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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:amino acid metabolic disorder
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Accession:DOID:9252 term browser browse the term
Definition:Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Synonyms:exact_synonym: Amino Acid Metabolism, Inborn Error;   Amino Acid Metabolism, Inborn Errors;   Amino Acid Metabolism, Inherited Disorders;   Congenital Amino Acidopathies;   Congenital Amino Acidopathy;   Inborn Amino Acidopathies;   Inborn Amino Acidopathy;   inborn amino acid metabolism disorders;   inborn errors of amino acid metabolism;   inherited errors of amino acid metabolism
 primary_id: MESH:D000592
 alt_id: RDO:0000357
 xref: GARD:5793;   ICD10CM:E72.9;   ICD9CM:270;   NCI:C97090
For additional species annotation, visit the Alliance of Genome Resources.


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amino acid metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15024124 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10947204 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO Argininosuccinic Aciduria; DNA:mutations:multiple (human) RGD PMID:2263616 RGD:734610 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Cth cystathionine gamma-lyase ISO cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E RGD PMID:12574942 RGD:1600761 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609246 NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISS MouseDO NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion
CTD Direct Evidence: marker/mechanism
CTD PMID:15651030, PMID:8651275 RGD:1601275 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10515893 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gcsh glycine cleavage system protein H ISO protein:decreased activity:liver: RGD PMID:7070876 RGD:12904659 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency RGD PMID:8440722 RGD:1599500 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO isovaleric acidemia, OMIM:243500 RGD PMID:2063866 RGD:1600039 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:7560086 PMID:8770875 NCBI chr16:18,690,649...18,709,135
Ensembl chr16:18,690,246...18,709,133
JBrowse link
G Nags N-acetylglutamate synthase ISO N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X RGD PMID:12594532 RGD:1600560 NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT RGD PMID:9385377 RGD:1600306 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W RGD PMID:8411997 RGD:1600331 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M RGD PMID:11055895 RGD:1600412 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17412540, PMID:12217952 RGD:1599206 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Psph phosphoserine phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14673469 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Secisbp2 SECIS binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16228000 NCBI chr17:13,555,348...13,586,595
Ensembl chr17:13,555,349...13,586,554
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256, PMID:10805333 RGD:1599239, RGD:1599240 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11544277 NCBI chr15:33,013,346...33,059,733
Ensembl chr15:33,013,504...33,051,129
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9804340 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
JBrowse link
2-aminoadipic 2-oxoadipic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Aminoadipic aciduria ClinVar PMID:14612911 PMID:15087378 PMID:17721994 PMID:18571837 PMID:21244692 PMID:23960188 PMID:24390236 PMID:25186627 PMID:25231023 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26787654 PMID:27153395 PMID:27443514 PMID:27595995 PMID:27878467 PMID:28492532 PMID:28553140 PMID:28828701 PMID:29335925 PMID:30851065 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria
ClinVar Annotator: match by term: Aminoadipic aciduria
ClinVar Annotator: match by OMIM:204750
OMIM
ClinVar
PMID:23141293 PMID:25741868 PMID:25860818 PMID:26141459 PMID:28492532 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
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 PMID:15385440 PMID:15548604 PMID:21937992, PMID:24894778, PMID:25763823, PMID:26208971 RGD:13506818, RGD:13506815, RGD:13506814 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO DNA:mutations:exons:
CTD Direct Evidence: marker/mechanism
CTD PMID:23561848 RGD:13506826 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
2-Methylbutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase OMIM
ClinVar
PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 PMID:16317551 PMID:17945527 PMID:20547083 PMID:23712021 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30626930 PMID:30730842 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: HMGCL DEFICIENCY ClinVar NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase
ClinVar Annotator: match by OMIM:246450
OMIM
ClinVar
PMID:946337 PMID:7479590 PMID:8617516 PMID:8798725 PMID:9163320 PMID:9439591 PMID:9463337 PMID:9784232 PMID:10916782 PMID:11129331 PMID:11461194 PMID:12746442 PMID:14518825 PMID:15122894 PMID:15308132 PMID:15752612 PMID:16330550 PMID:16601870 PMID:17173698 PMID:17628222 PMID:17692550 PMID:19036343 PMID:19177531 PMID:19932602 PMID:22847177 PMID:23465862 PMID:25708061 PMID:25741868 PMID:28488182 PMID:28492532 PMID:28583327 PMID:28747690 PMID:30311386 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16835865 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22150417 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
ClinVar Annotator: match by OMIM:210210
OMIM
ClinVar
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16835865 PMID:17908719 PMID:17968484 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26566957 PMID:26764160 PMID:27033733 PMID:27601257 PMID:28018443 PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888 PMID:14680978 PMID:24033266 PMID:25356967 PMID:25741868 PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
3-methylglutaconic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria ClinVar PMID:25741868 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 1 OMIM
ClinVar
PMID:6181239 PMID:10070612 PMID:10626578 PMID:10896289 PMID:12434311 PMID:12655555 PMID:15033206 PMID:16354225 PMID:16640564 PMID:17130438 PMID:20855850 PMID:20882351 PMID:21840233 PMID:24598254 PMID:25741868 PMID:28492532 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 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:30311386 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927 PMID:22797137 PMID:22981120 PMID:27928778 PMID:28492532 PMID:29625556 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIII
ClinVar
OMIM
PMID:25741868 PMID:27208207 PMID:27696117 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII ClinVar PMID:27208207 NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477
JBrowse link
3-methylglutaconic aciduria type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9
ClinVar
OMIM
PMID:25741868 PMID:27573165 NCBI chr 1:85,470,810...85,480,813
Ensembl chr 1:85,470,831...85,480,407
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar
PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
PMID:16527507 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
5-Oxoprolinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: 5-Oxoprolinase deficiency
ClinVar Annotator: match by OMIM:260005
OMIM
ClinVar
PMID:21651516 PMID:23430506 PMID:25741868 PMID:27477828 PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by OMIM:614723
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency
ClinVar
OMIM
PMID:1353080 PMID:1673292 PMID:1985452 PMID:2135300 PMID:2227951 PMID:2502918 PMID:3343350 PMID:3554238 PMID:3680503 PMID:7685481 PMID:7915931 PMID:8882882 PMID:9298830 PMID:9521589 PMID:10393170 PMID:11243733 PMID:19435978 PMID:25741868 PMID:28492532 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
adenylosuccinase lyase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency
ClinVar Annotator: match by OMIM:103050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:1302001 PMID:6150139 PMID:8598641 PMID:9197470 PMID:9266401 PMID:9545543 PMID:10090474 PMID:10888601 PMID:10958654 PMID:12016589 PMID:12070256 PMID:12368987 PMID:12833398 PMID:15571235 PMID:15571240 PMID:16403972 PMID:16839792 PMID:17188615 PMID:18524658 PMID:18830228 PMID:19405474 PMID:20127976 PMID:20175147 PMID:20177786 PMID:20884265 PMID:20933180 PMID:21210713 PMID:22180458 PMID:22812634 PMID:23504561 PMID:23714113 PMID:24033266 PMID:24781210 PMID:25112391 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27504266 PMID:28487569 PMID:28492532 PMID:28559277 PMID:30311386 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
adult-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a13 solute carrier family 25 member 13 susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Citrin deficiency
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple
ClinVar
CTD
OMIM
PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16449956 PMID:17880783 PMID:18392553 PMID:18487280 PMID:19036621 PMID:19470249 PMID:20301360 PMID:20376801 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25110155 PMID:25216257 PMID:25365849 PMID:25741868 PMID:26852511 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29651749 PMID:29659898, PMID:10369257, PMID:11153906 RGD:1599241, RGD:1599242 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by OMIM:612718
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10762163 PMID:11555793 PMID:12468279 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:27233232 PMID:28492532 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250
JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382
JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:
OMIM
ClinVar
PMID:14230113 PMID:17525176 PMID:25741868 PMID:30311386 PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:9497254 PMID:9705234 PMID:15952982 PMID:17365864 PMID:20514622 PMID:25741868 PMID:26806224 PMID:28081892 PMID:28492532 PMID:30311386 PMID:31064749 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8421497 PMID:10094567 PMID:11310796 PMID:11464238 PMID:12469324 PMID:15712365 PMID:15889046 PMID:19060277 PMID:21085994 PMID:21292473 PMID:23504663 PMID:23824587 PMID:25093188 PMID:25741868 PMID:26818737 PMID:28041643 PMID:30311386 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tyr tyrosinase treatment ISO
IMP
DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism
ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:9158138 PMID:9163730 PMID:10766867 PMID:11284711 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:17952075 PMID:17999355 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18590551 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19865097 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28629449 PMID:30311386, PMID:2567165, PMID:23409244, PMID:2112453 RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
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:25741868 PMID:28041643 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
alkaptonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgd homogentisate 1, 2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuria
ClinVar Annotator: match by OMIM:203500
ClinVar
OMIM
PMID:1360590 PMID:8782815 PMID:9154114 PMID:9529363 PMID:9630082 PMID:9674916 PMID:10205262 PMID:10340975 PMID:10465119 PMID:10482952 PMID:10594001 PMID:10819641 PMID:10970188 PMID:11001939 PMID:12051967 PMID:12114497 PMID:12501223 PMID:12872815 PMID:12872836 PMID:16085442 PMID:18945288 PMID:19096913 PMID:19306858 PMID:19862842 PMID:20462779 PMID:21437689 PMID:21720873 PMID:21822197 PMID:23353776 PMID:23430897 PMID:23519186 PMID:25233259 PMID:25525159 PMID:25681086 PMID:25741868 PMID:25804398 PMID:26960557 PMID:27026014 PMID:28492532, PMID:8782815 RGD:1599472 NCBI chr11:65,983,221...66,034,555
Ensembl chr11:65,983,221...66,034,573
JBrowse link
Alpha-Ketoglutarate Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogdh oxoglutarate dehydrogenase ISO ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency OMIM
ClinVar
PMID:28492532 NCBI chr14:86,414,924...86,481,903
Ensembl chr14:86,414,949...86,613,327
JBrowse link
Aminoacylase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acy1 aminoacylase 1 ISO ClinVar Annotator: match by term: Aminoacylase 1 deficiency
ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme
ClinVar
OMIM
PMID:16274666 PMID:16465618 PMID:17562838 PMID:21414403 PMID:24117009 PMID:25741868 PMID:28492532 NCBI chr 8:115,134,792...115,140,171
Ensembl chr 8:115,134,765...115,140,080
JBrowse link
argininosuccinic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:207900
ClinVar
CTD
OMIM
PMID:203629 PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 PMID:9256435 PMID:9686346 PMID:10896281 PMID:11747432 PMID:11747433 PMID:12384776 PMID:12408190 PMID:15273245 PMID:16435180 PMID:16941645 PMID:17326097 PMID:18616627 PMID:19703900 PMID:20236848 PMID:20298553 PMID:21667091 PMID:21744316 PMID:22081021 PMID:22231378 PMID:22541557 PMID:23430928 PMID:24033266 PMID:24136197 PMID:24166829 PMID:24516753 PMID:25087612 PMID:25433810 PMID:25525159 PMID:25741868 PMID:25778938 PMID:26661037 PMID:26745957 PMID:26843370 PMID:27515243 PMID:28251416 PMID:28492532 PMID:28600779 PMID:29326055 PMID:29773863 PMID:30285816 PMID:31030429 PMID:31943503, PMID:12408190, PMID:3440446 RGD:1302509, RGD:13628399 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddc dopa decarboxylase ISO ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase OMIM
ClinVar
PMID:1357595 PMID:15079002 PMID:17240182 PMID:17533144 PMID:20505134 PMID:22143761 PMID:23321058 PMID:23430870 PMID:24865461 PMID:25001633 PMID:25741868 PMID:28492532 PMID:28856607 PMID:28973165 PMID:29851841 PMID:31104889 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by OMIM:615574
OMIM
ClinVar
PMID:24139043 PMID:25741868 PMID:25758715 PMID:27469131 PMID:27522229 PMID:28492532 PMID:28776279 PMID:29375865 PMID:29405484 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:18060825 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Barth syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar PMID:11238270 PMID:15793838 PMID:19396829 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:58,052,786...58,063,227
Ensembl chr 4:58,053,041...58,063,138
JBrowse link
G Taz tafazzin ISO 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: Barth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:302060
OMIM
ClinVar
CTD
PMID:1719174 PMID:1998334 PMID:4685904 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:15098233 PMID:15793838 PMID:16385454 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24887148 PMID:25185984 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:31333075 PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
Beta-Aminoisobutyric Acid, Urinary Excretion of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: HYPER-BETA-AMINOISOBUTYRIC ACIDURIA ClinVar
OMIM
PMID:21572414 NCBI chr 2:60,337,667...60,379,144
Ensembl chr 2:60,337,667...60,379,420
JBrowse link
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency
ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
ClinVar Annotator: match by OMIM:250620
OMIM
ClinVar
PMID:7122152 PMID:17160907 PMID:21104317 PMID:24033266 PMID:24299452 PMID:25251209 PMID:25591832 PMID:25741868 PMID:26026795 PMID:26163321 PMID:27435318 PMID:28454995 PMID:28492532 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
beta-ketothiolase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar Annotator: match by term: Beta ketothiolase deficiency
ClinVar Annotator: match by OMIM:203750
OMIM
ClinVar
PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 PMID:7173255 PMID:7728148 PMID:7749408 PMID:7907600 PMID:8103405 PMID:9700610 PMID:9744475 PMID:11161836 PMID:11161837 PMID:11914035 PMID:12754704 PMID:15128923 PMID:15877211 PMID:17236799 PMID:18511318 PMID:20046049 PMID:20156697 PMID:20488739 PMID:21669895 PMID:23430882 PMID:23958592 PMID:24517888 PMID:25741868 PMID:27264805 PMID:27748876 PMID:27928777 PMID:28220263 PMID:28361105 PMID:28393214 PMID:28492532 PMID:28689740 PMID:28726122 PMID:28875337 PMID:29624230 PMID:30311386 PMID:30393371 PMID:30835345 PMID:31268215 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:25741868 PMID:31268215 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:8268925 PMID:9429153 PMID:11708866 PMID:16051511 PMID:16198137 PMID:17935162 PMID:21953985 PMID:23500595 PMID:23842451 PMID:28492532 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A
ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency
ClinVar Annotator: match by OMIM:261640
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 PMID:8707300 PMID:9159737 PMID:9222757 PMID:9450907 PMID:10089284 PMID:10220141 PMID:10319579 PMID:10585341 PMID:10874306 PMID:11388593 PMID:11438997 PMID:11694255 PMID:11916314 PMID:16850690 PMID:16917893 PMID:17001642 PMID:17160954 PMID:18505119 PMID:19280650 PMID:19350512 PMID:20059486 PMID:21933604 PMID:22237589 PMID:23138986 PMID:23942198 PMID:25304915 PMID:25418970 PMID:25456745 PMID:25525159 PMID:25741868 PMID:25758715 PMID:26830550 PMID:27243974 PMID:27246466 PMID:28378820 PMID:28492532 PMID:28915855 PMID:29499199 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:7563095 PMID:20059486 NCBI chr 8:54,991,501...54,999,454
Ensembl chr 8:54,992,841...54,994,871
JBrowse link
biotinidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO ClinVar Annotator: match by term: Biotinidase deficiency
ClinVar Annotator: match by OMIM:253260
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9099842 PMID:9158148 PMID:9232193 PMID:9375914 PMID:9396567 PMID:9506660 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:13680408 PMID:14628140 PMID:14707518 PMID:15059618 PMID:15060693 PMID:15776412 PMID:16435182 PMID:17185019 PMID:17382128 PMID:18645204 PMID:18845537 PMID:19728141 PMID:19757147 PMID:20083419 PMID:20224900 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:21752405 PMID:21907891 PMID:22011816 PMID:22106832 PMID:22241090 PMID:22698809 PMID:22863189 PMID:22975760 PMID:22995991 PMID:23481307 PMID:23644139 PMID:23971085 PMID:24033266 PMID:24066991 PMID:24516753 PMID:24525934 PMID:24797656 PMID:24932929 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25333069 PMID:25423671 PMID:25741868 PMID:25754625 PMID:25967232 PMID:26334177 PMID:26361991 PMID:26467025 PMID:26577040 PMID:26589311 PMID:26635394 PMID:26656798 PMID:26810761 PMID:27014582 PMID:27207447 PMID:27329734 PMID:27533158 PMID:27535533 PMID:27625817 PMID:27629047 PMID:27657684 PMID:27760515 PMID:27845546 PMID:28492532 PMID:28498829 PMID:28971021 PMID:29353266 PMID:29359854 PMID:29995633 PMID:30311386 PMID:30912303 PMID:31337602 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO
IAGP
DNA:missense mutation:cds:G369E (rat)
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar Annotator: match by term: BCKDK DEFICIENCY
ClinVar Annotator: match by OMIM:614923
OMIM
ClinVar
PMID:22956686 PMID:25741868 PMID:26467025 PMID:28492532, PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
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 1:199,112,192...199,159,125
Ensembl chr 1:199,155,296...199,159,125
JBrowse link
G Ccdc189 coiled-coil domain containing 189 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,032,105...199,037,267
Ensembl chr 1:199,032,105...199,037,267
JBrowse link
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 1:199,624,037...199,626,255
Ensembl chr 1:199,624,037...199,624,783
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,925,265...198,938,939
Ensembl chr 1:198,932,870...198,937,750
JBrowse link
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 1:199,196,126...199,217,147
Ensembl chr 1:199,196,059...199,216,391
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Itgad integrin subunit alpha D ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,595,968...199,623,931
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Itgam integrin subunit alpha M ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Itgax integrin subunit alpha X ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,555,560...199,576,948
Ensembl chr 1:199,555,722...199,576,932
JBrowse link
G Kat8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
JBrowse link
G LOC102555635 zinc finger protein 39-like ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr10:45,193,771...45,211,045
Ensembl chr10:45,193,989...45,211,044
JBrowse link
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 1:199,217,504...199,222,363
Ensembl chr 1:199,217,016...199,222,851
JBrowse link
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 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
JBrowse link
G Prr14 proline rich 14 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,910,994...198,915,473 JBrowse link
G Prss36 serine protease 36 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,379,374...199,396,339
Ensembl chr 1:199,379,374...199,395,363
JBrowse link
G Prss53 serine protease 53 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,331,108...199,337,129
Ensembl chr 1:199,331,787...199,336,451
JBrowse link
G Prss8 serine protease 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
JBrowse link
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 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Rnf40 ring finger protein 40 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,037,472...199,052,823
Ensembl chr 1:199,037,544...199,052,172
JBrowse link
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,687,775...199,716,205
Ensembl chr 1:199,687,778...199,716,205
JBrowse link
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 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
JBrowse link
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 1:199,682,688...199,688,809
Ensembl chr 1:199,682,688...199,688,809
JBrowse link
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 1:198,957,764...199,007,576
Ensembl chr 1:198,960,542...199,007,347
JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,287,384...199,295,606
Ensembl chr 1:199,287,710...199,294,979
JBrowse link
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 1:199,664,039...199,670,970
Ensembl chr 1:199,664,173...199,670,961
JBrowse link
G Trim72 tripartite motif containing 72 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,450,042...199,457,902
Ensembl chr 1:199,449,973...199,457,895
JBrowse link
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 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
JBrowse link
G Zfp629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,052,430...199,065,639
Ensembl chr 1:198,894,000...199,064,150
JBrowse link
G Zfp646 zinc finger protein 646 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,321,354...199,331,256
Ensembl chr 1:199,323,628...199,330,997
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
JBrowse link
G Zfp688 zinc finger protein 688 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,865,950...198,869,068
Ensembl chr 1:198,866,137...198,869,009
JBrowse link
G Zfp689 zinc finger protein 689 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,894,000...198,900,364
Ensembl chr 1:198,894,000...199,064,150
JBrowse link
G Zfp764 zinc finger protein 764 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,834,995...198,839,251
Ensembl chr 1:198,834,989...198,839,228
JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO DNA:deletion:exon:699_859del (human)
ClinVar Annotator: match by term: Brown oculocutaneous albinism
ClinVar PMID:7920637 PMID:11179026 PMID:17767372, PMID:11179026 RGD:9491819 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Monoamine oxidase A deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BRUNNER SYNDROME
ClinVar Annotator: match by OMIM:300615
OMIM
ClinVar
CTD
PMID:8211186 PMID:11700166 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 ISO CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by term: Congenital hyperammonemia, type I
ClinVar Annotator: match by term: CPS I DEFICIENCY
ClinVar Annotator: match by OMIM:237300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8486760 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11474210 PMID:12655559 PMID:12955727 PMID:15050969 PMID:15164414 PMID:15617192 PMID:15876373 PMID:16737834 PMID:17310273 PMID:18414213 PMID:18666241 PMID:19167850 PMID:19309799 PMID:19793055 PMID:20578160 PMID:20800523 PMID:20855223 PMID:21120950 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:25741868 PMID:26059772 PMID:26440671 PMID:26592762 PMID:27150549 PMID:27290639 PMID:28007335 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:31507628, PMID:8486760 RGD:1600715 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
carboxypeptidase N deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpn1 carboxypeptidase N subunit 1 ISO ClinVar Annotator: match by term: CARBOXYPEPTIDASE N DEFICIENCY
ClinVar Annotator: match by OMIM:212070
OMIM
ClinVar
PMID:7437116 PMID:12560874 PMID:24033266 NCBI chr 1:263,733,887...263,762,758
Ensembl chr 1:263,733,519...263,762,785
JBrowse link
cerebral creatine deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,541,032...12,741,314
Ensembl chr 7:12,541,061...12,741,296
JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,573,604...12,602,407
Ensembl chr 7:12,574,198...12,601,674
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,433,422...12,441,048
Ensembl chr 7:12,433,933...12,441,048
JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,400,066...12,405,054
Ensembl chr 7:12,401,207...12,405,022
JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,782,459...12,787,977
Ensembl chr 7:12,782,491...12,787,750
JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,382,636...12,393,266
Ensembl chr 7:12,382,636...12,393,266
JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,398,200...12,399,910
Ensembl chr 7:12,398,200...12,399,910
JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,829,785...12,831,675
Ensembl chr 7:12,829,785...12,831,675
JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,806,031...12,810,556
Ensembl chr 7:12,804,919...12,810,570
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:2476685 PMID:8651275 PMID:11136556 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17171576 PMID:17336114 PMID:19027335 PMID:19388150 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28438604 PMID:28492532 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,764,993...12,771,310
Ensembl chr 7:12,764,993...12,771,310
JBrowse link
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 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,619,739...12,632,241
Ensembl chr 7:12,542,713...12,632,298
JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,414,303...12,426,712
Ensembl chr 7:12,414,733...12,424,367
JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,691,834...12,707,927
Ensembl chr 7:12,697,743...12,707,922
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,708,024...12,721,055
Ensembl chr 7:12,708,015...12,793,711
JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,652,555...12,663,825
Ensembl chr 7:12,652,415...12,663,819
JBrowse link
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 7:12,532,785...12,536,797
Ensembl chr 7:12,532,895...12,536,791
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,840,907...12,851,153
Ensembl chr 7:12,840,938...12,851,153
JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,798,310...12,804,668
Ensembl chr 7:12,798,868...12,804,283
JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,643,712...12,646,951
Ensembl chr 7:12,643,516...12,646,960
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,663,965...12,673,723
Ensembl chr 7:12,663,965...12,673,718
JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,331,288...12,348,263
Ensembl chr 7:12,331,416...12,346,475
JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,611,476...12,618,586
Ensembl chr 7:12,611,468...12,618,586
JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,820,796...12,828,325
Ensembl chr 7:12,820,840...12,828,334
JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,471,805...12,515,700
Ensembl chr 7:12,471,824...12,518,654
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,771,239...12,777,901
Ensembl chr 7:12,771,227...12,779,862
JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:12,561,318...12,569,120
Ensembl chr 7:12,561,324...12,569,143
JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500
ClinVar
OMIM
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:10482950 PMID:10648412 PMID:11857544 PMID:17554367 PMID:18485661 PMID:21878672 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25741868 PMID:26597256 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30311386 PMID:30383631 PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:11941481 PMID:25741868 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia, mild
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11941481 PMID:12815590 PMID:14680976 PMID:18473344 PMID:18925679 PMID:23780642 PMID:25741868 PMID:28111830 PMID:28492532, PMID:7557970 RGD:1599301 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333, PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
Citrullinemia Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO protein:altered expression:liver RGD PMID:3369364 RGD:13628398 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16449956 PMID:17880783 PMID:18367750 PMID:18392553 PMID:19036621 PMID:19470249 PMID:20301360 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22575253 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25216257 PMID:25365849 PMID:25741868 PMID:26852511 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29659898 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:25741868 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
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:6124451 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 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:16475226 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:20005624 PMID:21227727 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:27287393 PMID:27629047 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:30311386 PMID:30612563 PMID:32860008 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257 PMID:14680984 PMID:23022256 PMID:23053473 PMID:23067347 PMID:25216257 PMID:25741868 PMID:27405544 PMID:28492532 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:27889061 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Combined d-2- and l-2-hydroxyglutaric aciduria OMIM
ClinVar
PMID:23393310 PMID:23561848 PMID:25741868 PMID:30311386 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
combined malonic and methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria
ClinVar Annotator: match by OMIM:614265
OMIM
ClinVar
PMID:21785126 PMID:21841779 PMID:24033266 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29555771 PMID:29858964 PMID:30041674 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease, type 3
ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
ClinVar Annotator: match by OMIM:246900
OMIM
ClinVar
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9540846 PMID:9764998 PMID:9934985 PMID:10448086 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17404228 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
creatine transporter deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine transporter deficiency
ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
ClinVar Annotator: match by term: Creatine deficiency, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300352
OMIM
ClinVar
CTD
PMID:10893433 PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:15154114 PMID:15234334 PMID:16086185 PMID:16738945 PMID:17101918 PMID:17465020 PMID:18047645 PMID:18414213 PMID:19188083 PMID:20528887 PMID:20717164 PMID:20846889 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22659343 PMID:23408511 PMID:23644449 PMID:23660394 PMID:24137762 PMID:24190795 PMID:25326635 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:27081545 PMID:28065824 PMID:28492532 PMID:29429461 PMID:31222513 PMID:32860008 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria
ClinVar Annotator: match by OMIM:219500
OMIM
ClinVar
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:12097257 PMID:12491499 PMID:12672316 PMID:16615107 PMID:16644204 PMID:16777318 PMID:24504028 PMID:25741868 PMID:25823446 PMID:26187060 PMID:26295337 PMID:26467025 PMID:28477318 PMID:29446198 PMID:29470806 PMID:30209399 PMID:30702160 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:30311386 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:91,663,723...91,705,979
Ensembl chr 1:91,663,736...91,706,094
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cystinuria
ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 PMID:11260385 PMID:11748844 PMID:15635077 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:18716613 PMID:27247962 PMID:28492532 PMID:30311386 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 PMID:9083097 PMID:9186880 PMID:9648062 PMID:9719865 PMID:9768685 PMID:10620184 PMID:11260385 PMID:11748844 PMID:12036192 PMID:12234283 PMID:12820697 PMID:14531788 PMID:14991253 PMID:15635077 PMID:15691362 PMID:16138908 PMID:16225397 PMID:17010017 PMID:17880288 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:25741868 PMID:25964309 PMID:26537754 PMID:28166740 PMID:28492532 PMID:28646536 PMID:28717662 PMID:28893421 PMID:30146843, PMID:8054986 RGD:1600015 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
PMID:6031738 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:16225397 PMID:16374432 PMID:16834950 PMID:16838140 PMID:17539912 PMID:18414213 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:30311386, PMID:10471498 RGD:737767 NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494
JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar
OMIM
PMID:7609436 PMID:15609246 PMID:16037974 PMID:16081310 PMID:16442322 PMID:18414213 PMID:20020533 PMID:21384162 PMID:25741868 PMID:26178471 PMID:28492532 PMID:30908763 NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
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:25741868 PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar
OMIM
PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 PMID:22397365 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
dicarboxylic aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria
ClinVar Annotator: match by term: Dicarboxylicaminoaciduria
OMIM
ClinVar
PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria ClinVar PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link
Dimethylglycine Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmgdh dimethylglycine dehydrogenase ISO ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency
ClinVar Annotator: match by OMIM:605850
OMIM
ClinVar
PMID:10102904 PMID:10767172 PMID:11231903 PMID:25741868 PMID:28492532 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
JBrowse link
familial hypertryptophanemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdo2 tryptophan 2,3-dioxygenase ISO ClinVar Annotator: match by term: Hypertryptophanemia, familial ClinVar
OMIM
PMID:28285122 NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr13:93,740,759...93,742,624 JBrowse link
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 NCBI chr13:93,936,989...93,962,749
Ensembl chr13:93,939,022...93,960,342
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
ClinVar Annotator: match by term: Fumaric aciduria
ClinVar Annotator: match by term: Fumarate Hydratase Deficiency
ClinVar Annotator: match by OMIM:606812
OMIM
ClinVar
PMID:2314594 PMID:8007976 PMID:8200987 PMID:9300800 PMID:9635293 PMID:9665847 PMID:10896297 PMID:11585823 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16206287 PMID:16237213 PMID:16288654 PMID:16309500 PMID:16403393 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16876016 PMID:16881969 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17768033 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:18514489 PMID:19151755 PMID:19339519 PMID:19470762 PMID:19939761 PMID:19967458 PMID:20231875 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21340633 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22382802 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22703879 PMID:22764886 PMID:23203078 PMID:23211287 PMID:23320739 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25326637 PMID:25477250 PMID:25525159 PMID:25613812 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25852058 PMID:25913776 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26173633 PMID:26323704 PMID:26457356 PMID:26574848 PMID:26700204 PMID:26900816 PMID:26983443 PMID:27037871 PMID:27541980 PMID:28196407 PMID:28266706 PMID:28300276 PMID:28492532 PMID:28747166 PMID:28825054 PMID:28873162 PMID:29423582 PMID:29456767 PMID:29909963 PMID:30050099 PMID:30311386 PMID:30548481 PMID:30761759 PMID:30967997 PMID:31444830 PMID:31746132 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
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 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227
JBrowse link
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 NCBI chr13:93,716,481...93,746,994
Ensembl chr13:93,716,481...93,746,994
JBrowse link
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 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
JBrowse link
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 NCBI chr13:93,751,754...93,874,149
Ensembl chr13:93,751,759...93,874,105
JBrowse link
GABA aminotransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar Annotator: match by OMIM:613163
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6148708 PMID:10407778 PMID:15642443 PMID:20052547 PMID:25738457 PMID:25741868 PMID:26467025 PMID:27596361 PMID:27903293 PMID:28411234 PMID:28492532 PMID:31133775 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:7,041,510...7,055,107
Ensembl chr10:7,041,510...7,055,101
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G RGD1309748 similar to CG4768-PA ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:6,841,071...6,870,011
Ensembl chr10:6,841,071...6,870,011
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930
JBrowse link
gamma-glutamyl transpeptidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO OMIM NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE OMIM
ClinVar
NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by OMIM:230450 OMIM
ClinVar
PMID:10515893 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
Glutamine Deficiency, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: Glutamine deficiency, congenital
ClinVar Annotator: match by OMIM:610015
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16267323 PMID:21353613 PMID:28492532 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
glutaric acidemia I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaric acidemia type I
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231670
OMIM
ClinVar
CTD
PMID:1951469 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 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:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 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:25190159 PMID:25204480 PMID:25255367 PMID:25256449 PMID:25590979 PMID:25741868 PMID:25762492 PMID:25863083 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:27243974 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:29086383 PMID:29201125 PMID:29292490 PMID:29419857 PMID:29665094 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:31319225 PMID:31536184, PMID:28545977 RGD:13515124 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by synonym: Glutaryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
ClinVar PMID:1951469 PMID:8900227 PMID:8900228 PMID:9600243 PMID:9711871 PMID:10699052 PMID:10960496 PMID:11058907 PMID:11073722 PMID:12210585 PMID:12948740 PMID:15318278 PMID:15505393 PMID:17478444 PMID:18683078 PMID:18926513 PMID:19630565 PMID:21031586 PMID:21176883 PMID:22728054 PMID:24973495 PMID:25256449 PMID:25741868 PMID:27672653 PMID:28302372 PMID:28438223 PMID:28492532 PMID:31536184 NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
JBrowse link
Glutaric Aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar PMID:25741868 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
JBrowse link
Glutaric Aciduria III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sugct succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency ClinVar
OMIM
PMID:1909402 PMID:12555941 PMID:18926513 PMID:25741868 PMID:28492532 NCBI chr17:49,991,314...51,030,950 JBrowse link
glutathione synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: 5-Oxoprolinuria
ClinVar Annotator: match by term: Glutathione synthetase deficiency
ClinVar Annotator: match by OMIM:266130
DNA:mutations: :multiple (human)
ClinVar
OMIM
PMID:5476481 PMID:8896573 PMID:10369661 PMID:11167850 PMID:11445798 PMID:12638941 PMID:14635114 PMID:15056072 PMID:15717202 PMID:17479648 PMID:20981092 PMID:25741868 PMID:25851806 PMID:28492532 PMID:28822442, PMID:9215686, PMID:8896573 RGD:1302516, RGD:1599324 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
glycine encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4434100 PMID:6179960 PMID:8005589 PMID:9600239 PMID:9621520 PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:15272469 PMID:16051266 PMID:16450403 PMID:19299230 PMID:20949620 PMID:22171071 PMID:22261077 PMID:23352163 PMID:24033266 PMID:24838951 PMID:25231368 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:30311386 PMID:31319225, PMID:8005589, PMID:9621520, PMID:9600239 RGD:1599106, RGD:11073529, RGD:12879455 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
ClinVar Annotator: match by OMIM:605899
OMIM
ClinVar
PMID:12402263 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
DNA:deletions: :
DNA:mutation:cds: c.2607C>A(human)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:660 PMID:445864 PMID:1634607 PMID:1996985 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:16404748 PMID:16450403 PMID:16601880 PMID:16802295 PMID:17361008 PMID:18581728 PMID:20691948 PMID:20933183 PMID:21411353 PMID:22002442 PMID:22171071 PMID:22633639 PMID:23349517 PMID:24033266 PMID:24123366 PMID:24407464 PMID:25231368 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26179960 PMID:26467025 PMID:26539891 PMID:26749113 PMID:26947380 PMID:26969502 PMID:27362913 PMID:27617160 PMID:27799067 PMID:27884173 PMID:27896094 PMID:28116331 PMID:28244183 PMID:28302194 PMID:28468868 PMID:28492532 PMID:29205322 PMID:29232014 PMID:29239742 PMID:29988937 PMID:30311386 PMID:30609409 PMID:31319225 PMID:273629130, PMID:17361008, PMID:15851735 RGD:12904646, RGD:11062733 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589 PMID:9621520 PMID:16450403 PMID:19299230 PMID:23352163 PMID:26467025 PMID:27362913 PMID:27620832 PMID:28492532 NCBI chr 8:117,062,989...117,068,134
Ensembl chr 8:117,062,884...117,068,130
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISS OMIM:605899 MouseDO NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine ClinVar
OMIM
PMID:27481395 PMID:27773429 PMID:28492532 PMID:29190063 NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
glycine N-methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency ClinVar
OMIM
PMID:11596649 PMID:11810299 PMID:14739680 PMID:28492532 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
Glycinuria with or without Oxalate Urolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II
ClinVar Annotator: match by term: Hyperglycinuria
ClinVar Annotator: match by OMIM:138500
OMIM
ClinVar
PMID:19033659 PMID:28492532 NCBI chr10:40,497,184...40,525,033
Ensembl chr10:40,496,622...40,525,008
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hyperglycinuria
ClinVar Annotator: match by OMIM:138500
OMIM
ClinVar
PMID:15286788 PMID:17555458 PMID:18484095 PMID:19033659 PMID:19185582 PMID:24033266 PMID:25741868 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II
ClinVar Annotator: match by term: Hyperglycinuria
ClinVar Annotator: match by OMIM:138500
OMIM
ClinVar
PMID:19033659 PMID:28492532 NCBI chr 8:132,713,013...132,753,145
Ensembl chr 8:132,665,927...132,753,292
JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450
OMIM
ClinVar
PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624
OMIM
ClinVar
PMID:8319705 PMID:10835631 PMID:12058346 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25901543 PMID:26880764 PMID:27016801 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30697212 PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar Annotator: match by OMIM:609227
OMIM
ClinVar
PMID:12148598 PMID:12897212 NCBI chr 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612736
OMIM
ClinVar
CTD
PMID:2476685 PMID:8651275 PMID:9386672 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:19027335 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28492532 PMID:32214227 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:12468279 PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link
Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 member 19 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
ClinVar Annotator: match by term: Hartnup disease
ClinVar Annotator: match by OMIM:234500
ClinVar
OMIM
PMID:15286787 PMID:15286788 PMID:17555458 PMID:18484095 PMID:19185582 PMID:19472175 PMID:20399395 PMID:24033266 PMID:25741868 PMID:28924877, PMID:15286787 RGD:1600035 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hawkinsinuria
ClinVar Annotator: match by term: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
ClinVar Annotator: match by OMIM:140350
OMIM
ClinVar
PMID:858207 PMID:1130176 PMID:1519651 PMID:10942115 PMID:11073718 PMID:17560158 PMID:25741868 PMID:26226126 PMID:28492532 PMID:30984715 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PMID:24033266 PMID:25741868 PMID:28492532, PMID:12125811, PMID:11056055, PMID:11861280 RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:31064749 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:79,013,808...79,015,108
Ensembl chr14:79,013,807...79,015,112
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
JBrowse link
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:21665000 PMID:22461475 PMID:26575419 PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:24033266, PMID:12923531 RGD:11251756 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
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:9497254 PMID:9562579 PMID:9705234 PMID:12442288 PMID:14510955 PMID:15952982 PMID:16185271 PMID:17365864 PMID:20514622 PMID:20662851 PMID:24033266 PMID:25741868 PMID:26575419 PMID:26806224 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30311386 PMID:31064749 PMID:32581362 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
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
PMID:11590544 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:28492532 PMID:31064749, PMID:11455388 RGD:1599538 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
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
PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532, PMID:12664304, PMID:11836498, PMID:23563589 RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
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
PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28640947 PMID:31064749, PMID:15296495 RGD:11072072 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
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
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 PMID:26575419 PMID:31064749, PMID:12548288, PMID:19843503 RGD:632833, RGD:11073544 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
JBrowse link
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 chr15:34,393,419...34,400,466
Ensembl chr15:34,393,233...34,400,449
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512
JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar Annotator: match by term: Delta storage pool disease
ClinVar Annotator: match by OMIM:203300
ClinVar
OMIM
PMID:8274781 PMID:8896559 PMID:9497254 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15952982 PMID:16185271 PMID:17365864 PMID:18326704 PMID:19334085 PMID:20514622 PMID:20662851 PMID:21458243 PMID:24033266 PMID:25741868 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30311386 PMID:31064749 PMID:32581362, PMID:8896559 RGD:1625056 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome 10 ClinVar
OMIM
PMID:26744459 NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar Annotator: match by term: Hermansky Pudlak syndrome 2
ClinVar Annotator: match by OMIM:608233
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8042664 PMID:10024875 PMID:11809908 PMID:14566336 PMID:16537806 PMID:16551969 PMID:24033266 PMID:25741868 PMID:25980904 PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:608233 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532 PMID:32581362 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar PMID:11590544 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
ClinVar Annotator: match by OMIM:614072
OMIM
ClinVar
PMID:11455388 PMID:11590544 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27593200 PMID:28492532, PMID:11590544 RGD:11041885 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
ClinVar Annotator: match by OMIM:614073
OMIM
ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:20158590 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
ClinVar Annotator: match by OMIM:614074
OMIM
ClinVar
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 PMID:24033266 PMID:24698632 PMID:25741868 PMID:28296950 PMID:28492532 PMID:28640947 PMID:31064749 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
ClinVar Annotator: match by OMIM:614075
OMIM
ClinVar
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 PMID:25741868 PMID:25949529 PMID:27225848 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
ClinVar Annotator: match by OMIM:614076
OMIM
ClinVar
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
ClinVar Annotator: match by OMIM:614077
OMIM
ClinVar
PMID:16385460 PMID:22709368 PMID:29345414 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar
PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
histidinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hal histidine ammonia lyase ISO ClinVar Annotator: match by term: Histidinemia
ClinVar Annotator: match by OMIM:235800
ClinVar Annotator: match by term: Increased histidine
OMIM
ClinVar
PMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 PMID:24725463 PMID:25575548 PMID:27453504 PMID:28492532 NCBI chr 7:34,326,087...34,356,413
Ensembl chr 7:34,326,087...34,356,413
JBrowse link
holocarboxylase synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,909,417...33,917,674
Ensembl chr11:33,909,439...33,917,674
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,929,142...34,027,447
Ensembl chr11:33,925,498...34,027,435
JBrowse link
G Hlcs holocarboxylase synthetase ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency
ClinVar Annotator: match by OMIM:253270
ClinVar
OMIM
PMID:6133032 PMID:7842009 PMID:8319716 PMID:8541348 PMID:8817339 PMID:9396568 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:16231399 PMID:17274881 PMID:17407983 PMID:18429047 PMID:18442489 PMID:18974016 PMID:19157941 PMID:19695181 PMID:20026029 PMID:20095979 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:12124727 RGD:1302549 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,051,928...34,094,697
Ensembl chr11:34,051,993...34,094,698
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,781,869...33,803,121
Ensembl chr11:33,781,870...33,801,999
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link
homocarnosinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cndp1 carnosine dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4172777 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by OMIM:236200
ClinVar
OMIM
PMID:1301198 PMID:2056790 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:9587029 PMID:9590298 PMID:9708897 PMID:9813456 PMID:9864922 PMID:9870207 PMID:9889017 PMID:10215408 PMID:10328723 PMID:10338090 PMID:10363126 PMID:10364517 PMID:10408774 PMID:10531322 PMID:10687314 PMID:10780316 PMID:10807759 PMID:11204591 PMID:11230183 PMID:11343305 PMID:11359213 PMID:11434706 PMID:11524006 PMID:11553052 PMID:11774777 PMID:12007221 PMID:12124992 PMID:12269827 PMID:12379655 PMID:12552044 PMID:12686134 PMID:12815602 PMID:12828591 PMID:14635102 PMID:14722619 PMID:14722927 PMID:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:15494741 PMID:15993874 PMID:16205833 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16429402 PMID:16470595 PMID:16479318 PMID:16619244 PMID:16786517 PMID:17069888 PMID:17072863 PMID:17319270 PMID:17327360 PMID:17352495 PMID:17540596 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: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:21517828 PMID:21520339 PMID:21626167 PMID:21957013 PMID:22002135 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22353391 PMID:22382802 PMID:22612060 PMID:22738154 PMID:22891245 PMID:22977242 PMID:22985361 PMID:23592311 PMID:23733603 PMID:23812867 PMID:23934999 PMID:23974653 PMID:23981774 PMID:24033266 PMID:24138954 PMID:24211323 PMID:24613005 PMID:24990611 PMID:25044645 PMID:25087612 PMID:25197074 PMID:25218699 PMID:25326637 PMID:25331909 PMID:25516723 PMID:25741868 PMID:25939784 PMID:26464485 PMID:26750749 PMID:27243974 PMID:27959664 PMID:28421128 PMID:28488385 PMID:28492532 PMID:28550590 PMID:28583326 PMID:28980096 PMID:29326875 PMID:29352562 PMID:29508359 PMID:29650765 PMID:30246729 PMID:30311386 PMID:30732165 PMID:32245022, PMID:7506602 RGD:1600622 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
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 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
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:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
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
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266, PMID:15714522 RGD:5508189 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:26,164,969...26,736,704 JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by null
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:9156316 PMID:9232191 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:14972327 PMID:15087459 PMID:15146473 PMID:15192637 PMID:15365998 PMID:16245937 PMID:16307898 PMID:16375773 PMID:16479318 PMID:16619244 PMID:17072863 PMID:17540596 PMID:18201569 PMID:18805305 PMID:19232736 PMID:19819175 PMID:20066033 PMID:20490928 PMID:20506325 PMID:20567906 PMID:21520339 PMID:22069143 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:23592311 PMID:23974653 PMID:24033266 PMID:24211323 PMID:25044645 PMID:25218699 PMID:25331909 PMID:25516723 PMID:25741868 PMID:26750749 PMID:28488385 PMID:28492532 PMID:28583326 PMID:29650765 PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:10484769 PMID:12555939 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:20120036 PMID:22887477 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:30041674 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
Hydroxykynureninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:236800
OMIM
CTD
ClinVar
PMID:17334708 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
JBrowse link
hyperargininemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 susceptibility ISO ClinVar Annotator: match by term: Arginase deficiency
ClinVar Annotator: match by OMIM:207800
ClinVar
OMIM
PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:3658675 PMID:7649538 PMID:7981719 PMID:8902193 PMID:10502833 PMID:11883902 PMID:12052859 PMID:15565656 PMID:18666241 PMID:18957279 PMID:19052914 PMID:19562505 PMID:21310339 PMID:21802329 PMID:22959135 PMID:23859858 PMID:24103480 PMID:24482476 PMID:25741868 PMID:26169240 PMID:26310552 PMID:27038030 PMID:27898091 PMID:28089752 PMID:28492532, PMID:7649538 RGD:1599208 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Hyperargininemia
ClinVar Annotator: match by term: Arginase deficiency
ClinVar PMID:624188 PMID:1463019 PMID:1598908 PMID:7649538 PMID:7981719 PMID:8902193 PMID:10502833 PMID:11883902 PMID:12052859 PMID:15565656 PMID:18666241 PMID:18957279 PMID:19052914 PMID:19562505 PMID:21310339 PMID:21802329 PMID:22959135 PMID:23859858 PMID:24103480 PMID:24482476 PMID:25741868 PMID:26169240 PMID:27038030 PMID:27898091 PMID:28089752 PMID:28492532 NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680 PMID:22152680 PMID:24334290 PMID:26467025 PMID:27923773 PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cbs cystathionine beta synthase IEP
ISO
mRNA:decreased expression, protein:decreased expression
ClinVar Annotator: match by term: Hyperhomocysteinemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 RGD:1600624 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
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 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 RGD:1601421, RGD:10449400 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hyperlysinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by OMIM:238700 OMIM
ClinVar
PMID:934735 PMID:10775527 PMID:23570448 PMID:23890588 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link
hypermethioninemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypermethioninemia
CTD
ClinVar
PMID:26974671 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11596649 PMID:11810299 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency
ClinVar Annotator: match by term: Methionine adenosyltransferase deficiency, autosomal dominant
ClinVar Annotator: match by term: Methionine adenosyltransferase deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:250850
ClinVar
OMIM
PMID:1527987 PMID:1683972 PMID:3812486 PMID:4421454 PMID:7229751 PMID:7560086 PMID:7573050 PMID:8770875 PMID:9042912 PMID:9482646 PMID:10677294 PMID:11278456 PMID:15935930 PMID:18500573 PMID:20675163 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:9042912 RGD:1599915 NCBI chr16:18,690,649...18,709,135
Ensembl chr16:18,690,246...18,709,133
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614300
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency OMIM
ClinVar
PMID:15024124 PMID:16736098 PMID:19177456 PMID:19619139 PMID:20852937 PMID:22959829 PMID:25741868 PMID:26095522 PMID:26527160 PMID:28492532 PMID:28779239 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
Hyperphenylalaninemia with Primapterinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D
ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, d
ClinVar Annotator: match by OMIM:264070
OMIM
ClinVar
PMID:8352282 PMID:8618906 PMID:9585615 PMID:24204001 PMID:24848070 PMID:25333069 PMID:25741868 PMID:27246466 PMID:28492532 NCBI chr20:30,689,690...30,696,465
Ensembl chr20:30,690,810...30,696,476
JBrowse link
Hyperphenylalaninemia, BH4-Deficient, B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency
ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B
ClinVar Annotator: match by OMIM:233910
OMIM
ClinVar
PMID:1530300 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9667588 PMID:10984668 PMID:12391354 PMID:12707079 PMID:15303002 PMID:15389992 PMID:17044972 PMID:17898029 PMID:18044725 PMID:19332422 PMID:19491146 PMID:23430498 PMID:24033266 PMID:24993959 PMID:25125585 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27246466 PMID:27313105 PMID:28492532 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
Hyperphenylalaninemia, BH4-Deficient, C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: Dihydropteridine reductase deficiency OMIM
ClinVar
PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 PMID:9341885 PMID:9744478 PMID:11153907 PMID:24033266 PMID:25741868 PMID:26006720 PMID:28492532 NCBI chr14:70,164,682...70,178,284
Ensembl chr14:70,164,650...70,178,284
JBrowse link
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
JBrowse link
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient ClinVar
OMIM
PMID:9159748 PMID:28132689 PMID:28794131 PMID:28892570 PMID:30139987 PMID:32333439 NCBI chr20:26,893,139...26,913,041
Ensembl chr20:26,893,016...26,913,016
JBrowse link
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:27469133 PMID:28492532 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
hyperprolinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Hyperprolinemia ClinVar NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
hyperprolinemia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: PROLINE OXIDASE DEFICIENCY
ClinVar Annotator: match by term: Proline dehydrogenase deficiency
ClinVar PMID:12217952 PMID:19736351 PMID:26978485 PMID:28492532 NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by OMIM:239500
ClinVar Annotator: match by term: Proline dehydrogenase deficiency
ClinVar Annotator: match by term: Hyperprolinemia type 1
ClinVar
OMIM
PMID:11510941 PMID:11891283 PMID:12217952 PMID:15494707 PMID:15662599 PMID:17412540 PMID:19736351 PMID:20524212 PMID:22090377 PMID:24033266 PMID:24842239 PMID:25741868 PMID:26978485 PMID:28492532 PMID:28708303 PMID:30311386 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
hyperprolinemia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase
ClinVar Annotator: match by term: Hyperprolinemia type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:239510
OMIM
ClinVar
CTD
PMID:2624476 PMID:9700195 PMID:25641190 PMID:25741868 PMID:26822237 PMID:28492532 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcat2 branched chain amino acid transaminase 2 ISO ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia ClinVar
OMIM
PMID:25653144 NCBI chr 1:101,553,900...101,572,103
Ensembl chr 1:101,554,642...101,572,080
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ClinVar
OMIM
PMID:26619011 PMID:29018201 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar
PMID:30239721 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
Isobutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase
ClinVar Annotator: match by term: ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF
ClinVar Annotator: match by OMIM:611283
OMIM
ClinVar
PMID:9889013 PMID:12359132 PMID:15505379 PMID:16857760 PMID:17304052 PMID:17924841 PMID:24635911 PMID:25689098 PMID:25741868 PMID:28492532 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
isolated sulfite oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: Sulfite oxidase deficiency, isolated
ClinVar Annotator: match by OMIM:272300
OMIM
ClinVar
PMID:9428520 PMID:9600976 PMID:12001203 PMID:12112661 PMID:12368985 PMID:15952210 PMID:16140720 PMID:19339519 PMID:23994568 PMID:24938149 PMID:25741868 PMID:28492532 PMID:28629418 PMID:28933809 PMID:29590070 NCBI chr 7:3,098,228...3,102,179
Ensembl chr 7:3,098,245...3,102,142
JBrowse link