|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neu-Laxova syndrome 1 |
OMIM CTD ClinVar |
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: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 |
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 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 |
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: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
|
|