|
G
|
Acss2
|
acyl-CoA synthetase short-chain family member 2
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:164,464,055...164,519,830
|
|
G
|
Actl10
|
actin-like 10
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:143,057,061...143,058,561
Ensembl chr 3:163,516,855...163,520,048
|
|
G
|
Ahcy
|
adenosylhomocysteinase
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,029,338...164,044,562
Ensembl chr 3:164,029,338...164,044,587
|
|
G
|
Asip
|
agouti signaling protein
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:164,015,903...164,021,378
|
|
G
|
Bpifa1
|
BPI fold containing family A, member 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,087,965...163,093,708
Ensembl chr 3:163,087,965...163,093,708
|
|
G
|
Bpifa2
|
BPI fold containing family A, member 2
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:162,953,538...162,961,497
Ensembl chr 3:162,953,538...162,961,496
|
|
G
|
Bpifa3
|
BPI fold containing family A, member 3
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:142,609,748...142,619,703
Ensembl chr 3:163,069,925...163,079,856
|
|
G
|
Bpifb1
|
BPI fold containing family B, member 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,133,151...163,166,420
Ensembl chr 3:163,133,151...163,166,419
|
|
G
|
Bpifb2
|
BPI fold containing family B, member 2
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:142,356,990...142,377,053
Ensembl chr 3:162,818,223...162,837,210
|
|
G
|
Bpifb3
|
BPI fold containing family B, member 3
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:142,401,068...142,415,684
Ensembl chr 3:162,861,234...162,875,850
|
|
G
|
Bpifb4
|
BPI fold containing family B, member 4
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:142,423,571...142,448,044
Ensembl chr 3:162,881,437...162,908,207
|
|
G
|
Bpifb6
|
BPI fold containing family B, member 6
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:162,841,640...162,855,471
Ensembl chr 3:162,841,644...162,855,470
|
|
G
|
C3h20orf144
|
similar to human chromosome 20 open reading frame 144
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:143,053,971...143,055,327
Ensembl chr 3:163,514,344...163,515,481
|
|
G
|
C3h20orf173
|
similar to human chromosome 20 open reading frame 173
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:144,514,060...144,524,979
Ensembl chr 3:164,980,014...164,985,029
|
|
G
|
Cbfa2t2
|
CBFA2/RUNX1 partner transcriptional co-repressor 2
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,397,160...163,503,409
Ensembl chr 3:163,397,185...163,503,407
|
|
G
|
Cdk5rap1
|
CDK5 regulatory subunit associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:142,838,081...142,872,669
Ensembl chr 3:163,191,056...163,332,908
|
|
G
|
Cep250
|
centrosomal protein 250
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210
|
|
G
|
Chmp4b
|
charged multivesicular body protein 4B
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,631,054...163,671,569
Ensembl chr 3:163,631,054...163,671,569
|
|
G
|
Cpne1
|
copine 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:165,047,615...165,089,994
|
|
G
|
Dnmt3b
|
DNA methyltransferase 3 beta
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313
|
|
G
|
Dynlrb1
|
dynein light chain roadblock-type 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,197,892...164,224,409
Ensembl chr 3:164,202,953...164,224,409
|
|
G
|
E2f1
|
E2F transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
|
|
G
|
Edem2
|
ER degradation enhancing alpha-mannosidase like protein 2
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:144,201,604...144,227,423
Ensembl chr 3:164,661,742...164,687,559
|
|
G
|
Efcab8
|
EF-hand calcium binding domain 8
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:142,257,195...142,323,743
Ensembl chr 3:162,717,494...162,783,899
|
|
G
|
Eif2s2
|
eukaryotic translation initiation factor 2 subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,834,846...163,855,733
Ensembl chr 3:163,834,851...163,855,570
|
|
G
|
Eif6
|
eukaryotic translation initiation factor 6
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,785,162...164,791,410
Ensembl chr 3:164,785,163...164,791,525
|
|
G
|
Ergic3
|
ERGIC and golgi 3
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,985,108...164,994,897
Ensembl chr 3:164,984,853...164,994,897
|
|
G
|
Fam83c
|
family with sequence similarity 83, member C
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,792,258...164,799,882
Ensembl chr 3:164,793,105...164,799,995
|
|
G
|
Gdf5
|
growth differentiation factor 5
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
|
|
G
|
Ggt7
|
gamma-glutamyltransferase 7
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,438,240...164,464,059
Ensembl chr 3:164,437,812...164,463,068
|
|
G
|
Gss
|
glutathione synthetase
|
|
ISO
|
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Inherited glutathione synthetase deficiency | ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple (human)
|
ClinVar CTD RGD |
PMID:5476481 PMID:8896573 PMID:9215686 PMID:9536098 PMID:10369661 PMID:10861239 PMID:11167850 PMID:11445798 PMID:12638941 PMID:14635114 PMID:15056072 PMID:15717202 PMID:16199547 PMID:17479648 PMID:17576681 PMID:19728142 PMID:20981092 PMID:25741868 PMID:25851806 PMID:26669244 PMID:28267090 PMID:28492532 PMID:28822442 PMID:30581542 PMID:31198081 PMID:33587123 PMID:9215686 PMID:8896573 More...
|
RGD:1302516, RGD:1599324 |
NCBI chr 3:164,508,005...164,538,343
Ensembl chr 3:164,508,005...164,538,306
|
|
G
|
Itch
|
itchy E3 ubiquitin protein ligase
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,102,490...164,193,932
Ensembl chr 3:164,105,812...164,193,932
|
|
G
|
Map1lc3a
|
microtubule-associated protein 1 light chain 3 alpha
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:164,243,093...164,244,850
|
|
G
|
Mapre1
|
microtubule-associated protein, RP/EB family, member 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:162,679,020...162,707,167
Ensembl chr 3:162,673,195...162,711,210
|
|
G
|
Mir499a
|
microRNA 499a
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,570,612...164,570,676
Ensembl chr 3:164,570,612...164,570,676
|
|
G
|
Mmp24
|
matrix metallopeptidase 24
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,739,226...164,783,696
Ensembl chr 3:164,739,226...164,783,696
|
|
G
|
Myh7b
|
myosin heavy chain 7B
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,537,211...164,582,441
Ensembl chr 3:164,558,340...164,582,094
|
|
G
|
Ncoa6
|
nuclear receptor coactivator 6
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,351,062...164,422,079
Ensembl chr 3:164,351,062...164,421,991
|
|
G
|
Nfs1
|
NFS1 cysteine desulfurase
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:165,097,390...165,119,730
Ensembl chr 3:165,097,391...165,119,737
|
|
G
|
Pigu
|
phosphatidylinositol glycan anchor biosynthesis, class U
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,245,011...164,341,444
Ensembl chr 3:164,245,011...164,341,912
|
|
G
|
Procr
|
protein C receptor
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,714,727...164,718,994
Ensembl chr 3:164,711,636...164,718,989
|
|
G
|
Pxmp4
|
peroxisomal membrane protein 4
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,553,582...163,570,829
Ensembl chr 3:163,553,599...163,570,829
|
|
G
|
Raly
|
RALY heterogeneous nuclear ribonucleoprotein
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,766,183...163,830,726
Ensembl chr 3:163,766,478...163,830,740
|
|
G
|
Rbm12
|
RNA binding motif protein 12
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:165,069,744...165,089,994
Ensembl chr 3:165,042,878...165,090,021
|
|
G
|
Snta1
|
syntrophin, alpha 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
|
|
G
|
Spag4
|
sperm associated antigen 4
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:165,040,682...165,047,963
Ensembl chr 3:165,041,134...165,045,519
|
|
G
|
Sun5
|
Sad1 and UNC84 domain containing 5
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:162,795,096...162,815,521
Ensembl chr 3:162,795,096...162,815,521
|
|
G
|
Tp53inp2
|
tumor protein p53 inducible nuclear protein 2
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,341,618...164,350,270
Ensembl chr 3:164,343,205...164,350,225
|
|
G
|
Trpc4ap
|
transient receptor potential cation channel, subfamily C, member 4 associated protein
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,582,146...164,653,123
Ensembl chr 3:164,582,146...164,653,123
|
|
G
|
Uqcc1
|
ubiquinol-cytochrome c reductase complex assembly factor 1
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,813,398...164,905,892
Ensembl chr 3:164,814,424...164,905,778
|
|
G
|
Zfp341
|
zinc finger protein 341
|
|
ISO
|
ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,582,937...163,616,448
Ensembl chr 3:163,579,298...163,616,446
|
|
|
G
|
Gss
|
glutathione synthetase
|
|
ISO
|
ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria
|
OMIM ClinVar |
PMID:5476481 PMID:8896573 PMID:9215686 PMID:10369661 PMID:10861239 PMID:11167850 PMID:11445798 PMID:12638941 PMID:15056072 PMID:15717202 PMID:25741868 PMID:25851806 PMID:26669244 PMID:28267090 PMID:28492532 PMID:30581542 PMID:31198081 More...
|
|
NCBI chr 3:164,508,005...164,538,343
Ensembl chr 3:164,508,005...164,538,306
|
|
|
G
|
Acss2
|
acyl-CoA synthetase short-chain family member 2
|
|
ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:164,464,055...164,519,830
|
|
G
|
Actl10
|
actin-like 10
|
|
ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:143,057,061...143,058,561
Ensembl chr 3:163,516,855...163,520,048
|
|
G
|
Ahcy
|
adenosylhomocysteinase
|
|
ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:164,029,338...164,044,562
Ensembl chr 3:164,029,338...164,044,587
|
|
G
|
Asip
|
agouti signaling protein
|
|
ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:164,015,903...164,021,378
|
|
G
|
Bpifa1
|
BPI fold containing family A, member 1
|
|
ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,087,965...163,093,708
Ensembl chr 3:163,087,965...163,093,708
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G
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Bpifa2
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BPI fold containing family A, member 2
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:162,953,538...162,961,497
Ensembl chr 3:162,953,538...162,961,496
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G
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Bpifa3
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BPI fold containing family A, member 3
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:142,609,748...142,619,703
Ensembl chr 3:163,069,925...163,079,856
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G
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Bpifb1
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BPI fold containing family B, member 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,133,151...163,166,420
Ensembl chr 3:163,133,151...163,166,419
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G
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Bpifb2
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BPI fold containing family B, member 2
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:142,356,990...142,377,053
Ensembl chr 3:162,818,223...162,837,210
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G
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Bpifb3
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BPI fold containing family B, member 3
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:142,401,068...142,415,684
Ensembl chr 3:162,861,234...162,875,850
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G
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Bpifb4
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BPI fold containing family B, member 4
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:142,423,571...142,448,044
Ensembl chr 3:162,881,437...162,908,207
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G
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Bpifb6
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BPI fold containing family B, member 6
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:162,841,640...162,855,471
Ensembl chr 3:162,841,644...162,855,470
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G
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C3h20orf144
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similar to human chromosome 20 open reading frame 144
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:143,053,971...143,055,327
Ensembl chr 3:163,514,344...163,515,481
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G
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C3h20orf173
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similar to human chromosome 20 open reading frame 173
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:144,514,060...144,524,979
Ensembl chr 3:164,980,014...164,985,029
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G
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Cbfa2t2
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CBFA2/RUNX1 partner transcriptional co-repressor 2
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,397,160...163,503,409
Ensembl chr 3:163,397,185...163,503,407
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G
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Cdk5rap1
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CDK5 regulatory subunit associated protein 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:142,838,081...142,872,669
Ensembl chr 3:163,191,056...163,332,908
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G
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Cep250
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centrosomal protein 250
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210
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G
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Chmp4b
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charged multivesicular body protein 4B
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,631,054...163,671,569
Ensembl chr 3:163,631,054...163,671,569
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G
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Cpne1
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copine 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:165,047,615...165,089,994
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G
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Dnmt3b
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DNA methyltransferase 3 beta
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313
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G
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Dynlrb1
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dynein light chain roadblock-type 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,197,892...164,224,409
Ensembl chr 3:164,202,953...164,224,409
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G
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E2f1
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E2F transcription factor 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
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G
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Edem2
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ER degradation enhancing alpha-mannosidase like protein 2
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:144,201,604...144,227,423
Ensembl chr 3:164,661,742...164,687,559
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G
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Efcab8
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EF-hand calcium binding domain 8
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:142,257,195...142,323,743
Ensembl chr 3:162,717,494...162,783,899
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G
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Eif2s2
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eukaryotic translation initiation factor 2 subunit beta
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,834,846...163,855,733
Ensembl chr 3:163,834,851...163,855,570
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G
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Eif6
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eukaryotic translation initiation factor 6
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,785,162...164,791,410
Ensembl chr 3:164,785,163...164,791,525
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G
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Ergic3
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ERGIC and golgi 3
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,985,108...164,994,897
Ensembl chr 3:164,984,853...164,994,897
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G
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Fam83c
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family with sequence similarity 83, member C
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,792,258...164,799,882
Ensembl chr 3:164,793,105...164,799,995
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G
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Gdf5
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growth differentiation factor 5
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Ggt7
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gamma-glutamyltransferase 7
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,438,240...164,464,059
Ensembl chr 3:164,437,812...164,463,068
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G
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Gss
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glutathione synthetase
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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OMIM ClinVar |
PMID:5476481 PMID:8896573 PMID:9215686 PMID:9536098 PMID:10369661 PMID:10861239 PMID:11167850 PMID:11445798 PMID:12638941 PMID:14635114 PMID:15056072 PMID:15717202 PMID:16199547 PMID:17479648 PMID:17576681 PMID:19728142 PMID:20981092 PMID:25741868 PMID:25851806 PMID:26669244 PMID:28267090 PMID:28492532 PMID:28822442 PMID:30581542 PMID:31198081 PMID:33587123 More...
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NCBI chr 3:164,508,005...164,538,343
Ensembl chr 3:164,508,005...164,538,306
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G
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Itch
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itchy E3 ubiquitin protein ligase
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,102,490...164,193,932
Ensembl chr 3:164,105,812...164,193,932
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G
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Map1lc3a
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microtubule-associated protein 1 light chain 3 alpha
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:164,243,093...164,244,850
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G
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Mapre1
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microtubule-associated protein, RP/EB family, member 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:162,679,020...162,707,167
Ensembl chr 3:162,673,195...162,711,210
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G
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Mir499a
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microRNA 499a
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,570,612...164,570,676
Ensembl chr 3:164,570,612...164,570,676
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G
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Mmp24
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matrix metallopeptidase 24
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,739,226...164,783,696
Ensembl chr 3:164,739,226...164,783,696
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G
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Myh7b
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myosin heavy chain 7B
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,537,211...164,582,441
Ensembl chr 3:164,558,340...164,582,094
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G
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Ncoa6
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nuclear receptor coactivator 6
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,351,062...164,422,079
Ensembl chr 3:164,351,062...164,421,991
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G
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Nfs1
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NFS1 cysteine desulfurase
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:165,097,390...165,119,730
Ensembl chr 3:165,097,391...165,119,737
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G
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Pigu
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phosphatidylinositol glycan anchor biosynthesis, class U
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,245,011...164,341,444
Ensembl chr 3:164,245,011...164,341,912
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G
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Procr
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protein C receptor
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,714,727...164,718,994
Ensembl chr 3:164,711,636...164,718,989
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G
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Pxmp4
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peroxisomal membrane protein 4
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,553,582...163,570,829
Ensembl chr 3:163,553,599...163,570,829
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G
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Raly
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RALY heterogeneous nuclear ribonucleoprotein
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,766,183...163,830,726
Ensembl chr 3:163,766,478...163,830,740
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G
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Rbm12
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RNA binding motif protein 12
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:165,069,744...165,089,994
Ensembl chr 3:165,042,878...165,090,021
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G
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Snta1
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syntrophin, alpha 1
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
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G
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Spag4
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sperm associated antigen 4
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ISO
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ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
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ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:165,040,682...165,047,963
Ensembl chr 3:165,041,134...165,045,519
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G
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Sun5
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Sad1 and UNC84 domain containing 5
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ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:162,795,096...162,815,521
Ensembl chr 3:162,795,096...162,815,521
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G
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Tp53inp2
|
tumor protein p53 inducible nuclear protein 2
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ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,341,618...164,350,270
Ensembl chr 3:164,343,205...164,350,225
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G
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Trpc4ap
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transient receptor potential cation channel, subfamily C, member 4 associated protein
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ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,582,146...164,653,123
Ensembl chr 3:164,582,146...164,653,123
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G
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Uqcc1
|
ubiquinol-cytochrome c reductase complex assembly factor 1
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|
ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
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NCBI chr 3:164,813,398...164,905,892
Ensembl chr 3:164,814,424...164,905,778
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G
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Zfp341
|
zinc finger protein 341
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ISO
|
ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
|
ClinVar |
PMID:12638941 PMID:15717202 PMID:28492532 |
|
NCBI chr 3:163,582,937...163,616,448
Ensembl chr 3:163,579,298...163,616,446
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