...148,675,619
|
|
G |
Htr6 |
5-hydroxytryptamine receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
|
|
G |
Id3 |
inhibitor of DNA binding 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
|
|
G |
Iffo2 |
intermediate filament family orphan 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345
|
|
G |
Ifnlr1 |
interferon, lambda receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332
|
|
G |
Il22ra1 |
interleukin 22 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296
|
|
G |
Kdm1a |
lysine demethylase 1A |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
|
|
G |
Kif17 |
kinesin family member 17 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638
|
|
G |
Lactbl1 |
lactamase beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,862,736...148,882,108
Ensembl chr 5:148,870,245...148,879,226
|
|
G |
Ldlrad2 |
low density lipoprotein receptor class A domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
|
|
G |
Luzp1 |
leucine zipper protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,706,094...148,781,616
Ensembl chr 5:148,706,138...148,781,609
|
|
G |
Lypla2 |
lysophospholipase 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,198,466...148,203,062
Ensembl chr 5:148,198,439...148,203,092
|
|
G |
Micos10 |
mitochondrial contact site and cristae organizing system subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485
|
|
G |
Mrto4 |
MRT4 homolog, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287
|
|
G |
Mul1 |
mitochondrial E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863
|
|
G |
Myom3 |
myomesin 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274
|
|
G |
Nbl1 |
NBL1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719
|
|
G |
Otud3 |
OTU deubiquitinase 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560
|
|
G |
Pink1 |
PTEN induced kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
|
|
G |
Pithd1 |
PITH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,205,995...148,216,490
Ensembl chr 5:148,205,998...148,217,080
|
|
G |
Pla2g2a |
phospholipase A2 group IIA |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
|
|
G |
Pla2g2c |
phospholipase A2, group IIC |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377
|
|
G |
Pla2g2d |
phospholipase A2, group IID |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525
|
|
G |
Pla2g2e |
phospholipase A2, group IIE |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821
|
|
G |
Pla2g2f |
phospholipase A2, group IIF |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175
|
|
G |
Pla2g5 |
phospholipase A2, group V |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658
|
|
G |
Pnrc2 |
proline-rich nuclear receptor coactivator 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,103,966...148,106,950
Ensembl chr 5:148,095,699...148,107,242 Ensembl chr 5:148,095,699...148,107,242
|
|
G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
|
|
G |
Rnf186 |
ring finger protein 186 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716
|
|
G |
Rpl11 |
ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
|
|
G |
Sh2d5 |
SH2 domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955
|
|
G |
Slc66a1 |
solute carrier family 66 member 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259
|
|
G |
Srsf10 |
serine and arginine rich splicing factor 10 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768
|
|
G |
Stpg1 |
sperm-tail PG-rich repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788
|
|
G |
Tcea3 |
transcription elongation factor A3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,476,941...148,509,452
Ensembl chr 5:148,476,941...148,509,448
|
|
G |
Tex46 |
testis expressed 46 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,849,307...148,853,742
Ensembl chr 5:148,849,307...148,853,742
|
|
G |
Tmco4 |
transmembrane and coiled-coil domains 4 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723
|
|
G |
Ubr4 |
ubiquitin protein ligase E3 component n-recognin 4 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
|
|
G |
Ubxn10 |
UBX domain protein 10 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744
|
|
G |
Usp48 |
ubiquitin specific peptidase 48 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
|
|
G |
Vwa5b1 |
von Willebrand factor A domain containing 5B1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518
|
|
G |
Wnt4 |
Wnt family member 4 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
|
|
G |
Zbtb40 |
zinc finger and BTB domain containing 40 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415
|
|
G |
Zfp46 |
zinc finger protein 46 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:148,519,398...148,529,903
Ensembl chr 5:148,520,855...148,529,459
|
|
|
G |
Abcc5 |
ATP binding cassette subfamily C member 5 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
|
|
G |
Abcf3 |
ATP binding cassette subfamily F member 3 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211
|
|
G |
Alg3 |
ALG3, alpha-1,3- mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
|
|
G |
Ap2m1 |
adaptor related protein complex 2 subunit mu 1 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140
|
|
G |
B3gnt5 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166
|
|
G |
Camk2n2 |
calcium/calmodulin-dependent protein kinase II inhibitor 2 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,289,702...80,290,829
|
|
G |
Clcn2 |
chloride voltage-gated channel 2 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
|
|
G |
Dvl3 |
dishevelled segment polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
|
|
G |
Ece2 |
endothelin-converting enzyme 2 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,259,130...80,278,446
Ensembl chr11:80,263,162...80,278,428
|
|
G |
Eif2b5 |
eukaryotic translation initiation factor 2B subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
|
|
G |
Eif4g1 |
eukaryotic translation initiation factor 4 gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941
|
|
G |
Fam131a |
family with sequence similarity 131, member A |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511
|
|
G |
Klhl24 |
kelch-like family member 24 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636
|
|
G |
Klhl6 |
kelch-like family member 6 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677
|
|
G |
Lamp3 |
lysosomal-associated membrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784
|
|
G |
Map6d1 |
MAP6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377
|
|
G |
Mccc1 |
methylcrotonyl-CoA carboxylase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25190158 PMID:25356967 PMID:25382614 PMID:25640679 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 PMID:29111448 PMID:30626930 PMID:30838026 PMID:30887117 PMID:30904546 PMID:31730530 PMID:31737040 PMID:31901042 PMID:32746448 PMID:35281663 PMID:35664874 PMID:36787440 PMID:36822454 More...
|
|
NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
|
|
G |
Mir1224 |
microRNA 1224 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986
|
|
G |
Parl |
presenilin associated, rhomboid-like |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
|
|
G |
Polr2h |
RNA polymerase II, I and III subunit H |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515 Ensembl chr10:80,192,032...80,197,515
|
|
G |
Psmd2 |
proteasome 26S subunit ubiquitin receptor, non-ATPase 2 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043
|
|
G |
Thpo |
thrombopoietin |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
Ensembl chr11:80,182,820...80,188,167
|
|
G |
Vwa5b2 |
von Willebrand factor A domain containing 5B2 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220
|
|
G |
Yeats2 |
YEATS domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 |
ClinVar |
PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 |
|
NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
|
|
|
G |
Bdp1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
|
ISO |
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119
|
|
G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17908719 PMID:17968484 PMID:19706617 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:22658692 PMID:24516753 PMID:25356967 PMID:25381946 PMID:25382614 PMID:25640679 PMID:25741868 PMID:26566957 PMID:26589311 PMID:26764160 PMID:27033733 PMID:27601257 PMID:27959697 PMID:28018443 PMID:28492532 PMID:29247206 PMID:29767664 PMID:30510438 PMID:30626930 PMID:31130284 PMID:31730530 PMID:31847883 PMID:31901042 PMID:32778825 PMID:33423264 PMID:34440436 PMID:34899149 PMID:35281663 PMID:36822454 More...
|
|
NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
|
|
|
G |
Mccc1 |
methylcrotonyl-CoA carboxylase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25190158 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 PMID:29111448 PMID:30626930 PMID:30904546 PMID:31730530 PMID:31901042 PMID:32746448 PMID:35281663 PMID:35664874 PMID:36787440 PMID:36822454 More...
|
|
NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
|
|
G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:9536098 PMID:11181649 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17908719 PMID:17968484 PMID:19706617 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25356967 PMID:25381946 PMID:25382614 PMID:25741868 PMID:26566957 PMID:26764160 PMID:27033733 PMID:27601257 PMID:27959697 PMID:28492532 PMID:29247206 PMID:30510438 PMID:30626930 PMID:31130284 PMID:31730530 PMID:31847883 PMID:32778825 PMID:34440436 PMID:34899149 PMID:35281663 PMID:36822454 More...
|
|
NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
|
|
|
G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
|
|
|
G |
Auh |
AU RNA binding methylglutaconyl-CoA hydratase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
OMIM CTD ClinVar |
PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 PMID:12434311 PMID:12655555 PMID:15033206 PMID:16199547 PMID:16354225 PMID:16640564 PMID:17130438 PMID:17576681 PMID:20855850 PMID:20882351 PMID:21840233 PMID:24598254 PMID:25741868 PMID:28438368 PMID:28492532 PMID:32778825 More...
|
|
NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896
|
|
G |
Nfil3 |
nuclear factor, interleukin 3 regulated |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:12,280,499...12,295,728
Ensembl chr17:12,280,484...12,295,858
|
|
G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
|
|
|
G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
|
NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
|
|
G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
|
ISO ISS |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM:258501 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:31119193 PMID:32855858 PMID:32883240 More...
|
|
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
|
|
|
G |
Ccdc39 |
coiled-coil domain 39 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
|
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
|
|
G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V |
OMIM CTD ClinVar |
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28492532 PMID:29625556 PMID:34008892 More...
|
|
NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
|
|
G |
Fxr1 |
FMR1 autosomal homolog 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
|
NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
|
|
|
G |
Clpb |
ClpB family mitochondrial disaggregase |
|
ISO |
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 |
|
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
|
|
|
G |
Anapc15 |
anaphase promoting complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
|
|
G |
Arap1 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184
|
|
G |
Arhgef17 |
Rho guanine nucleotide exchange factor 17 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498
|
|
G |
Arrb1 |
arrestin, beta 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
|
|
G |
Atg16l2 |
autophagy related 16-like 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420
|
|
G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
|
|
G |
Chrdl2 |
chordin-like 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640
|
|
G |
Clpb |
ClpB family mitochondrial disaggregase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32219827 PMID:32313153 PMID:32573439 PMID:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
|
|
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
|
|
G |
Coa4 |
cytochrome c oxidase assembly factor 4 homolog |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174
|
|
G |
Dhcr7 |
7-dehydrocholesterol reductase |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
|
|
G |
Dnajb13 |
DnaJ heat shock protein family (Hsp40) member B13 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
|
|
G |
Fam168a |
family with sequence similarity 168, member A |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
|
|
G |
Fchsd2 |
FCH and double SH3 domains 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
|
|
G |
Folr1 |
folate receptor alpha |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
|
|
G |
Folr2 |
folate receptor beta |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
|
|
G |
Gdpd5 |
glycerophosphodiester phosphodiesterase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446
|
|
G |
Il18bp |
interleukin 18 binding protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
|
|
G |
Inppl1 |
inositol polyphosphate phosphatase-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
|
|
G |
Kcne3 |
potassium voltage-gated channel subfamily E regulatory subunit 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
|
|
G |
Klhl35 |
kelch-like family member 35 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557
|
|
G |
Krtap5-8 |
keratin associated protein 5-8 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
|
|
G |
Lamtor1 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
|
|
G |
Lipt2 |
lipoyl(octanoyl) transferase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
|
|
G |
Lrtomt |
leucine rich transmembrane and O-methyltransferase domain containing |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
|
|
G |
Mir139 |
microRNA 139 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
|
|
G |
Mir326 |
microRNA 326 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
|
|
G |
Mrpl48 |
mitochondrial ribosomal protein L48 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281
|
|
G |
Nadsyn1 |
NAD synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
|
|
G |
Neu3 |
neuraminidase 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
|
|
G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
|
|
G |
Olr35 |
olfactory receptor 35 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257
|
|
G |
P2ry2 |
purinergic receptor P2Y2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
|
|
G |
P2ry6 |
pyrimidinergic receptor P2Y6 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808
|
|
G |
P4ha3 |
prolyl 4-hydroxylase subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
|
|
G |
Pde2a |
phosphodiesterase 2A |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
|
|
G |
Pgm2l1 |
phosphoglucomutase 2-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
|
|
G |
Phox2a |
paired-like homeobox 2a |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
|
|
G |
Plekhb1 |
pleckstrin homology domain containing B1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
|
|
G |
Pold3 |
DNA polymerase delta 3, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665
|
|
G |
Ppme1 |
protein phosphatase methylesterase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110
|
|
G |
Rab6a |
RAB6A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715
|
|
G |
Relt |
RELT, TNF receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
|
|
G |
Rnf121 |
ring finger protein 121 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826
|
|
G |
Rnf169 |
ring finger protein 169 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653
|
|
G |
Rps3 |
ribosomal protein S3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
|
|
G |
Serpinh1 |
serpin family H member 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
|
|
G |
Slco2b1 |
solute carrier organic anion transporter family, member 2b1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353
|
|
G |
Snord15a |
small nucleolar RNA, C/D box 15A |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935
|
|
G |
Spcs2 |
signal peptidase complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186
|
|
G |
Stard10 |
StAR-related lipid transfer domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094
|
|
G |
Tpbgl |
trophoblast glycoprotein-like |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252
|
|
G |
Ucp2 |
uncoupling protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
|
|
G |
Ucp3 |
uncoupling protein 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
|
|
G |
Xrra1 |
X-ray radiation resistance associated 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895
|
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 PMID:27696117 PMID:28492532 More...
|
|
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
|
|
G |
Loxl3 |
lysyl oxidase-like 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:27208207 PMID:28492532 |
|
NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
|
|
|
G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 PMID:32369862 More...
|
|
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
|
|
|
G |
Clpb |
ClpB family mitochondrial disaggregase |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
|
|
|
G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
|
|
G |
Agpat4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345
|
|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
|
|
G |
Dynlt1 |
dynein light chain Tctex-type 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
|
|
G |
Ezr |
ezrin |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
|
|
G |
Fndc1 |
fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
|
|
G |
Gtf2h5 |
general transcription factor IIH subunit 5 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
|
|
G |
Map3k4 |
mitogen activated protein kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
|
|
G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
|
|
G |
Mrpl18 |
mitochondrial ribosomal protein L18 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987
|
|
G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
|
|
G |
Pnldc1 |
PARN like ribonuclease domain containing exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Rsph3 |
radial spoke head 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
|
|
G |
Serac1 |
serine active site containing 1 |
|
ISO ISS |
OMIM:614739 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 More...
|
|
NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
|
|
G |
Slc22a1 |
solute carrier family 22 member 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
|
|
G |
Slc22a2 |
solute carrier family 22 member 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
|
|
G |
Slc22a3 |
solute carrier family 22 member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Sytl3 |
synaptotagmin-like 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
|
|
G |
Tagap |
T-cell activation RhoGTPase activating protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
|
|
G |
Tcp1 |
t-complex 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839
|
|
G |
Tmem181 |
transmembrane protein 181 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
|
|
G |
Tulp4 |
TUB like protein 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
|
|
G |
Wtap |
WT1 associated protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065
|
|
|
G |
Oplah |
5-oxoprolinase (ATP-hydrolysing) |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 5-Oxoprolinase deficiency |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21651516 PMID:23430506 PMID:25741868 PMID:27477828 PMID:28492532 More...
|
|
NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
|
|
|
G |
Aco2 |
aconitase 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
|
|
G |
Adsl |
adenylosuccinate lyase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 PMID:8598641 PMID:9165520 PMID:9197470 PMID:9266401 PMID:9536098 PMID:9545543 PMID:10090474 PMID:10888601 PMID:10958654 PMID:12016589 PMID:12070256 PMID:12368987 PMID:12833398 PMID:15571235 PMID:15571240 PMID:16199547 PMID:16403972 PMID:16839792 PMID:17188615 PMID:17576681 PMID:18524658 PMID:18830228 PMID:19405474 PMID:20049533 PMID:20127976 PMID:20175147 PMID:20177786 PMID:20884265 PMID:20933180 PMID:21210713 PMID:22180458 PMID:22812634 PMID:23055421 PMID:23504561 PMID:23714113 PMID:23937257 PMID:24033266 PMID:24781210 PMID:25112391 PMID:25326635 PMID:25741868 PMID:25910213 PMID:26467025 PMID:27504266 PMID:28487569 PMID:28492532 PMID:28559277 PMID:29302074 PMID:29314763 PMID:29655203 PMID:30185235 PMID:30609409 PMID:31164858 PMID:31440721 PMID:31467849 PMID:31623504 PMID:32681428 PMID:33648541 More...
|
|
NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
|
|
G |
Ankrd54 |
ankyrin repeat domain 54 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,614,942...110,627,739
Ensembl chr 7:110,614,951...110,627,675
|
|
G |
Apobec3 |
apolipoprotein B mRNA editing enzyme catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,433,789...111,453,032
Ensembl chr 7:111,433,764...111,452,922
|
|
G |
Apol2 |
apolipoprotein L, 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,331,367...109,338,632
Ensembl chr 7:109,331,392...109,338,558
|
|
G |
Apol3-ps1 |
apolipoprotein L3, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,156,746...109,175,642
|
|
G |
Apol9a |
apolipoprotein L 9a |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,140,871...109,149,799
Ensembl chr 7:109,140,871...109,147,649
|
|
G |
Atf4 |
activating transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
|
|
G |
Baiap2l2 |
BAR/IMD domain containing adaptor protein 2 like 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,824,370...110,850,702
Ensembl chr 7:110,824,375...110,850,702
|
|
G |
C1qtnf6 |
C1q and TNF related 6 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
|
|
G |
C7h22orf23 |
similar to human chromosome 22 open reading frame 23 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:110,704,894...110,712,487
|
|
G |
Cacna1i |
calcium voltage-gated channel subunit alpha1 I |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
|
|
G |
Cacng2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227
|
|
G |
Card10 |
caspase recruitment domain family, member 10 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224
|
|
G |
Cbx6 |
chromobox 6 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091
|
|
G |
Cbx7 |
chromobox 7 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
|
|
G |
Cby1 |
chibby 1, beta catenin antagonist |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,216,835...111,223,305
|
|
G |
Ccdc134 |
coiled-coil domain containing 134 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
|
|
G |
Cdc42ep1 |
CDC42 effector protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,395,287...110,403,203
Ensembl chr 7:110,395,332...110,403,200
|
|
G |
Cenpm |
centromere protein M |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
|
|
G |
Chadl |
chondroadherin-like |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
|
|
G |
Cimip4 |
ciliary microtubule inner protein 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
|
|
G |
Csdc2 |
cold shock domain containing C2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
|
|
G |
Csf2rb |
colony stimulating factor 2 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
|
|
G |
Csnk1e |
casein kinase 1, epsilon |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
|
|
G |
Cyth4 |
cytohesin 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,152,232...110,176,726
Ensembl chr 7:110,152,272...110,176,741
|
|
G |
Ddx17 |
DEAD-box helicase 17 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,091,127...111,109,353
Ensembl chr 7:111,089,445...111,109,193
|
|
G |
Desi1 |
desumoylating isopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
|
|
G |
Dmc1 |
DNA meiotic recombinase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
|
|
G |
Dnajb7 |
DnaJ heat shock protein family (Hsp40) member B7 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,932,736...112,934,050
Ensembl chr 7:112,932,616...112,945,537
|
|
G |
Dnal4 |
dynein, axonemal, light chain 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,312,424...111,325,283
Ensembl chr 7:111,312,427...111,325,283
|
|
G |
Eif3d |
eukaryotic translation initiation factor 3, subunit D |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,539,795...109,552,184
Ensembl chr 7:109,539,356...109,552,206
|
|
G |
Eif3l |
eukaryotic translation initiation factor 3, subunit L |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,652,565...110,663,614
Ensembl chr 7:110,627,107...110,663,614
|
|
G |
Elfn2 |
extracellular leucine-rich repeat and fibronectin type III domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,220,293...110,272,770
Ensembl chr 7:110,225,919...110,272,433
|
|
G |
Enthd1 |
ENTH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,994,775...112,109,246
Ensembl chr 7:111,995,395...112,109,246
|
|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
|
|
G |
Fam227a |
family with sequence similarity 227, member A |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,174,362...111,216,513
Ensembl chr 7:111,174,362...111,216,483
|
|
G |
Fam83f |
family with sequence similarity 83, member F |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452
|
|
G |
Foxred2 |
FAD-dependent oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,521,761...109,538,300
Ensembl chr 7:109,521,761...109,540,874
|
|
G |
Galr3 |
galanin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685
|
|
G |
Gcat |
glycine C-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473
|
|
G |
Gga1 |
golgi associated, gamma adaptin ear containing, ARF binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,436,071...110,451,790
Ensembl chr 7:110,435,062...110,451,789
|
|
G |
Grap2 |
GRB2-related adaptor protein 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
|
|
G |
Gtpbp1 |
GTP binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,248,254...111,272,705
Ensembl chr 7:111,248,254...111,272,705
|
|
G |
H1f0 |
H1.0 linker histone |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
|
|
G |
Ift27 |
intraflagellar transport 27 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
|
|
G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
|
|
G |
Josd1 |
Josephin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,230,318...111,244,241
Ensembl chr 7:111,230,318...111,244,652
|
|
G |
Kcnj4 |
potassium inwardly-rectifying channel, subfamily J, member 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151
|
|
G |
Kctd17 |
potassium channel tetramerization domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927
|
|
G |
Kdelr3 |
KDEL endoplasmic reticulum protein retention receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,079,236...111,089,463
Ensembl chr 7:111,079,218...111,101,600
|
|
G |
L3mbtl2 |
L3MBTL histone methyl-lysine binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
|
|
G |
Lgals1 |
galectin 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
|
|
G |
Lgals2 |
galectin 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
|
|
G |
Maff |
MAF bZIP transcription factor F |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
|
|
G |
Mb |
myoglobin |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,759,903...108,767,134
Ensembl chr 7:108,759,904...108,767,383
|
|
G |
Mchr1 |
melanin-concentrating hormone receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032
|
|
G |
Mcm5 |
minichromosome maintenance complex component 5 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
|
|
G |
Mei1 |
meiotic double-stranded break formation protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
|
|
G |
Mfng |
MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,310,810...110,328,653
Ensembl chr 7:110,310,812...110,328,653
|
|
G |
Mgat3 |
beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,708,353...111,761,825
Ensembl chr 7:111,675,730...111,762,026
|
|
G |
Micall1 |
MICAL-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,676,706...110,707,171
Ensembl chr 7:110,676,775...110,707,177
|
|
G |
Mief1 |
mitochondrial elongation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220
|
|
G |
Mir33 |
microRNA 33 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
|
|
G |
Mpst |
mercaptopyruvate sulfurtransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141
|
|
G |
Mrtfa |
myocardin related transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
|
|
G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
|
|
G |
Ncf4 |
neutrophil cytosolic factor 4 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
|
|
G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
|
|
G |
Nol12 |
nucleolar protein 12 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907
|
|
G |
Nptxr |
neuronal pentraxin receptor |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,336,660...111,354,737
Ensembl chr 7:111,336,664...111,354,802
|
|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
|
|
G |
Pdxp |
pyridoxal phosphatase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963
|
|
G |
Pheta2 |
PH domain containing endocytic trafficking adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
|
|
G |
Phf5a |
PHD finger protein 5A |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
|
|
G |
Pick1 |
protein interacting with PRKCA 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,796,623...110,816,850
Ensembl chr 7:110,797,117...110,816,848
|
|
G |
Pla2g6 |
phospholipase A2 group VI |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
|
|
G |
Pmm1 |
phosphomannomutase 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
|
|
G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
|
|
G |
Polr3h |
RNA polymerase III subunit H |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
|
|
G |
Pvalb |
parvalbumin |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561
|
|
G |
Rac2 |
Rac family small GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
|
|
G |
Rangap1 |
RAN GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
|
|
G |
Rasd2 |
RASD family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr19:13,594,291...13,605,016
Ensembl chr19:13,594,291...13,605,016
|
|
G |
Rbfox2 |
RNA binding fox-1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
|
|
G |
Rbx1 |
ring-box 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
|
|
G |
Rpl3 |
ribosomal protein L3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,622,255...111,627,640
Ensembl chr 7:111,621,610...111,636,468
|
|
G |
Rps19bp1 |
ribosomal protein S19 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,809,354...111,812,741
Ensembl chr 7:111,809,355...111,812,757
|
|
G |
Septin3 |
septin 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
|
|
G |
Sgsm3 |
small G protein signaling modulator 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,514,453...112,544,109
Ensembl chr 7:112,514,630...112,544,108
|
|
G |
Sh3bp1 |
SH3-domain binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,457,626...110,470,201
Ensembl chr 7:110,457,710...110,470,201
|
|
G |
Shisa8 |
shisa family member 8 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
|
|
G |
Slc16a8 |
solute carrier family 16 member 8 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069
|
|
G |
Slc25a17 |
solute carrier family 25 member 17 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,844,375...112,887,014
Ensembl chr 7:112,844,375...112,925,945
|
|
G |
Smdt1 |
single-pass membrane protein with aspartate-rich tail 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226
|
|
G |
Snord43l1 |
small nucleolar RNA, C/D box 43 like 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,627,136...111,627,199
Ensembl chr 7:111,627,136...111,627,199
|
|
G |
Snord83b |
small nucleolar RNA, C/D box 83B |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,622,885...111,622,978
Ensembl chr 7:111,622,885...111,622,978
|
|
G |
Snu13 |
small nuclear ribonucleoprotein 13 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872 Ensembl chr 1:113,565,295...113,570,872
|
|
G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
|
|
G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
|
|
G |
Sstr3 |
somatostatin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769
|
|
G |
St13 |
ST13, Hsp70 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,891,007...112,925,727
Ensembl chr 7:112,844,375...112,925,945
|
|
G |
Sun2 |
Sad1 and UNC84 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,275,374...111,292,565
Ensembl chr 7:111,275,380...111,292,553
|
|
G |
Syngr1 |
synaptogyrin 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341
|
|
G |
Tab1 |
TGF-beta activated kinase 1/MAP3K7 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,675,829...111,707,058
Ensembl chr 7:111,686,371...111,707,058
|
|
G |
Tef |
TEF transcription factor, PAR bZIP family member |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
|
|
G |
Tmem184b |
transmembrane protein 184B |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943
|
|
G |
Tmprss6 |
transmembrane serine protease 6 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
|
|
G |
Tnfrsf13c |
TNF receptor superfamily member 13C |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
|
|
G |
Tnrc6b |
trinucleotide repeat containing adaptor 6B |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
|
|
G |
Tob2 |
transducer of ERBB2, 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
|
|
G |
Tomm22 |
translocase of outer mitochondrial membrane 22 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,223,508...111,228,671
Ensembl chr 7:111,216,571...111,246,799
|
|
G |
Triobp |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
|
|
G |
Tst |
thiosulfate sulfurtransferase |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
|
|
G |
Txn2 |
thioredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359
|
|
G |
Wbp2nl |
WBP2 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
|
|
G |
Xpnpep3 |
X-prolyl aminopeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
|
|
G |
Xrcc6 |
X-ray repair cross complementing 6 |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
|
|
G |
Zc3h7b |
zinc finger CCCH-type containing 7B |
|
ISO |
ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
|
|
|
G |
Slc25a13 |
solute carrier family 25 member 13 |
susceptibility |
ISO |
DNA:mutations: :multiple ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia CTD Direct Evidence: marker/mechanism DNA,protein:mutations,decreased expression:exons,liver:multiple |
ClinVar CTD OMIM RGD |
PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11432966 PMID:11793471 PMID:12409267 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16311094 PMID:16449956 PMID:17576681 PMID:17880783 PMID:17982687 PMID:18392553 PMID:18487280 PMID:18578996 PMID:19036621 PMID:19185551 PMID:19413723 PMID:19470249 PMID:20301360 PMID:20376801 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:21914561 PMID:21979481 PMID:22575253 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:23701493 PMID:23901231 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25110155 PMID:25216257 PMID:25365849 PMID:25381944 PMID:25640679 PMID:25741868 PMID:26852511 PMID:26858187 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:27706244 PMID:27779681 PMID:28492532 PMID:29376577 PMID:29651749 PMID:29659898 PMID:29787821 PMID:30098237 PMID:30703226 PMID:30887117 PMID:30904546 PMID:31180159 PMID:31450232 PMID:31607264 PMID:31845334 PMID:31980526 PMID:32962675 PMID:33497767 PMID:33627582 PMID:33763395 PMID:34006251 PMID:34045052 PMID:34295780 PMID:34704407 PMID:34800434 PMID:35142380 PMID:35798653 PMID:36599957 PMID:10369257 PMID:11153906 More...
|
RGD:1599241, RGD:1599242 |
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
|
|
|
G |
Afg2b |
AFG2 AAA ATPase homolog B |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
|
|
G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
|
|
G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
|
|
G |
C3h15orf48 |
similar to human chromosome 15 open reading frame 48 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
|
|
G |
Duox1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
|
|
G |
Duox2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
|
|
G |
Duoxa1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
|
|
G |
Duoxa2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
|
|
G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 PMID:17576681 PMID:20301745 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:26490222 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216 More...
|
|
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
|
|
G |
Patl2 |
PAT1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
|
|
G |
Shf |
Src homology 2 domain containing F |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
|
|
G |
Slc28a2 |
solute carrier family 28 member 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
|
|
G |
Slc30a4 |
solute carrier family 30 member 4 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
|
|
G |
Sord |
sorbitol dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
|
|
G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
|
|
G |
Terb2 |
telomere repeat binding bouquet formation protein 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
|
|
G |
Trim69 |
tripartite motif-containing 69 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
|
|
|
G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
|
NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II CTD Direct Evidence: marker/mechanism DNA:deletion:exon: |
OMIM ClinVar CTD RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:17525176 More...
|
RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
|
NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
|
|
|
G |
Dct |
dopachrome tautomerase |
|
ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:33100333 |
|
NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
|
|
G |
Gpr143 |
G protein-coupled receptor 143 |
|
ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8634705 PMID:11115845 PMID:11214907 PMID:26785811 PMID:28041643 PMID:28492532 PMID:32581362 More...
|
|
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
|
|
G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29600982 |
|
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28667292 PMID:28976636 PMID:29345414 PMID:32741191 More...
|
|
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
G |
Tyr |
tyrosinase |
treatment |
ISO IMP |
DNA:missense mutation:cds:p.H420R(mouse) ClinVar Annotator: match by term: Albinism |
ClinVar RGD |
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:7955413 PMID:8434585 PMID:9158138 PMID:9163730 PMID:10766867 PMID:10987646 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:16517127 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:33223529 PMID:34008892 PMID:35803923 PMID:2567165 PMID:23409244 PMID:2112453 More...
|
RGD:8694353, RGD:12792973, RGD:8694355 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
G |
Tyrem1Kyo |
tyrosinase; TALEN induced mutant1, Kyo |
|
IMP |
|
RGD |
PMID:23409244 |
RGD:12792973 |
|
|
G |
Tyrp1 |
tyrosinase-related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 PMID:28492532 More...
|
|
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
|
|
|
G |
Abtb1 |
ankyrin repeat and BTB domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
|
|
G |
Acad11 |
acyl-CoA dehydrogenase family, member 11 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
|
|
G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
|
|
G |
Ackr4 |
atypical chemokine receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
|
|
G |
Acp3 |
acid phosphatase 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
|
|
G |
Adcy5 |
adenylate cyclase 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
|
|
G |
Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
|
|
G |
Aste1 |
asteroid homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
|
|
G |
Atp2c1 |
ATPase secretory pathway Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
|
|
G |
Bfsp2 |
beaded filament structural protein 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
|
|
G |
C4h3orf22 |
similar to human chromosome 3 open reading frame 22 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
|
|
G |
Casr |
calcium-sensing receptor |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
|
|
G |
Ccdc14 |
coiled-coil domain containing 14 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
|
|
G |
Cd86 |
CD86 molecule |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
|
|
G |
Cdv3 |
carnitine deficiency-associated gene expressed in ventricle 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
|
|
G |
Cfap100 |
cilia and flagella associated protein 100 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
|
|
G |
Cfap92 |
cilia and flagella associated protein 92 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
|
|
G |
Chchd6 |
coiled-coil-helix-coiled-coil-helix domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
|
|
G |
Chst13 |
carbohydrate sulfotransferase 13 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019
|
|
G |
Cnbp |
CCHC-type zinc finger, nucleic acid binding protein |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
|
|
G |
Col6a5 |
collagen type VI alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
|
|
G |
Col6a6 |
collagen type VI alpha 6 chain |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
|
|
G |
Copg1 |
COPI coat complex subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
|
|
G |
Cpne4 |
copine 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
|
|
G |
Csta |
cystatin A |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
|
|
G |
Dnajb8 |
DnaJ heat shock protein family (Hsp40) member B8 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
|
|
G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
|
|
G |
Dtx3l |
deltex E3 ubiquitin ligase 3L |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
|
|
G |
Eaf2 |
ELL associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
|
|
G |
Eefsec |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
|
|
G |
Efcab12 |
EF-hand calcium binding domain 12 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
|
|
G |
Efcc1 |
EF-hand and coiled-coil domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
|
|
G |
Fam162a |
family with sequence similarity 162, member A |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
|
|
G |
Fbxo40 |
F-box protein 40 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
|
|
G |
Gata2 |
GATA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
|
|
G |
Golgb1 |
golgin B1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
|
|
G |
Gp9 |
glycoprotein IX (platelet) |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
|
|
G |
Gtf2e1 |
general transcription factor IIE subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
|
|
G |
H1f10 |
H1.10 linker histone |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448
|
|
G |
H1f8 |
H1.8 linker histone |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
|
|
G |
Hacd2 |
3-hydroxyacyl-CoA dehydratase 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
|
|
G |
Hcls1 |
hematopoietic cell specific Lyn substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
|
|
G |
Heg1 |
heart development protein with EGF-like domains 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
|
|
G |
Hgd |
homogentisate 1, 2-dioxygenase |
|
ISO ISS |
ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura OMIM:203500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 PMID:9529363 PMID:9536098 PMID:9630082 PMID:9674916 PMID:10205262 PMID:10340975 PMID:10482952 PMID:10594001 PMID:10819641 PMID:10970188 PMID:11001939 PMID:11017803 PMID:12051967 PMID:12114497 PMID:12501223 PMID:12872815 PMID:12872836 PMID:14978662 PMID:16085442 PMID:16199547 PMID:17576681 PMID:18945288 PMID:19096913 PMID:19306858 PMID:19862842 PMID:20301627 PMID:20462779 PMID:21437689 PMID:21720873 PMID:21822197 PMID:23092576 PMID:23353776 PMID:23430897 PMID:23519186 PMID:24575791 PMID:25153563 PMID:25233259 PMID:25525159 PMID:25681086 PMID:25741868 PMID:25804398 PMID:26960557 PMID:27026014 PMID:28492532 PMID:30737480 PMID:31927521 PMID:32212000 PMID:33621656 PMID:33746036 PMID:34008892 PMID:34504318 PMID:34686677 PMID:35550814 PMID:36253209 PMID:8782815 More...
|
RGD:1599472 |
NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
|
|
G |
Hmces |
5-hydroxymethylcytosine binding, ES cell specific |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
|
|
G |
Hspbap1 |
HSPB1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
|
|
G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
|
|
G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
|
|
G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
|
|
G |
Isy1 |
ISY1 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
|
|
G |
Itgb5 |
integrin subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
|
|
G |
Kalrn |
kalirin, RhoGEF kinase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
|
|
G |
Kbtbd12 |
kelch repeat and BTB domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
|
|
G |
Klf15 |
KLF transcription factor 15 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
|
|
G |
Kpna1 |
karyopherin subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
|
|
G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
|
|
G |
Mcm2 |
minichromosome maintenance complex component 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
|
|
G |
Mgll |
monoglyceride lipase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
|
|
G |
Mix23 |
mitochondrial matrix import factor 23 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
|
|
G |
Mrpl3 |
mitochondrial ribosomal protein L3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
|
|
G |
Muc13 |
mucin 13, cell surface associated |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
|
|
G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
|
|
G |
Nek11 |
NIMA-related kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
|
|
G |
Nphp3 |
nephrocystin 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
|
|
G |
Nudt16 |
nudix hydrolase 16 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
|
|
G |
Osbpl11 |
oxysterol binding protein-like 11 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
|
|
G |
Parp14 |
poly (ADP-ribose) polymerase family, member 14 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
|
|
G |
Parp9 |
poly (ADP-ribose) polymerase family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
|
|
G |
Pdia5 |
protein disulfide isomerase family A, member 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
|
|
G |
Pik3r4 |
phosphoinositide-3-kinase, regulatory subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
|
|
G |
Plxna1 |
plexin A1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
|
|
G |
Plxnd1 |
plexin D1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
|
|
G |
Podxl2 |
podocalyxin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
|
|
G |
Polq |
DNA polymerase theta |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
|
|
G |
Rab43 |
RAB43, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174
|
|
G |
Rab7a |
RAB7A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
|
|
G |
Rabl3 |
RAB, member of RAS oncogene family-like 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
|
|
G |
Ropn1 |
rhophilin associated tail protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
|
|
G |
Rpn1 |
ribophorin I |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
|
|
G |
Ruvbl1 |
RuvB-like AAA ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
|
|
G |
Sec22a |
SEC22 homolog A, vesicle trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
|
|
G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
|
|
G |
Sema5b |
semaphorin 5B |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
|
|
G |
Slc12a8 |
solute carrier family 12, member 8 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
|
|
G |
Slc15a2 |
solute carrier family 15 member 2 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
|
|
G |
Slc41a3 |
solute carrier family 41, member 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
|
|
G |
Slc49a4 |
solute carrier family 49 member 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
|
|
G |
Snx4 |
sorting nexin 4 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
|
|
G |
Stxbp5l |
syntaxin binding protein 5L |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
|
|
G |
Tf |
transferrin |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
|
|
G |
Tmcc1 |
transmembrane and coiled-coil domain family 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
|
|
G |
Tmem108 |
transmembrane protein 108 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
|
|
G |
Topbp1 |
DNA topoisomerase II binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
|
|
G |
Tpra1 |
transmembrane protein adipocyte associated 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
|
|
G |
Trh |
thyrotropin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
|
|
G |
Txnrd3 |
thioredoxin reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
|
|
G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
|
|
G |
Umps |
uridine monophosphate synthetase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
|
|
G |
Uroc1 |
urocanate hydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
|
|
G |
Wdr5b |
WD repeat domain 5B |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
|
|
G |
Zfp148 |
zinc finger protein 148 |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
|
|
G |
Zxdc |
ZXD family zinc finger C |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuria |
ClinVar |
PMID:12501223 PMID:19862842 PMID:28492532 |
|
NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
|
|
|
G |
Hgd |
homogentisate 1, 2-dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Alkaptonuric ochronosis |
ClinVar |
PMID:9529363 PMID:10205262 PMID:10340975 PMID:10482952 PMID:10594001 PMID:12501223 PMID:16199547 PMID:19096913 PMID:19862842 PMID:20301627 PMID:23430897 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
|
|
|
G |
Actb |
actin, beta |
|
ISO |
ClinVar Annotator: match by term: Aminoacylase 1 deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
|
|
G |
Acy1 |
aminoacylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aminoacylase 1 deficiency |
OMIM CTD ClinVar |
PMID:16274666 PMID:16465618 PMID:17562838 PMID:20480396 PMID:21414403 PMID:24117009 PMID:24997716 PMID:25741868 PMID:26686503 PMID:28492532 PMID:29653693 PMID:31980526 More...
|
|
NCBI chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682
|
|
G |
Zfp335 |
zinc finger protein 335 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme |
ClinVar |
|
|
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
|
|
|
G |
Asl |
argininosuccinate lyase |
|
ISO ISS |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria OMIM:207900 protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 PMID:9256435 PMID:9536098 PMID:9686346 PMID:10896281 PMID:11698398 PMID:11747432 PMID:11747433 PMID:12384776 PMID:12408190 PMID:15164414 PMID:15273245 PMID:16199547 PMID:16435180 PMID:16941645 PMID:17326097 PMID:17551924 PMID:17576681 PMID:18042262 PMID:18616627 PMID:19224584 PMID:19703900 PMID:20236848 PMID:20298553 PMID:21290785 PMID:21667091 PMID:21710918 PMID:21744316 PMID:22081021 PMID:22231378 PMID:22541557 PMID:23430928 PMID:24033266 PMID:24136197 PMID:24166829 PMID:24516753 PMID:24927999 PMID:25087612 PMID:25433810 PMID:25525159 PMID:25741868 PMID:25778938 PMID:26589311 PMID:26661037 PMID:26745957 PMID:26843370 PMID:27515243 PMID:27604308 PMID:28251416 PMID:28492532 PMID:28600779 PMID:29326055 PMID:29493581 PMID:29773863 PMID:30285816 PMID:31030429 PMID:31056765 PMID:31130284 PMID:31156699 PMID:31183366 PMID:31426867 PMID:31515792 PMID:31589614 PMID:31709144 PMID:31737040 PMID:31943503 PMID:31980526 PMID:31990680 PMID:32410394 PMID:32778825 PMID:33373331 PMID:33514801 PMID:33611823 PMID:33851512 PMID:34374989 PMID:34405919 PMID:12408190 PMID:3440446 More...
|
RGD:1302509, RGD:13628399 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
|
|
G |
Crcp |
CGRP receptor component |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,623,968...26,659,756
Ensembl chr12:26,623,976...26,768,225
|
|
G |
Gusb |
glucuronidase, beta |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinic Aciduria |
ClinVar |
PMID:19224584 PMID:28492532 |
|
NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
|
|
G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
|
|
G |
Rabgef1 |
RAB guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,459,190...26,503,790
Ensembl chr12:26,460,175...26,503,744
|
|
G |
Sbds |
Sbds, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
|
|
G |
Tmem248 |
transmembrane protein 248 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105
|
|
G |
Tpst1 |
tyrosylprotein sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,544,536...26,605,706
Ensembl chr12:26,544,536...26,605,704
|
|
|
G |
Ddc |
dopa decarboxylase |
|
ISO ISS |
ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase OMIM:608643 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1357595 PMID:9536098 PMID:9789536 PMID:14991824 PMID:15079002 PMID:16199547 PMID:16783378 PMID:17240182 PMID:17533144 PMID:17576681 PMID:18567514 PMID:20301718 PMID:20505134 PMID:21541720 PMID:22143761 PMID:23321058 PMID:23430870 PMID:24037885 PMID:24788355 PMID:24865461 PMID:25001633 PMID:25597765 PMID:25741868 PMID:25956449 PMID:26994895 PMID:27147232 PMID:27243974 PMID:28492532 PMID:28556607 PMID:28856607 PMID:28924877 PMID:28973165 PMID:29356298 PMID:29851841 PMID:30144970 PMID:30260058 PMID:30952622 PMID:31104889 PMID:31130284 PMID:31607746 PMID:31703131 PMID:31849064 PMID:31918669 PMID:31953134 PMID:31975548 PMID:32111562 PMID:32369189 PMID:32409695 PMID:33734312 PMID:33808712 PMID:33996177 PMID:34763085 PMID:35531120 PMID:36427457 More...
|
|
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
|
|
|
G |
Asns |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29302074 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:31130284 PMID:32255274 PMID:32741967 PMID:32906196 PMID:33258288 PMID:33287870 PMID:34490615 PMID:34582790 PMID:34906502 PMID:35469797 PMID:36344539 PMID:36374791 More...
|
|
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
|
|
|
G |
Car2 |
carbonic anhydrase 2 |
|
ISO ISS |
OMIM:259730 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis |
OMIM MouseDO CTD ClinVar |
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:15300855 PMID:18060825 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
|
|
|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
|
|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
|
|
G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
|
|
G |
Clic2 |
chloride intracellular channel 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
|
|
G |
Cmc4 |
C-X9-C motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
|
|
G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
|
|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 More...
|
|
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
|
|
G |
Dusp9 |
dual specificity phosphatase 9 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
|
|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
|
|
G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
|
|
G |
F8a1 |
coagulation factor VIII-associated 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
|
|
G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
|
|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
|
|
G |
Fkbp1a |
FKBP prolyl isomerase 1A |
|
ISS |
OMIM:302060 |
MouseDO |
|
|
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
|
|
G |
Fundc2 |
FUN14 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15315792 PMID:15996881 PMID:16427346 PMID:16528451 PMID:16601897 PMID:16684786 PMID:18046504 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22293322 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:26471271 PMID:27535533 PMID:27880809 PMID:28492532 PMID:28583873 PMID:29300386 PMID:29334594 PMID:30097005 PMID:31609781 PMID:33069889 More...
|
|
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
|
|
G |
H2ab3 |
H2A.B variant histone 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
|
|
G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
|
|
G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
|
|
G |
Mest |
mesoderm specific transcript |
|
ISS |
OMIM:302060 |
MouseDO |
|
|
NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
|
|
G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
|
|
G |
Mtcp1 |
mature T-cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:126,189...130,123
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
|
|
G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
|
|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
|
|
G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
|
|
G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
|
|
G |
Pnma3 |
PNMA family member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
|
|
G |
Pnma5 |
PNMA family member 5 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
|
|
G |
Pnma6e |
PNMA family member 6E |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
|
|
G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
|
|
G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
|
|
G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO ISS |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM:302060 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345058 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11735032 PMID:11748843 PMID:11896212 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:16906470 PMID:17241629 PMID:17394203 PMID:17576681 PMID:17846786 PMID:18430085 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:21932011 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23345479 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:26895103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:29476731 PMID:30122738 PMID:30471092 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 PMID:31647997 PMID:31737537 PMID:32619718 PMID:33500567 PMID:34906502 PMID:35104856 More...
|
|
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
|
|
G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
|
|
G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
|
|
G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
|
|
G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
|
|
G |
Zfp185 |
zinc finger protein 185 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
|
|
G |
Zfp92 |
ZFP92 zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
|
|
|
G |
Agxt2 |
alanine-glyoxylate aminotransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of |
ClinVar OMIM |
PMID:21572414 |
|
NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
|
G |
Hibch |
3-hydroxyisobutyryl-CoA hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency |
OMIM CTD ClinVar |
PMID:7122152 PMID:9536098 PMID:16199547 PMID:17160907 PMID:17576681 PMID:24033266 PMID:24299452 PMID:25251209 PMID:25591832 PMID:25741868 PMID:26026795 PMID:26163321 PMID:27435318 PMID:27896122 PMID:28454995 PMID:28492532 PMID:29703962 PMID:30111474 PMID:32022391 PMID:32677093 PMID:33762937 More...
|
|
NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
|
G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 PMID:7173255 PMID:7728148 PMID:7728155 PMID:7749408 PMID:7907600 PMID:8103405 PMID:9090533 PMID:9536098 PMID:9700610 PMID:9744475 PMID:11161836 PMID:11161837 PMID:11914035 PMID:12754704 PMID:14518824 PMID:15128923 PMID:15877211 PMID:16199547 PMID:17236799 PMID:17576681 PMID:18511318 PMID:19763152 PMID:20046049 PMID:20156697 PMID:20157782 PMID:20307669 PMID:20488739 PMID:21669895 PMID:22406018 PMID:23430882 PMID:23958592 PMID:24516753 PMID:24517888 PMID:25559898 PMID:25640679 PMID:25741868 PMID:27264805 PMID:27748876 PMID:27928777 PMID:28220263 PMID:28255778 PMID:28361105 PMID:28393214 PMID:28492532 PMID:28689740 PMID:28726122 PMID:28875337 PMID:29402417 PMID:29624230 PMID:30393371 PMID:30835345 PMID:31156707 PMID:31268215 PMID:32778825 PMID:33708533 PMID:34001203 PMID:34298581 More...
|
|
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
|
|
G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:25741868 PMID:31268215 |
|
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
|
|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
|
|
G |
Exph5 |
exophilin 5 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
|
|
G |
Npat |
nuclear protein, co-activator of histone transcription |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
|
|
G |
Poglut3 |
protein O-glucosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
|
|
|
G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
|
|
G |
Bco2 |
beta-carotene oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
|
|
G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
|
|
G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
Cfap68 |
cilia and flagella associated protein 68 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
|
|
G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
|
|
G |
Dixdc1 |
DIX domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
|
|
G |
Dlat |
dihydrolipoamide S-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
|
|
G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
|
|
G |
Gch1 |
GTP cyclohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:25741868 |
|
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
|
|
G |
Hoatz |
HOATZ cilia and flagella associated protein |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
|
|
G |
Hspb2 |
heat shock protein family B (small) member 2 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
Il18 |
interleukin 18 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
|
|
G |
Layn |
layilin |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
|
|
G |
Mir34b |
microRNA 34b |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
|
G |
Mir34c |
microRNA 34c |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
|
|
G |
Nkapd1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
|
|
G |
Pah |
phenylalanine hydroxylase |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency |
ClinVar |
PMID:7833954 PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 PMID:9012412 PMID:9298832 PMID:9399896 PMID:9429153 PMID:9634518 PMID:10234516 PMID:10394930 PMID:10598814 PMID:10693064 PMID:10980574 PMID:11161839 PMID:11244681 PMID:11385716 PMID:11708866 PMID:12501224 PMID:12655553 PMID:14722928 PMID:15464430 PMID:16051511 PMID:16198137 PMID:16290003 PMID:17096675 PMID:17502162 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:21147011 PMID:21307867 PMID:21953985 PMID:22698810 PMID:22917871 PMID:23357515 PMID:23430918 PMID:23500595 PMID:23690520 PMID:23792259 PMID:23842451 PMID:23932990 PMID:23942198 PMID:24350308 PMID:24368688 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26503515 PMID:26542770 PMID:26600521 PMID:26666653 PMID:26982749 PMID:27121329 PMID:27243974 PMID:27469133 PMID:27578510 PMID:27620137 PMID:28492532 PMID:28982351 PMID:29288420 PMID:29499199 PMID:29997390 PMID:30037505 PMID:30050108 PMID:30311390 PMID:30459323 PMID:30648773 PMID:31355225 PMID:31623983 PMID:32668217 PMID:32906206 PMID:33465300 PMID:33677757 PMID:33803550 PMID:35281663 More...
|
|
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
|
|
G |
Pih1d2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
|
|
G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
|
|
G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
|
|
G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
|
|
G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
|
ISO ISS |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency OMIM:261640 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 PMID:8707300 PMID:8841415 PMID:9159737 PMID:9222757 PMID:9450907 PMID:9536098 PMID:10089284 PMID:10220141 PMID:10319579 PMID:10585341 PMID:10874306 PMID:11388593 PMID:11438997 PMID:11694255 PMID:11916314 PMID:16199547 PMID:16601879 PMID:16850690 PMID:16917893 PMID:17001642 PMID:17160954 PMID:17576681 PMID:18060820 PMID:18505119 PMID:19280650 PMID:19350512 PMID:19823873 PMID:19830588 PMID:20059486 PMID:21542064 PMID:21933604 PMID:22237589 PMID:23138986 PMID:23942198 PMID:25087612 PMID:25304915 PMID:25418970 PMID:25456745 PMID:25525159 PMID:25741868 PMID:25758715 PMID:26830550 PMID:27243974 PMID:27246466 PMID:27629047 PMID:28057123 PMID:28378820 PMID:28492532 PMID:28915855 PMID:29499199 PMID:29577258 PMID:29685341 PMID:30001213 PMID:30109838 PMID:30626930 PMID:30853107 PMID:30926181 PMID:31332730 PMID:32651154 PMID:32905092 PMID:33234470 PMID:33822819 PMID:34597372 PMID:35140743 PMID:36313470 More...
|
|
NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
|
|
G |
Qdpr |
quinoid dihydropteridine reductase |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:25741868 |
|
NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
|
|
G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
|
|
G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
|
|
G |
Tex12 |
testis expressed 12 |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 PMID:31332730 PMID:32651154 PMID:33234470 PMID:33822819 More...
|
|
NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217
|
|
G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
|
|
|
G |
Gch1 |
GTP cyclohydrolase 1 |
|
ISO ISS |
ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B OMIM:233910 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 PMID:9667588 PMID:9886460 PMID:10496263 PMID:10582612 PMID:12391354 PMID:12707079 PMID:12874420 PMID:15133828 PMID:15303002 PMID:15389992 PMID:15753436 PMID:15852365 PMID:17044972 PMID:17101830 PMID:17576681 PMID:17898029 PMID:18044725 PMID:19234759 PMID:19332422 PMID:19491146 PMID:20842687 PMID:22373569 PMID:23430498 PMID:23942198 PMID:24033266 PMID:24509643 PMID:24993959 PMID:25125585 PMID:25150291 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27246466 PMID:27313105 PMID:28397219 PMID:28492532 PMID:28958832 PMID:29471552 PMID:29948246 PMID:30314816 PMID:30894892 PMID:30911941 PMID:31213404 PMID:33713342 PMID:34054692 PMID:35083481 More...
|
|
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
|
|
|
G |
Qdpr |
quinoid dihydropteridine reductase |
|
ISO |
ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1283784 PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 PMID:9341885 PMID:9536098 PMID:9744478 PMID:10408783 PMID:11153907 PMID:11694255 PMID:16199547 PMID:17188538 PMID:17576681 PMID:19099731 PMID:21890392 PMID:23138986 PMID:24033266 PMID:25124972 PMID:25155776 PMID:25741868 PMID:26006720 PMID:26589311 PMID:27243974 PMID:27246466 PMID:28492532 PMID:29499199 PMID:30109838 PMID:30221392 PMID:32905092 PMID:33822819 PMID:33903016 PMID:33977029 PMID:34214291 PMID:34485013 PMID:34997870 PMID:36382472 More...
|
|
NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
|
|
|
G |
Pcbd1 |
pterin-4 alpha-carbinolamine dehydratase 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:958615 PMID:8352282 PMID:8618906 PMID:9585615 PMID:9760199 PMID:24133926 PMID:24204001 PMID:24848070 PMID:25333069 PMID:25741868 PMID:27246466 PMID:28492532 PMID:36313470 More...
|
|
NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292 Ensembl chr20:28,953,864...29,044,292
|
|
|
G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: Biotin deficiency |
ClinVar |
PMID:88555 PMID:9099842 PMID:9158148 PMID:11668630 PMID:12359137 PMID:15060693 PMID:17185019 PMID:19757147 PMID:20301497 PMID:22698809 PMID:22975760 PMID:24033266 PMID:25144890 PMID:25174816 PMID:25741868 PMID:25795614 PMID:25967232 PMID:26467025 PMID:26810761 PMID:27207447 PMID:27329734 PMID:27657684 PMID:28492532 PMID:28498829 PMID:29359854 PMID:29728376 PMID:30551056 PMID:34136440 PMID:35195902 More...
|
|
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
|
|
|
G |
Btd |
biotinidase |
|
ISO ISS |
ClinVar Annotator: match by term: Biotinidase deficiency | ClinVar Annotator: match by term: Late-onset biotin-responsive multiple carboxylase deficiency OMIM:253260 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:88555 PMID:1668630 PMID:7509806 PMID:7550325 PMID:9099842 PMID:9158148 PMID:9232193 PMID:9375914 PMID:9396567 PMID:9506660 PMID:9536098 PMID:9654207 PMID:9705240 PMID:10206677 PMID:10394193 PMID:10400129 PMID:10655158 PMID:10801053 PMID:10801060 PMID:11313766 PMID:11380987 PMID:11668630 PMID:11865279 PMID:12227467 PMID:12359137 PMID:12618081 PMID:14628140 PMID:14707518 PMID:15059618 PMID:15060693 PMID:15776412 PMID:16199547 PMID:16435182 PMID:17185019 PMID:17382128 PMID:17576681 PMID:18645204 PMID:18845537 PMID:19728141 PMID:19757147 PMID:20083419 PMID:20224900 PMID:20301497 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:21752405 PMID:21907891 PMID:22011816 PMID:22106832 PMID:22698809 PMID:22863189 PMID:22975760 PMID:22995991 PMID:23644139 PMID:23971085 PMID:24033266 PMID:24066991 PMID:24123366 PMID:24516753 PMID:24525934 PMID:24797656 PMID:24932929 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25333069 PMID:25423671 PMID:25741868 PMID:25754625 PMID:25795614 PMID:25967232 PMID:25972378 PMID:26117549 PMID:26203071 PMID:26334177 PMID:26361991 PMID:26467025 PMID:26589311 PMID:26635394 PMID:26656798 PMID:26810761 PMID:26990548 PMID:27207447 PMID:27329734 PMID:27378695 PMID:27533158 PMID:27535533 PMID:27625817 PMID:27629047 PMID:27657684 PMID:27760515 PMID:27845546 PMID:28220409 PMID:28281033 PMID:28492532 PMID:28498829 PMID:28649532 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:31618753 PMID:31801038 PMID:31973013 PMID:31980526 PMID:32300527 PMID:33016994 PMID:33123633 PMID:33189081 PMID:33217065 PMID:33223529 PMID:33312878 PMID:34136440 PMID:34166817 PMID:34374989 PMID:34448386 PMID:35195902 PMID:35627187 PMID:36684547 More...
|
|
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
|
|
G |
Colq |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: Biotinidase deficiency |
ClinVar |
PMID:20083419 PMID:28492532 |
|
NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
|
|
G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: Biotinidase deficiency |
ClinVar |
PMID:20083419 PMID:28492532 |
|
NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
|
|
G |
Mlkl |
mixed lineage kinase domain like pseudokinase |
|
ISO |
ClinVar Annotator: match by term: Biotinidase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
|
|
|
G |
Armc5 |
armadillo repeat containing 5 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
|
|
G |
Bckdk |
branched chain ketoacid dehydrogenase kinase |
|
ISO ISS IAGP |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency OMIM:614923 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:G369E (rat) |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 PMID:28492532 PMID:36729635 PMID:27472223 More...
|
RGD:39131293 |
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
|
|
G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
|
|
G |
Cfap119 |
cilia and flagella associated protein 119 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338
|
|
G |
Cox6a2 |
cytochrome c oxidase subunit 6A2 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
|
|
G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
|
|
G |
Fbrs |
fibrosin |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
|
|
G |
Fbxl19 |
F-box and leucine-rich repeat protein 19 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
|
|
G |
Fus |
Fus RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
|
|
G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
|
|
G |
Itgad |
integrin subunit alpha D |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,759,762...182,788,422
Ensembl chr 1:182,759,740...182,788,161
|
|
G |
Itgam |
integrin subunit alpha M |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
|
|
G |
Itgax |
integrin subunit alpha X |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698
|
|
G |
Kat8 |
lysine acetyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
|
|
G |
Orai3 |
ORAI calcium release-activated calcium modulator 3 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,381,196...182,386,055
Ensembl chr 1:182,344,293...182,386,052
|
|
G |
Phkg2 |
phosphorylase kinase catalytic subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
|
|
G |
Prr14 |
proline rich 14 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,083,838...182,089,330
Ensembl chr 1:182,084,126...182,089,317
|
|
G |
Prss36 |
serine protease 36 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,543,085...182,561,141
Ensembl chr 1:182,543,085...182,559,280
|
|
G |
Prss53 |
serine protease 53 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,494,944...182,501,607
Ensembl chr 1:182,494,955...182,500,115
|
|
G |
Prss8 |
serine protease 8 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
|
|
G |
Pycard |
PYD and CARD domain containing |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
|
|
G |
Rnf40 |
ring finger protein 40 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241
|
|
G |
Rusf1 |
RUS family member 1 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732
|
|
G |
Setd1a |
SET domain containing 1A, histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
|
|
G |
Slc5a2 |
solute carrier family 5 member 2 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306
|
|
G |
Srcap |
Snf2-related CREBBP activator protein |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
|
|
G |
Stx1b |
syntaxin 1B |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280
|
|
G |
Stx4 |
syntaxin 4 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979
|
|
G |
Tgfb1i1 |
transforming growth factor beta 1 induced transcript 1 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,828,553...182,835,465
Ensembl chr 1:182,828,544...182,837,080
|
|
G |
Trim72 |
tripartite motif containing 72 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,613,753...182,621,613
Ensembl chr 1:182,613,712...182,621,606
|
|
G |
Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
|
|
G |
Zfp629 |
zinc finger protein 629 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,217,499...182,258,585
Ensembl chr 1:182,210,935...182,230,016
|
|
G |
Zfp646 |
zinc finger protein 646 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,485,009...182,494,961
Ensembl chr 1:182,485,949...182,494,731
|
|
G |
Zfp668 |
zinc finger protein 668 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
|
|
G |
Zfp688 |
zinc finger protein 688 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,039,366...182,043,035
Ensembl chr 1:182,039,931...182,043,103
|
|
G |
Zfp689 |
zinc finger protein 689 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,065,885...182,074,343
Ensembl chr 1:182,065,826...182,076,679
|
|
G |
Zfp764l1 |
zinc finger protein 764 like 1 |
|
ISO |
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:182,003,282...182,005,886
Ensembl chr 1:182,003,282...182,005,886
|
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
DNA:deletion:exon:699_859del (human) ClinVar Annotator: match by term: Brown oculocutaneous albinism |
ClinVar RGD |
PMID:7920637 PMID:11179026 PMID:17767372 PMID:11179026 |
RGD:9491819 |
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
|
G |
Maoa |
monoamine oxidase A |
|
ISO ISS |
OMIM:300615 ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 PMID:20340138 PMID:22382802 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 PMID:30452590 More...
|
|
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
|
|
G |
Maob |
monoamine oxidase B |
|
ISO |
ClinVar Annotator: match by term: Brunner syndrome |
ClinVar |
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
|
|
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
|
|
G |
Ndp |
norrin cystine knot growth factor NDP |
|
ISO |
ClinVar Annotator: match by term: Brunner syndrome |
ClinVar |
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
|
|
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
|
|
|
G |
Cps1 |
carbamoyl-phosphate synthase 1 |
susceptibility |
ISO ISS |
CPS I deficiency, OMIM:237300, DNA:splice-site mutation ClinVar Annotator: match by term: Congenital hyperammonemia, type I CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11474210 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17357079 PMID:17576681 PMID:18414213 PMID:18666241 PMID:19167850 PMID:19309799 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:20855223 PMID:21068339 PMID:21108709 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22494545 PMID:22575620 PMID:23649895 PMID:24813853 PMID:24880889 PMID:25640679 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28007335 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:29888426 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32280145 PMID:32537019 PMID:32670798 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33309754 PMID:33489762 PMID:33551825 PMID:33611823 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:8486760 More...
|
RGD:1600715 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
|
|
|
G |
Cpn1 |
carboxypeptidase N subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency |
OMIM CTD ClinVar |
PMID:7437116 PMID:12560874 PMID:24033266 |
|
NCBI chr 1:242,844,575...242,873,465
Ensembl chr 1:242,844,212...242,873,465
|
|
|
G |
Abca7 |
ATP binding cassette subfamily A member 7 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
|
|
G |
Adamtsl5 |
ADAMTS-like 5 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285
|
|
G |
Apc2 |
APC regulator of WNT signaling pathway 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
|
|
G |
Arhgap45 |
Rho GTPase activating protein 45 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
|
|
G |
Arid3a |
AT-rich interaction domain 3A |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
|
|
G |
Atp5f1d |
ATP synthase F1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
|
|
G |
C7h19orf25 |
similar to human chromosome 19 open reading frame 25 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,390,255...9,392,383
|
|
G |
Cbarp |
CACN subunit beta associated regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
|
|
G |
Cfd |
complement factor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
|
|
G |
Cirbp |
cold inducible RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
|
|
G |
Cnn2 |
calponin 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656
|
|
G |
Dazap1 |
DAZ associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
|
|
G |
Efna2 |
ephrin A2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
|
|
G |
Elane |
elastase, neutrophil expressed |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
|
|
G |
Fam174c |
family with sequence similarity 174 member C |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,531,995...9,533,705
|
|
G |
Fgf22 |
fibroblast growth factor 22 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
|
|
G |
Fstl3 |
follistatin like 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,923,574...9,929,223
Ensembl chr 7:9,923,576...9,939,639
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:27848944 PMID:28055022 PMID:28438604 PMID:28492532 PMID:28600779 PMID:29506905 PMID:29655203 PMID:31130284 PMID:31222513 PMID:32214227 PMID:34389248 More...
|
|
NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
|
|
G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:25741868 PMID:29654216 |
|
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
|
|
G |
Gpx4 |
glutathione peroxidase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
|
|
G |
Grin3b |
glutamate ionotropic receptor NMDA type subunit 3B |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
|
|
G |
Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
|
|
G |
Kiss1r |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
|
|
G |
Mbd3 |
methyl-CpG binding domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
|
|
G |
Med16 |
mediator complex subunit 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
|
|
G |
Mex3d |
mex-3 RNA binding family member D |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
|
|
G |
Midn |
midnolin |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
|
|
G |
Misp |
mitotic spindle positioning |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
|
|
G |
Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:11978605 PMID:12468279 PMID:15108290 PMID:20301745 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
|
|
G |
Palm |
paralemmin |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
|
|
G |
Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
|
|
G |
Plk5 |
polo-like kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196
|
|
G |
Plppr3 |
phospholipid phosphatase related 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
|
|
G |
Polr2e |
RNA polymerase II, I and III subunit E |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
|
|
G |
Polrmt |
RNA polymerase mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
|
|
G |
Prss57 |
serine protease 57 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
|
|
G |
Prtn3 |
proteinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
|
|
G |
Ptbp1 |
polypyrimidine tract binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
|
|
G |
Pwwp3a |
PWWP domain containing 3A, DNA repair factor |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
|
|
G |
R3hdm4 |
R3H domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
|
|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
|
|
G |
Rnf126 |
ring finger protein 126 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
|
|
G |
Rps15 |
ribosomal protein S15 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
|
|
G |
Sbno2 |
strawberry notch homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
|
|
G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
|
|
G |
Tmem259 |
transmembrane protein 259 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
|
|
G |
Uqcr11 |
ubiquinol-cytochrome c reductase, complex III subunit XI |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
|
|
G |
Wdr18 |
WD repeat domain 18 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
|
|
|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
|
|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
|
|
G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
|
|
G |
Clic2 |
chloride intracellular channel 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
|
|
G |
Cmc4 |
C-X9-C motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
|
|
G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
|
|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
|
|
G |
Dusp9 |
dual specificity phosphatase 9 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
|
|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
|
|
G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
|
|
G |
F8a1 |
coagulation factor VIII-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
|
|
G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
|
|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
|
|
G |
Fundc2 |
FUN14 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
|
|
G |
H2ab3 |
H2A.B variant histone 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
|
|
G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
|
|
G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
|
|
G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
|
|
G |
Mtcp1 |
mature T-cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr18:126,189...130,123
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
|
|
G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
|
|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
|
|
G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
|
|
G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
|
|
G |
Pnma3 |
PNMA family member 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
|
|
G |
Pnma5 |
PNMA family member 5 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
|
|
G |
Pnma6e |
PNMA family member 6E |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
|
|
G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
|
|
G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO ISS |
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency OMIM:300352 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11748843 PMID:11898126 PMID:11968085 PMID:12210795 PMID:12536364 PMID:12544242 PMID:12889669 PMID:15154114 PMID:15351775 PMID:15689435 PMID:15690373 PMID:15857409 PMID:16080119 PMID:16086185 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:16738945 PMID:17088400 PMID:17101918 PMID:17172942 PMID:17465020 PMID:17553121 PMID:17576681 PMID:18047645 PMID:18414213 PMID:18925426 PMID:19188083 PMID:19396829 PMID:19763152 PMID:19846429 PMID:20307669 PMID:20717164 PMID:20730588 PMID:21140503 PMID:21267006 PMID:21556832 PMID:21660517 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22382802 PMID:22406018 PMID:22578097 PMID:22644605 PMID:22659343 PMID:23220634 PMID:23234264 PMID:23408511 PMID:23409742 PMID:23644449 PMID:23660394 PMID:24190795 PMID:24365856 PMID:24962355 PMID:25326635 PMID:25590979 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:26471271 PMID:26930212 PMID:27408820 PMID:28065824 PMID:28492532 PMID:29334594 PMID:29429461 PMID:30885608 PMID:32207963 PMID:32434645 PMID:32860008 PMID:33624935 PMID:34395220 More...
|
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
|
|
G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
|
|
G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
|
|
G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
|
|
G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
|
|
G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
|
|
G |
Zfp185 |
zinc finger protein 185 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
|
|
G |
Zfp92 |
ZFP92 zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
|
|
|
G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 |
|
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
|
|
G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
|
|
G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
|
|
G |
Card14 |
caspase recruitment domain family, member 14 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22521419 PMID:23905699 PMID:24033266 PMID:24999592 PMID:25734815 PMID:25741868 PMID:25989471 PMID:26203641 PMID:26358359 PMID:27706581 PMID:28492532 PMID:28887889 PMID:30387497 PMID:30697821 PMID:31971603 PMID:36174714 PMID:36221432 More...
|
|
NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
|
|
G |
Cd27 |
CD27 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
|
|
G |
Elane |
elastase, neutrophil expressed |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 PMID:25703294 PMID:25741868 PMID:27854218 PMID:28492532 PMID:35047849 More...
|
|
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
|
|
G |
Gng4 |
G protein subunit gamma 4 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 PMID:22032624 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:28236224 PMID:28492532 More...
|
|
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
|
|
G |
Il36rn |
interleukin 36 receptor antagonist |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 PMID:22903787 PMID:23303454 PMID:23428889 PMID:23648549 PMID:23698098 PMID:23792462 PMID:23863864 PMID:24033266 PMID:24979538 PMID:25212972 PMID:25427108 PMID:25458002 PMID:25468355 PMID:25741868 PMID:25989471 PMID:26147717 PMID:26589685 PMID:26676204 PMID:27220475 PMID:27388993 PMID:27542682 PMID:27900482 PMID:28063630 PMID:28492532 PMID:28887889 PMID:29030861 PMID:30036598 PMID:30609409 PMID:32301172 More...
|
|
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
|
|
G |
Itk |
IL2-inducible T-cell kinase |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 |
|
NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
|
|
G |
Lpin2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:24033266 PMID:25741868 PMID:26386126 PMID:26639818 PMID:27860302 PMID:28492532 PMID:33670882 More...
|
|
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
|
|
G |
Lyst |
lysosomal trafficking regulator |
|
IAGP ISO ISS |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition OMIM:214500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:19650863 PMID:19763152 PMID:20301751 PMID:20307669 PMID:21878672 PMID:22406018 PMID:22883044 PMID:23436631 PMID:23521865 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25312756 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26684649 PMID:26915675 PMID:27484032 PMID:27577878 PMID:27669550 PMID:27679996 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:28748566 PMID:29482223 PMID:29519750 PMID:29652989 PMID:30383631 PMID:30815890 PMID:30819905 PMID:30899265 PMID:31245861 PMID:31664448 PMID:31906877 PMID:32099069 PMID:32531373 PMID:32542393 PMID:32638196 PMID:33179747 PMID:33217554 PMID:34083498 PMID:36203604 PMID:10384041 More...
|
RGD:633300 |
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
|
|
G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 PMID:9668175 PMID:9715731 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10611954 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10787450 PMID:10842288 PMID:10852276 PMID:10854105 PMID:10854115 PMID:10879615 PMID:10905662 PMID:10980540 PMID:11017802 PMID:11175300 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11470495 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12124996 PMID:12180071 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14578333 PMID:14612366 PMID:14679589 PMID:14727057 PMID:15018633 PMID:15020340 PMID:15024140 PMID:15024744 PMID:15146467 PMID:15168590 PMID:15458961 PMID:15475974 PMID:15502081 PMID:15643295 PMID:15717684 PMID:15720244 PMID:15745878 PMID:15805719 PMID:15942916 PMID:15951859 PMID:16100353 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16403826 PMID:16439335 PMID:16439437 PMID:16498449 PMID:16523438 PMID:16614989 PMID:16627024 PMID:16730661 PMID:16785446 PMID:16802374 PMID:16889173 PMID:17276496 PMID:17329916 PMID:17331080 PMID:17489852 PMID:17566872 PMID:17665427 PMID:17665448 PMID:17934081 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18409191 PMID:18496034 PMID:18609258 PMID:18662100 PMID:18691160 PMID:19026119 PMID:19151977 PMID:19253030 PMID:19302049 PMID:19449169 PMID:19466506 PMID:19531756 PMID:19762364 PMID:19777236 PMID:19784369 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19877056 PMID:19929404 PMID:19934082 PMID:19934083 PMID:19934105 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20525738 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20688806 PMID:20721559 PMID:20828792 PMID:20890251 PMID:20981092 PMID:21153919 PMID:21228398 PMID:21246368 PMID:21290976 PMID:21358337 PMID:21413889 PMID:21520333 PMID:21562927 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21727933 PMID:21978701 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22190688 PMID:22207183 PMID:22261745 PMID:22337722 PMID:22451026 PMID:22467954 PMID:22505824 PMID:22532615 PMID:22566169 PMID:22580583 PMID:22614345 PMID:22661645 PMID:22722202 PMID:22810696 PMID:22903357 PMID:22906030 PMID:22934972 PMID:22975760 PMID:22995991 PMID:23006543 PMID:23010357 PMID:23031807 PMID:23038988 PMID:23070486 PMID:23137073 PMID:23155201 PMID:23164758 PMID:23166428 PMID:23206577 PMID:23217869 PMID:23291246 PMID:23302539 PMID:23325590 PMID:23334425 PMID:23400211 PMID:23437051 PMID:23463692 PMID:23505238 PMID:23505242 PMID:23524442 PMID:23588594 PMID:23592051 PMID:23633568 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23847694 PMID:23867542 PMID:23907647 PMID:23973724 PMID:23981758 PMID:24033266 PMID:24071932 PMID:24082139 PMID:24117178 PMID:24123366 PMID:24233262 PMID:24251727 PMID:24261781 PMID:24263150 PMID:24289199 PMID:24318677 PMID:24369413 PMID:24381109 PMID:24383976 PMID:24433404 PMID:24469716 PMID:24702757 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24965843 PMID:25006247 PMID:25073670 PMID:25088882 PMID:25203624 PMID:25261100 PMID:25286988 PMID:25393764 PMID:25615955 PMID:25626331 PMID:25648235 PMID:25671271 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25760918 PMID:25793047 PMID:25810876 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26005881 PMID:26027984 PMID:26028444 PMID:26078663 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26299986 PMID:26351556 PMID:26360812 PMID:26399837 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26554556 PMID:26585190 PMID:26620106 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:26933204 PMID:27030597 PMID:27100444 PMID:27333294 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27535533 PMID:27621632 PMID:27659338 PMID:27733942 PMID:27838405 PMID:27884173 PMID:27956278 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28211254 PMID:28302131 PMID:28386255 PMID:28421071 PMID:28483595 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28597968 PMID:28678379 PMID:28750028 PMID:28863210 PMID:28927886 PMID:28943464 PMID:29040788 PMID:29047407 PMID:29080837 PMID:29148036 PMID:29159471 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29363386 PMID:29379228 PMID:29526930 PMID:29543225 PMID:29599418 PMID:29735907 PMID:29756710 PMID:29808155 PMID:29927949 PMID:30171907 PMID:30235678 PMID:30355575 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30513227 PMID:30546872 PMID:30686512 PMID:30698071 PMID:30783801 PMID:30887796 PMID:30915208 PMID:30996171 PMID:31088470 PMID:31204589 PMID:31264586 PMID:31411330 PMID:31512232 PMID:31531243 PMID:31598713 PMID:31620089 PMID:31646357 PMID:31693653 PMID:31989427 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32398039 PMID:32401353 PMID:32447396 PMID:32461654 PMID:32716837 PMID:32741030 PMID:32818295 PMID:32824452 PMID:32853466 PMID:32909274 PMID:33079202 PMID:33223529 PMID:33331265 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33733382 PMID:33738724 PMID:33747591 PMID:34120219 PMID:34328662 PMID:34426522 PMID:34606655 PMID:34612144 PMID:34665572 PMID:34739572 PMID:34880353 PMID:34918114 PMID:35061158 PMID:35098403 PMID:35156637 PMID:35190906 PMID:35298548 PMID:35358658 PMID:35490273 PMID:35780723 More...
|
|
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
|
|
G |
Mmab |
metabolism of cobalamin associated B |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
|
|
G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:16234278 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:18839211 PMID:19011501 PMID:20194276 PMID:21228398 PMID:21425920 PMID:21630610 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23834120 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:24656624 PMID:25677409 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26409462 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27142780 PMID:27213830 PMID:27612399 PMID:28359055 PMID:28492532 PMID:28638818 PMID:29047407 PMID:29290516 PMID:30597534 PMID:31474985 PMID:32060250 PMID:32199921 PMID:32822427 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 More...
|
|
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
|
|
G |
Nlrc4 |
NLR family, CARD domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
|
|
G |
Nlrp12 |
NLR family, pyrin domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 PMID:29500522 PMID:30783801 PMID:30788684 PMID:30858956 PMID:31820221 PMID:34975878 More...
|
|
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
|
|
G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 PMID:15801036 PMID:16100350 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17576681 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20131270 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30311386 PMID:30407166 PMID:30772614 PMID:30808881 PMID:32082075 PMID:32199921 More...
|
|
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
|
|
G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12202985 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15967635 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:17301648 PMID:17489054 PMID:17576681 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18942754 PMID:19103559 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20047977 PMID:20230816 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22440928 PMID:22543157 PMID:22684479 PMID:22859352 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24597572 PMID:24803813 PMID:25093298 PMID:25209167 PMID:25365249 PMID:25416713 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26774591 PMID:27306066 PMID:27373512 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28658209 PMID:28750667 PMID:28814775 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29795570 PMID:29867916 PMID:30159790 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:31681265 PMID:32463623 PMID:32597225 PMID:32716958 More...
|
|
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
|
|
G |
Prf1 |
perforin 1 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20092789 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:29665027 PMID:31388699 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33225392 PMID:33658321 PMID:33746956 PMID:34938098 More...
|
|
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
|
|
G |
Psmb8 |
proteasome 20S subunit beta 8 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 |
|
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
|
|
G |
Pstpip1 |
proline-serine-threonine phosphatase-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 |
|
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
|
|
G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24678334 PMID:25071262 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:26880764 PMID:27016801 PMID:27781387 PMID:28353193 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30290665 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32853466 PMID:32856792 PMID:32888943 PMID:32965739 PMID:34329649 PMID:34573280 More...
|
|
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
|
|
G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
|
|
G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:22521419 PMID:23905699 PMID:24033266 PMID:25741868 PMID:26203641 PMID:27706581 PMID:28492532 PMID:30387497 PMID:30697821 PMID:31971603 PMID:36174714 PMID:36221432 More...
|
|
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
|
|
G |
Sh2d1a |
SH2 domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 PMID:28492532 PMID:31415280 More...
|
|
NCBI chr X:121,373,693...121,401,923
|
|
G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 PMID:25741868 PMID:26740551 PMID:28492532 PMID:28976792 PMID:29795570 PMID:34095032 More...
|
|
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
|
|
G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 PMID:28492532 PMID:30919572 PMID:32673614 PMID:33488593 PMID:36275728 More...
|
|
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
|
|
G |
Stx11 |
syntaxin 11 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24524345 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
|
|
G |
Stxbp2 |
syntaxin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22451424 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25741868 PMID:27577878 PMID:27781387 PMID:28492532 PMID:29665027 PMID:32256442 PMID:32542393 PMID:32935436 PMID:34050687 PMID:34249802 PMID:34330684 PMID:36588876 PMID:36706356 More...
|
|
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
|
|
G |
Tbce |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
|
|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 PMID:18512793 PMID:19917181 PMID:21029567 PMID:22311714 PMID:22801493 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24393624 PMID:25326637 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27264265 PMID:28492532 PMID:28814775 PMID:32380704 PMID:32831641 PMID:35753512 More...
|
|
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
|
|
G |
Unc13d |
unc-13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 PMID:16278825 PMID:16825436 PMID:17576681 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21370424 PMID:21600143 PMID:21674762 PMID:21755595 PMID:21881043 PMID:23180437 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24459464 PMID:24470399 PMID:24916509 PMID:25502423 PMID:25573973 PMID:25741868 PMID:26342526 PMID:28399723 PMID:28492532 PMID:28748566 PMID:29113160 PMID:29262924 PMID:29357941 PMID:29415165 PMID:29549174 PMID:30899265 PMID:32222431 PMID:32375849 PMID:32542393 PMID:32638196 PMID:33746956 PMID:34170459 PMID:34339548 PMID:34677667 PMID:36155879 More...
|
|
NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
|
|
G |
Xiap |
X-linked inhibitor of apoptosis |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 PMID:25741868 PMID:27537055 PMID:28492532 More...
|
|
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
|
|
|
G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
|
|
G |
Arsa |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
|
|
G |
Ass1 |
argininosuccinate synthase 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:3146925 PMID:4680976 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 PMID:9536098 PMID:10987146 PMID:11211875 PMID:11571557 PMID:11708871 PMID:11738042 PMID:11941481 PMID:12684898 PMID:12815590 PMID:14680976 PMID:15266621 PMID:15334737 PMID:15863597 PMID:16124451 PMID:16199547 PMID:16475226 PMID:17576681 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:19684305 PMID:20005624 PMID:20724589 PMID:20818742 PMID:21227727 PMID:21228398 PMID:21244552 PMID:21483992 PMID:22106832 PMID:22473243 PMID:22494545 PMID:22768672 PMID:23094117 PMID:23099195 PMID:23246278 PMID:23430935 PMID:23611581 PMID:23780642 PMID:24033266 PMID:24508627 PMID:24713661 PMID:24765495 PMID:24889030 PMID:25047749 PMID:25087612 PMID:25179242 PMID:25433810 PMID:25537548 PMID:25640679 PMID:25741868 PMID:26117549 PMID:26206375 PMID:27168972 PMID:27287393 PMID:27629047 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:30612563 PMID:30904546 PMID:31056765 PMID:31208364 PMID:31469252 PMID:31737040 PMID:31980526 PMID:32778825 PMID:33851512 PMID:35085585 PMID:7557970 More...
|
RGD:1599301 |
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
|
|
G |
Exosc2 |
exosome component 2 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
|
|
G |
Fubp3 |
far upstream element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540
|
|
G |
Prdm12 |
PR/SET domain 12 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
|
|
G |
Slc25a13 |
solute carrier family 25 member 13 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria |
ClinVar |
PMID:9536098 PMID:10369257 PMID:11153906 PMID:11343052 PMID:11793471 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16199547 PMID:16449956 PMID:17576681 PMID:18367750 PMID:18392553 PMID:19036621 PMID:19185551 PMID:20301360 PMID:20376801 PMID:20927635 PMID:21424115 PMID:23053473 PMID:23701493 PMID:24069319 PMID:25110155 PMID:25741868 PMID:26858187 PMID:27405544 PMID:27829683 PMID:28492532 PMID:29659898 PMID:31450232 PMID:31845334 PMID:34006251 PMID:36599957 More...
|
|
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
|
|
G |
Slc25a15 |
solute carrier family 25 member 15 |
|
ISO |
|
RGD |
PMID:10805333 PMID:10369256 |
RGD:1599240, RGD:1599239 |
NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
|
|
|
G |
Arg1 |
arginase 1 |
|
ISO |
protein:altered expression:liver |
RGD |
PMID:3369364 |
RGD:13628398 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
|
|
G |
Slc25a13 |
solute carrier family 25 member 13 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II |
ClinVar |
PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11432966 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18367750 PMID:18392553 PMID:19036621 PMID:19413723 PMID:19470249 PMID:20301360 PMID:20376801 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22575253 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:23901231 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25216257 PMID:25365849 PMID:25741868 PMID:26852511 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:27706244 PMID:27829683 PMID:28492532 PMID:29376577 PMID:29659898 PMID:29787821 PMID:30098237 PMID:30887117 PMID:30904546 PMID:31180159 PMID:31450232 PMID:32962675 PMID:33763395 PMID:34006251 PMID:34045052 PMID:34295780 PMID:34704407 PMID:34800434 PMID:35142380 PMID:35798653 PMID:36599957 More...
|
|
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
|
|
|
G |
Ass1 |
argininosuccinate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia type I |
OMIM ClinVar |
PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:3146925 PMID:4680976 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 PMID:9536098 PMID:10987146 PMID:11211875 PMID:11571557 PMID:11708871 PMID:11738042 PMID:11941481 PMID:12684898 PMID:12815590 PMID:14680976 PMID:15266621 PMID:15334737 PMID:15863597 PMID:16124451 PMID:16199547 PMID:16475226 PMID:17576681 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:19684305 PMID:20005624 PMID:20724589 PMID:20818742 PMID:21227727 PMID:21228398 PMID:21244552 PMID:21483992 PMID:22106832 PMID:22473243 PMID:22494545 PMID:22768672 PMID:23094117 PMID:23099195 PMID:23246278 PMID:23430935 PMID:23611581 PMID:23780642 PMID:24033266 PMID:24508627 PMID:24713661 PMID:24765495 PMID:24889030 PMID:25047749 PMID:25087612 PMID:25179242 PMID:25433810 PMID:25537548 PMID:25741868 PMID:26117549 PMID:26206375 PMID:27168972 PMID:27287393 PMID:27629047 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:30612563 PMID:30904546 PMID:31056765 PMID:31208364 PMID:31469252 PMID:31737040 PMID:32778825 PMID:32860008 PMID:33851512 More...
|
|
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
|
|
G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
ISO |
ClinVar Annotator: match by term: argininosuccinate synthetase deficiency |
ClinVar |
PMID:11941481 PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:18354102 PMID:19351729 PMID:19797716 PMID:19917273 PMID:20031607 PMID:20579540 PMID:23743349 PMID:24507774 PMID:25278291 PMID:25412415 PMID:25741868 PMID:26049403 PMID:26467025 PMID:27135400 PMID:27218270 PMID:27280970 PMID:27765764 PMID:28492532 PMID:28768753 PMID:28965616 PMID:29083407 PMID:29261184 PMID:29997226 PMID:33091218 More...
|
|
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
|
|
G |
Slc25a13 |
solute carrier family 25 member 13 |
|
ISO |
ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I |
ClinVar |
PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 PMID:23067347 PMID:24069319 PMID:24586645 PMID:25216257 PMID:25741868 PMID:27405544 PMID:28492532 PMID:30887117 PMID:31180159 PMID:31450232 PMID:34045052 PMID:34704407 PMID:34800434 PMID:35798653 PMID:36599957 More...
|
|
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
|
|
|
G |
Mitf |
melanocyte inducing transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
CTD OMIM ClinVar |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
|
|
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
|
|
|
G |
Slc25a1 |
solute carrier family 25 member 1 |
|
ISO |
ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria |
OMIM ClinVar |
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 PMID:29031613 PMID:29238895 More...
|
|
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
|
|
|
G |
Acsf3 |
acyl-CoA synthetase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 PMID:21841779 PMID:22421630 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29144512 PMID:29555771 PMID:29858964 PMID:30041674 PMID:30487145 PMID:30609409 PMID:30740739 PMID:31376476 PMID:31462756 PMID:31980526 PMID:32327331 PMID:32944792 PMID:33223529 PMID:33625768 PMID:33879512 PMID:34426522 PMID:34440436 PMID:34547244 PMID:34900860 More...
|
|
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
|
|
|
G |
Dld |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:21996136 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 PMID:31334547 PMID:31683770 PMID:33092611 PMID:33306821 PMID:34426522 PMID:34684524 More...
|
|
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
|
|
G |
Slc26a3 |
solute carrier family 26 member 3 |
|
ISO |
ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to |
ClinVar |
PMID:8968745 PMID:9934985 PMID:28492532 |
|
NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
|
|
|
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...
|
|
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
|
|
|
G |
Cenpf |
centromere protein F |
|
ISO |
ClinVar Annotator: match by term: Cystinuria |
ClinVar |
PMID:25741868 |
|
NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
|
|
G |
Cep89 |
centrosomal protein 89 |
|
ISO |
ClinVar Annotator: match by term: Cystinuria |
ClinVar |
PMID:21681106 |
|
NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
|
|
G |
Prepl |
prolyl endopeptidase-like |
|
ISO |
ClinVar Annotator: match by term: Cystinuria |
ClinVar |
PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11524703 PMID:11748844 PMID:12820697 PMID:14531788 PMID:15635077 PMID:16374432 PMID:18234729 PMID:19782624 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25109415 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662 PMID:30586318 PMID:30773290 PMID:32133030 PMID:33349102 PMID:37716586 More...
|
|
NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
|
|
G |
Slc3a1 |
solute carrier family 3 member 1 |
susceptibility |
ISO ISS |
DNA:missense mutations ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I OMIM:220100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 PMID:9083097 PMID:9186880 PMID:9536098 PMID:9648062 PMID:9719865 PMID:9768685 PMID:10464673 PMID:10620184 PMID:10737983 PMID:11260385 PMID:11524703 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12820697 PMID:14531788 PMID:14561219 PMID:14991253 PMID:15635077 PMID:15691362 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 PMID:17010017 PMID:17576681 PMID:17880288 PMID:18234729 PMID:18332091 PMID:18414213 PMID:18704508 PMID:18947684 PMID:19782624 PMID:20517292 PMID:21255007 PMID:21488254 PMID:21677404 PMID:22480232 PMID:22493502 PMID:22796000 PMID:23007880 PMID:23532419 PMID:24033266 PMID:24215330 PMID:24610330 PMID:25109415 PMID:25296721 PMID:25640679 PMID:25741868 PMID:25964309 PMID:26123750 PMID:26537754 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28893421 PMID:30146843 PMID:30586318 PMID:30773290 PMID:32133030 PMID:33262960 PMID:33349102 PMID:33532864 PMID:37716586 PMID:8054986 More...
|
RGD:1600015 |
NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
|
|
G |
Slc7a9 |
solute carrier family 7 member 9 |
|
ISO ISS |
DNA:missense mutations, nonsense mutations:cds:multiple (human) ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition OMIM:220100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12234930 PMID:12239244 PMID:12371955 PMID:12820697 PMID:15635077 PMID:15670723 PMID:16138908 PMID:16199547 PMID:16225397 PMID:16374432 PMID:16609684 PMID:16834950 PMID:16838140 PMID:17539912 PMID:17576681 PMID:18414213 PMID:18947684 PMID:19782624 PMID:21255007 PMID:21677404 PMID:21681106 PMID:22480232 PMID:23532419 PMID:24033266 PMID:25109415 PMID:25296721 PMID:25599739 PMID:25741868 PMID:25964309 PMID:26123750 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28812535 PMID:32133030 PMID:33262960 PMID:33349102 PMID:33377691 PMID:33532864 PMID:33964006 PMID:34805638 PMID:10471498 More...
|
RGD:737767 |
NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
|
|
|
G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
treatment |
ISO |
DNA:mutation:cds:p.R140Q(mouse) |
RGD |
PMID:27469509 |
RGD:13506812 |
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
|
|
|
G |
Agxt |
alanine--glyoxylate aminotransferase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
|
|
G |
Ankmy1 |
ankyrin repeat and MYND domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
|
|
G |
Ano7 |
anoctamin 7 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
|
|
G |
Aqp12a |
aquaporin 12A |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
|
|
G |
Asb1 |
ankyrin repeat and SOCS box-containing 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
|
|
G |
Atg4b |
autophagy related 4B, cysteine peptidase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
|
|
G |
Bok |
BCL2 family apoptosis regulator BOK |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
|
|
G |
Capn10 |
calpain 10 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
|
|
G |
Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
|
|
G |
Cops9 |
COP9 signalosome subunit 9 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
|
|
G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
OMIM ClinVar |
PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 PMID:16199547 PMID:16442322 PMID:17576681 PMID:18414213 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:22391998 PMID:24715439 PMID:25741868 PMID:26178471 PMID:28135719 PMID:28492532 PMID:30848064 PMID:30908763 PMID:31488895 PMID:33431826 More...
|
|
NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
|
|
G |
Dtymk |
deoxythymidylate kinase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
|
|
G |
Dusp28 |
dual specificity phosphatase 28 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,472,832...93,474,207
|
|
G |
Erfe |
erythroferrone |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
|
|
G |
Espnl |
espin-like |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292
|
|
G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
|
|
G |
Gal3st2 |
galactose-3-O-sulfotransferase 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,382,456...94,387,990
|
|
G |
Gjb1 |
gap junction protein, beta 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:8004109 PMID:9361298 PMID:10102421 PMID:10207904 PMID:10848620 PMID:11571214 PMID:21291455 PMID:25741868 PMID:27544631 PMID:28071741 PMID:28469099 PMID:28492532 PMID:31220874 PMID:31323543 PMID:31842800 PMID:32376792 PMID:33314704 More...
|
|
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
|
|
G |
Gpc1 |
glypican 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
|
|
G |
Gpr35 |
G protein-coupled receptor 35 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299
|
|
G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
|
|
G |
Hdlbp |
high density lipoprotein binding protein |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
|
|
G |
Hes6 |
hes family bHLH transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559
|
|
G |
Ilkap |
ILK associated serine/threonine phosphatase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
|
|
G |
Ing5 |
inhibitor of growth family, member 5 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220
|
|
G |
Kif1a |
kinesin family member 1A |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
|
|
G |
Klhl30 |
kelch-like family member 30 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730
|
|
G |
Lrrfip1 |
LRR binding FLII interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
|
|
G |
Mab21l4 |
mab-21 like 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
|
|
G |
Mlph |
melanophilin |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
|
|
G |
Mterf4 |
mitochondrial transcription termination factor 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
|
|
G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
|
|
G |
Neu4 |
neuraminidase 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
|
|
G |
Or6b2 |
olfactory receptor family 6 subfamily B member 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
|
|
G |
Otos |
otospiralin |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
|
|
G |
Pask |
PAS domain containing serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
|
|
G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
|
|
G |
Per2 |
period circadian regulator 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
|
|
G |
Ppp1r7 |
protein phosphatase 1, regulatory subunit 7 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850
|
|
G |
Prlh |
prolactin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
|
|
G |
Rab17 |
RAB17, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
|
|
G |
Ramp1 |
receptor activity modifying protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
|
|
G |
Rbm44 |
RNA binding motif protein 44 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
|
|
G |
Rnpepl1 |
arginyl aminopeptidase like 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
|
|
G |
Scly |
selenocysteine lyase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
|
|
G |
Septin2 |
septin 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
|
|
G |
Sned1 |
sushi, nidogen and EGF-like domains 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
|
|
G |
Stk25 |
serine/threonine kinase 25 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
|
|
G |
Thap4 |
THAP domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
|
|
G |
Traf3ip1 |
TRAF3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
|
|
G |
Twist2 |
twist family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
|
|
G |
Ube2f |
ubiquitin-conjugating enzyme E2F (putative) |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594
|
|
|
G |
Abhd2 |
abhydrolase domain containing 2, acylglycerol lipase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061
|
|
G |
Acan |
aggrecan |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
|
|
G |
Anpep |
alanyl aminopeptidase, membrane |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789
|
|
G |
Ap3s2 |
adaptor related protein complex 3 subunit sigma 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
|
|
G |
Arpin |
actin-related protein 2/3 complex inhibitor |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
|
|
G |
Blm |
BLM RecQ like helicase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
|
|
G |
Cib1 |
calcium and integrin binding 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
|
|
G |
Crtc3 |
CREB regulated transcription coactivator 3 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
G |
Fes |
FES proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
|
|
G |
Furin |
furin (paired basic amino acid cleaving enzyme) |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
|
|
G |
Gdpgp1 |
GDP-D-glucose phosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783
|
|
G |
Hapln3 |
hyaluronan and proteoglycan link protein 3 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177
|
|
G |
Hddc3 |
HD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:30975432 PMID:34641967 More...
|
|
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
|
|
G |
Iqgap1 |
IQ motif containing GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
|
|
G |
Kif7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
|
|
G |
Man2a2 |
mannosidase, alpha, class 2A, member 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
|
|
G |
Mesp1 |
mesoderm posterior bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
|
|
G |
Mesp2 |
mesoderm posterior bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
|
|
G |
Mfge8 |
milk fat globule EGF and factor V/VIII domain containing |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
|
|
G |
Mir9-3 |
microRNA 9-3 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,440,049...133,440,138
|
|
G |
Ngrn |
neugrin, neurite outgrowth associated |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339
|
|
G |
Pex11a |
peroxisomal biogenesis factor 11 alpha |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
|
|
G |
Plin1 |
perilipin 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G |
Prc1 |
protein regulator of cytokinesis 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
|
|
G |
Rccd1 |
RCC1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781
|
|
G |
Rhcg |
Rh family, C glycoprotein |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
|
|
G |
Sema4b |
semaphorin 4B |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775
|
|
G |
Ticrr |
TOPBP1-interacting checkpoint and replication regulator |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
|
|
G |
Unc45a |
unc-45 myosin chaperone A |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
|
|
G |
Wdr93 |
WD repeat domain 93 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630
|
|
G |
Zfp710 |
zinc finger protein 710 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601
|
|
|
G |
Slc1a1 |
solute carrier family 1 member 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Dicarboxylic aminoaciduria OMIM:222730 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD |
PMID:21123949 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
|
|
|
G |
Dmgdh |
dimethylglycine dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency |
OMIM CTD ClinVar |
PMID:10102904 PMID:10767172 PMID:11231903 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528
|
|
|
G |
Dph1 |
diphthamide biosynthesis 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair |
ClinVar |
PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 PMID:28492532 PMID:29362492 PMID:29410513 PMID:29565416 PMID:30877278 PMID:32595695 PMID:32732226 More...
|
|
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
|
|
G |
Dph2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: diphthamide-deficiency syndrome |
ClinVar |
PMID:25741868 PMID:27421267 PMID:32576952 |
|
NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
|
|
|
G |
Dph1 |
diphthamide biosynthesis 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25558065 PMID:25741868 PMID:30877278 PMID:33001864 |
|
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
|
|
|
G |
Dph2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 |
ClinVar OMIM |
PMID:25741868 PMID:27421267 PMID:32576952 |
|
NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
|
|
|
G |
Tdo2 |
tryptophan 2,3-dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Familial hypertryptophanemia |
ClinVar OMIM |
PMID:28285122 |
|
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
|
|
|
G |
Chml |
CHM like Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
|
|
NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
|
|
G |
Exo1 |
exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
|
|
NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
|
|
G |
Fh |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:10896297 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16199547 PMID:16206287 PMID:16237213 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16876016 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:19151755 PMID:19183174 PMID:19339519 PMID:19470762 PMID:19939761 PMID:19967458 PMID:20231875 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22127509 PMID:22382802 PMID:22595425 PMID:22677546 PMID:22703879 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24441663 PMID:24728327 PMID:25004247 PMID:25477250 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25913776 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26574848 PMID:26580448 PMID:26700204 PMID:26900816 PMID:27037871 PMID:27454940 PMID:27541980 PMID:28196407 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28592321 PMID:28747166 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29456767 PMID:29641532 PMID:29893455 PMID:29909963 PMID:30050099 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31444830 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32371905 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33125697 PMID:33166576 PMID:33167498 PMID:33362715 PMID:33397043 PMID:33439686 PMID:33604570 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34156580 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34643235 PMID:34654685 PMID:34750850 PMID:34994643 PMID:35441217 PMID:35626031 PMID:35821608 PMID:35993574 PMID:36315513 PMID:36773955 More...
|
|
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
|
|
G |
Kmo |
kynurenine 3-monooxygenase |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
|
|
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
|
|
G |
Opn3 |
opsin 3 |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
|
|
NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847
|
|
G |
Pld5 |
phospholipase D family, member 5 |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
|
|
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
|
|
G |
Wdr64 |
WD repeat domain 64 |
|
ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
|
|
NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
|
|
|
G |
Abat |
4-aminobutyrate aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6148708 PMID:9536098 PMID:10407778 PMID:15642443 PMID:16199547 PMID:17576681 PMID:20052547 PMID:25640679 PMID:25738457 PMID:25741868 PMID:26467025 PMID:27596361 PMID:27903293 PMID:28411234 PMID:28492532 PMID:29302074 PMID:30617166 PMID:31133775 More...
|
|
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
|
|
G |
Carhsp1 |
calcium regulated heat stable protein 1 |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:25738457 PMID:28492532 |
|
NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
|
|
G |
Hapstr1 |
HUWE1 associated protein modifying stress responses |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
|
|
G |
Pmm2 |
phosphomannomutase 2 |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:25738457 PMID:28492532 |
|
NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
|
|
G |
Tmem186 |
transmembrane protein 186 |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:25738457 PMID:28492532 |
|
NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
|
|
G |
Usp7 |
ubiquitin specific peptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency |
ClinVar |
PMID:25738457 PMID:28492532 |
|
NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
|
|
|
G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency |
OMIM CTD ClinVar |
PMID:25741868 |
|
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
|
|
|
G |
Gls |
glutaminase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
|
|
|
G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:10515893 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
|
|
|
G |
Glul |
glutamate-ammonia ligase |
|
ISO |
ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16267323 PMID:17576681 PMID:21353613 PMID:25741868 PMID:27775558 PMID:28492532 PMID:33150193 More...
|
|
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
|
|
|
G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
|
ISO |
|
RGD |
PMID:15840571 |
RGD:10047115 |
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
|
|
G |
Acp5 |
acid phosphatase 5, tartrate resistant |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
|
|
G |
Angptl8 |
angiopoietin-like 8 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
|
|
G |
Best2 |
bestrophin 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339
|
|
G |
C8h19orf38 |
similar to human chromosome 19 open reading frame 38 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
|
|
G |
Calr |
calreticulin |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
|
|
G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
|
|
G |
Ccdc159 |
coiled-coil domain containing 159 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562
|
|
G |
Cnn1 |
calponin 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098
|
|
G |
Dand5 |
DAN domain BMP antagonist family member 5 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
|
|
G |
Dhps |
deoxyhypusine synthase |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
|
|
G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
|
|
G |
Dnm2 |
dynamin 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
|
|
G |
Dock6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
|
|
G |
Ecsit |
ECSIT signaling integrator |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390
|
|
G |
Elavl3 |
ELAV like RNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641
|
|
G |
Elof1 |
elongation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579
|
|
G |
Epor |
erythropoietin receptor |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
|
|
G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
|
|
G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
|
|
G |
Gadd45gip1 |
GADD45G interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
|
|
G |
Gcdh |
glutaryl-CoA dehydrogenase |
|
ISO ISS |
ClinVar Annotator: match by term: Glutaric acidemia type I | ClinVar Annotator: match by term: Glutaric aciduria, type 1 OMIM:231670 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9536098 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 PMID:10371528 PMID:10384381 PMID:10649503 PMID:10699052 PMID:10759157 PMID:10960496 PMID:11015709 PMID:11024031 PMID:11058907 PMID:11073722 PMID:11174631 PMID:11508549 PMID:11825066 PMID:11854167 PMID:12199454 PMID:12210585 PMID:12473778 PMID:12872844 PMID:12948740 PMID:14691600 PMID:14707522 PMID:15248096 PMID:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16199547 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17576681 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18304851 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 PMID:19486177 PMID:19630565 PMID:20084589 PMID:20514322 PMID:20629163 PMID:20732827 PMID:20836999 PMID:20960650 PMID:20978942 PMID:21031586 PMID:21176883 PMID:21228398 PMID:21811973 PMID:21912879 PMID:22106832 PMID:22231382 PMID:22728054 PMID:23104440 PMID:23225040 PMID:23395213 PMID:23884036 PMID:24332224 PMID:24795062 PMID:24973495 PMID:25087612 PMID:25190159 PMID:25204480 PMID:25255367 PMID:25256449 PMID:25590979 PMID:25735478 PMID:25741868 PMID:25762492 PMID:25863083 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:26847429 PMID:27243974 PMID:27250579 PMID:27351573 PMID:27397597 PMID:27476540 PMID:27629047 PMID:27672653 PMID:27896087 PMID:28062662 PMID:28143689 PMID:28302372 PMID:28352331 PMID:28389991 PMID:28411331 PMID:28438223 PMID:28492532 PMID:28781846 PMID:28794906 PMID:28991257 PMID:29068549 PMID:29086383 PMID:29201125 PMID:29292490 PMID:29419857 PMID:29665094 PMID:30203563 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:30838298 PMID:31062211 PMID:31130284 PMID:31302874 PMID:31319225 PMID:31491587 PMID:31515781 PMID:31536184 PMID:31589614 PMID:31788423 PMID:31952437 PMID:32005694 PMID:32240488 PMID:32508882 PMID:32777384 PMID:32778825 PMID:32992790 PMID:33015233 PMID:33064266 PMID:33116287 PMID:33123633 PMID:33138774 PMID:33578440 PMID:33728242 PMID:34207159 PMID:34258142 PMID:34306040 PMID:34344405 PMID:34394177 PMID:34504725 PMID:35281663 PMID:35822093 PMID:36221165 PMID:37020324 PMID:28545977 More...
|
RGD:13515124 |
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
|
|
G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
|
|
G |
Hook2 |
hook microtubule-tethering protein 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
|
|
G |
Ier2 |
immediate early response 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
|
|
G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
|
|
G |
Kank2 |
KN motif and ankyrin repeat domains 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
|
|
G |
Klf1 |
KLF transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 PMID:11854167 PMID:16602100 PMID:17576681 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27250579 PMID:28492532 PMID:31536184 More...
|
|
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
|
|
G |
Ldlr |
low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
|
|
G |
LOC102546572 |
zinc finger protein 709-like |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717
|
|
G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
|
|
G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
|
|
G |
MAST1 |
microtubule associated serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
|
|
G |
Nacc1 |
nucleus accumbens associated 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
|
|
G |
Nfix |
nuclear factor I X |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
|
|
G |
Odad3 |
outer dynein arm docking complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
|
|
G |
Prdx2 |
peroxiredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
|
|
G |
Prkcsh |
PRKCSH beta subunit of glucosidase II |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
|
|
G |
Rab3d |
RAB3D, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185
|
|
G |
Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
|
|
G |
Ralgdsl3 |
ral guanine nucleotide dissociation stimulator like 3 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471
|
|
G |
Rnaseh2a |
ribonuclease H2, subunit A |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
|
|
G |
Rtbdn |
retbindin |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
|
|
G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
|
|
G |
Spc24 |
SPC24 component of NDC80 kinetochore complex |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310
|
|
G |
Swsap1 |
SWIM-type zinc finger 7 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211
|
|
G |
Syce2 |
synaptonemal complex central element protein 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:1951469 PMID:8900227 PMID:8900228 PMID:9536098 PMID:9600243 PMID:9711871 PMID:10371528 PMID:10699052 PMID:10960496 PMID:11058907 PMID:11073722 PMID:11854167 PMID:12948740 PMID:15248096 PMID:15505393 PMID:16602100 PMID:17188916 PMID:17478444 PMID:17576681 PMID:18683078 PMID:18926513 PMID:19486177 PMID:19630565 PMID:21031586 PMID:21176883 PMID:22728054 PMID:23104440 PMID:24973495 PMID:25256449 PMID:25735478 PMID:25741868 PMID:27250579 PMID:27672653 PMID:28302372 PMID:28438223 PMID:28492532 PMID:29201125 PMID:29665094 PMID:31536184 PMID:31952437 PMID:32005694 PMID:34258142 PMID:34344405 More...
|
|
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
|
|
G |
Timm29 |
translocase of inner mitochondrial membrane 29 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,145,264...20,148,233
|
|
G |
Tmed1 |
transmembrane p24 trafficking protein 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
|
|
G |
Tmem205 |
transmembrane protein 205 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828
|
|
G |
Tnpo2 |
transportin 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
|
|
G |
Trir |
telomerase RNA component interacting RNase |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
|
|
G |
Trmt1 |
tRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
|
|
G |
Wdr83 |
WD repeat domain 83 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
|
|
G |
Wdr83os |
WD repeat domain 83 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
|
|
G |
Yipf2 |
Yip1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
|
|
G |
Zfp653 |
zinc finger protein 653 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864
|
|
G |
Zfp709 |
zinc finger protein 709 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700
|
|
G |
Zfp791 |
zinc finger protein 791 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504
|
|
G |
Zfp799 |
zinc finger protein 799 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798
|
|
G |
Zfp866 |
zinc finger protein 866 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932
|
|
G |
Zfp867 |
zinc finger protein 867 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395
|
|
G |
Zfp873 |
zinc finger protein 873 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803 Ensembl chr 7:7,926,957...7,951,803
|
|
G |
Zfp878 |
zinc finger protein 878 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403
|
|
G |
Zfp951 |
zinc finger protein 951 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756
|
|
G |
ZNF69l |
zinc finger protein 69 like |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896
|
|
G |
Znf709l |
zinc finger protein 709 like |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246
|
|
|
G |
Sugct |
succinylCoA:glutarate-CoA transferase |
|
ISO ISS |
OMIM:231690 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency |
OMIM MouseDO CTD ClinVar |
PMID:1909402 PMID:12555941 PMID:18926513 PMID:20818383 PMID:23893049 PMID:25741868 PMID:28492532 PMID:31980526 More...
|
|
NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
|
|
|
G |
Gcdh |
glutaryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Glutaric acidemia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
|
|
G |
Syce2 |
synaptonemal complex central element protein 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric acidemia |
ClinVar |
PMID:25741868 |
|
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
|
|
|
G |
Etfa |
electron transfer flavoprotein subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Glutaric acidemia type 2A |
ClinVar |
PMID:9536098 PMID:16510302 PMID:17576681 PMID:18289905 PMID:23785301 PMID:25741868 PMID:28492532 PMID:29096039 PMID:31268564 More...
|
|
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
|
|
|
G |
Gss |
glutathione synthetase |
|
ISO |
DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple (human) |
CTD RGD |
PMID:9215686 PMID:8896573 |
RGD:1302516, RGD:1599324 |
NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
|
|
|
G |
Gss |
glutathione synthetase |
|
ISO |
ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5476481 PMID:8896573 PMID:9215686 PMID:11167850 PMID:15056072 PMID:15717202 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
|
|
|
G |
Gss |
glutathione synthetase |
|
ISO |
|
OMIM |
|
|
NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
|
|
|
G |
Amt |
aminomethyltransferase |
susceptibility |
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human) DNA:missense mutation:exon:p.H42R(human) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 PMID:9580775 PMID:9600239 PMID:9621520 PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:15272469 PMID:16051266 PMID:16199547 PMID:16450403 PMID:17576681 PMID:19299230 PMID:20301531 PMID:20949620 PMID:21520333 PMID:22171071 PMID:22261077 PMID:22532538 PMID:23352163 PMID:24033266 PMID:25231368 PMID:25640679 PMID:25741868 PMID:26179960 PMID:26371980 PMID:26467025 PMID:27164344 PMID:27362913 PMID:27620832 PMID:27884173 PMID:28244183 PMID:28462797 PMID:28492532 PMID:29300369 PMID:30105116 PMID:31319225 PMID:33726816 PMID:8005589 PMID:9621520 PMID:9600239 More...
|
RGD:1599106, RGD:11073529, RGD:12879455 |
NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
|
|
G |
Gcsh |
glycine cleavage system protein H |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:9536098 PMID:12402263 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33890291 PMID:36190515 More...
|
|
NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
|
|
G |
Gldc |
glycine decarboxylase |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Non-ketotic hyperglycinemia OMIM:605899 DNA:deletions: : DNA:mutation:cds: c.2607C>A(human) |
CTD ClinVar MouseDO RGD |
PMID:660 PMID:445864 PMID:1634607 PMID:1996985 PMID:9536098 PMID:10798358 PMID:10873393 PMID:11286506 PMID:11592811 PMID:12126939 PMID:12402263 PMID:15192636 PMID:15236413 PMID:15272469 PMID:15670722 PMID:15791207 PMID:15824356 PMID:15851735 PMID:15864413 PMID:16199547 PMID:16404748 PMID:16450403 PMID:16601880 PMID:16802295 PMID:17074608 PMID:17361008 PMID:17576681 PMID:18581728 PMID:19763152 PMID:20301531 PMID:20307669 PMID:20691948 PMID:20933183 PMID:21316884 PMID:21411353 PMID:22171071 PMID:22206881 PMID:22406018 PMID:22532538 PMID:22633639 PMID:23349517 PMID:24033266 PMID:24123366 PMID:24407464 PMID:24838951 PMID:25231368 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26179960 PMID:26467025 PMID:26539891 PMID:26749113 PMID:26947380 PMID:26969502 PMID:27362813 PMID:27362913 PMID:27535533 PMID:27617160 PMID:27799067 PMID:27884173 PMID:27896094 PMID:28116331 PMID:28244183 PMID:28302194 PMID:28325525 PMID:28416785 PMID:28468868 PMID:28492532 PMID:28737873 PMID:29046206 PMID:29153744 PMID:29205322 PMID:29232014 PMID:29239742 PMID:29929752 PMID:29988937 PMID:30609409 PMID:31028937 PMID:31319225 PMID:31785789 PMID:32421718 PMID:32593896 PMID:32743799 PMID:33502061 PMID:33524012 PMID:33977025 PMID:34513771 PMID:34587689 PMID:35616651 PMID:273629130 PMID:17361008 PMID:15851735 More...
|
RGD:12904646, RGD:11062733 |
NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
|
|
G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
|
|
G |
Kdm4c |
lysine demethylase 4C |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
|
|
G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:8005589 PMID:9536098 PMID:9621520 PMID:16199547 PMID:16450403 PMID:17576681 PMID:19299230 PMID:23352163 PMID:25741868 PMID:26179960 PMID:26467025 PMID:27362913 PMID:27620832 PMID:28492532 PMID:30105116 More...
|
|
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
|
|
G |
Rhoa |
ras homolog family member A |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
|
|
G |
Slc6a9 |
solute carrier family 6 member 9 |
|
ISS |
OMIM:605899 |
MouseDO |
|
|
NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
|
|
G |
Tcta |
T-cell leukemia translocation altered |
|
ISO |
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
|
|
|
G |
Gldc |
glycine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 1 |
OMIM ClinVar |
PMID:26539891 PMID:28492532 |
|
NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
|
|
|
G |
Amt |
aminomethyltransferase |
|
ISO |
ClinVar Annotator: match by term: Glycine encephalopathy 2 |
OMIM ClinVar |
PMID:4434100 PMID:8005589 PMID:9600239 PMID:9621520 PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:16199547 PMID:16450403 PMID:20301531 PMID:20949620 PMID:22261077 PMID:23352163 PMID:25231368 PMID:25741868 PMID:26179960 PMID:27164344 PMID:27362913 PMID:28244183 PMID:28462797 PMID:28492532 More...
|
|
NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
|
|
G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Glycine encephalopathy 2 |
ClinVar |
PMID:9621520 PMID:16450403 PMID:28492532 |
|
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
|
|
|
G |
Slc6a9 |
solute carrier family 6 member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 PMID:27481395 PMID:27773429 PMID:28492532 PMID:29190063 PMID:32712301 More...
|
|
NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
|
|
|
G |
Gnmt |
glycine N-methyltransferase |
|
ISO ISS |
OMIM:606664 ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency |
OMIM MouseDO ClinVar |
PMID:11596649 PMID:11810299 PMID:14739680 PMID:28492532 |
|
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
|
|
|
G |
Slc36a1 |
solute carrier family 36 member 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperglycinuria |
ClinVar |
PMID:19033659 |
|
NCBI chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217
|
|
G |
Slc36a2 |
solute carrier family 36 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperglycinuria |
OMIM CTD ClinVar |
PMID:19033659 PMID:25741868 PMID:28492532 |
|
NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082
|
|
G |
Slc6a19 |
solute carrier family 6 member 19 |
|
ISO |
ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II |
ClinVar |
PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:17576681 PMID:18484095 PMID:19033659 PMID:19185582 PMID:19472175 PMID:21814048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28924877 PMID:30626930 More...
|
|
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
|
|
G |
Slc6a20a |
solute carrier family 6 member 20a |
|
ISO |
ClinVar Annotator: match by term: Hyperglycinuria |
ClinVar |
PMID:19033659 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
|
|
|
G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome |
ClinVar |
PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25741868 PMID:26684649 PMID:28492532 More...
|
|
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
|
|
|
G |
Myo5a |
myosin VA |
|
ISO ISS |
OMIM:214450 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Griscelli syndrome type 1 |
OMIM MouseDO CTD ClinVar |
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32275080 More...
|
|
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
|
|
|
G |
Ccpg1 |
cell cycle progression 1 |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
|
|
G |
Dnaaf4 |
dynein axonemal assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
|
|
G |
Pierce2 |
piercer of microtubule wall 2 |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849
|
|
G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:10835631 PMID:23160464 PMID:28492532 |
|
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
|
|
G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16199547 PMID:16278825 PMID:16551969 PMID:17085000 PMID:17576681 PMID:18350256 PMID:18397837 PMID:18403584 PMID:19030707 PMID:19953648 PMID:22475297 PMID:23160464 PMID:24033266 PMID:24678334 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:25901543 PMID:26684649 PMID:26880764 PMID:27016801 PMID:27416802 PMID:27781387 PMID:28353193 PMID:28492532 PMID:28585352 PMID:28936583 PMID:29357941 PMID:29522846 PMID:30104219 PMID:30290665 PMID:30697212 PMID:30899265 PMID:30934652 PMID:31233462 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32853466 PMID:32856792 PMID:32860008 PMID:32888943 PMID:32965739 PMID:33225392 PMID:33362801 PMID:34329649 PMID:34573280 PMID:34796988 More...
|
|
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
|
|
|
G |
Mlph |
melanophilin |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 PMID:26337734 PMID:26915675 PMID:28492532 PMID:30389201 PMID:31721180 PMID:32864751 More...
|
|
NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
|
|
G |
Myo5a |
myosin VA |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 3 |
ClinVar |
PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 |
|
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
|
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO ISS |
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition OMIM:612736 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:23846910 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:28055022 PMID:28438604 PMID:28492532 PMID:29506905 PMID:29655203 PMID:31130284 PMID:31222513 PMID:32214227 PMID:33996490 PMID:34015165 PMID:34389248 More...
|
|
NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
|
|
G |
Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
|
|
|
G |
Slc6a19 |
solute carrier family 6 member 19 |
susceptibility |
ISO ISS |
DNA:mutations OMIM:234500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect |
MouseDO CTD ClinVar OMIM RGD |
PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 PMID:19033659 PMID:19185582 PMID:19472175 PMID:20399395 PMID:21814048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28924877 PMID:15286787 More...
|
RGD:1600035 |
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
|
|
|
G |
Hpd |
4-hydroxyphenylpyruvate dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Hawkinsinuria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:858207 PMID:1130176 PMID:1519651 PMID:9536098 PMID:10942115 PMID:11073718 PMID:16199547 PMID:17560158 PMID:17576681 PMID:19630565 PMID:23036342 PMID:25255367 PMID:25741868 PMID:26226126 PMID:28492532 PMID:28649543 PMID:30984715 PMID:31028937 PMID:31069529 PMID:31589614 PMID:32520295 More...
|
|
NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
|
|
|
G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome DNA:duplication, deletions:introns, exons: (mouse) |
ClinVar RGD |
PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 PMID:12125811 PMID:11056055 PMID:11861280 More...
|
RGD:1578409, RGD:11087577, RGD:11087576 |
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
|
|
G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
CTD ClinVar |
|
|
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
|
|
G |
Bloc1s3 |
biogenesis of lysosomal organelles complex-1, subunit 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 |
|
NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
|
|
G |
Bloc1s4 |
biogenesis of lysosomal organelles complex 1 subunit 4 |
|
ISS |
|
MouseDO |
|
|
NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
|
|
G |
Bloc1s5 |
biogenesis of lysosomal organelles complex 1 subunit 5 |
|
ISS ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
MouseDO ClinVar |
PMID:32565547 |
|
NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
|
|
G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
CTD ClinVar |
PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:33543539 More...
|
|
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased secretion:lung, alveolar macrophage (human) |
RGD |
PMID:19729668 |
RGD:4891476 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
|
|
G |
Cp |
ceruloplasmin |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
ClinVar |
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31064749 PMID:31898847 More...
|
|
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
|
|
G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
disease_progression |
ISO |
|
RGD |
PMID:25347450 |
RGD:11352293 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
|
|
G |
Dtnbp1 |
dystrobrevin binding protein 1 |
|
ISO |
DNA:deletion:intron, exon ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:24033266 PMID:28492532 PMID:12923531 |
RGD:11251756 |
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
|
|
G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome |
ClinVar |
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15519141 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:23103514 PMID:24033266 PMID:24583434 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30387913 PMID:30634918 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32662942 PMID:32725903 PMID:33878481 PMID:34216551 PMID:34362826 PMID:34838614 More...
|
|
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
|
|
G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
|
ISO |
DNA:deletion: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30990103 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:35886065 PMID:11455388 More...
|
RGD:1599538 |
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
|
|
G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense,frameshift,insertion mutations:cds: DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022) |
ClinVar CTD RGD |
PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:31898847 PMID:12664304 PMID:11836498 PMID:23563589 More...
|
RGD:1599546, RGD:11354897, RGD:11353873 |
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
|
|
G |
Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
|
ISO |
DNA:mutations:multiple: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28492532 PMID:28640947 PMID:31064749 PMID:15296495 More...
|
RGD:11072072 |
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
|
|
G |
Hps6 |
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
ClinVar CTD RGD |
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 PMID:26575419 PMID:27225848 PMID:28492532 PMID:29345414 PMID:31064749 PMID:35054407 PMID:12548288 PMID:19843503 More...
|
RGD:632833, RGD:11073544 |
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
|
|
G |
Kxd1 |
KxDL motif containing 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
|
|
G |
Rab38 |
RAB38, member RAS oncogene family |
|
IAGP |
|
RGD |
PMID:19897744 |
RGD:2324690 |
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
|
|
G |
Rab38ru |
Rab38, member of RAS oncogene family, ruby allele |
|
IAGP |
|
RGD |
PMID:19897744 |
RGD:2324690 |
|
|
G |
Rabggta |
Rab geranylgeranyltransferase subunit alpha |
|
ISS |
|
MouseDO |
|
|
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
|
|
G |
Slc7a11 |
solute carrier family 7 member 11 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
|
|
G |
Vps33a |
VPS33A core subunit of CORVET and HOPS complexes |
|
ISS |
|
MouseDO |
|
|
NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
|
|
|
G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISS |
OMIM:203300 |
MouseDO |
|
|
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
|
|
G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33543539 |
|
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
|
|
G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
|
ISO ISS |
DNA:duplication:exon ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM:203300 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15519141 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:18326704 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:21833017 PMID:24033266 PMID:24583434 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29345414 PMID:29941477 PMID:30387913 PMID:30634918 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32662942 PMID:32725903 PMID:33878481 PMID:34216551 PMID:34362826 PMID:34838614 PMID:8896559 More...
|
RGD:1625056 |
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
|
|
G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells |
ClinVar |
PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 |
|
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
|
|
G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISS |
OMIM:203300 |
MouseDO |
|
|
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
|
|
|
G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISO |
ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 PMID:32935436 PMID:36430862 More...
|
|
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
|
|
|
G |
Bloc1s5 |
biogenesis of lysosomal organelles complex 1 subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:32565547 |
|
NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
|
|
|
G |
Aggf1 |
angiogenic factor with G patch and FHA domains 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
|
|
G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
|
ISO ISS |
OMIM:608233 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
OMIM MouseDO CTD ClinVar |
PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 PMID:16199547 PMID:16507770 PMID:16537806 PMID:16551969 PMID:17576681 PMID:23265383 PMID:23403622 PMID:24033266 PMID:25741868 PMID:25980904 PMID:27781387 PMID:28492532 PMID:31898847 PMID:32935436 More...
|
|
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
|
|
G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISS ISO |
OMIM:608233 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
MouseDO ClinVar |
PMID:28492532 |
|
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
|
|
G |
Arsb |
arylsulfatase B |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
|
|
G |
Crhbp |
corticotropin releasing hormone binding protein |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710
|
|
G |
F2rl1 |
F2R like trypsin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
|
|
G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 |
|
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
|
|
G |
Lhfpl2 |
LHFPL tetraspan subfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950
|
|
G |
Otp |
orthopedia homeobox |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359
|
|
G |
Pde8b |
phosphodiesterase 8B |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
|
|
G |
S100z |
S100 calcium binding protein Z |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,737,796...26,753,611
Ensembl chr 2:26,738,776...26,752,390
|
|
G |
Scamp1 |
secretory carrier membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673
|
|
G |
Tbca |
tubulin folding cofactor A |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907
|
|
G |
Wdr41 |
WD repeat domain 41 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,222,797...26,273,849
Ensembl chr 2:26,224,495...26,273,836
|
|
G |
Zbed3 |
zinc finger, BED-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 |
ClinVar |
PMID:16507770 PMID:23403622 PMID:28492532 |
|
NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386
|
|
|
G |
Cp |
ceruloplasmin |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 |
ClinVar |
PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31064749 PMID:31898847 More...
|
|
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
|
|
G |
Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM:614072 DNA:splice-site mutation:intron:1303+1G>A (human) |
OMIM ClinVar MouseDO RGD |
PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30791930 PMID:30990103 PMID:31064749 PMID:31141302 PMID:31880485 PMID:31898847 PMID:32581362 PMID:32725903 PMID:35886065 PMID:11590544 More...
|
RGD:11041885 |
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
|
|
|
G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis |
ClinVar |
PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
|
|
G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISO ISS |
OMIM:614073 ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 |
OMIM MouseDO ClinVar |
PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 PMID:21833017 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29600982 PMID:30985222 PMID:31898847 More...
|
|
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
|
|
|
G |
Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
|
ISO ISS |
OMIM:614074 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 |
OMIM MouseDO ClinVar |
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 PMID:24033266 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28296950 PMID:28492532 PMID:28640947 PMID:31064749 More...
|
|
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
|
|
|
G |
Hps6 |
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 |
|
ISO ISS |
ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM:614075 |
OMIM ClinVar MouseDO |
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 PMID:25741868 PMID:25949529 PMID:27225848 PMID:27593200 PMID:28492532 PMID:29054114 PMID:29345414 PMID:30369044 PMID:30387913 PMID:31064749 PMID:31898847 PMID:32581362 PMID:32725903 PMID:32830442 PMID:33878481 PMID:35054407 More...
|
|
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
|
|
|
G |
Dtnbp1 |
dystrobrevin binding protein 1 |
|
ISO ISS |
OMIM:614076 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 |
OMIM MouseDO ClinVar |
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 PMID:28492532 PMID:30990103 More...
|
|
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
|
|
|
G |
Bloc1s3 |
biogenesis of lysosomal organelles complex-1, subunit 3 |
|
ISO ISS |
OMIM:614077 ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 |
OMIM MouseDO ClinVar |
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29345414 More...
|
|
NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
|
|
|
G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO ISS |
OMIM:614171 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 |
OMIM MouseDO ClinVar |
PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:32245340 PMID:33543539 More...
|
|
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
|
|
|
G |
Hal |
histidine ammonia lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine |
OMIM CTD ClinVar |
PMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 PMID:24725463 PMID:25575548 PMID:25741868 PMID:27453504 PMID:28492532 More...
|
|
NCBI chr 7:28,007,449...28,037,701
Ensembl chr 7:28,006,972...28,037,701
|
|
|
G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
|
ISO ISS |
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY OMIM:605911 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 PMID:12072887 PMID:12647205 PMID:16199547 PMID:17576681 PMID:20346956 PMID:23751782 PMID:25511235 PMID:25741868 PMID:28492532 PMID:29597274 PMID:30283815 PMID:30477625 PMID:31910233 PMID:32259399 PMID:32952630 PMID:33045405 PMID:35308163 More...
|
|
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
|
|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency |
ClinVar |
|
|
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
|
|
|
G |
Cbr1 |
carbonyl reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
|
|
G |
Cbr3 |
carbonyl reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
|
|
G |
Chaf1b |
chromatin assembly factor 1 subunit B |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
|
|
G |
Cldn14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
|
|
G |
Dop1b |
DOP1 leucine zipper like protein B |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
|
|
G |
Hlcs |
holocarboxylase synthetase |
|
ISO |
DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
CTD ClinVar OMIM RGD |
PMID:6133032 PMID:7842009 PMID:8319716 PMID:8541348 PMID:8817339 PMID:9396568 PMID:9536098 PMID:9630604 PMID:9870216 PMID:10068510 PMID:10190325 PMID:10590022 PMID:10653324 PMID:11124959 PMID:11185745 PMID:11735028 PMID:12124727 PMID:12633764 PMID:15635070 PMID:16134170 PMID:16199547 PMID:16231399 PMID:17274881 PMID:17407983 PMID:17576681 PMID:18429047 PMID:18442489 PMID:18974016 PMID:19157941 PMID:19695181 PMID:19806568 PMID:20026029 PMID:20095979 PMID:21615476 PMID:21874615 PMID:21894551 PMID:22027809 PMID:24033266 PMID:24085707 PMID:24099927 PMID:24215330 PMID:24239178 PMID:25087612 PMID:25525159 PMID:25690727 PMID:25741868 PMID:26938784 PMID:27114915 PMID:27604308 PMID:28492532 PMID:29701239 PMID:32219826 PMID:32358368 PMID:32727382 PMID:33123633 PMID:12124727 More...
|
RGD:1302549 |
NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
|
|
G |
Morc3 |
MORC family CW-type zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646
|
|
G |
Setd4 |
SET domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
|
|
G |
Sim2 |
SIM bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
|
|
|
G |
Cndp1 |
carnosine dipeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4172777 |
|
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
|
|
|
G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
|
|
G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
|
|
G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
|
|
G |
Aire |
autoimmune regulator |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
|
|
G |
C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
|
|
G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
|
|
G |
Cbs |
cystathionine beta synthase |
|
ISO ISS |
DNA:point mutation:exon:G307S ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive OMIM:236200 | OMIM:236250 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 PMID:7564249 PMID:7581402 PMID:7611293 PMID:7635485 PMID:7762555 PMID:7849717 PMID:7967489 PMID:7981678 PMID:8353501 PMID:8528202 PMID:8554066 PMID:8744616 PMID:8755636 PMID:8803779 PMID:8940271 PMID:8940285 PMID:8990018 PMID:9156316 PMID:9232191 PMID:9266356 PMID:9361025 PMID:9536098 PMID:9587029 PMID:9590298 PMID:9675031 PMID:9708897 PMID:9813456 PMID:9864922 PMID:9870207 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10363126 PMID:10364517 PMID:10408774 PMID:10462600 PMID:10531322 PMID:10687314 PMID:10780316 PMID:10807759 PMID:11013450 PMID:11204591 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11522031 PMID:11524006 PMID:11553052 PMID:11748855 PMID:11774777 PMID:11926827 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12379655 PMID:12552044 PMID:12686134 PMID:12815602 PMID:12828591 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14739681 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:15494741 PMID:15993874 PMID:16167124 PMID:16199547 PMID:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 PMID:16470595 PMID:16479318 PMID:16619244 PMID:16786517 PMID:17056636 PMID:17069888 PMID:17072863 PMID:17319270 PMID:17327360 PMID:17352495 PMID:17540596 PMID:17576681 PMID:17601930 PMID:18194900 PMID:18201569 PMID:18280597 PMID:18423051 PMID:18454451 PMID:18708589 PMID:18805305 PMID:18950795 PMID:19232736 PMID:19370759 PMID:19429038 PMID:19819175 PMID:19906435 PMID:19914636 PMID:20031640 PMID:20051935 PMID:20066033 PMID:20308073 PMID:20455263 PMID:20490928 PMID:20506325 PMID:20567906 PMID:20601281 PMID:20694756 PMID:20821054 PMID:20871414 PMID:21030686 PMID:21062078 PMID:21240075 PMID:21308989 PMID:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22002135 PMID:22069143 PMID:22140583 PMID:22267502 PMID:22333527 PMID:22353391 PMID:22382802 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22977242 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23812867 PMID:23934999 PMID:23974653 PMID:23981774 PMID:24033266 PMID:24138954 PMID:24211323 PMID:24613005 PMID:24990611 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25331909 PMID:25336647 PMID:25455305 PMID:25516723 PMID:25640679 PMID:25741868 PMID:25939784 PMID:26132555 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:30165906 PMID:30202406 PMID:30246729 PMID:30380942 PMID:30556376 PMID:30732165 PMID:30873612 PMID:31139930 PMID:31211624 PMID:31240737 PMID:31279624 PMID:31301157 PMID:31664448 PMID:32000841 PMID:32232970 PMID:32245022 PMID:32768567 PMID:32769498 PMID:33057012 PMID:33223529 PMID:33335839 PMID:33985475 PMID:34426522 PMID:34449519 PMID:34449521 PMID:34818515 PMID:34842599 PMID:35281663 PMID:7506602 More...
|
RGD:1600622 |
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
|
|
G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
|
|
G |
Col6a1 |
collagen type VI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
|
|
G |
Col6a2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
|
|
G |
Cryaa |
crystallin, alpha A |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
|
|
G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
|
|
G |
Dnmt3l |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
|
|
G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
|
|
G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
|
|
G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
|
|
G |
Icoslg |
inducible T-cell co-stimulator ligand |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
|
|
G |
Krtap10-1 |
keratin associated protein 10-1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362
|
|
G |
Krtap10-10 |
keratin associated protein 10-10 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,854,951...10,864,402
|
|
G |
Krtap10-2 |
keratin associated protein 10-2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,888,588...10,889,386
|
|
G |
Krtap10-8 |
keratin associated protein 10-8 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
|
|
G |
Krtap10-9 |
keratin associated protein 10-9 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
|
|
G |
Krtap12-1 |
keratin associated protein 12-1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,917,340...10,917,949
|
|
G |
Krtap12-2 |
keratin associated protein 12-2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,904,422...10,904,751
|
|
G |
Krtap12-4 |
keratin associated protein 12-4 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,910,350...10,910,682
|
|
G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
|
|
G |
Lss |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
|
|
G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Homocystinuria |
ClinVar |
PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 PMID:34356170 More...
|
|
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Homocystinuria |
ClinVar |
PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 More...
|
|
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
|
|
G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
ISO |
DNA:polymorphisms,mutations: : ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15714522 More...
|
RGD:5508189 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
|
|
G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074 Ensembl chr13:9,612,431...9,623,074
|
|
G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
|
|
G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
|
|
G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
|
|
G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
|
|
G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: CBS deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
|
|
G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
|
|
G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
|
|
G |
Prdm15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
|
|
G |
Pttg1ip |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
|
|
G |
Pwp2 |
PWP2, small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
|
|
G |
Rrp1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
|
|
G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
|
|
G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
|
|
G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
|
|
G |
Slc37a1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
|
|
G |
Slx9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
|
|
G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
|
|
G |
Sumo3 |
small ubiquitin-like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877 Ensembl chr20:11,007,148...11,020,877
|
|
G |
Tff1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
|
|
G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
|
|
G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
|
|
G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
|
|
G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
|
|
G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
|
|
G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
|
|
G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
|
|
G |
Ubash3a |
ubiquitin associated and SH3 domain containing, A |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
|
|
G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
|
|
G |
Umodl1 |
uromodulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
|
|
G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
|
|
G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
|
|
G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
ClinVar |
PMID:10338090 PMID:12124992 PMID:28492532 |
|
NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
|
|
|
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:33057012 PMID:33223529 PMID:33985475 PMID:34426522 More...
|
|
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
|
|
|
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:30041674 PMID:31063268 PMID:33980297 More...
|
|
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
|
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
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:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25758715 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 PMID:34625984 More...
|
|
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
|
|
|
G |
Kynu |
kynureninase |
|
ISO |
ClinVar Annotator: match by term: Hydroxykynureninuria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17334708 PMID:25741868 |
|
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
|
|
|
G |
Arg1 |
arginase 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Arginase deficiency OMIM:207800 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:3658675 PMID:7649538 PMID:7981719 PMID:8902193 PMID:9536098 PMID:10502833 PMID:11883902 PMID:12052859 PMID:15565656 PMID:16199547 PMID:17576681 PMID:18666241 PMID:18957279 PMID:19052914 PMID:19562505 PMID:19936428 PMID:21310339 PMID:21802329 PMID:22959135 PMID:22964440 PMID:23859858 PMID:24103480 PMID:24482476 PMID:24814679 PMID:25741868 PMID:26169240 PMID:26310552 PMID:27038030 PMID:27898091 PMID:28089752 PMID:28492532 PMID:29443755 PMID:29726057 PMID:30285816 PMID:31130284 PMID:32450233 PMID:32769929 PMID:32778825 PMID:33193012 PMID:34419780 PMID:34782662 PMID:7649538 More...
|
RGD:1599208 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
|
|
G |
Bmal1 |
basic helix-loop-helix ARNT like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27056296 |
|
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Arginase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
|
|
G |
Enpp3 |
ectonucleotide pyrophosphatase/phosphodiesterase 3 |
|
ISO |
ClinVar Annotator: match by term: Arginase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041
|
|
G |
Med23 |
mediator complex subunit 23 |
|
ISO |
ClinVar Annotator: match by term: Arginase deficiency |
ClinVar |
PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:7649538 PMID:7981719 PMID:8902193 PMID:9536098 PMID:10502833 PMID:11883902 PMID:12052859 PMID:15565656 PMID:16199547 PMID:17576681 PMID:18666241 PMID:18957279 PMID:19052914 PMID:19562505 PMID:19936428 PMID:21310339 PMID:21802329 PMID:22959135 PMID:22964440 PMID:23859858 PMID:24103480 PMID:24482476 PMID:24814679 PMID:25741868 PMID:26169240 PMID:27038030 PMID:27898091 PMID:28089752 PMID:28492532 PMID:29726057 PMID:30285816 PMID:31130284 PMID:32450233 PMID:32769929 PMID:32778825 PMID:33193012 PMID:34419780 PMID:34782662 More...
|
|
NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
|
|
|
G |
Apbb2 |
amyloid beta precursor protein binding family B member 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
|
|
G |
Chrna9 |
cholinergic receptor nicotinic alpha 9 subunit |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
|
|
G |
Fam114a1 |
family with sequence similarity 114, member A1 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,275,693...43,346,154
Ensembl chr14:43,275,701...43,346,174
|
|
G |
Klb |
klotho beta |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
|
|
G |
Klhl5 |
kelch-like family member 5 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
|
|
G |
Lias |
lipoic acid synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
OMIM CTD ClinVar |
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:27923773 PMID:28492532 PMID:28817111 PMID:36680912 More...
|
|
NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
|
|
G |
Limch1 |
LIM and calponin homology domains 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,112,579...41,425,001
Ensembl chr14:41,114,803...41,425,191
|
|
G |
N4bp2 |
NEDD4 binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960
|
|
G |
Nsun7 |
NOP2/Sun RNA methyltransferase family member 7 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,878,562...41,935,238
Ensembl chr14:41,879,293...41,934,949
|
|
G |
Pds5a |
PDS5 cohesin associated factor A |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
|
|
G |
Phox2b |
paired-like homeobox 2b |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
|
|
G |
Rbm47 |
RNA binding motif protein 47 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
|
|
G |
Rfc1 |
replication factor C subunit 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
|
|
G |
Rhoh |
ras homolog family member H |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
|
|
G |
Rpl9 |
ribosomal protein L9 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136 Ensembl chr 3:42,893,942...42,897,136
|
|
G |
Smim14 |
small integral membrane protein 14 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760
|
|
G |
Tlr1 |
toll-like receptor 1 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
|
|
G |
Tlr10 |
toll-like receptor 10 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
|
|
G |
Tlr6 |
toll-like receptor 6 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
|
|
G |
Tmem156 |
transmembrane protein 156 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449
|
|
G |
Ube2k |
ubiquitin-conjugating enzyme E2K |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630
|
|
G |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
|
|
G |
Ugdh |
UDP-glucose 6-dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
|
G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24386282 |
|
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
|
|
G |
Ahcy |
adenosylhomocysteinase |
|
IDA |
|
RGD |
PMID:12208805 |
RGD:1598896 |
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
|
|
G |
Apoe |
apolipoprotein E |
treatment |
IEP |
|
RGD |
PMID:22762542 |
RGD:6903856 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
|
|
G |
Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
IEP |
protein:decreased expression:cerebral cortex |
RGD |
PMID:23467881 |
RGD:11576285 |
NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
IEP |
protein:decreased expression:cerebral cortex |
RGD |
PMID:23467881 |
RGD:11576285 |
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
|
|
G |
Bche |
butyrylcholinesterase |
|
IDA |
Protein:increased expression:serum |
RGD |
PMID:16442260 |
RGD:1599454 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
|
|
G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
|
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
|
|
G |
Cbs |
cystathionine beta synthase |
susceptibility |
IEP ISS ISO |
mRNA:decreased expression, protein:decreased expression OMIM:603174 ClinVar Annotator: match by term: Hyperhomocysteinemia associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD RGD |
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 PMID:19028542 PMID:19204075 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25741868 PMID:28492532 PMID:16636197 PMID:10704624 More...
|
RGD:1600624, RGD:40903036 |
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IEP |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:17977907 |
RGD:8549578 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
|
|
G |
Cth |
cystathionine gamma-lyase |
|
ISO |
ClinVar Annotator: match by term: Homocysteine, total plasma, elevated |
ClinVar |
PMID:15151507 PMID:25741868 |
|
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
|
|
G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:11950713 |
RGD:5135249 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
|
|
G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:11950713 |
RGD:5135249 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
|
|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:11950713 |
RGD:5135249 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
|
|
G |
Des |
desmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20116427 |
|
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
|
|
G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
IEP |
protein:decreased expression:heart (rat) |
RGD |
PMID:19906449 |
RGD:401959215 |
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
|
|
G |
Ece1 |
endothelin converting enzyme 1 |
|
IMP |
|
RGD |
PMID:19371338 |
RGD:4892572 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
|
|
G |
Ednra |
endothelin receptor type A |
|
IEP |
|
RGD |
PMID:19371338 |
RGD:4892572 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
|
|
G |
F10 |
coagulation factor X |
treatment |
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
|
|
G |
F12 |
coagulation factor XII |
treatment |
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
|
|
G |
F2 |
coagulation factor II, thrombin |
treatment |
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
|
|
G |
F8 |
coagulation factor VIII |
|
IDA |
|
RGD |
PMID:16046705 |
RGD:1601105 |
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:21717134 |
RGD:10449171 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gnmt |
glycine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317120 |
|
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
|
|
G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
IEP |
|
RGD |
PMID:24563435 |
RGD:11035307 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
|
|
G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
treatment |
IDA |
|
RGD |
PMID:25457025 |
RGD:13792697 |
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
treatment |
IDA |
|
RGD |
PMID:25457025 |
RGD:13792697 |
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
IDA |
|
RGD |
PMID:25457025 |
RGD:13792697 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
protein:increased expression:descending aorta, endothelial cells (rat) |
RGD |
PMID:20871618 |
RGD:4144131 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:renal glomerulus (mouse) |
RGD |
PMID:22647887 |
RGD:7175168 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:24739303 |
RGD:13204791 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
|
RGD |
PMID:12068375 |
RGD:1601425 |
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
|
|
G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16575899 PMID:17369066 |
|
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
|
|
G |
Ngf |
nerve growth factor |
|
IEP |
|
RGD |
PMID:21044172 |
RGD:5144149 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
|
|
G |
Nppb |
natriuretic peptide B |
|
IEP |
mRNA, protein:increased expression:heart, plasma |
RGD |
PMID:17303690 |
RGD:1642265 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17292331 PMID:19028542 |
|
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
|
|
G |
Pycard |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
|
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
|
|
G |
Slc46a1 |
solute carrier family 46 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19204075 |
|
NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
|
|
G |
Sod2 |
superoxide dismutase 2 |
treatment |
IEP |
|
RGD |
PMID:24563435 |
RGD:11035307 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO |
|
RGD |
PMID:24739303 |
RGD:13204791 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12615666 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
|
G |
Aass |
aminoadipate-semialdehyde synthase |
|
ISO |
ClinVar Annotator: match by term: Hyperlysinemia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:934735 PMID:10775527 PMID:23570448 PMID:23890588 PMID:25741868 PMID:28492532 PMID:36983702 More...
|
|
NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
|
|
|
G |
Ahcy |
adenosylhomocysteinase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypermethioninemia |
CTD ClinVar |
PMID:25741868 PMID:26974671 |
|
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
|
|
G |
Gnmt |
glycine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11596649 PMID:11810299 |
|
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
|
|
G |
Mat1a |
methionine adenosyltransferase 1A |
|
ISO |
ClinVar Annotator: match by term: Deficiency of methionine adenosyltransferase | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1527987 PMID:1683972 PMID:3812486 PMID:4421454 PMID:7229751 PMID:7560086 PMID:7573050 PMID:8770875 PMID:9042912 PMID:9482646 PMID:9536098 PMID:10677294 PMID:11278456 PMID:15935930 PMID:16199547 PMID:16435220 PMID:17576681 PMID:18500573 PMID:20675163 PMID:22178350 PMID:23425511 PMID:23430947 PMID:24231718 PMID:24445979 PMID:25638462 PMID:25741868 PMID:26289392 PMID:26933843 PMID:28186605 PMID:28492532 PMID:28748147 PMID:30389272 PMID:31061746 PMID:32335878 PMID:32496220 PMID:35095998 PMID:9042912 More...
|
RGD:1599915 |
NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
|
|
|
G |
Adk |
adenosine kinase |
|
ISO |
ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 |
|
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
|
|
|
G |
Ahcy |
adenosylhomocysteinase |
|
ISO |
ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
OMIM ClinVar |
PMID:9536098 PMID:15024124 PMID:16435181 PMID:16736098 PMID:16872278 PMID:17576681 PMID:18211827 PMID:19177456 PMID:19619139 PMID:20385918 PMID:20852937 PMID:22959829 PMID:24033266 PMID:25473036 PMID:25660390 PMID:25741868 PMID:28492532 PMID:28647132 PMID:28779239 PMID:29205322 PMID:31957987 PMID:33072517 More...
|
|
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
|
|
|
G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
|
ISO |
ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency |
ClinVar |
PMID:7493990 PMID:8178819 PMID:10220141 PMID:22237589 PMID:25741868 PMID:26830550 PMID:28492532 More...
|
|
NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
|
|
|
G |
Dnajc12 |
DnaJ heat shock protein family (Hsp40) member C12 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient |
OMIM CTD ClinVar |
PMID:9159748 PMID:25741868 PMID:28132689 PMID:28492532 PMID:28794131 PMID:28892570 PMID:30139987 PMID:30626930 PMID:32333439 More...
|
|
NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521
|
|
|
G |
Pah |
phenylalanine hydroxylase |
|
ISO |
ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD |
ClinVar |
PMID:1301200 PMID:8364546 PMID:9450897 PMID:9634518 PMID:10234516 PMID:10527663 PMID:17924342 PMID:18590700 PMID:21871829 PMID:22526846 PMID:25741868 PMID:26322415 PMID:26542770 PMID:27469133 PMID:28492532 PMID:32668217 More...
|
|
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
|
|
|
G |
Aldh4a1 |
aldehyde dehydrogenase 4 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia |
ClinVar |
|
|
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
|
|
|
G |
Dgcr6 |
DiGeorge syndrome critical region gene 6 |
|
ISO |
ClinVar Annotator: match by term: Proline dehydrogenase deficiency |
ClinVar |
PMID:12217952 PMID:19736351 PMID:26978485 PMID:28492532 |
|
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
|
|
G |
Prodh |
proline dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Proline dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:9536098 PMID:11510941 PMID:11891283 PMID:12217952 PMID:12525555 PMID:15449943 PMID:15494707 PMID:15662599 PMID:16199547 PMID:17412540 PMID:17576681 PMID:19736351 PMID:20524212 PMID:24033266 PMID:25312060 PMID:25741868 PMID:26978485 PMID:28492532 PMID:28708303 More...
|
|
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
|
|
|
G |
Akr7a2 |
aldo-keto reductase family 7, member A2 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
|
|
G |
Akr7a3 |
aldo-keto reductase family 7 member A3 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394
|
|
G |
Aldh4a1 |
aldehyde dehydrogenase 4 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2624476 PMID:9536098 PMID:9700195 PMID:16199547 PMID:17576681 PMID:22516612 PMID:25641190 PMID:25741868 PMID:26822237 PMID:28492532 More...
|
|
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
|
|
G |
Alpl |
alkaline phosphatase, biomineralization associated |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
|
|
G |
C1qa |
complement C1q A chain |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
|
|
G |
C1qb |
complement C1q B chain |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
|
|
G |
C1qc |
complement C1q C chain |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
|
|
G |
Camk2n1 |
calcium/calmodulin-dependent protein kinase II inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
|
|
G |
Capzb |
capping actin protein of muscle Z-line subunit beta |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
|
|
G |
Cda |
cytidine deaminase |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
|
|
G |
Cdc42 |
cell division cycle 42 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
|
|
G |
Cela3b |
chymotrypsin like elastase 3B |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
|
|
G |
Ddost |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
|
|
G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
|
|
G |
Eif4g3 |
eukaryotic translation initiation factor 4 gamma, 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363
|
|
G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
|
|
G |
Epha8 |
Eph receptor A8 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399
|
|
G |
Fam43b |
family with sequence similarity 43, member B |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601
|
|
G |
Hp1bp3 |
heterochromatin protein 1, binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000
|
|
G |
Hspg2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
|
|
G |
Htr6 |
5-hydroxytryptamine receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
|
|
G |
Iffo2 |
intermediate filament family orphan 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345
|
|
G |
Kif17 |
kinesin family member 17 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638
|
|
G |
Ldlrad2 |
low density lipoprotein receptor class A domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
|
|
G |
Micos10 |
mitochondrial contact site and cristae organizing system subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485
|
|
G |
Mrto4 |
MRT4 homolog, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287
|
|
G |
Mul1 |
mitochondrial E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863
|
|
G |
Nbl1 |
NBL1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719
|
|
G |
Otud3 |
OTU deubiquitinase 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560
|
|
G |
Pink1 |
PTEN induced kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
|
|
G |
Pla2g2a |
phospholipase A2 group IIA |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
|
|
G |
Pla2g2c |
phospholipase A2, group IIC |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377
|
|
G |
Pla2g2d |
phospholipase A2, group IID |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525
|
|
G |
Pla2g2e |
phospholipase A2, group IIE |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821
|
|
G |
Pla2g2f |
phospholipase A2, group IIF |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175
|
|
G |
Pla2g5 |
phospholipase A2, group V |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658
|
|
G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
|
|
G |
Rnf186 |
ring finger protein 186 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716
|
|
G |
Sh2d5 |
SH2 domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955
|
|
G |
Slc66a1 |
solute carrier family 66 member 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259
|
|
G |
Tmco4 |
transmembrane and coiled-coil domains 4 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723
|
|
G |
Ubr4 |
ubiquitin protein ligase E3 component n-recognin 4 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
|
|
G |
Ubxn10 |
UBX domain protein 10 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744
|
|
G |
Usp48 |
ubiquitin specific peptidase 48 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
|
|
G |
Vwa5b1 |
von Willebrand factor A domain containing 5B1 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518
|
|
G |
Wnt4 |
Wnt family member 4 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
|
|
G |
Zbtb40 |
zinc finger and BTB domain containing 40 |
|
ISO |
ClinVar Annotator: match by term: Hyperprolinemia type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415
|
|
|
G |
Slc6a6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy |
OMIM ClinVar |
PMID:25741868 PMID:31345061 PMID:31903486 |
|
NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
|
|
|
G |
Bcat2 |
branched chain amino acid transaminase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia |
ClinVar OMIM |
PMID:25653144 |
|
NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007
|
|
|
G |
Camkmt |
calmodulin-lysine N-methyltransferase |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:606407 |
CTD MouseDO |
PMID:26247364 |
|
NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
|
|
G |
Ppm1b |
protein phosphatase, Mg2+/Mn2+ dependent, 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
|
|
G |
Prepl |
prolyl endopeptidase-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
|
|
G |
Slc3a1 |
solute carrier family 3 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
|
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition |
OMIM ClinVar |
PMID:24130096 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29018201 PMID:31107239 More...
|
|
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
|
|
|
G |
Gls |
glutaminase |
|
ISO |
ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:30239721 |
|
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
|
|
|
G |
Acad8 |
acyl-CoA dehydrogenase family, member 8 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:9889013 PMID:12359132 PMID:15505379 PMID:16199547 PMID:16857760 PMID:17304052 PMID:17576681 PMID:17924841 PMID:21109224 PMID:23255084 PMID:24635911 PMID:25333069 PMID:25689098 PMID:25741868 PMID:28053874 PMID:28492532 PMID:30253142 PMID:30626930 PMID:31813752 PMID:32778825 PMID:33432785 PMID:34544473 PMID:35154245 More...
|
|
NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414
|
|
G |
Igsf9b |
immunoglobulin superfamily, member 9B |
|
ISO |
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase |
ClinVar |
PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 |
|
NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
|
|
G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase |
ClinVar |
PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 |
|
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
|
|
G |
Ncapd3 |
non-SMC condensin II complex, subunit D3 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase |
ClinVar |
PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 |
|
NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
|
|
G |
Thyn1 |
thymocyte nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase |
ClinVar |
PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 |
|
NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445
|
|
G |
Vps26b |
VPS26 retromer complex component B |
|
ISO |
ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase |
ClinVar |
PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 |
|
NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
|
|
|
G |
Suox |
sulfite oxidase |
|
ISO |
ClinVar Annotator: match by term: Isolated sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 PMID:10519592 PMID:12001203 PMID:12112661 PMID:12368985 PMID:15952210 PMID:16140720 PMID:17576681 PMID:17940249 PMID:19339519 PMID:19793632 PMID:22865819 PMID:23994568 PMID:24756183 PMID:24938149 PMID:25741868 PMID:25758000 PMID:28492532 PMID:28629418 PMID:28725568 PMID:28933809 PMID:28980090 PMID:29590070 PMID:31127934 PMID:31870341 PMID:32978145 PMID:33098801 PMID:33333793 PMID:34025712 PMID:34420858 PMID:34741542 PMID:34957373 PMID:35679912 PMID:35872528 More...
|
|
NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
|
|
|
G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 PMID:10677295 PMID:10713113 PMID:12767731 PMID:15337167 PMID:15486829 PMID:16199547 PMID:16602101 PMID:16825284 PMID:17001642 PMID:17027310 PMID:17576084 PMID:17576681 PMID:19089597 PMID:19099814 PMID:20519759 PMID:22004070 PMID:22350545 PMID:22960500 PMID:24019846 PMID:24059531 PMID:24516753 PMID:24637313 PMID:25220015 PMID:25741868 PMID:26018748 PMID:26589311 PMID:26937393 PMID:26990548 PMID:27629047 PMID:27904153 PMID:28492532 PMID:28535199 PMID:28631226 PMID:29402417 PMID:30159853 PMID:30838026 PMID:30904546 PMID:31442447 PMID:31589614 PMID:31707166 PMID:32505769 PMID:32778825 PMID:32977617 PMID:33123633 PMID:33496032 PMID:33521113 PMID:33565069 PMID:34394177 PMID:34535384 PMID:35095998 PMID:35782626 PMID:110677295 More...
|
|
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
|
|
|
G |
Dmac2l |
distal membrane arm assembly component 2 like |
|
ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 6:88,205,580...88,223,934
Ensembl chr 6:88,205,700...88,223,933
|
|
G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO ISS |
DNA:mutation:cds:c.241A4G(p.K81E)(human) ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition OMIM:236792 |
ClinVar MouseDO OMIM RGD |
PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 PMID:17576681 PMID:18362286 PMID:18414213 PMID:18415700 PMID:18780161 PMID:19863265 PMID:19911013 PMID:20052767 PMID:21937992 PMID:22030381 PMID:24573090 PMID:25033591 PMID:25741868 PMID:26467025 PMID:26829733 PMID:28492532 PMID:29458334 PMID:32626804 PMID:33061758 PMID:24573090 More...
|
RGD:13506824 |
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
|
|
G |
Sos2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria |
ClinVar |
PMID:15385440 |
|
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
|
|
G |
Vcpkmt |
valosin containing protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria |
ClinVar |
PMID:15385440 |
|
NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
|
|
|
G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
|
ISO |
ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11867634 PMID:15356046 PMID:15562009 PMID:15579781 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16885549 PMID:17378627 PMID:17466004 PMID:17539904 PMID:17823772 PMID:18025408 PMID:18414213 PMID:18596924 PMID:18981553 PMID:19475716 PMID:19766903 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943781 PMID:21142918 PMID:21378087 PMID:21422196 PMID:21674179 PMID:21814221 PMID:21989597 PMID:22151254 PMID:22210575 PMID:22533711 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23563683 PMID:24332968 PMID:24401662 PMID:25741868 PMID:25765446 PMID:25871929 PMID:26180531 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26740944 PMID:27538677 PMID:27573238 PMID:27677908 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29644095 PMID:29751826 PMID:30098243 PMID:30297969 PMID:30447144 PMID:30515958 PMID:30977832 PMID:31110826 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32640185 PMID:32792356 PMID:32928245 PMID:33400071 PMID:34171966 PMID:34194474 PMID:34426522 PMID:34462253 PMID:34777243 More...
|
|
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
|
|
G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
ISO |
ClinVar Annotator: match by term: Leucine-induced hypoglycemia |
ClinVar |
PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
|
|
|
G |
Acin1 |
apoptotic chromatin condensation inducer 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
|
|
G |
Adcy4 |
adenylate cyclase 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
|
|
G |
Ajuba |
ajuba LIM protein |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
|
|
G |
Ap1g2 |
adaptor related protein complex 1 subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
|
|
G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
|
|
G |
C15h14orf119 |
similar to human chromosome 14 open reading frame 119 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
|
|
G |
C15h14orf93 |
similar to human chromosome 14 open reading frame 93 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
|
|
G |
Carmil3 |
capping protein regulator and myosin 1 linker 3 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
|
|
G |
Cbln3 |
cerebellin 3 precursor |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
|
|
G |
Cdh24 |
cadherin 24 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
|
|
G |
Cebpe |
CCAAT/enhancer binding protein epsilon |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
|
|
G |
Cideb |
cell death-inducing DFFA-like effector b |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
|
|
G |
Cma1 |
chymase 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
|
|
G |
Cmtm5 |
CKLF-like MARVEL transmembrane domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
|
|
G |
Cpne6 |
copine 6 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
|
|
G |
Ctsg |
cathepsin G |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
|
|
G |
Dcaf11 |
DDB1 and CUL4 associated factor 11 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
|
|
G |
Dhrs1 |
dehydrogenase/reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
|
|
G |
Dhrs2 |
dehydrogenase/reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
|
|
G |
Dhrs4 |
dehydrogenase/reductase 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
|
|
G |
Efs |
embryonal Fyn-associated substrate |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
|
|
G |
Emc9 |
ER membrane protein complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
|
|
G |
Fitm1 |
fat storage-inducing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
|
|
G |
Gmpr2 |
guanosine monophosphate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
|
|
G |
Gzmb |
granzyme B |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
|
|
G |
Gzmf |
granzyme F |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
|
|
G |
Haus4 |
HAUS augmin-like complex, subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
|
|
G |
Homez |
homeobox and leucine zipper encoding |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
|
|
G |
Il25 |
interleukin 25 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
|
|
G |
Ipo4 |
importin 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
|
|
G |
Irf9 |
interferon regulatory factor 9 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
|
|
G |
Jph4 |
junctophilin 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
|
|
G |
Khnyn |
KH and NYN domain containing |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
|
|
G |
Lrp10 |
LDL receptor related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
|
|
G |
Ltb4r |
leukotriene B4 receptor |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,263,199...29,265,716
|
|
G |
Ltb4r2 |
leukotriene B4 receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
|
|
G |
Mdp1 |
magnesium-dependent phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
|
|
G |
Mir208a |
microRNA 208a |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,425,570...28,425,652
|
|
G |
Mir208b |
microRNA 208b |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
|
|
G |
Mmp14 |
matrix metallopeptidase 14 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
|
|
G |
Mrpl52 |
mitochondrial ribosomal protein L52 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
|
|
G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
|
|
G |
Nedd8 |
NEDD8 ubiquitin like modifier |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
|
|
G |
Nfatc4 |
nuclear factor of activated T-cells 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
|
|
G |
Ngdn |
neuroguidin |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
|
|
G |
Nop9 |
NOP9 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
|
|
G |
Nrl |
neural retina leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
|
|
G |
Nynrin |
NYN domain and retroviral integrase containing |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
|
|
G |
Oxa1l |
OXA1L, mitochondrial inner membrane protein |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:18716612 |
|
NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
|
|
G |
Pabpn1 |
poly(A) binding protein, nuclear 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
|
|
G |
Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
|
|
G |
Ppp1r3e |
protein phosphatase 1, regulatory subunit 3E |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
|
|
G |
Prmt5 |
protein arginine methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
|
|
G |
Psmb11 |
proteasome subunit beta 11 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,084,736...28,085,655
|
|
G |
Psmb5 |
proteasome 20S subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
|
|
G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
|
|
G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
|
|
G |
Rabggta |
Rab geranylgeranyltransferase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
|
|
G |
Rec8 |
REC8 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
|
|
G |
Rem2 |
RRAD and GEM like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
|
|
G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
|
|
G |
Rnf212b |
ring finger protein 212B |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
|
|
G |
Rnf31 |
ring finger protein 31 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
|
|
G |
Sdr39u1 |
short chain dehydrogenase/reductase family 39U, member 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
|
|
G |
Slc22a17 |
solute carrier family 22, member 17 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
|
|
G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO ISS |
DNA:deletion ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar Annotator: match by term: SLC7A7-related condition OMIM:222700 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:9829974 PMID:10080182 PMID:10080183 PMID:10631139 PMID:10655553 PMID:10737982 PMID:10980538 PMID:11377971 PMID:11544277 PMID:11883940 PMID:12402335 PMID:15756301 PMID:15776427 PMID:16199547 PMID:17530437 PMID:17576681 PMID:17666782 PMID:17764084 PMID:18716612 PMID:18846669 PMID:20301535 PMID:21110863 PMID:21716135 PMID:22325938 PMID:23430825 PMID:23542076 PMID:23772603 PMID:23940088 PMID:25326635 PMID:25419514 PMID:25614305 PMID:25640679 PMID:25741868 PMID:26740551 PMID:26865117 PMID:28028301 PMID:28492532 PMID:28976792 PMID:29058386 PMID:29795570 PMID:30054302 PMID:30832686 PMID:31014432 PMID:31211457 PMID:31427715 PMID:32249831 PMID:32542393 PMID:32888943 PMID:34095032 PMID:34589056 PMID:10080182 More...
|
RGD:1624296 |
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
|
|
G |
Slc7a8 |
solute carrier family 7 member 8 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
|
|
G |
Tgm1 |
transglutaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
|
|
G |
Thtpa |
thiamine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
|
|
G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
|
|
G |
Tm9sf1 |
transmembrane 9 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
|
|
G |
Tssk4 |
testis-specific serine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
|
|
G |
Zfhx2 |
zinc finger homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Lysinuric protein intolerance |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
|
|
|
G |
Gstz1 |
glutathione S-transferase zeta 1 |
|
ISO |
ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency |
OMIM ClinVar |
PMID:25741868 PMID:27876694 |
|
NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284
|
|
|
G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
|
|
G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
|
|
G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
|
|
G |
Axl |
Axl receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
|
|
G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
|
|
G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
|
|
G |
Bcat2 |
branched chain amino acid transaminase 2 |
|
ISO ISS |
OMIM:246900 | OMIM:248600 | OMIM:615135 CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:14755340 PMID:14755340 |
RGD:1300291 |
NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
ClinVar CTD RGD |
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2060625 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:19763152 PMID:20136525 PMID:20301495 PMID:20307669 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:22406018 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32005694 PMID:32193832 PMID:32812330 PMID:33300147 PMID:33996492 PMID:34556729 PMID:34738771 PMID:8037208 PMID:1943689 More...
|
RGD:737779, RGD:734637 |
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
|
|
G |
Bckdhb |
branched chain keto acid dehydrogenase E1 subunit beta |
|
ISO ISS |
DNA:deletion mutation:exon 1; ClinVar Annotator: match by term: Maple syrup urine disease OMIM:246900 | OMIM:248600 | OMIM:615135 ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
ClinVar MouseDO RGD |
PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:19715473 PMID:20301495 PMID:20307994 PMID:21484869 PMID:22326532 PMID:22350544 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24571530 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25748408 PMID:26232051 PMID:26239723 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29307017 PMID:29740478 PMID:29740775 PMID:29753318 PMID:30228974 PMID:30298499 PMID:31112740 PMID:31119508 PMID:31251765 PMID:31523617 PMID:31610500 PMID:31980395 PMID:32151765 PMID:32193832 PMID:32515140 PMID:32812330 PMID:33131499 PMID:33300147 PMID:33955723 PMID:34556729 PMID:34883003 PMID:35281663 PMID:2022752 More...
|
RGD:1599466 |
NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
|
|
G |
Bckdk |
branched chain ketoacid dehydrogenase kinase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
ClinVar |
PMID:25741868 PMID:35205278 |
|
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
|
|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
|
|
G |
C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
|
|
G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
|
|
G |
Cdc14a |
cell division cycle 14A |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
|
|
G |
Ceacam15 |
CEA cell adhesion molecule 15 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
|
|
G |
Ceacam4 |
CEA cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
|
|
G |
Ceacam6 |
CEA cell adhesion molecule 6 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
|
|
G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
|
|
G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
|
|
G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
|
|
G |
Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
|
|
G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
|
|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
|
|
G |
Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
|
|
G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
|
|
G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
|
ISO ISS |
ClinVar Annotator: match by term: Maple syrup urine disease ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease OMIM:246900 | OMIM:248600 | OMIM:615135 |
ClinVar MouseDO |
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:11112664 PMID:14508502 PMID:14517957 PMID:14741190 PMID:16199547 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:18378174 PMID:19480318 PMID:19823873 PMID:20307994 PMID:20570198 PMID:20639189 PMID:21098507 PMID:22090376 PMID:23313820 PMID:23757202 PMID:24033266 PMID:24268812 PMID:24304607 PMID:24394677 PMID:24772966 PMID:25255367 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26589311 PMID:27243974 PMID:27518768 PMID:27578510 PMID:28417071 PMID:28492532 PMID:28497172 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31980395 PMID:32193832 PMID:32778825 PMID:32812330 PMID:33083013 PMID:33123633 PMID:33131499 PMID:33868929 PMID:34069211 PMID:35799415 PMID:36361642 More...
|
|
NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
|
|
G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
|
|
G |
Dld |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
|
|
G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
|
|
G |
Dmrtc2 |
DMRT-like family C2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
|
|
G |
Dph5 |
diphthamide biosynthesis 5 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
|
|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
|
|
G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
|
|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
|
|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
|
|
G |
Elovl4 |
ELOVL fatty acid elongase 4 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
|
NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
|
|
G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
|
|
G |
Erich4 |
glutamate-rich 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
|
|
G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
|
|
G |
Extl2 |
exostosin-like glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:203,922,217...203,946,940
Ensembl chr 2:203,922,187...203,943,653
|
|
G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
|
|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
|
|
G |
Gpr88 |
G-protein coupled receptor 88 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,191,443...204,199,576
Ensembl chr 2:204,191,427...204,199,733
|
|
G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
|
|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
|
|
G |
Hmgn3 |
high mobility group nucleosomal binding domain 3 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
|
NCBI chr 8:84,022,493...84,059,329
Ensembl chr 8:84,022,495...84,062,976
|
|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
|
|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
|
|
G |
Lamb1 |
laminin subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
|
|
G |
Lca5 |
lebercilin LCA5 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
|
NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
|
|
G |
Lgals5 |
galectin 5 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
|
|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
|
|
G |
Lrrc39 |
leucine rich repeat containing 39 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,516,122...204,535,463
Ensembl chr 2:204,516,123...204,535,463
|
|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
|
|
G |
Lypd4 |
Ly6/Plaur domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
|
|
G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
G |
Mfsd14a |
major facilitator superfamily domain containing 14A |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,579,174...204,611,600
Ensembl chr 2:204,579,174...204,659,319
|
|
G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
|
|
G |
Numbl |
NUMB-like, endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
|
|
G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
|
|
G |
Phip |
pleckstrin homology domain interacting protein |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
|
NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
|
|
G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
|
|
G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
|
|
G |
Ppm1k |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
|
ISO ISS |
OMIM:246900 | OMIM:248600 | OMIM:615135 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23086801 PMID:28492532 |
|
NCBI chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
|
|
G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
|
|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
|
|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
|
|
G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
|
|
G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
|
|
G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
|
|
G |
Rtca |
RNA 3'-terminal phosphate cyclase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,455,175...204,476,450
Ensembl chr 2:204,455,175...204,476,460
|
|
G |
S1pr1 |
sphingosine-1-phosphate receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
|
|
G |
Sass6 |
SAS-6 centriolar assembly protein |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
|
|
G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
|
|
G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
|
|
G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
|
|
G |
Sh3bgrl2 |
SH3 domain binding glutamate-rich protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
|
NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
|
|
G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
|
|
G |
Slc30a7 |
solute carrier family 30 member 7 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
|
|
G |
Slc35a3 |
solute carrier family 35 member A3 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
|
|
G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
|
|
G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
|
|
G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
|
|
G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
|
|
G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
|
|
G |
Trmt13 |
tRNA methyltransferase 13 homolog |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,533,630...204,547,711
Ensembl chr 2:204,533,632...204,546,843
|
|
G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
|
|
G |
Ttk |
Ttk protein kinase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
|
NCBI chr 8:84,754,329...84,792,653
Ensembl chr 8:84,754,315...84,792,651
|
|
G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
|
|
G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
|
|
G |
Zfp526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
|
|
G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
|
|
G |
Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
|
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease type 1A |
OMIM ClinVar |
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2060625 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20301495 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24374108 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 PMID:29740775 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32193832 PMID:32812330 PMID:33300147 More...
|
|
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
|
|
|
G |
Bckdhb |
branched chain keto acid dehydrogenase E1 subunit beta |
|
ISO |
ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B |
ClinVar OMIM |
PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20301495 PMID:20307994 PMID:21484869 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26830710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:30228974 PMID:31112740 PMID:31980395 PMID:32812330 PMID:33131499 PMID:34556729 More...
|
|
NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
|
|
|
G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
|
ISO |
ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II |
OMIM ClinVar |
PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:14508502 PMID:14517957 PMID:14742428 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:18378174 PMID:19823873 PMID:20639189 PMID:24772966 PMID:25741868 PMID:26257134 PMID:27578510 PMID:28417071 PMID:28492532 PMID:28497172 PMID:31319225 PMID:31980395 PMID:32812330 PMID:33083013 PMID:35799415 PMID:36361642 More...
|
|
NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
|
|
|
G |
Pah |
phenylalanine hydroxylase |
|
ISO |
|
RGD |
PMID:14654659 |
RGD:1601526 |
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
|
|
G |
Psph |
phosphoserine phosphatase |
|
IEP |
|
RGD |
PMID:7201630 |
RGD:2308873 |
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
|
|
|
G |
C5h1orf167 |
similar to human chromosome 1 open reading frame 167 |
|
ISO |
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:158,495,514...158,505,671
|
|
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:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:15048559 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16199547 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17576681 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18854913 PMID:19031955 PMID:19648163 PMID:19810817 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20472929 PMID:20490923 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21131308 PMID:21387541 PMID:21480888 PMID:21534867 PMID:21644011 PMID:21778025 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22887477 PMID:22947400 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23526309 PMID:23648444 PMID:24033266 PMID:24241962 PMID:24726568 PMID:24797679 PMID:24908438 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25079578 PMID:25110820 PMID:25162892 PMID:25177243 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25758715 PMID:25778468 PMID:25856670 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27104192 PMID:27118298 PMID:27217051 PMID:27399166 PMID:27527345 PMID:27743313 PMID:27768236 PMID:27781293 PMID:27992285 PMID:28241805 PMID:28492532 PMID:28514598 PMID:28696419 PMID:29246599 PMID:29391032 PMID:29589488 PMID:29911750 PMID:30684021 PMID:31068897 PMID:31069529 PMID:31462756 PMID:31870219 PMID:32161077 PMID:32230794 PMID:32451826 PMID:32612964 PMID:32695297 PMID:32939339 PMID:33089527 PMID:33125268 PMID:34015165 PMID:34214447 PMID:34845156 PMID:35008593 PMID:35322348 PMID:35499206 PMID:35578252 PMID:36901693 More...
|
|
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
|
|
|
G |
Aldh6a1 |
aldehyde dehydrogenase 6 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency |
OMIM CTD ClinVar |
PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 PMID:23835272 PMID:25741868 PMID:28492532 PMID:32151545 More...
|
|
NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
|
|
G |
Bbof1 |
basal body orientation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 PMID:23835272 PMID:25741868 PMID:28492532 PMID:32151545 More...
|
|
NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
|
|
|
G |
Acsf3 |
acyl-CoA synthetase family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylmalonic acidemia |
CTD ClinVar |
PMID:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29144512 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 PMID:31980526 PMID:32944792 PMID:33879512 PMID:34426522 PMID:34440436 PMID:34900860 More...
|
|
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
|
|
G |
Cavin1 |
caveolae associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
|
|
G |
Crabp2 |
cellular retinoic acid binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
|
|
G |
Cycs |
cytochrome c, somatic |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
|
|
G |
Gpd2 |
glycerol-3-phosphate dehydrogenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
|
|
G |
Mcee |
methylmalonyl CoA epimerase |
|
ISO |
ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:16697227 PMID:16752391 PMID:17823972 PMID:25741868 PMID:25763508 PMID:25954003 PMID:27618451 PMID:27699154 PMID:28490743 PMID:28492532 PMID:29104221 PMID:30682498 PMID:31146325 More...
|
|
NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
|
|
G |
Mmaa |
metabolism of cobalamin associated A |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17728257 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:22661206 PMID:23026888 PMID:23711287 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:25959030 PMID:26270765 PMID:26370686 PMID:27591164 PMID:28492532 PMID:28497574 PMID:32754920 PMID:33029243 PMID:33726816 PMID:35618652 More...
|
|
NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
|
|
G |
Mmab |
metabolism of cobalamin associated B |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17410422 PMID:17576681 PMID:17948227 PMID:17957493 PMID:19625202 PMID:20301409 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:26589311 PMID:28492532 PMID:29039164 PMID:29197662 PMID:30022420 PMID:31260114 PMID:34796408 More...
|
|
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria |
ClinVar |
PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 PMID:34356170 More...
|
|
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
|
|
G |
Mmut |
methylmalonyl-CoA mutase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylmalonic acidemia |
CTD ClinVar |
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7909321 PMID:7912889 PMID:8880917 PMID:8990001 PMID:9285782 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16199547 PMID:16281286 PMID:16435223 PMID:16490061 PMID:16823967 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17432548 PMID:17445044 PMID:17470278 PMID:17957493 PMID:19088183 PMID:19375370 PMID:19955418 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:22614770 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24464670 PMID:24865477 PMID:25087612 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26270765 PMID:26420839 PMID:26454439 PMID:26615597 PMID:26790480 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27751223 PMID:28468868 PMID:28492532 PMID:28811685 PMID:30041674 PMID:30080956 PMID:30209273 PMID:31525265 PMID:31622506 PMID:31757659 PMID:32451238 PMID:32754920 PMID:33413471 PMID:34668645 PMID:35225935 PMID:36007526 PMID:36717752 PMID:36964972 More...
|
|
NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
|
|
G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
|
|
G |
Septin11 |
septin 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
|
|
G |
Septin2 |
septin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Suclg2 |
succinate-CoA ligase GDP-forming subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
|
NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170
|
|
|
G |
Cenpt |
centromere protein T |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 |
|
NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO ISS |
OMIM:309541 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
OMIM MouseDO CTD ClinVar |
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:35013307 More...
|
|
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
|
|
G |
Thap11 |
THAP domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 |
|
NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
|
|
|
G |
Arhgap10 |
Rho GTPase activating protein 10 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
|
|
G |
C19h4orf51 |
similar to human chromosome 4 open reading frame 51 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:28,669,044...28,704,512
Ensembl chr19:28,669,059...28,704,508
|
|
G |
Ednra |
endothelin receptor type A |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
|
|
G |
Lsm6 |
LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:29,098,254...29,112,858
Ensembl chr13:42,114,032...42,116,484 Ensembl chr19:42,114,032...42,116,484
|
|
G |
Mmaa |
metabolism of cobalamin associated A |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16199547 PMID:16247646 PMID:17576681 PMID:17728257 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:22661206 PMID:23026888 PMID:23711287 PMID:23716945 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:25959030 PMID:26270765 PMID:26370686 PMID:27591164 PMID:27858373 PMID:28492532 PMID:28497574 PMID:29996803 PMID:31497484 PMID:31622506 PMID:32034731 PMID:32754920 PMID:33029243 PMID:33453710 PMID:33726816 PMID:34915869 PMID:35618652 More...
|
|
NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
|
|
G |
Nr3c2 |
nuclear receptor subfamily 3, group C, member 2 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
|
|
G |
Pou4f2 |
POU class 4 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:29,486,686...29,490,327
Ensembl chr19:29,486,686...29,490,327
|
|
G |
Prmt9 |
protein arginine methyltransferase 9 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:30,376,342...30,414,491
Ensembl chr19:30,380,124...30,414,458
|
|
G |
Slc10a7 |
solute carrier family 10, member 7 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
|
|
G |
Tmem184c |
transmembrane protein 184C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:30,345,183...30,361,275
Ensembl chr19:30,345,290...30,361,269
|
|
G |
Ttc29 |
tetratricopeptide repeat domain 29 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615
|
|
G |
Zfp827 |
zinc finger protein 827 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
|
NCBI chr19:28,720,568...28,887,381
Ensembl chr19:28,721,021...28,887,191
|
|
|
G |
Mmab |
metabolism of cobalamin associated B |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 PMID:16199547 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17176040 PMID:17410422 PMID:17576681 PMID:17948227 PMID:17957493 PMID:18251506 PMID:18452306 PMID:19625202 PMID:20301409 PMID:20549364 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23674520 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:25760844 PMID:26589311 PMID:26694549 PMID:27591164 PMID:28468868 PMID:28492532 PMID:29039164 PMID:29197662 PMID:30022420 PMID:30041674 PMID:30712249 PMID:31260114 PMID:31622506 PMID:33453710 PMID:33552909 PMID:34796408 PMID:35712814 More...
|
|
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
|
|
G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type |
ClinVar |
PMID:15781192 PMID:16199547 PMID:16410054 PMID:20556797 PMID:23707710 PMID:24033266 PMID:25741868 PMID:27591164 PMID:28492532 PMID:30022420 PMID:34796408 More...
|
|
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
|
|
|
G |
Cd320 |
CD320 molecule |
|
ISO ISS |
ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect OMIM:613646 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34978764 |
|
NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
|
|
|
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
Ensembl chr 6:104,246,468...104,280,276
|
|
G |
Dcdc2c |
doublecortin domain containing 2C |
|
ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046
|
|
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:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
|
|
G |
Lmbrd1 |
LMBR1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 PMID:26997947 PMID:28492532 More...
|
|
NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
|
|
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 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: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:29396438 PMID:29453417 PMID:29581464 PMID:29731766 PMID:30157807 PMID:30197982 PMID:30209273 PMID:30293248 PMID:30863077 PMID:31092259 PMID:31130284 PMID:31137025 PMID:31278756 PMID:31279840 PMID:31470807 PMID:31503356 PMID:31555752 PMID:31574870 PMID:31998365 PMID:32058304 PMID:32071835 PMID:32099815 PMID:32164588 PMID:32439973 PMID:32457044 PMID:32481360 PMID:32943488 PMID:33411215 PMID:33473346 PMID:33515116 PMID:33562640 PMID:33691766 PMID:33726816 PMID:33931066 PMID:33982424 PMID:34102818 PMID:34215320 PMID:34356170 PMID:34389282 PMID:34445196 PMID:35190856 PMID:35193651 PMID:35361390 PMID:36338977 PMID:38387306 More...
|
|
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
|
|
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
Ensembl chr 3:34,708,649...34,726,771
|
|
G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 More...
|
|
NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
|
|
G |
Thap11 |
THAP domain containing 11 |
|
ISS |
OMIM:277400 |
MouseDO |
|
|
NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
|
|
|
G |
Mmadhc |
metabolism of cobalamin associated D |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 |
OMIM CTD ClinVar |
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 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
Ensembl chr 3:34,708,649...34,726,771
|
|
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 chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
|
|
|
G |
Col19a1 |
collagen type XIX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF |
ClinVar |
PMID:19136951 PMID:21303734 PMID:28492532 |
|
NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106
|
|
G |
Col9a1 |
collagen type IX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF |
ClinVar |
PMID:19136951 PMID:21303734 PMID:28492532 |
|
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
|
|
G |
Lmbrd1 |
LMBR1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF | ClinVar Annotator: match by term: VITAMIN B12 STORAGE DISEASE CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 PMID:24664876 PMID:25047945 PMID:25741868 PMID:26997947 PMID:28492532 PMID:32552793 PMID:34958133 More...
|
|
NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
|
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG |
CTD ClinVar OMIM |
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 PMID:9683607 PMID:10323741 PMID:12068375 PMID:12154064 PMID:12375236 PMID:12923861 PMID:16199547 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25758715 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 PMID:34625984 More...
|
|
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
|
|
|
G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 PMID:30293248 PMID:33845046 More...
|
|
NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
|
|
|
G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, mut type |
ClinVar |
PMID:25085752 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27720647 PMID:28492532 PMID:30851065 PMID:32658311 PMID:32885271 PMID:33471991 PMID:35264596 PMID:35534704 PMID:35643632 PMID:37449874 More...
|
|
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
|
|
G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
ClinVar |
|
|
NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type |
ClinVar |
PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 PMID:28693988 PMID:33515116 More...
|
|
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
|
|
G |
Mmut |
methylmalonyl-CoA mutase |
treatment |
ISO ISS |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency OMIM:251000 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
OMIM ClinVar MouseDO CTD RGD |
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7602808 PMID:7909321 PMID:7912889 PMID:7951229 PMID:8880917 PMID:8990001 PMID:9285782 PMID:9536098 PMID:9554742 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16199547 PMID:16281286 PMID:16435223 PMID:16451139 PMID:16490061 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17432548 PMID:17445044 PMID:17470278 PMID:17576681 PMID:17823972 PMID:17948227 PMID:17957493 PMID:17966092 PMID:19088183 PMID:19375370 PMID:19955418 PMID:20301409 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:21671183 PMID:22614770 PMID:22695176 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24330302 PMID:24464670 PMID:24865477 PMID:25087612 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25736335 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26174677 PMID:26270765 PMID:26318470 PMID:26420839 PMID:26454439 PMID:26483233 PMID:26615597 PMID:26790480 PMID:27060300 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27751223 PMID:27884173 PMID:28101778 PMID:28468868 PMID:28492532 PMID:28811685 PMID:29158924 PMID:29896740 PMID:30022420 PMID:30041674 PMID:30209273 PMID:30577886 PMID:30712249 PMID:30728829 PMID:31466887 PMID:31525265 PMID:31622506 PMID:31757659 PMID:31813137 PMID:32451238 PMID:32754920 PMID:33413471 PMID:34668645 PMID:35225935 PMID:35281663 PMID:36007526 PMID:19861951 PMID:17937813 PMID:27167370 More...
|
RGD:13208535, RGD:13208534, RGD:11526224 |
NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
|
|
G |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, mut type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
|
|
|
G |
Actg2 |
actin gamma 2, smooth muscle |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
|
|
G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
|
|
G |
Ankrd53 |
ankyrin repeat domain 53 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,245,561...116,253,018
Ensembl chr 4:116,246,955...116,253,017
|
|
G |
Atp6v1b1 |
ATPase H+ transporting V1 subunit B1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
|
|
G |
Aup1 |
AUP1, lipid droplet regulating VLDL assembly factor |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346
|
|
G |
Bola3 |
bolA family member 3 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797
|
|
G |
C1h2orf78 |
similar to human chromosome 2 open reading frame 78 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 1:92,743,788...92,752,219
Ensembl chr 1:92,746,607...92,752,133
|
|
G |
C4h2orf81 |
similar to human chromosome 2 open reading frame 81 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,661,617...115,667,929
Ensembl chr 4:115,661,638...115,703,815
|
|
G |
Ccdc142 |
coiled-coil domain containing 142 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,606,151...115,616,223
Ensembl chr 4:115,608,485...115,616,216
|
|
G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
|
|
G |
Cd207 |
CD207 molecule |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,155,229...116,161,587
Ensembl chr 4:116,155,212...116,161,518
|
|
G |
Clec4f |
C-type lectin domain family 4, member F |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,129,023...116,138,744
Ensembl chr 4:116,129,023...116,138,775
|
|
G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
|
|
G |
Dguok |
deoxyguanosine kinase |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
|
|
G |
Dok1 |
docking protein 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,537,453...115,540,464
Ensembl chr 4:115,537,462...115,540,465
|
|
G |
Dqx1 |
DEAQ box RNA-dependent ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
|
|
G |
Dusp11 |
dual specificity phosphatase 11 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,367,673...118,385,183
Ensembl chr 4:118,368,053...118,385,181
|
|
G |
Dysf |
dysferlin |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
|
|
G |
Egr4 |
early growth response 4 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
|
|
G |
Emx1 |
empty spiracles homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
|
|
G |
Exoc6b |
exocyst complex component 6B |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180
|
|
G |
Fbxo41 |
F-box protein 41 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
|
|
G |
Figla |
folliculogenesis specific bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
|
|
G |
Ino80b |
INO80 complex subunit B |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,627,907...115,631,069
Ensembl chr 4:115,627,908...115,631,456
|
|
G |
Lbx2 |
ladybird homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,591,974...115,593,859
Ensembl chr 4:115,591,974...115,594,132
|
|
G |
Loxl3 |
lysyl oxidase-like 3 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
|
|
G |
Mcee |
methylmalonyl CoA epimerase |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16697227 PMID:16752391 PMID:17823972 PMID:22522443 PMID:23542699 PMID:24033266 PMID:25073507 PMID:25741868 PMID:25763508 PMID:25954003 PMID:27618451 PMID:27699154 PMID:28490743 PMID:28492532 PMID:29104221 PMID:30682498 PMID:31146325 More...
|
|
NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
|
|
G |
Mob1a |
MOB kinase activator 1A |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,831,581...115,848,561
Ensembl chr 4:115,831,551...115,848,561
|
|
G |
Mogs |
mannosyl-oligosaccharide glucosidase |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032
|
|
G |
Mphosph10 |
M-phase phosphoprotein 10 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 1:117,948,134...117,964,149
Ensembl chr 1:117,948,134...117,964,149
|
|
G |
Mrpl53 |
mitochondrial ribosomal protein L53 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,615,329...115,616,219
|
|
G |
Mthfd2 |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608
|
|
G |
Nagk |
N-acetylglucosamine kinase |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137
|
|
G |
Nat8 |
N-acetyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,279,521...118,284,671
Ensembl chr 4:118,270,954...118,281,763
|
|
G |
Nat8b |
N-acetyltransferase 8B |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,359,445...118,364,351
Ensembl chr 4:118,359,443...118,363,563
|
|
G |
Noto |
notochord homeobox |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
|
|
G |
Paip2b |
poly(A) binding protein interacting protein 2B |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,292,001...116,323,387
Ensembl chr 4:116,292,020...116,323,379
|
|
G |
Pcgf1 |
polycomb group ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,576,165...115,587,019
Ensembl chr 4:115,583,867...115,587,008
|
|
G |
Pradc1 |
protease-associated domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
|
|
G |
Rab11fip5 |
RAB11 family interacting protein 5 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
|
|
G |
Rtkn |
rhotekin |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,640,813...115,657,952
Ensembl chr 4:115,640,774...115,657,952
|
|
G |
Sfxn5 |
sideroflexin 5 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
|
|
G |
Slc4a5 |
solute carrier family 4 member 5 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,710,101...115,810,330
Ensembl chr 4:115,725,592...115,810,323
|
|
G |
Smyd5 |
SMYD family member 5 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
|
|
G |
Spr |
sepiapterin reductase |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
|
|
G |
Stambp |
Stam binding protein |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
|
|
G |
Tet3 |
tet methylcytosine dioxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
|
|
G |
Tex261 |
testis expressed 261 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,253,547...116,260,730
Ensembl chr 4:116,244,600...116,260,253
|
|
G |
Tlx2 |
T-cell leukemia homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642
|
|
G |
Tprkb |
Tp53rk binding protein |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
|
|
G |
Vax2 |
ventral anterior homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,195,528...116,219,597
Ensembl chr 4:116,195,528...116,219,594
|
|
G |
Wbp1 |
WW domain binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,625,168...115,627,567
Ensembl chr 4:115,625,168...115,627,624
|
|
G |
Wdr54 |
WD repeat domain 54 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:115,654,968...115,677,979
Ensembl chr 4:115,654,968...115,661,562
|
|
G |
Zfp638 |
zinc finger protein 638 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III |
ClinVar |
PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498 More...
|
|
NCBI chr 4:116,355,934...116,475,051
Ensembl chr 4:116,402,428...116,479,845
|
|
|
G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
|
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
|
|
G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
|
NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
|
|
G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
|
NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
|
|
G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
|
NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
|
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
|
|
G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
|
NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
|
|
G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO ISS |
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM:612073 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 PMID:17576681 PMID:20301762 PMID:20843780 PMID:23759946 PMID:24033266 PMID:24659738 PMID:24986829 PMID:25741868 PMID:26467025 PMID:26475597 PMID:27651038 PMID:27913098 PMID:28492532 PMID:28749033 PMID:30315573 PMID:32404165 PMID:32718099 PMID:33231368 More...
|
|
NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
|
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type |
ClinVar |
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10677336 PMID:10732818 PMID:10869114 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11395038 PMID:11418485 PMID:11590551 PMID:11710708 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17284634 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18583979 PMID:18704422 PMID:19031955 PMID:19648163 PMID:20154341 PMID:20472929 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21534867 PMID:21644011 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23648444 PMID:24241962 PMID:25007187 PMID:25110820 PMID:25177243 PMID:25227144 PMID:25741868 PMID: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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
|
|
|
G |
Cd33 |
CD33 molecule |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,935,418...93,940,452
Ensembl chr 1:93,930,971...93,950,149
|
|
G |
Cldnd2 |
claudin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,848,533...93,851,693
Ensembl chr 1:93,848,533...93,851,217
|
|
G |
Etfa |
electron transfer flavoprotein subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
OMIM CTD ClinVar |
PMID:1430199 PMID:1882842 PMID:9334218 PMID:9536098 PMID:12486872 PMID:12815589 PMID:16199547 PMID:16510302 PMID:16546179 PMID:17576681 PMID:18289905 PMID:20674745 PMID:20736750 PMID:23785301 PMID:23867278 PMID:25741868 PMID:26409463 PMID:28492532 PMID:29096039 PMID:30510944 PMID:31268564 PMID:33450351 PMID:33768790 More...
|
|
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
|
|
G |
Etfb |
electron transfer flavoprotein subunit beta |
|
ISO |
ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7912128 PMID:9350306 PMID:9536098 PMID:12706375 PMID:12815589 PMID:16199547 PMID:16510302 PMID:17576681 PMID:17638024 PMID:18289905 PMID:19763152 PMID:20307669 PMID:20674745 PMID:22406018 PMID:22588007 PMID:23785301 PMID:24033266 PMID:25741868 PMID:27081516 PMID:28492532 PMID:30626930 PMID:31418342 PMID:31589614 PMID:32778825 PMID:35095998 More...
|
|
NCBI chr 1:93,851,908...93,866,072
Ensembl chr 1:93,851,858...93,866,068
|
|
G |
Etfdh |
electron transfer flavoprotein dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3126856 PMID:7173260 PMID:7757062 PMID:9536098 PMID:12359134 PMID:12815589 PMID:15662686 PMID:15669683 PMID:16199547 PMID:16434667 PMID:16510302 PMID:17060596 PMID:17412732 PMID:17576681 PMID:17584774 PMID:17977044 PMID:18289905 PMID:19249206 PMID:19265687 PMID:19758981 PMID:20023066 PMID:20138856 PMID:20370797 PMID:20837308 PMID:21088898 PMID:21347544 PMID:21907580 PMID:22013910 PMID:22041377 PMID:22611163 PMID:22664151 PMID:23106979 PMID:23628458 PMID:23700290 PMID:23727839 PMID:23785301 PMID:24190796 PMID:24357026 PMID:24516753 PMID:24522293 PMID:25119904 PMID:25200064 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25827849 PMID:25913573 PMID:26349199 PMID:26403312 PMID:26409463 PMID:27000805 PMID:27038534 PMID:27060313 PMID:27270537 PMID:27935074 PMID:28083701 PMID:28388738 PMID:28456887 PMID:28468868 PMID:28492532 PMID:28685490 PMID:28899466 PMID:28914566 PMID:28973083 PMID:29249369 PMID:29336361 PMID:29339009 PMID:29376578 PMID:29961769 PMID:29988809 PMID:30022752 PMID:30027710 PMID:30232818 PMID:30424791 PMID:30477628 PMID:30587156 PMID:30626930 PMID:30681493 PMID:30904546 PMID:31268564 PMID:31306230 PMID:31331668 PMID:31418342 PMID:31904027 PMID:31997039 PMID:32007756 PMID:32064983 PMID:32393189 PMID:32733732 PMID:32746448 PMID:32778825 PMID:32793418 PMID:32804429 PMID:32925727 PMID:33000234 PMID:33383363 PMID:33473335 PMID:33589341 PMID:33823724 PMID:34041209 PMID:34066864 PMID:34573316 PMID:34704421 PMID:34819910 PMID:35090233 PMID:35309592 PMID:35314173 More...
|
|
NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745
|
|
G |
Flad1 |
flavin adenine dinucleotide synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:25741868 PMID:27259049 PMID:28492532 PMID:30982706 PMID:31392824 |
|
NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
|
|
G |
Iglon5 |
IgLON family member 5 |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,880,906...93,898,929
Ensembl chr 1:93,881,991...93,898,754
|
|
G |
Lim2 |
lens intrinsic membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
|
|
G |
Madd |
MAP-kinase activating death domain |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
ClinVar |
PMID:25741868 PMID:32761064 |
|
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
|
|
G |
Nkg7 |
natural killer cell granule protein 7 |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,844,748...93,845,975
Ensembl chr 1:93,844,902...93,845,983
|
|
G |
Siglecl1 |
SIGLEC family like 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,916,971...93,924,742
Ensembl chr 1:93,900,773...93,913,028 Ensembl chr 1:93,900,773...93,913,028
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar Annotator: match by term: Glutaric acidemia type 2 |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
|
|
G |
Vsig10l |
V-set and immunoglobulin domain containing 10 like |
|
ISO |
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency |
ClinVar |
PMID:16510302 PMID:23785301 PMID:28492532 |
|
NCBI chr 1:93,871,487...93,880,157
Ensembl chr 1:93,851,774...93,879,566
|
|
|
G |
Bola3 |
bolA family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 |
OMIM CTD ClinVar |
PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 PMID:26741492 PMID:28492532 PMID:30302924 More...
|
|
NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797
|
|
G |
Tet3 |
tet methylcytosine dioxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 |
ClinVar |
|
|
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
|
|
|
G |
Nat8l |
N-acetyltransferase 8-like |
|
ISO |
ClinVar Annotator: match by term: N-acetylaspartate deficiency |
OMIM ClinVar |
PMID:19807691 |
|
NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
|
|
|
G |
Nags |
N-acetylglutamate synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
PMID:12594532 PMID:12754705 |
|
NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
|
|
|
G |
Slc25a13 |
solute carrier family 25 member 13 |
|
ISO |
ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II | ClinVar Annotator: match by term: SLC25A13-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11432966 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18367750 PMID:18392553 PMID:18487280 PMID:19036621 PMID:19413723 PMID:19470249 PMID:20301360 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:21979481 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:23701493 PMID:23901231 PMID:24069319 PMID:24161253 PMID:24327139 PMID:24586645 PMID:25110155 PMID:25216257 PMID:25741868 PMID:26852511 PMID:26858187 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:27829683 PMID:28492532 PMID:29651749 PMID:29659898 PMID:30098237 PMID:30887117 PMID:30904546 PMID:31180159 PMID:31450232 PMID:31845334 PMID:32962675 PMID:33497767 PMID:33763395 PMID:34006251 PMID:34045052 PMID:34295780 PMID:34704407 PMID:34800434 PMID:35142380 PMID:35798653 PMID:36599957 More...
|
|
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
|
|
|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
|
|
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
|
|
G |
Psat1 |
phosphoserine aminotransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
|
|
|
G |
Cep78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 2 |
ClinVar |
PMID:17436247 PMID:25152457 PMID:28492532 |
|
NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
|
|
G |
Gna14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 2 |
ClinVar |
PMID:17436247 PMID:25152457 PMID:28492532 |
|
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
|
|
G |
Gnaq |
G protein subunit alpha q |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 2 |
ClinVar |
PMID:17436247 PMID:25152457 PMID:28492532 |
|
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
|
|
G |
Psat1 |
phosphoserine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 PMID:26960553 PMID:28492532 PMID:30293248 PMID:31903955 PMID:32077105 PMID:32579715 PMID:34077496 PMID:34089226 More...
|
|
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
|
|
G |
Vps13a |
vacuolar protein sorting 13 homolog A |
|
ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 2 |
ClinVar |
PMID:17436247 PMID:25152457 PMID:28492532 |
|
NCBI chr 1:213,901,999...214,128,638
Ensembl chr 1:213,901,999...214,128,555
|
|
|
G |
Dph5 |
diphthamide biosynthesis 5 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
OMIM ClinVar |
PMID:25741868 PMID:35482014 |
|
NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
|
|
G |
Slc30a7 |
solute carrier family 30 member 7 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
ClinVar |
PMID:25741868 PMID:35482014 |
|
NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
|
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism |
ClinVar |
PMID:7874125 PMID:8302318 PMID:10649493 PMID:12876664 PMID:18463683 PMID:20426782 PMID:20861488 PMID:22734612 PMID:23504663 PMID:23744323 PMID:24033266 PMID:24118800 PMID:24361966 PMID:24518832 PMID:24845642 PMID:25741868 PMID:26165494 PMID:27734839 PMID:28266639 PMID:28492532 PMID:31077556 PMID:31229681 More...
|
|
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
G |
Slc45a2 |
solute carrier family 45, member 2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism |
ClinVar |
PMID:18821858 PMID:25741868 PMID:28266639 PMID:28492532 PMID:30868578 |
|
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
|
|
G |
Tyr |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism |
ClinVar |
PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1943686 PMID:2342539 PMID:7902671 PMID:8026428 PMID:8128955 PMID:9163730 PMID:9242509 PMID:10987646 PMID:11284711 PMID:11829136 PMID:13680365 PMID:15381243 PMID:15635296 PMID:15937636 PMID:16056219 PMID:16098056 PMID:16907708 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20806075 PMID:20861488 PMID:20861851 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23324268 PMID:23504663 PMID:24033266 PMID:24123366 PMID:24721949 PMID:25216246 PMID:25326635 PMID:25333069 PMID:25741868 PMID:25919014 PMID:26165494 PMID:27734839 PMID:27775880 PMID:27829221 PMID:28112372 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:29345414 PMID:31077556 PMID:31199599 PMID:32115698 PMID:32581362 PMID:33223529 PMID:33800529 PMID:34008892 More...
|
|
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
G |
Tyrp1 |
tyrosinase-related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism |
ClinVar |
PMID:16704458 PMID:21739261 PMID:25741868 PMID:28266639 PMID:28492532 |
|
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
|
|
|
G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
|
ISO ISS |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM:611126 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:23836383 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26467025 PMID:26475292 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27438479 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:30831263 PMID:31658717 PMID:31665838 PMID:32313153 PMID:32746448 PMID:33027564 PMID:34023438 PMID:34440436 More...
|
|
NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
ClinVar |
PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 More...
|
|
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
|
|
G |
Cfap92 |
cilia and flagella associated protein 92 |
|
ISO |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:27233227 PMID:28492532 PMID:30025539 PMID:30831263 PMID:32746448 More...
|
|
NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
|
|
G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29146704 PMID:33176815 More...
|
|
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
|
|
G |
Mks1 |
MKS transition zone complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:9536098 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:19466712 PMID:23736532 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26490104 PMID:28492532 PMID:28497568 PMID:30679815 More...
|
|
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 PMID:15358028 PMID:15519027 PMID:15856146 PMID:16715312 PMID:18403758 PMID:18409188 PMID:18957093 PMID:19150014 PMID:19659763 PMID:20019025 PMID:20624503 PMID:21185001 PMID:21239446 PMID:21638988 PMID:22267749 PMID:22455086 PMID:22857948 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24510615 PMID:24704860 PMID:25031304 PMID:25741868 PMID:26671970 PMID:27532257 PMID:27688314 PMID:27737317 PMID:28024942 PMID:28492532 PMID:28615295 PMID:29121657 PMID:29447731 PMID:30847666 PMID:30871747 PMID:31447099 PMID:33673806 PMID:35535697 More...
|
|
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
|
|
G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 PMID:26387595 PMID:28492532 PMID:29220678 More...
|
|
NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
|
|
|
G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
|
|
G |
Gpr143 |
G protein-coupled receptor 143 |
|
ISO ISS |
ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM:300500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 PMID:8634705 PMID:9529334 PMID:9536098 PMID:9887374 PMID:11214907 PMID:11520764 PMID:15965158 PMID:16199547 PMID:16646960 PMID:17576681 PMID:17960122 PMID:18523664 PMID:18978956 PMID:19390656 PMID:19610097 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
|
|
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
|
|
G |
Nr2e3 |
nuclear receptor subfamily 2, group E, member 3 |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism |
ClinVar |
PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27522502 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 PMID:32679203 PMID:34906470 PMID:36909829 More...
|
|
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
|
|
G |
Slc24a5 |
solute carrier family 24 member 5 |
|
ISS |
OMIM:300500 |
MouseDO |
|
|
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
|
|
G |
Tyr |
tyrosinase |
|
ISO |
DNA:mutations:cds:p.R402Q,p.S192Y(human) ClinVar Annotator: match by term: Ocular albinism |
ClinVar RGD |
PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20861488 PMID:22294196 PMID:24033266 PMID:24721949 PMID:25741868 PMID:25919014 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 PMID:7704033 More...
|
RGD:8694339 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
G |
Tyrp1 |
tyrosinase-related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
|
|
|
G |
Mitf |
melanocyte inducing transcription factor |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
|
|
G |
Pax3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
|
|
G |
Tyr |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness |
ClinVar |
PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 PMID:7955413 PMID:9242509 PMID:11284711 PMID:13680365 PMID:15146472 PMID:18463683 PMID:18821858 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19865097 PMID:20861488 PMID:21906913 PMID:22734612 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25333069 PMID:25741868 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28266639 PMID:28378818 PMID:28492532 PMID:28667292 PMID:28976636 PMID:30311386 PMID:31077556 PMID:31719542 PMID:32411182 More...
|
|
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
|
G |
Amacr |
alpha-methylacyl-CoA racemase |
|
ISO |
ClinVar Annotator: match by term: Oculocutaneous albinism |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
|
|
G |
Hps1 |
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
|
ISO |
associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: |
RGD |
PMID:16185271 |
RGD:11354899 |
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
|
|
G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Oculocutaneous albinism |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
|
|
G |
Mitf |
melanocyte inducing transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9158138 |
|
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
|
|
G |
Myef2 |
myelin expression factor 2 |
|
ISO |
ClinVar Annotator: match by term: Oculocutaneous albinism |
ClinVar |
PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 |
|
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISS ISO |
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312 ClinVar Annotator: match by term: Oculocutaneous albinism |
MouseDO ClinVar |
PMID:7874125 PMID:8302318 PMID:10987646 PMID:12876664 PMID:16199547 PMID:18036783 PMID:18463683 PMID:19060277 PMID:19865097 PMID:20861488 PMID:21541274 PMID:23504663 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28224992 PMID:28451379 PMID:28492532 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30414346 PMID:31429209 PMID:32741191 PMID:33050356 PMID:33612058 PMID:34838614 More...
|
|
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
G |
Slc24a5 |
solute carrier family 24 member 5 |
|
ISO |
ClinVar Annotator: match by term: Oculocutaneous albinism |
ClinVar |
PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 |
|
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
|
|
G |
Slc45a2 |
solute carrier family 45, member 2 |
|
ISS ISO |
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312 ClinVar Annotator: match by term: Oculocutaneous albinism |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
|
|
G |
Tyr |
tyrosinase |
treatment |
IAGP ISO ISS |
DNA:missense mutation:exon:p.R299H (rat) ClinVar Annotator: match by term: Oculocutaneous albinism CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.S128I(mouse) DNA:mutations:multiple: OCA1, OMIM:203100, OCA1B, OMIM:606952 |
ClinVar MouseDO CTD RGD |
PMID:666627 PMID:1429711 PMID:1642278 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1905879 PMID:1943686 PMID:1970634 PMID:2342539 PMID:2511845 PMID:5516239 PMID:7704033 PMID:7849740 PMID:7902671 PMID:7955413 PMID:8026428 PMID:8128955 PMID:8217557 PMID:8430701 PMID:8434585 PMID:9158138 PMID:9163730 PMID:9242509 PMID:9259202 PMID:10094567 PMID:10766867 PMID:10823941 PMID:10987646 PMID:11284711 PMID:11295837 PMID:11829136 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:15635296 PMID:15937636 PMID:16056219 PMID:16098056 PMID:16170149 PMID:16907708 PMID:17952075 PMID:17999355 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20806075 PMID:20861488 PMID:21458243 PMID:21541274 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23085273 PMID:23324268 PMID:23504663 PMID:24033266 PMID:24123366 PMID:24721949 PMID:25216246 PMID:25326635 PMID:25333069 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:26764160 PMID:26818737 PMID:27537549 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27887888 PMID:27959697 PMID:28041643 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30311386 PMID:30341532 PMID:30472657 PMID:31077556 PMID:31199599 PMID:31719542 PMID:32411182 PMID:32581362 PMID:32849781 PMID:33223529 PMID:33800529 PMID:34008892 PMID:34838614 PMID:35803923 PMID:15760344 PMID:8197131 PMID:15250938 PMID:22294196 PMID:1642278 More...
|
RGD:1599687, RGD:8694352, RGD:8694345, RGD:8694338, RGD:1599686 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
G |
Tyrp1 |
tyrosinase-related protein 1 |
|
ISO |
OCA3, OMIM:203290 ClinVar Annotator: match by term: Oculocutaneous albinism |
ClinVar RGD |
PMID:8651291 |
RGD:1599692 |
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
|
|
|
G |
Tyr |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition |
ClinVar |
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1900307 PMID:1900309 PMID:1903591 PMID:1905879 PMID:1943686 PMID:2113511 PMID:2342539 PMID:2567165 PMID:7704033 PMID:7902671 PMID:8128955 PMID:8430701 PMID:8434585 PMID:9158138 PMID:9163730 PMID:9242509 PMID:9259202 PMID:9536098 PMID:10766867 PMID:10823941 PMID:10987646 PMID:11284711 PMID:11295837 PMID:11829136 PMID:13680365 PMID:15146472 PMID:15381243 PMID:15635296 PMID:16056219 PMID:16417222 PMID:16570240 PMID:17576681 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18701257 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20806075 PMID:20861488 PMID:21541274 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23085273 PMID:23242301 PMID:23324268 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25326635 PMID:25703744 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27959697 PMID:28112372 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:31199599 PMID:33223529 PMID:34008892 PMID:34838614 PMID:35803923 More...
|
|
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
|
G |
Tyr |
tyrosinase |
treatment |
ISO |
DNA:missense mutation:exon: p.I151S(human) ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism CTD Direct Evidence: marker/mechanism DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human) DNA:mutations:multiple: |
ClinVar OMIM CTD RGD |
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1905879 PMID:1943686 PMID:1970634 PMID:2113511 PMID:2342539 PMID:2511845 PMID:2903492 PMID:5516239 PMID:7704033 PMID:7849740 PMID:7886000 PMID:7902671 PMID:7955413 PMID:8026428 PMID:8128955 PMID:8217557 PMID:8430701 PMID:8434585 PMID:8477259 PMID:9158138 PMID:9163730 PMID:9242509 PMID:9259202 PMID:9536098 PMID:10766867 PMID:10823941 PMID:10987646 PMID:11284711 PMID:11295837 PMID:11781109 PMID:11829136 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:15635296 PMID:15937636 PMID:16056219 PMID:16098056 PMID:16170149 PMID:16199547 PMID:16417222 PMID:16517127 PMID:16570240 PMID:16907708 PMID:17576681 PMID:17952075 PMID:17999355 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18701257 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20806075 PMID:20861488 PMID:20861851 PMID:21458243 PMID:21541274 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:22981120 PMID:23085273 PMID:23242301 PMID:23324268 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24123366 PMID:24461674 PMID:24721949 PMID:25216246 PMID:25326635 PMID:25333069 PMID:25455140 PMID:25703744 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:26764160 PMID:26818737 PMID:27537549 PMID:27666373 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27887888 PMID:27959697 PMID:28041643 PMID:28112372 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30311386 PMID:30472657 PMID:30996339 PMID:31077556 PMID:31199599 PMID:31229681 PMID:31589614 PMID:31719542 PMID:32115698 PMID:32411182 PMID:32552135 PMID:32581362 PMID:32901917 PMID:33223529 PMID:33800529 PMID:34008892 PMID:34838614 PMID:35803923 PMID:36413997 PMID:37217489 PMID:22088535 PMID:8996965 PMID:20447099 PMID:19436266 PMID:19436266 More...
|
RGD:8694334, RGD:8694340, RGD:8694337, RGD:8694335, RGD:8694335 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
|
G |
Tyr |
tyrosinase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism |
CTD OMIM ClinVar |
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1900307 PMID:1900309 PMID:1903591 PMID:1905879 PMID:1943686 PMID:1970634 PMID:2113511 PMID:2342539 PMID:2567165 PMID:5516239 PMID:7704033 PMID:7849740 PMID:7955413 PMID:8026428 PMID:8128955 PMID:8430701 PMID:8434585 PMID:9158138 PMID:9163730 PMID:9242509 PMID:9259202 PMID:10766867 PMID:10823941 PMID:10987646 PMID:11284711 PMID:11295837 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:15937636 PMID:16098056 PMID:16199547 PMID:16417222 PMID:16907708 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20861488 PMID:21541274 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23085273 PMID:23242301 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24123366 PMID:24721949 PMID:25216246 PMID:25333069 PMID:25703744 PMID:25741868 PMID:25919014 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28041643 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30311386 PMID:30472657 PMID:31077556 PMID:31719542 PMID:32411182 PMID:32581362 PMID:33223529 PMID:33800529 PMID:34008892 PMID:35803923 More...
|
|
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
|
|
G |
Zdhhc15 |
zinc finger DHHC-type palmitoyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: Oculocutaneous albinism type 1B |
ClinVar |
PMID:25741868 |
|
NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756
|
|
|
G |
Atp5me |
ATP synthase membrane subunit e |
|
ISO |
ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism |
ClinVar |
PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 PMID:28492532 More...
|
|
NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
|
|
G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism |
OMIM CTD ClinVar |
PMID:7581459 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10631149 PMID:11487574 PMID:11511307 PMID:11933208 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16280005 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17434924 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19710684 PMID:19799798 PMID:20876876 PMID:21128237 PMID:21749400 PMID:22095472 PMID:22547573 PMID:23312576 PMID:23360207 PMID:23522749 PMID:23647022 PMID:24033266 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24982914 PMID:25284244 PMID:25631192 PMID:25741868 PMID:26103569 PMID:26197705 PMID:26389780 PMID:26389967 PMID:28242083 PMID:28492532 More...
|
|
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
|
|
G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism CTD Direct Evidence: marker/mechanism DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human) DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human) DNA:missense mutation:cds:p.G775D (human) DNA:deletion:exon:699-?-859+?del (human) |
OMIM ClinVar CTD RGD |
PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 PMID:8980282 PMID:9259203 PMID:9536098 PMID:10094567 PMID:10649493 PMID:10671067 PMID:10905897 PMID:10987646 PMID:11179026 PMID:11464238 PMID:12163334 PMID:12469324 PMID:12687678 PMID:12713581 PMID:12876664 PMID:15173252 PMID:15712365 PMID:15889046 PMID:15942220 PMID:16199547 PMID:17160937 PMID:17236130 PMID:17385796 PMID:17568986 PMID:17576681 PMID:17767372 PMID:17960121 PMID:18252222 PMID:18326704 PMID:18463683 PMID:18683130 PMID:18821858 PMID:19060277 PMID:19865097 PMID:20019752 PMID:20301410 PMID:20426782 PMID:20806075 PMID:20861488 PMID:21085994 PMID:21458243 PMID:21541274 PMID:22734612 PMID:23010199 PMID:23103111 PMID:23504663 PMID:23744323 PMID:23824587 PMID:24033266 PMID:24118800 PMID:24361966 PMID:24518832 PMID:24845642 PMID:25060099 PMID:25412400 PMID:25455140 PMID:25513726 PMID:25741868 PMID:25741895 PMID:25809079 PMID:25919014 PMID:26165494 PMID:26474496 PMID:26818737 PMID:27231233 PMID:27468418 PMID:27734839 PMID:27887888 PMID:28041643 PMID:28224992 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28667292 PMID:28726809 PMID:28976636 PMID:29036293 PMID:29050284 PMID:29095814 PMID:29345414 PMID:29437493 PMID:30025130 PMID:30414346 PMID:30835348 PMID:31077556 PMID:31141302 PMID:31196117 PMID:31229681 PMID:31429209 PMID:31719542 PMID:31813138 PMID:32741191 PMID:32783370 PMID:32830442 PMID:33050356 PMID:33124154 PMID:33612058 PMID:33974259 PMID:34707637 PMID:34838614 PMID:35393538 PMID:37321975 PMID:37650133 PMID:12469324 PMID:22734612 PMID:20019752 PMID:7920637 More...
|
RGD:9491836, RGD:9491830, RGD:9491821, RGD:9491820 |
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism |
ClinVar |
PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 PMID:28492532 More...
|
|
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
|
|
G |
Tyrp1 |
tyrosinase-related protein 1 |
|
ISO |
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF |
ClinVar |
PMID:8651291 PMID:9345097 PMID:18680187 PMID:28492532 |
|
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
|
|
|
G |
Tyrp1 |
tyrosinase-related protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: TYRP1-related condition |
OMIM CTD ClinVar |
PMID:8651291 PMID:9345097 PMID:9536098 PMID:15996218 PMID:16199547 PMID:16704458 PMID:17576681 PMID:18326704 PMID:18680187 PMID:18821858 PMID:19533799 PMID:21739261 PMID:23504663 PMID:23862152 PMID:24033266 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28492532 PMID:28976636 PMID:29345414 PMID:31233279 PMID:31719542 More...
|
|
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
|
|
|
G |
Mitf |
melanocyte inducing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Oculocutaneous albinism type 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
|
|
G |
Slc45a2 |
solute carrier family 45, member 2 |
|
ISO |
DNA:missense mutations, frameshift mutations:cds:multiple (human) ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 PMID:15714523 PMID:16162179 PMID:16868655 PMID:17044855 PMID:17768386 PMID:19865097 PMID:20861488 PMID:21287499 PMID:21458243 PMID:23165166 PMID:24096233 PMID:24617981 PMID:24845642 PMID:25741868 PMID:26573111 PMID:26818737 PMID:27019209 PMID:27706749 PMID:27734839 PMID:28457509 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30019506 PMID:31077556 PMID:31199599 PMID:31229681 PMID:34078970 PMID:14961451 More...
|
RGD:1599921 |
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
|
|
|
G |
Myef2 |
myelin expression factor 2 |
|
ISO |
ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI |
ClinVar |
PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 PMID:28492532 PMID:31077556 More...
|
|
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
|
|
G |
Slc24a5 |
solute carrier family 24 member 5 |
|
ISO |
ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI |
OMIM ClinVar |
PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 PMID:28492532 PMID:31077556 More...
|
|
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
|
|
|
G |
Lrmda |
leucine rich melanocyte differentiation associated |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculocutaneous albinism type 7 |
OMIM CTD ClinVar |
PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532 PMID:29345414 PMID:31694064 More...
|
|
NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749
|
|
G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
|
|
|
G |
Dct |
dopachrome tautomerase |
|
ISO |
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII |
OMIM ClinVar |
PMID:25741868 PMID:33100333 PMID:33959807 |
|
NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
|
|
|
G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
|
|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
|
|
G |
Cfap47 |
cilia and flagella associated protein 47 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:43,264,687...43,616,607
Ensembl chr X:43,263,490...43,616,852
|
|
G |
Cxhxorf38 |
similar to human chromosome X open reading frame 38 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
|
|
G |
Cybb |
cytochrome b-245 beta chain |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
|
|
G |
Dmd |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
|
|
G |
Dynlt3 |
dynein light chain Tctex-type 3 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
|
|
G |
Efhc2 |
EF-hand domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr X:5,360,499...5,564,004
Ensembl chr X:5,360,617...5,560,970
|
|
G |
Fam47a |
family with sequence similarity 47, member A |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:42,762,231...42,763,887
Ensembl chr X:42,762,229...42,763,883
|
|
G |
Fthl17a |
ferritin, heavy polypeptide-like 17, member A |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:49,595,422...49,596,399
Ensembl chr X:49,595,718...49,596,266
|
|
G |
Gk |
glycerol kinase |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
|
|
G |
H2ap |
H2A.P histone |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:12,907,962...12,908,516
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
ISO |
|
RGD |
PMID:16703326 |
RGD:12743607 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
|
|
G |
Lancl3 |
LanC like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:13,478,499...13,609,934
Ensembl chr X:13,480,311...13,609,678
|
|
G |
Mageb16 |
MAGE family member B16 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:43,693,205...43,725,664
Ensembl chr X:43,693,211...43,725,657
|
|
G |
Med14 |
mediator complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
|
|
G |
Mid1ip1 |
MID1 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:12,060,993...12,063,318
Ensembl chr X:12,060,883...12,065,774
|
|
G |
Mpc1l |
mitochondrial pyruvate carrier 1-like |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
|
|
G |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
|
|
G |
Otc |
ornithine transcarbamylase |
|
IMP ISO ISS |
ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency OMIM:311250 CTD Direct Evidence: marker/mechanism CTD Direct Evidence: marker/mechanism|therapeutic DNA:missense mutation:exon:EX4p.R129H (mouse) DNA:missense mutations:multiple (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 PMID:1757964 PMID:2035531 PMID:2037279 PMID:2208768 PMID:2246687 PMID:2347583 PMID:2474822 PMID:2556444 PMID:2741942 PMID:2836378 PMID:2843770 PMID:3170748 PMID:7474892 PMID:7474905 PMID:7627182 PMID:7860064 PMID:7860066 PMID:7951259 PMID:8019569 PMID:8081398 PMID:8099056 PMID:8112735 PMID:8260194 PMID:8295401 PMID:8364586 PMID:8365726 PMID:8530002 PMID:8566955 PMID:8778603 PMID:8786061 PMID:8807340 PMID:8829665 PMID:8830175 PMID:8857803 PMID:8863155 PMID:8956038 PMID:8985493 PMID:9007316 PMID:9028466 PMID:9048915 PMID:9056557 PMID:9143919 PMID:9175746 PMID:9266387 PMID:9266388 PMID:9286441 PMID:9427144 PMID:9452024 PMID:9452049 PMID:9501271 PMID:9536098 PMID:9609999 PMID:9610619 PMID:9686344 PMID:9852088 PMID:10070627 PMID:10405441 PMID:10502831 PMID:10737985 PMID:10799432 PMID:10869432 PMID:10946359 PMID:11102556 PMID:11117428 PMID:11260212 PMID:11388595 PMID:11745010 PMID:11768581 PMID:11793468 PMID:11793483 PMID:12083811 PMID:12402347 PMID:12536032 PMID:12579493 PMID:14976564 PMID:15060014 PMID:15174800 PMID:16055928 PMID:16199547 PMID:16635166 PMID:16677864 PMID:16786505 PMID:16969763 PMID:17041896 PMID:17044854 PMID:17334707 PMID:17565723 PMID:17576681 PMID:17613537 PMID:17922216 PMID:18030415 PMID:18204299 PMID:18440262 PMID:18487280 PMID:18604903 PMID:18662984 PMID:19138872 PMID:19475717 PMID:19669271 PMID:19783189 PMID:19893582 PMID:20406775 PMID:20458665 PMID:20817516 PMID:21070677 PMID:21488237 PMID:21956151 PMID:22099885 PMID:22340867 PMID:22382802 PMID:22494545 PMID:22727265 PMID:23209112 PMID:23278509 PMID:23551631 PMID:23568734 PMID:23769969 PMID:24006547 PMID:24010702 PMID:24033266 PMID:24055113 PMID:24199608 PMID:24449986 PMID:25011434 PMID:25026867 PMID:25297582 PMID:25425289 PMID:25433810 PMID:25637381 PMID:25741868 PMID:25741869 PMID:25853564 PMID:25854183 PMID:25949836 PMID:25958381 PMID:25994866 PMID:26059767 PMID:26467025 PMID:26574542 PMID:26753873 PMID:26819360 PMID:27070778 PMID:27489649 PMID:27738433 PMID:28107167 PMID:28261508 PMID:28266016 PMID:28324312 PMID:28492532 PMID:28815739 PMID:28887792 PMID:29123827 PMID:29282796 PMID:29581464 PMID:30175132 PMID:30285816 PMID:30626930 PMID:31130284 PMID:31426867 PMID:32272297 PMID:32410394 PMID:32793520 PMID:32853555 PMID:32934962 PMID:32995020 PMID:33272297 PMID:33309754 PMID:33369132 PMID:33489762 PMID:33551825 PMID:33851512 PMID:34014557 PMID:34014569 PMID:34015158 PMID:34440436 PMID:34906067 PMID:35605046 PMID:35949797 PMID:36303552 PMID:7827141 PMID:2471197 PMID:8956038 PMID:11793468 More...
|
RGD:4144079, RGD:4144085, RGD:1600998, RGD:1600999 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
|
|
G |
Prrg1 |
proline rich and Gla domain 1 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:42,494,256...42,606,612
Ensembl chr X:42,494,256...42,606,588
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
|
|
G |
Srpx |
sushi-repeat-containing protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
|
|
G |
Sytl5 |
synaptotagmin-like 5 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
|
|
G |
Tab3 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
|
|
G |
Tasl |
TLR adaptor interacting with endolysosomal SLC15A4 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269
|
|
G |
Tmem47 |
transmembrane protein 47 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:45,421,405...45,447,900
Ensembl chr X:45,421,405...45,447,900
|
|
G |
Tspan7 |
tetraspanin 7 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:12,208,783...12,306,092
Ensembl chr X:12,208,783...12,306,131
|
|
G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
|
|
G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
|
|
NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830
|
|
|
G |
Slc25a15 |
solute carrier family 25 member 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency |
OMIM CTD ClinVar |
PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 PMID:11552031 PMID:11668643 PMID:12807890 PMID:14759633 PMID:16199547 PMID:16376511 PMID:16601889 PMID:16940241 PMID:17576681 PMID:17825324 PMID:18376250 PMID:18406340 PMID:18666241 PMID:18978333 PMID:19242930 PMID:22292090 PMID:22649802 PMID:23430880 PMID:24473688 PMID:25741868 PMID:25818551 PMID:25874378 PMID:26589310 PMID:28492532 PMID:29554876 PMID:30187369 PMID:30243302 PMID:31443672 PMID:31589614 PMID:32214227 PMID:32340404 More...
|
|
NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
|
|
|
G |
Dlst |
dihydrolipoamide S-succinyltransferase |
|
ISO |
ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency |
ClinVar |
|
|
NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296
|
|
G |
Ogdh |
oxoglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32383294 PMID:36520152 More...
|
|
NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479
|
|
|
G |
Dcxr |
dicarbonyl and L-xylulose reductase |
|
ISO |
ClinVar Annotator: match by term: Essential pentosuria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22042873 PMID:25526675 PMID:28595002 |
|
NCBI chr10:106,006,404...106,008,293
|
|
|
G |
Ascl1 |
achaete-scute family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Phenylketonuria |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
|
|
G |
Cast |
calpastatin |
|
ISO |
mRNA, protein:decreased expression:brain |
RGD |
PMID:15863237 |
RGD:5509818 |
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
|
|
G |
Cat |
catalase |
|
IEP |
protein:decreased activity:brain: |
RGD |
PMID:23232760 |
RGD:9068874 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Phenylketonuria |
ClinVar |
PMID:25741868 |
|
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
IEP |
|
RGD |
PMID:24488205 |
RGD:10449120 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gch1 |
GTP cyclohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric |
ClinVar |
PMID:15389992 PMID:19491146 PMID:24993959 PMID:25125585 PMID:25398234 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:28492532 PMID:30314816 More...
|
|
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
protein:decreased expression:forebrain (mouse) |
RGD |
PMID:16153867 |
RGD:13210766 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
|
|
G |
Hnf1a |
HNF1 homeobox A |
|
ISS |
OMIM:261600 |
MouseDO |
|
|
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
|
|
G |
Nefh |
neurofilament heavy chain |
|
IEP |
protein:decreased expression:brain |
RGD |
PMID:7507064 |
RGD:9693700 |
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
|
|
G |
Pah |
phenylalanine hydroxylase |
|
ISO ISS |
DNA:missense mutation:cds:p.R408W (human) DNA:missense mutation:exon:p.G46S (c.136G>A) (human) ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria CTD Direct Evidence: marker/mechanism OMIM:261600 ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria |
OMIM ClinVar CTD MouseDO RGD |
PMID:1146119 PMID:1301187 PMID:1301193 PMID:1301200 PMID:1301201 PMID:1301202 PMID:1301947 PMID:1307609 PMID:1312992 PMID:1349566 PMID:1349576 PMID:1355066 PMID:1358789 PMID:1360590 PMID:1363786 PMID:1363837 PMID:1363838 PMID:1555700 PMID:1601425 PMID:1609797 PMID:1639423 PMID:1671768 PMID:1671770 PMID:1671810 PMID:1671881 PMID:1672290 PMID:1672294 PMID:1679030 PMID:1682234 PMID:1682235 PMID:1682495 PMID:1769645 PMID:1968617 PMID:1971144 PMID:1971147 PMID:1975096 PMID:1975559 PMID:1978553 PMID:1981599 PMID:1997387 PMID:1998345 PMID:2006152 PMID:2014036 PMID:2014802 PMID:2018035 PMID:2035532 PMID:2044609 PMID:2063869 PMID:2071149 PMID:2173030 PMID:2230084 PMID:2309142 PMID:2323773 PMID:2564729 PMID:2574002 PMID:2574153 PMID:2575001 PMID:2589491 PMID:2606484 PMID:2615649 PMID:2816939 PMID:2840952 PMID:2884570 PMID:3008810 PMID:3093157 PMID:3615198 PMID:7545869 PMID:7556322 PMID:7581408 PMID:7668259 PMID:7707686 PMID:7726156 PMID:7741023 PMID:7766951 PMID:7766957 PMID:7807961 PMID:7833927 PMID:7833954 PMID:7844887 PMID:7844888 PMID:7860062 PMID:7866411 PMID:7913581 PMID:7914195 PMID:7915167 PMID:7981714 PMID:8019568 PMID:8051931 PMID:8068076 PMID:8069318 PMID:8088845 PMID:8095248 PMID:8097261 PMID:8097262 PMID:8097423 PMID:8098245 PMID:8116675 PMID:8222245 PMID:8268925 PMID:8304187 PMID:8320703 PMID:8364546 PMID:8364593 PMID:8370573 PMID:8401510 PMID:8406445 PMID:8445621 PMID:8487271 PMID:8518802 PMID:8528673 PMID:8533759 PMID:8535444 PMID:8535445 PMID:8556304 PMID:8592329 PMID:8632937 PMID:8659548 PMID:8682503 PMID:8739972 PMID:8807319 PMID:8807331 PMID:8825928 PMID:8829656 PMID:8830172 PMID:8831077 PMID:8860005 PMID:8889583 PMID:8889590 PMID:8981952 PMID:8990013 PMID:8990021 PMID:9012412 PMID:9048935 PMID:9101291 PMID:9169088 PMID:9254847 PMID:9284280 PMID:9298832 PMID:9359039 PMID:9380432 PMID:9391881 PMID:9399840 PMID:9399896 PMID:9429153 PMID:9450182 PMID:9450897 PMID:9452061 PMID:9452062 PMID:9521426 PMID:9536098 PMID:9540801 PMID:9575658 PMID:9600453 PMID:9634518 PMID:9642259 PMID:9781015 PMID:9792411 PMID:9799096 PMID:9825986 PMID:9843368 PMID:9860305 PMID:9949232 PMID:9950317 PMID:10196714 PMID:10200057 PMID:10234516 PMID:10356314 PMID:10356315 PMID:10394930 PMID:10408782 PMID:10429004 PMID:10471838 PMID:10472529 PMID:10479481 PMID:10484807 PMID:10495930 PMID:10527663 PMID:10541324 PMID:10598814 PMID:10679941 PMID:10685924 PMID:10693064 PMID:10720436 PMID:10767174 PMID:10767175 PMID:10875932 PMID:10947211 PMID:10980574 PMID:11051201 PMID:11139255 PMID:11142755 PMID:11161825 PMID:11161839 PMID:11180595 PMID:11207989 PMID:11214902 PMID:11243094 PMID:11244681 PMID:11295882 PMID:11326337 PMID:11328945 PMID:11360625 PMID:11385716 PMID:11461190 PMID:11461196 PMID:11486900 PMID:11524738 PMID:11581453 PMID:11588399 PMID:11678552 PMID:11696894 PMID:11708866 PMID:11914042 PMID:11935335 PMID:11999982 PMID:12126628 PMID:12173030 PMID:12210276 PMID:12409276 PMID:12501224 PMID:12542580 PMID:12554741 PMID:12640344 PMID:12644360 PMID:12649065 PMID:12655544 PMID:12655546 PMID:12655547 PMID:12655548 PMID:12655550 PMID:12655551 PMID:12655552 PMID:12655553 PMID:12655554 PMID:12765842 PMID:12836060 PMID:12905706 PMID:12971421 PMID:14568534 PMID:14654665 PMID:14681498 PMID:14722928 PMID:14726806 PMID:14741196 PMID:15110327 PMID:15159646 PMID:15171997 PMID:15300621 PMID:15319459 PMID:15459954 PMID:15464430 PMID:15503242 PMID:15557004 PMID:15589814 PMID:15633889 PMID:15793771 PMID:15943553 PMID:16051511 PMID:16091306 PMID:16143554 PMID:16165389 PMID:16167124 PMID:16176881 PMID:16198137 PMID:16199547 PMID:16253218 PMID:16256386 PMID:16290003 PMID:16402341 PMID:16504182 PMID:16545551 PMID:16601866 PMID:16755493 PMID:16765994 PMID:16770791 PMID:16875683 PMID:16879198 PMID:16931086 PMID:17096675 PMID:17221866 PMID:17397052 PMID:17408607 PMID:17502162 PMID:17513426 PMID:17557229 PMID:17576681 PMID:17627389 PMID:17630668 PMID:17846916 PMID:17924342 PMID:17935162 PMID:18247293 PMID:18294361 PMID:18299955 PMID:18321666 PMID:18346471 PMID:18394115 PMID:18447256 PMID:18493213 PMID:18538294 PMID:18590700 PMID:18592473 PMID:18798839 PMID:18937047 PMID:18937293 PMID:18956252 PMID:18985011 PMID:19015950 PMID:19036622 PMID:19062537 PMID:19099685 PMID:19147918 PMID:19292873 PMID:19394257 PMID:19444284 PMID:19609714 PMID:19786003 PMID:19913839 PMID:19915519 PMID:19948162 PMID:20017307 PMID:20063067 PMID:20082265 PMID:20123475 PMID:20140859 PMID:20179079 PMID:20187763 PMID:20188615 PMID:20301677 PMID:20457534 PMID:20920871 PMID:20937381 PMID:21147011 PMID:21154324 PMID:21228398 PMID:21307867 PMID:21445337 PMID:21462123 PMID:21527427 PMID:21811977 PMID:21820508 PMID:21837404 PMID:21871829 PMID:21890392 PMID:21915151 PMID:21937252 PMID:21953985 PMID:22106832 PMID:22112818 PMID:22300847 PMID:22330942 PMID:22333022 PMID:22388642 PMID:22391997 PMID:22513348 PMID:22526846 PMID:22698810 PMID:22763404 PMID:22841515 PMID:22917871 PMID:22921945 PMID:22975760 PMID:22995991 PMID:23062575 PMID:23074961 PMID:23220018 PMID:23225039 PMID:23271928 PMID:23348723 PMID:23352163 PMID:23357515 PMID:23430547 PMID:23430859 PMID:23430918 PMID:23500595 PMID:23514811 PMID:23559577 PMID:23690520 PMID:23716935 PMID:23757202 PMID:23764561 PMID:23792259 PMID:23842451 PMID:23856132 PMID:23932990 PMID:23942198 PMID:24033266 PMID:24048906 PMID:24078561 PMID:24130151 PMID:24190797 PMID:24296287 PMID:24301756 PMID:24304607 PMID:24327145 PMID:24350308 PMID:24368688 PMID:24401910 PMID:24510552 PMID:24510568 PMID:24628256 PMID:24661517 PMID:24667082 PMID:24705691 PMID:24765287 PMID:24767306 PMID:24789341 PMID:24882081 PMID:24939588 PMID:24941924 PMID:25003100 PMID:25007885 PMID:25085675 PMID:25087612 PMID:25155776 PMID:25323746 PMID:25333069 PMID:25449068 PMID:25453233 PMID:25456745 PMID:25525159 PMID:25550961 PMID:25551302 PMID:25563416 PMID:25596310 PMID:25640679 PMID:25725806 PMID:25741868 PMID:25750018 PMID:25757997 PMID:25863075 PMID:25882749 PMID:25894915 PMID:25920592 PMID:25952249 PMID:26206375 PMID:26210745 PMID:26322415 PMID:26351554 PMID:26413448 PMID:26467025 PMID:26481238 PMID:26503515 PMID:26542770 PMID:26589311 PMID:26600521 PMID:26655635 PMID:26666653 PMID:26701937 PMID:26803807 PMID:26892377 PMID:26982749 PMID:26990548 PMID:27121329 PMID:27175306 PMID:27243974 PMID:27264808 PMID:27308838 PMID:27413125 PMID:27469133 PMID:27578510 PMID:27620137 PMID:27623981 PMID:27682710 PMID:27760515 PMID:28174686 PMID:28182360 PMID:28400091 PMID:28492532 PMID:28653649 PMID:28676969 PMID:28754886 PMID:28771436 PMID:28851938 PMID:28915855 PMID:28982351 PMID:29025426 PMID:29032371 PMID:29144512 PMID:29176022 PMID:29288420 PMID:29316886 PMID:29317692 PMID:29390883 PMID:29413232 PMID:29473999 PMID:29499199 PMID:29653233 PMID:29654578 PMID:29684050 PMID:29731766 PMID:29749107 PMID:29892150 PMID:29997390 PMID:30037505 PMID:30050108 PMID:30067850 PMID:30159852 PMID:30199612 PMID:30275481 PMID:30311390 PMID:30367646 PMID:30389586 PMID:30459323 PMID:30487145 PMID:30612563 PMID:30626930 PMID:30648773 PMID:30667134 PMID:30668579 PMID:30674554 PMID:30747360 PMID:30829006 PMID:30838026 PMID:30887117 PMID:30904546 PMID:30941500 PMID:30963030 PMID:31102715 PMID:31130284 PMID:31164572 PMID:31178897 PMID:31208052 PMID:31332730 PMID:31355225 PMID:31445982 PMID:31589614 PMID:31623983 PMID:31640267 PMID:31737040 PMID:31980526 PMID:32039316 PMID:32106880 PMID:32533790 PMID:32668217 PMID:32778825 PMID:32801363 PMID:32860008 PMID:32893076 PMID:32905092 PMID:32906206 PMID:33101986 PMID:33116287 PMID:33177615 PMID:33234470 PMID:33375644 PMID:33465300 PMID:33564846 PMID:33677757 PMID:33803550 PMID:33980295 PMID:34039861 PMID:34233069 PMID:34653385 PMID:34828281 PMID:35079019 PMID:35176108 PMID:35193651 PMID:35281663 PMID:35339094 PMID:35405047 PMID:35690318 PMID:36537053 PMID:36577126 PMID:1361103 PMID:17443661 PMID:2884570 PMID:8829656 More...
|
RGD:1601521, RGD:1601523, RGD:1358249, RGD:13207451 |
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
|
|
G |
Pcbd1 |
pterin-4 alpha-carbinolamine dehydratase 1 |
|
ISO |
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia |
ClinVar |
|
|
NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292 Ensembl chr20:28,953,864...29,044,292
|
|
G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Phenylketonuria |
ClinVar |
PMID:25741868 |
|
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
|
|
G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Phenylketonuria |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
|
|
G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
|
ISO |
DNA:point mutation:exon:R25Q, R16C ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric |
ClinVar RGD |
PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 PMID:11694255 PMID:19350512 PMID:21933604 PMID:22237589 PMID:25525159 PMID:25741868 PMID:28492532 PMID:8178819 More...
|
RGD:1601576 |
NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
|
|
G |
Qdpr |
quinoid dihydropteridine reductase |
|
ISO |
quinoid dihydropteridine reductase deficiency; DNA:insertion:exon:c.390insACT CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 |
CTD ClinVar RGD |
PMID:7627180 PMID:8326489 PMID:8518287 PMID:9744478 PMID:11153907 PMID:16199547 PMID:17188538 PMID:25526675 PMID:25741868 PMID:27246466 PMID:28492532 PMID:2116088 More...
|
RGD:1601577 |
NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
|
|
G |
Tspan1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Phenylketonuria |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
|
|
|
G |
Adam30 |
ADAM metallopeptidase domain 30 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599
|
|
G |
Hao2 |
hydroxyacid oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
|
NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
|
|
G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
|
|
G |
Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
|
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
|
|
G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
|
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
|
|
G |
Notch2 |
notch receptor 2 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
|
|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:22886422 PMID:24836451 PMID:25152457 PMID:25741868 PMID:25913727 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28440900 PMID:28492532 PMID:28903583 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:31847883 PMID:32404165 PMID:32579715 PMID:33087887 PMID:33565074 PMID:33726816 PMID:33758422 PMID:34055682 PMID:36308023 More...
|
|
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
|
|
G |
Reg4 |
regenerating family member 4 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353
|
|
G |
Tbx15 |
T-box transcription factor 15 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
|
NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663
|
|
G |
Wars2 |
tryptophanyl tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
|
NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
|
|
G |
Zfp697 |
zinc finger protein 697 |
|
ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
|
NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041
|
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
|
RGD |
PMID:18397875 |
RGD:12738207 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
|
|
G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO ISS |
ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive OMIM:172800 CTD Direct Evidence: marker/mechanism DNA:missense, frameshift mutations:cds: |
ClinVar MouseDO CTD OMIM RGD |
PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 PMID:1720553 PMID:7529964 PMID:9450866 PMID:9699740 PMID:10554798 PMID:11074500 PMID:11174389 PMID:11380399 PMID:15194144 PMID:16081693 PMID:16199547 PMID:16307017 PMID:17065430 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22670867 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24627108 PMID:24728327 PMID:25079768 PMID:25176472 PMID:25637381 PMID:25741868 PMID:25975190 PMID:26158763 PMID:27023146 PMID:27214377 PMID:27258816 PMID:28492532 PMID:28724667 PMID:30019023 PMID:31350202 PMID:31775759 PMID:32220041 PMID:34008892 PMID:1717985 PMID:1370874 More...
|
RGD:1600045, RGD:12910729 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
|
|
G |
Snai2 |
snail family transcriptional repressor 2 |
susceptibility |
ISO |
DNA:deletions ClinVar Annotator: match by term: Partial albinism |
ClinVar RGD |
PMID:12444107 PMID:12955764 PMID:24033266 PMID:28492532 PMID:30936914 PMID:32975012 PMID:12444107 More...
|
RGD:1600041 |
NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
|
|
|
G |
Pepd |
peptidase D |
|
ISO |
ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 PMID:8198124 PMID:8900231 PMID:9536098 PMID:10721675 PMID:12384772 PMID:15309682 PMID:16199547 PMID:16470701 PMID:17142620 PMID:17576681 PMID:19308961 PMID:23516557 PMID:24033266 PMID:25460580 PMID:25741868 PMID:27067078 PMID:28062424 PMID:28492532 PMID:29943458 PMID:33877262 More...
|
|
NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
|
|
|
G |
Bivm |
basic, immunoglobulin-like variable motif containing |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
|
|
G |
Ccdc168 |
coiled-coil domain containing 168 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
|
|
G |
Clybl |
citramalyl-CoA lyase |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
|
|
G |
Ercc5 |
ERCC excision repair 5, endonuclease |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
|
|
G |
Fgf14 |
fibroblast growth factor 14 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
|
|
G |
Ggact |
gamma-glutamylamine cyclotransferase |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:15464417 PMID:19157943 PMID:22033733 PMID:28492532 |
|
NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
|
|
G |
Itgbl1 |
integrin subunit beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
|
|
G |
Mettl21c |
methyltransferase 21C, AARS1 lysine |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
|
|
G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
|
|
G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
|
ISO ISS |
ClinVar Annotator: match by term: Propionic acidemia OMIM:606054 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 PMID:9536098 PMID:9887338 PMID:10101253 PMID:10329019 PMID:10518292 PMID:10780784 PMID:11592820 PMID:12385775 PMID:12559849 PMID:14960587 PMID:15059621 PMID:15164333 PMID:15235904 PMID:15464417 PMID:16023992 PMID:16199547 PMID:17051315 PMID:17576681 PMID:18414145 PMID:18790721 PMID:19099776 PMID:19157943 PMID:20493181 PMID:20549364 PMID:20725044 PMID:21094621 PMID:22033733 PMID:22156789 PMID:22334403 PMID:22593918 PMID:23053474 PMID:23348723 PMID:23430860 PMID:23648696 PMID:23757202 PMID:24033266 PMID:24059531 PMID:24464666 PMID:24863100 PMID:25047749 PMID:25636094 PMID:25640679 PMID:25741868 PMID:26740382 PMID:27227689 PMID:27489777 PMID:27776753 PMID:27825584 PMID:27900673 PMID:28492532 PMID:28712602 PMID:29033250 PMID:29978829 PMID:30159853 PMID:30186825 PMID:30209273 PMID:30274917 PMID:30705822 PMID:31063319 PMID:31249402 PMID:31319225 PMID:31757659 PMID:31828787 PMID:31893529 PMID:31916709 PMID:32252659 PMID:32619257 PMID:32778825 PMID:32819290 PMID:33028371 PMID:33473339 PMID:33726816 PMID:33923806 PMID:35095998 PMID:35331292 PMID:36662638 More...
|
|
NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
|
|
G |
Pccb |
propionyl-CoA carboxylase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 PMID:8852656 PMID:9452096 PMID:9536098 PMID:9683601 PMID:10447268 PMID:10502773 PMID:10780784 PMID:10820128 PMID:10910839 PMID:11136555 PMID:11749052 PMID:12007220 PMID:12189489 PMID:12409268 PMID:12559849 PMID:12757933 PMID:12888983 PMID:15059621 PMID:15235904 PMID:15464417 PMID:15890657 PMID:15949719 PMID:16199547 PMID:17051315 PMID:17415538 PMID:17576681 PMID:17966092 PMID:18599334 PMID:19099776 PMID:19238581 PMID:19342984 PMID:20549364 PMID:20725044 PMID:21125326 PMID:22033733 PMID:22156789 PMID:22334403 PMID:22593918 PMID:22863191 PMID:23053474 PMID:23430860 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24863100 PMID:24916042 PMID:25047749 PMID:25087612 PMID:25636094 PMID:25741868 PMID:25741895 PMID:25851414 PMID:25865301 PMID:26467025 PMID:26589311 PMID:26830710 PMID:27089410 PMID:27227689 PMID:27243974 PMID:27578510 PMID:27776753 PMID:27825584 PMID:27896094 PMID:27900673 PMID:28492532 PMID:28649556 PMID:28853722 PMID:29033250 PMID:29247206 PMID:29679984 PMID:30013935 PMID:30274917 PMID:30705822 PMID:31249402 PMID:31757659 PMID:31808324 PMID:31916709 PMID:32252659 PMID:32778825 PMID:32860008 PMID:33028371 PMID:33473339 PMID:33587123 PMID:33725819 PMID:33798502 PMID:33923806 PMID:33981581 PMID:34006296 PMID:34670123 PMID:35132093 PMID:35189944 PMID:35296328 PMID:35331292 More...
|
|
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
|
|
G |
Poglut2 |
protein O-glucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
|
|
G |
Slc10a2 |
solute carrier family 10 member 2 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
|
|
G |
Tex30 |
testis expressed 30 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249
|
|
G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
|
|
G |
Tmtc4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
|
|
G |
Tpp2 |
tripeptidyl peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
|
|
G |
Ubac2 |
UBA domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
|
|
G |
Uqcrfs1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:31883641 |
|
NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
|
|
G |
Zic2 |
Zic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
|
|
G |
Zic5 |
Zic family member 5 |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
|
NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035
|
|
|
G |
Psat1 |
phosphoserine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: PSAT deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29269105 PMID:32077105 PMID:34077496 PMID:34089226 More...
|
|
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
|
|
|
G |
Cct6a |
chaperonin containing TCP1 subunit 6A |
|
ISO |
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,872,736...26,883,125
Ensembl chr12:26,872,574...26,883,337
|
|
G |
Chchd2 |
coiled-coil-helix-coiled-coil-helix domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755
|
|
G |
Phkg1 |
phosphorylase kinase catalytic subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,838,822...26,854,547
Ensembl chr12:26,838,968...26,852,850
|
|
G |
Psph |
phosphoserine phosphatase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency |
OMIM CTD ClinVar |
PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 PMID:24146633 PMID:25080166 PMID:25741868 PMID:26589312 PMID:26633542 PMID:28492532 PMID:31515488 More...
|
|
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
|
|
G |
Sumf2 |
sulfatase modifying factor 2 |
|
ISO |
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
|
|
|
G |
Aass |
aminoadipate-semialdehyde synthase |
|
ISO |
ClinVar Annotator: match by term: Saccharopinuria |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
|
|
|
G |
Sardh |
sarcosine dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of |
OMIM CTD ClinVar |
PMID:22825317 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
|
|
|
G |
Myef2 |
myelin expression factor 2 |
|
ISO |
ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 |
ClinVar |
PMID:23010199 PMID:25741868 |
|
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
|
|
G |
Slc24a5 |
solute carrier family 24 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 |
CTD ClinVar |
PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 |
|
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
|
|
|
G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 PMID:11544478 PMID:11901270 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:16199547 PMID:16442322 PMID:16542398 PMID:16545979 PMID:17438226 PMID:17576681 PMID:19300440 PMID:19484191 PMID:20018576 PMID:20304328 PMID:21612881 PMID:22437753 PMID:23430864 PMID:23825041 PMID:23926001 PMID:24033266 PMID:25122112 PMID:25246302 PMID:25363768 PMID:25431891 PMID:25558043 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26268900 PMID:26964512 PMID:27056292 PMID:27104484 PMID:27117035 PMID:27815844 PMID:27824329 PMID:27896081 PMID:28186584 PMID:28191889 PMID:28407358 PMID:28468868 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:30091983 PMID:30829465 PMID:31117962 PMID:31267348 PMID:32005694 PMID:32093054 PMID:32223457 PMID:32238909 PMID:32348839 PMID:32395407 PMID:32402538 PMID:32887777 PMID:32907636 PMID:33203024 PMID:34882073 More...
|
|
NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
|
|
G |
Dcdc2 |
doublecortin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
|
|
G |
Gpld1 |
glycosylphosphatidylinositol specific phospholipase D1 |
|
ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 PMID:27104484 PMID:28492532 PMID:30091983 PMID:31267348 PMID:32402538 PMID:33203024 PMID:34882073 More...
|
|
NCBI chr17:40,084,427...40,132,035
Ensembl chr17:40,084,617...40,126,939
|
|
G |
Mrs2 |
magnesium transporter MRS2 |
|
ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887
|
|
|
G |
Acsl6 |
acyl-CoA synthetase long-chain family member 6 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
|
|
G |
Cdc42se2 |
CDC42 small effector 2 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,836,549...38,905,056
Ensembl chr10:38,836,555...38,905,059 Ensembl chr 1:38,836,555...38,905,059
|
|
G |
Csf2 |
colony stimulating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
|
|
G |
Fnip1 |
folliculin interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824
|
|
G |
Hint1 |
histidine triad nucleotide binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568
|
|
G |
Il3 |
interleukin 3 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
|
|
G |
Lyrm7 |
LYR motif containing 7 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,964,299...38,983,628
Ensembl chr10:38,964,311...38,983,601
|
|
G |
P4ha2 |
prolyl 4-hydroxylase subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:20574985 PMID:28492532 |
|
NCBI chr10:38,243,136...38,271,983
Ensembl chr10:38,243,139...38,287,314
|
|
G |
Pdlim4 |
PDZ and LIM domain 4 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:20574985 PMID:28492532 |
|
NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
|
|
G |
Rapgef6 |
Rap guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
|
NCBI chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211
|
|
G |
Rnf167 |
ring finger protein 167 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
|
|
NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
|
|
G |
Slc22a4 |
solute carrier family 22 member 4 |
|
ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:20574985 PMID:28492532 |
|
NCBI chr10:38,133,333...38,179,932
Ensembl chr10:38,133,322...38,179,720
|
|
G |
Slc22a5 |
solute carrier family 22 member 5 |
|
ISO ISS |
DNA:missense mutations:cds:p.S28I, p.Y447C (human) ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect OMIM:212140 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 PMID:9536098 PMID:9634512 PMID:9700600 PMID:9700603 PMID:9826541 PMID:9916797 PMID:10051646 PMID:10072434 PMID:10425211 PMID:10454528 PMID:10480371 PMID:10545605 PMID:10559218 PMID:10612840 PMID:10679939 PMID:11058897 PMID:11715001 PMID:12183691 PMID:12204000 PMID:12210323 PMID:12408185 PMID:12409266 PMID:14506273 PMID:14605509 PMID:14665638 PMID:15303004 PMID:15523054 PMID:15617188 PMID:15714519 PMID:16199547 PMID:16602102 PMID:16652335 PMID:16830263 PMID:16931768 PMID:17126586 PMID:17486650 PMID:17576681 PMID:17594400 PMID:17703373 PMID:18337137 PMID:18673259 PMID:19141711 PMID:19208393 PMID:19238580 PMID:19419416 PMID:20027113 PMID:20074989 PMID:20208395 PMID:20574985 PMID:21126579 PMID:21864509 PMID:21922592 PMID:22116472 PMID:22494076 PMID:22989098 PMID:23090741 PMID:23379544 PMID:23430798 PMID:23430858 PMID:23430869 PMID:23520115 PMID:23653224 PMID:23757202 PMID:23798014 PMID:23963628 PMID:24033266 PMID:24516753 PMID:24517888 PMID:24746540 PMID:24997454 PMID:25087612 PMID:25132046 PMID:25224063 PMID:25326637 PMID:25525159 PMID:25665836 PMID:25741868 PMID:25846890 PMID:25961151 PMID:26075114 PMID:26190315 PMID:26252091 PMID:26350513 PMID:26633542 PMID:26828774 PMID:26990548 PMID:27181684 PMID:27320645 PMID:27581592 PMID:27629047 PMID:27650965 PMID:27896095 PMID:27931018 PMID:28074886 PMID:28492532 PMID:28554332 PMID:28711408 PMID:28753539 PMID:28841266 PMID:28857146 PMID:29132460 PMID:29165669 PMID:29750726 PMID:29790872 PMID:30609409 PMID:30626930 PMID:30838026 PMID:30863740 PMID:30904546 PMID:31187905 PMID:31200524 PMID:31364285 PMID:31737040 PMID:31813139 PMID:31864849 PMID:31980526 PMID:32371215 PMID:32371413 PMID:32778825 PMID:32793418 PMID:32870709 PMID:33181153 PMID:33560599 PMID:33757571 PMID:34032155 PMID:34178604 PMID:34249102 PMID:34394177 PMID:34440436 PMID:34637945 PMID:34704412 PMID:34863234 PMID:35095998 PMID:35193651 PMID:35281663 PMID:35888728 PMID:36109795 PMID:36321377 PMID:36343260 PMID:36636599 PMID:12408185 More...
|
RGD:1580611 |
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
|
|
|
G |
Mitf |
melanocyte inducing transcription factor |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tietz albinism-deafness syndrome | ClinVar Annotator: match by term: Tietz syndrome OMIM:103500 |
CTD ClinVar OMIM MouseDO |
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 PMID:10587587 PMID:10851256 PMID:13985019 PMID:16199547 PMID:17318840 PMID:17576681 PMID:20127975 PMID:21373256 PMID:22012259 PMID:22080950 PMID:22158021 PMID:22258527 PMID:23167872 PMID:23512835 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24194866 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24638154 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25943250 PMID:25975176 PMID:26103950 PMID:26467025 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26850479 PMID:26999813 PMID:27153395 PMID:27349893 PMID:27473757 PMID:27680874 PMID:27759048 PMID:27889061 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28690485 PMID:28825054 PMID:29115496 PMID:29484430 PMID:29506128 PMID:29625052 PMID:29706638 PMID:30117279 PMID:30311386 PMID:30414346 PMID:30549420 PMID:30936914 PMID:31213145 PMID:31427586 PMID:31465090 PMID:31898538 PMID:32054529 PMID:32728090 PMID:33051548 PMID:33240314 PMID:34142234 PMID:34289891 PMID:34662886 PMID:34997062 PMID:35802133 PMID:36451132 PMID:36633841 More...
|
|
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
|
|
|
G |
Fah |
fumarylacetoacetate hydrolase |
|
ISO |
ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8028615 PMID:8076937 PMID:8318997 PMID:8557261 PMID:8821854 PMID:8829657 PMID:9101289 PMID:9536098 PMID:9633815 PMID:9705236 PMID:11278491 PMID:11754109 PMID:12203990 PMID:12899938 PMID:14691918 PMID:15638932 PMID:17576681 PMID:20301688 PMID:21752152 PMID:22554029 PMID:22975760 PMID:23193487 PMID:23430822 PMID:23895425 PMID:24033266 PMID:25081276 PMID:25087612 PMID:25525159 PMID:25681080 PMID:25741868 PMID:26565546 PMID:27814443 PMID:28492532 PMID:28755192 PMID:29326876 PMID:29497141 PMID:30414057 PMID:31300554 PMID:306090409 PMID:11209059 More...
|
RGD:737743 |
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
|
|
G |
Hpd |
4-hydroxyphenylpyruvate dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Hypertyrosinemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
|
|
NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
|
|
G |
Tat |
tyrosine aminotransferase |
susceptibility |
ISO |
DNA:point mutations CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertyrosinemia |
CTD ClinVar RGD |
PMID:1357662 |
RGD:1600125 |
NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
|
|
|
G |
Abhd17c |
abhydrolase domain containing 17C, depalmitoylase |
|
ISO |
ClinVar Annotator: match by term: Tyrosinemia type I |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595
|
|
G |
Arnt2 |
aryl hydrocarbon receptor nuclear translocator 2 |
|
ISO |
ClinVar Annotator: match by term: Tyrosinemia type I |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
|
|
G |
Cemip |
cell migration inducing hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Tyrosinemia type I |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415
|
|
G |
Fah |
fumarylacetoacetate hydrolase |
treatment |
ISO ISS IMP |
ClinVar Annotator: match by term: Tyrosinemia type I OMIM:276700 associated with liver disease;DNA:missense mutation:cds:p.R142G (human) |
OMIM ClinVar MouseDO RGD |
PMID:1401056 PMID:7550234 PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8005583 PMID:8028615 PMID:8076937 PMID:8162054 PMID:8204664 PMID:8318997 PMID:8364576 PMID:8557261 PMID:8723690 PMID:8723698 PMID:8821854 PMID:8829657 PMID:9101289 PMID:9536098 PMID:9633815 PMID:9705236 PMID:10073910 PMID:10508789 PMID:11196105 PMID:11278491 PMID:11476670 PMID:11754109 PMID:12203990 PMID:12555948 PMID:14691918 PMID:15187789 PMID:15465000 PMID:15638932 PMID:16199547 PMID:16521249 PMID:17576681 PMID:19569981 PMID:19763152 PMID:20301688 PMID:20307669 PMID:21117323 PMID:21752152 PMID:21764616 PMID:22145516 PMID:22406018 PMID:22554029 PMID:22802474 PMID:22884142 PMID:22975760 PMID:23000314 PMID:23193487 PMID:23225041 PMID:23348723 PMID:23430822 PMID:23430836 PMID:23895425 PMID:23927806 PMID:24016420 PMID:24033266 PMID:24516753 PMID:24555242 PMID:24756054 PMID:25081276 PMID:25087612 PMID:25256450 PMID:25525159 PMID:25564536 PMID:25681080 PMID:25741868 PMID:26565546 PMID:27093575 PMID:27397503 PMID:27814443 PMID:28039895 PMID:28468868 PMID:28492532 PMID:28755182 PMID:28755192 PMID:29326876 PMID:29497141 PMID:30414057 PMID:30581635 PMID:30954369 PMID:31030436 PMID:31300554 PMID:31568711 PMID:31965297 PMID:31998365 PMID:32832707 PMID:33083013 PMID:34023347 PMID:35800472 PMID:306090409 PMID:30368954 PMID:27397503 PMID:29507093 PMID:27510266 More...
|
RGD:14401588, RGD:14401587, RGD:14398827, RGD:14398823 |
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
|
|
G |
Fahem10Dlli-/- |
fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli |
|
IMP |
by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water |
RGD |
PMID:29507093 |
RGD:14398827 |
|
|
G |
Fahem15Dlli-/- |
fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli |
|
IMP |
by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water. |
RGD |
PMID:27510266 |
RGD:14398823 |
|
|
G |
Mesd |
mesoderm development LRP chaperone |
|
ISO |
ClinVar Annotator: match by term: Tyrosinemia type I |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999
|
|
G |
Zfand6 |
zinc finger AN1-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Tyrosinemia type I |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939
|
|
|
G |
Tat |
tyrosine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Tyrosinemia type II |
OMIM ClinVar |
PMID:1357662 PMID:9536098 PMID:9544843 PMID:16199547 PMID:16917729 PMID:17576681 PMID:18577048 PMID:21145993 PMID:25741868 PMID:25784227 PMID:27285949 PMID:27832414 PMID:28255985 PMID:28492532 PMID:31737040 PMID:36246604 More...
|
|
NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
|
|
|
G |
Hpd |
4-hydroxyphenylpyruvate dioxygenase |
|
ISO ISS |
ClinVar Annotator: match by term: Tyrosinemia type III OMIM:276710 |
OMIM ClinVar MouseDO |
PMID:9343288 PMID:10942115 PMID:17560158 PMID:19630565 PMID:23036342 PMID:25255367 PMID:25741868 PMID:28492532 PMID:28649543 PMID:31028937 PMID:31069529 PMID:31589614 PMID:32109208 PMID:32520295 More...
|
|
NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
|
|
|
G |
Uroc1 |
urocanate hydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Urocanate hydratase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:19304569 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
|
|
|
G |
Kynu |
kynureninase |
|
ISO |
ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 |
OMIM ClinVar |
PMID:11204305 PMID:17334708 PMID:22012986 PMID:25741868 PMID:28492532 PMID:28792876 PMID:31923704 PMID:33942433 PMID:34200361 More...
|
|
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
|
|