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ONTOLOGY REPORT - ANNOTATIONS
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;   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 JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:11554173
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:11554173
G Asl argininosuccinate lyase JBrowse link 12 30,160,922 30,178,348 RGD:734610
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:1600761
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:11554173
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:13592920
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 JBrowse link 3 110,159,624 110,245,382 RGD:11554173
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:1601275
RGD:11554173
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:13592920
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:11554173
G Gcsh glycine cleavage system protein H JBrowse link 19 49,522,054 49,532,811 RGD:12904659
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:1599500
G Ivd isovaleryl-CoA dehydrogenase JBrowse link 3 110,669,355 110,689,789 RGD:1600039
G Mat1a methionine adenosyltransferase 1A JBrowse link 16 18,690,649 18,709,135 RGD:11554173
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:1600560
G Pcca propionyl-CoA carboxylase subunit alpha JBrowse link 15 108,960,509 109,306,879 RGD:1600306
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:1600331
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:1600412
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:1599206
RGD:11554173
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:11554173
G Secisbp2 SECIS binding protein 2 JBrowse link 17 13,555,348 13,586,595 RGD:11554173
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:1599239
RGD:1599240
G Slc7a7 solute carrier family 7 member 7 JBrowse link 15 33,013,346 33,059,733 RGD:11554173
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:11554173
2-aminoadipic 2-oxoadipic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:11554173
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:11554173
RGD:13506818
RGD:13506815
RGD:13506814
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:7240710
RGD:8554872
RGD:13506826
2-Methylbutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadsb acyl-CoA dehydrogenase, short/branched chain JBrowse link 1 201,981,362 202,022,771 RGD:7240710
RGD:8554872
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:8554872
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
3-methylglutaconic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:8554872
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:8554872
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:8554872
RGD:7240710
G Loxl3 lysyl oxidase-like 3 JBrowse link 4 113,866,782 113,883,713 RGD:8554872
3-methylglutaconic aciduria type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
RGD:7240710
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb ClpB homolog, mitochondrial AAA ATPase chaperonin JBrowse link 1 166,739,372 166,866,095 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
5-Oxoprolinase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:7240710
RGD:8554872
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aprt adenine phosphoribosyl transferase JBrowse link 19 55,387,288 55,389,256 RGD:8554872
RGD:7240710
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:8554872
adenylosuccinase lyase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adsl adenylosuccinate lyase JBrowse link 7 122,157,201 122,192,328 RGD:7240710
RGD:8554872
RGD:11554173
Adult-Onset Citrullinemia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:1599241
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599242
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo RGD:12792973
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
alkaptonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgd homogentisate 1, 2-dioxygenase JBrowse link 11 65,983,221 66,034,555 RGD:1599472
RGD:8554872
RGD:7240710
Alpha-Ketoglutarate Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ogdh oxoglutarate dehydrogenase JBrowse link 14 86,414,924 86,481,903 RGD:7240710
RGD:8554872
Aminoacylase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acy1 aminoacylase 1 JBrowse link 8 115,134,792 115,140,171 RGD:8554872
RGD:7240710
Arakawa Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8554872
argininosuccinic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asl argininosuccinate lyase JBrowse link 12 30,160,922 30,178,348 RGD:1302509
RGD:8554872
RGD:13628399
RGD:11554173
RGD:7240710
aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddc dopa decarboxylase JBrowse link 14 91,905,919 91,996,816 RGD:7240710
RGD:8554872
Asparagine Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asns asparagine synthetase (glutamine-hydrolyzing) JBrowse link 4 33,742,876 33,761,106 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Fkbp1a FKBP prolyl isomerase 1A JBrowse link 3 147,042,944 147,062,725 RGD:13592920
G Mest mesoderm specific transcript JBrowse link 4 58,052,786 58,063,227 RGD:13592920
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:7240710
RGD:8554872
RGD:11554173
Beta-Aminoisobutyric Acid, Urinary Excretion of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt2 alanine-glyoxylate aminotransferase 2 JBrowse link 2 60,337,667 60,379,144 RGD:8554872
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hibch 3-hydroxyisobutyryl-CoA hydrolase JBrowse link 9 53,446,185 53,526,727 RGD:7240710
RGD:8554872
beta-ketothiolase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:7240710
RGD:8554872
G Acat2 acetyl-CoA acetyltransferase 2 JBrowse link 1 47,972,399 47,992,654 RGD:8554872
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:7240710
RGD:8554872
biotinidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btd biotinidase JBrowse link 16 7,758,192 7,791,301 RGD:7240710
RGD:8554872
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc5 armadillo repeat containing 5 JBrowse link 1 199,655,069 199,662,419 RGD:8554872
G Bckdk branched chain ketoacid dehydrogenase kinase JBrowse link 1 199,351,628 199,356,299 RGD:7240710
RGD:8554872
G Bcl7c BAF chromatin remodeling complex subunit BCL7C JBrowse link 1 199,112,192 199,159,125 RGD:8554872
G Ccdc189 coiled-coil domain containing 189 JBrowse link 1 199,032,105 199,037,267 RGD:8554872
G Cox6a2 cytochrome c oxidase subunit 6A2 JBrowse link 1 199,624,037 199,626,255 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Fbrs fibrosin JBrowse link 1 198,925,265 198,938,939 RGD:8554872
G Fbxl19 F-box and leucine-rich repeat protein 19 JBrowse link 1 199,196,126 199,217,147 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:8554872
G Itgad integrin subunit alpha D JBrowse link 1 199,595,968 199,623,931 RGD:8554872
G Itgam integrin subunit alpha M JBrowse link 1 199,495,312 199,545,738 RGD:8554872
G Itgax integrin subunit alpha X JBrowse link 1 199,555,560 199,576,948 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:8554872
G LOC102555635 zinc finger protein 39-like JBrowse link 10 45,193,771 45,211,045 RGD:8554872
G Orai3 ORAI calcium release-activated calcium modulator 3 JBrowse link 1 199,217,504 199,222,363 RGD:8554872
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
G Prr14 proline rich 14 JBrowse link 1 198,910,994 198,915,473 RGD:8554872
G Prss36 serine protease 36 JBrowse link 1 199,379,374 199,396,339 RGD:8554872
G Prss53 serine protease 53 JBrowse link 1 199,331,108 199,337,129 RGD:8554872
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:8554872
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:8554872
G RGD1310127 similar to cDNA sequence BC017158 JBrowse link 1 199,687,775 199,716,205 RGD:8554872
G Rnf40 ring finger protein 40 JBrowse link 1 199,037,472 199,052,823 RGD:8554872
G Setd1a SET domain containing 1A, histone lysine methyltransferase JBrowse link 1 199,222,584 199,247,993 RGD:8554872
G Slc5a2 solute carrier family 5 member 2 JBrowse link 1 199,682,688 199,688,809 RGD:8554872
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 JBrowse link 1 199,664,039 199,670,970 RGD:8554872
G Trim72 tripartite motif containing 72 JBrowse link 1 199,450,042 199,457,902 RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:8554872
G Zfp629 zinc finger protein 629 JBrowse link 1 199,052,430 199,065,639 RGD:8554872
G Zfp646 zinc finger protein 646 JBrowse link 1 199,321,354 199,331,256 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
G Zfp688 zinc finger protein 688 JBrowse link 1 198,865,950 198,869,068 RGD:8554872
G Zfp689 zinc finger protein 689 JBrowse link 1 198,894,000 198,900,364 RGD:8554872
G Zfp764 zinc finger protein 764 JBrowse link 1 198,834,995 198,839,251 RGD:8554872
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:9491819
RGD:8554872
Brunner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:7240710
RGD:8554872
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:1600715
RGD:8554872
RGD:11554173
RGD:7240710
Carboxypeptidase N Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpn1 carboxypeptidase N subunit 1 JBrowse link 1 263,733,887 263,762,758 RGD:7240710
RGD:8554872
cerebral creatine deficiency syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
citrullinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ass1 argininosuccinate synthase 1 JBrowse link 3 10,327,411 10,375,847 RGD:1599301
RGD:8554872
RGD:7240710
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:8554872
RGD:13592920
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:1599240
RGD:1599239
CITRULLINEMIA TYPE 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:13628398
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
combined malonic and methylmalonic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:7240710
RGD:8554872
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:7240710
RGD:8554872
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710
RGD:8554872
RGD:11554173
cystathioninuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:7240710
RGD:8554872
cystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep89 centrosomal protein 89 JBrowse link 1 91,663,723 91,705,979 RGD:8554872
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:8554872
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:1600015
RGD:8554872
RGD:7240710
G Slc7a9 solute carrier family 7 member 9 JBrowse link 1 91,709,034 91,738,492 RGD:737767
RGD:8554872
RGD:7240710
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:13506812
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
RGD:7240710
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:8554872
RGD:7240710
dicarboxylic aminoaciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:7240710
RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
Dimethylglycine Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmgdh dimethylglycine dehydrogenase JBrowse link 2 23,289,376 23,370,360 RGD:7240710
RGD:8554872
fumarase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:7240710
RGD:8554872
GABA aminotransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:7240710
RGD:8554872
RGD:11554173
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:8554872
G Tmem186 transmembrane protein 186 JBrowse link 10 7,077,488 7,080,806 RGD:8554872
gamma-glutamyl transpeptidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggt1 gamma-glutamyltransferase 1 JBrowse link 20 14,019,723 14,045,781 RGD:7240710
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872
Glutamine Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glul glutamate-ammonia ligase JBrowse link 13 71,331,052 71,340,207 RGD:7240710
RGD:8554872
RGD:11554173
glutaric acidemia I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:10047115
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:7240710
RGD:8554872
RGD:13515124
RGD:11554173
G Syce2 synaptonemal complex central element protein 2 JBrowse link 19 25,982,003 26,002,399 RGD:8554872
Glutaric Aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:8554872
G Syce2 synaptonemal complex central element protein 2 JBrowse link 19 25,982,003 26,002,399 RGD:8554872
Glutaric Aciduria III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sugct succinylCoA:glutarate-CoA transferase JBrowse link 17 49,991,314 51,030,950 RGD:8554872
RGD:7240710
Glutathione Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gss glutathione synthetase JBrowse link 3 151,076,254 151,106,557 RGD:1302516
RGD:8554872
RGD:7240710
RGD:1599324
glycine encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amt aminomethyltransferase JBrowse link 8 117,068,388 117,078,633 RGD:1599106
RGD:8554872
RGD:11073529
RGD:12879455
RGD:11554173
RGD:7240710
G Gcsh glycine cleavage system protein H JBrowse link 19 49,522,054 49,532,811 RGD:7240710
RGD:8554872
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:7240710
RGD:8554872
RGD:12904646
RGD:11062733
RGD:11554173
G Kdm4c lysine demethylase 4C JBrowse link 5 90,800,139 91,012,662 RGD:8554872
G Nicn1 nicolin 1 JBrowse link 8 117,062,989 117,068,134 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:13592920
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
RGD:7240710
glycine N-methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:8554872
RGD:7240710
Glycinuria with or without Oxalate Urolithiasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc36a2 solute carrier family 36 member 2 JBrowse link 10 40,497,184 40,525,033 RGD:7240710
RGD:8554872
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:7240710
RGD:8554872
G Slc6a20 solute carrier family 6 member 20 JBrowse link 8 132,713,013 132,753,145 RGD:7240710
RGD:8554872
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:7240710
RGD:8554872
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:7240710
RGD:8554872
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 9 98,072,965 98,108,429 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:7240710
RGD:8554872
RGD:11554173
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
Hartnup disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:1600035
RGD:8554872
RGD:7240710
hawkinsinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link 2 24,022,815 24,227,522 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:8554872
RGD:11554173
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 14 79,013,808 79,015,108 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 17 26,808,193 26,833,257 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:8554872
RGD:11554173
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4891476
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352293
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:11251756
RGD:11554173
RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:1599538
RGD:8554872
RGD:11554173
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:1599546
RGD:8554872
RGD:11554173
RGD:11354897
RGD:11353873
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:11072072
RGD:8554872
RGD:11554173
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:632833
RGD:8554872
RGD:11554173
RGD:11073544
G Kxd1 KxDL motif containing 1 JBrowse link 16 20,652,863 20,666,581 RGD:13592920
G Rab38 RAB38, member RAS oncogene family JBrowse link 1 152,072,716 152,153,449 RGD:2324690
G Rab38ru Rab38, member of RAS oncogene family, ruby allele RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha JBrowse link 15 34,393,419 34,400,466 RGD:13592920
G Slc7a11 solute carrier family 7 member 11 JBrowse link 2 139,453,774 139,528,479 RGD:13592920
G Trappc6a trafficking protein particle complex 6A JBrowse link 1 80,417,514 80,424,429 RGD:8554872
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:1625056
RGD:8554872
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link 2 24,022,815 24,227,522 RGD:7240710
RGD:8554872
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:7240710
RGD:8554872
RGD:11041885
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:7240710
RGD:8554872
histidinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hal histidine ammonia lyase JBrowse link 7 34,326,087 34,356,413 RGD:7240710
RGD:8554872
holocarboxylase synthetase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbr1 carbonyl reductase 1 JBrowse link 11 33,813,041 33,815,418 RGD:8554872
G Cbr3 carbonyl reductase 3 JBrowse link 11 33,909,417 33,917,674 RGD:8554872
G Chaf1b chromatin assembly factor 1 subunit B JBrowse link 11 34,101,248 34,121,371 RGD:8554872
G Cldn14 claudin 14 JBrowse link 11 34,132,581 34,142,813 RGD:8554872
G Dop1b DOP1 leucine zipper like protein B JBrowse link 11 33,929,142 34,027,447 RGD:8554872
G Hlcs holocarboxylase synthetase JBrowse link 11 34,357,372 34,537,798 RGD:1302549
RGD:8554872
RGD:7240710
G Morc3 MORC family CW-type zinc finger 3 JBrowse link 11 34,051,928 34,094,697 RGD:8554872
G Setd4 SET domain containing 4 JBrowse link 11 33,781,869 33,803,121 RGD:8554872
G Sim2 SIM bHLH transcription factor 2 JBrowse link 11 34,315,739 34,355,183 RGD:8554872
homocarnosinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cndp1 carnosine dipeptidase 1 JBrowse link 18 81,466,717 81,512,841 RGD:11554173
homocystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600622
RGD:8554872
RGD:7240710
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:5508189
RGD:11554173
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
Hydroxykynureninuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kynu kynureninase JBrowse link 3 28,416,926 28,566,939 RGD:7240710
RGD:11554173
RGD:8554872
hyperargininemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:1599208
RGD:8554872
RGD:7240710
G Arntl aryl hydrocarbon receptor nuclear translocator-like JBrowse link 1 178,039,002 178,137,469 RGD:11554173
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:8554872
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
hyperhomocysteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:1598896
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:6903856
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:11576285
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:11576285
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:1599454
G Casp1 caspase 1 JBrowse link 8 2,605,743 2,614,637 RGD:11554173
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600624
RGD:8554872
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8549578
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:8554872
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5135249
G Cxcl6 C-X-C motif chemokine ligand 6 JBrowse link 14 18,860,201 18,920,839 RGD:5135249
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:4892572
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:4892572
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:1601105
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:1601105
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:1601105
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1601105
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449171
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:11554173
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11035307
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:13792697
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:13792697
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13792697
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4144131
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175168
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204791
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:11554173
RGD:10449400
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:1601425
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5144149
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link 1 88,922,346 88,950,560 RGD:11554173
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:1642265
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:11554173
G Slc46a1 solute carrier family 46 member 1 JBrowse link 10 65,728,508 65,741,708 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11035307
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204791
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
hyperlysinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aass aminoadipate-semialdehyde synthase JBrowse link 4 50,152,005 50,208,935 RGD:7240710
RGD:8554872
hypermethioninemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:8554872
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
RGD:8554872
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:11554173
G Mat1a methionine adenosyltransferase 1A JBrowse link 16 18,690,649 18,709,135 RGD:1599915
RGD:8554872
RGD:7240710
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:7240710
RGD:8554872
RGD:11554173
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:7240710
RGD:8554872
Hyperphenylalaninemia with Primapterinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 JBrowse link 20 30,689,690 30,696,465 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qdpr quinoid dihydropteridine reductase JBrowse link 14 70,164,682 70,178,284 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:8554872
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 JBrowse link 20 26,893,139 26,913,041 RGD:8554872
RGD:7240710
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:8554872
hyperprolinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 JBrowse link 5 158,090,238 158,115,725 RGD:8554872
hyperprolinemia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:8554872
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:8554872
RGD:7240710
hyperprolinemia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 JBrowse link 5 158,090,238 158,115,725 RGD:7240710
RGD:8554872
RGD:11554173
Hypertryptophanemia, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdo2 tryptophan 2,3-dioxygenase JBrowse link 2 180,897,059 180,914,919 RGD:8554872
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:8554872
RGD:7240710
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872
Isobutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad8 acyl-CoA dehydrogenase family, member 8 JBrowse link 8 28,023,401 28,044,967 RGD:7240710
RGD:8554872
isolated sulfite oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suox sulfite oxidase JBrowse link 7 3,098,228 3,102,179 RGD:7240710
RGD:8554872
isovaleric acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ivd isovaleryl-CoA dehydrogenase JBrowse link 3 110,669,355 110,689,789 RGD:7240710
RGD:8554872
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmac2l distal membrane arm assembly complex 2 like JBrowse link 6 92,057,782 92,076,022 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:8554872
RGD:7240710
RGD:13506824
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:8554872
G Vcpkmt valosin containing protein lysine methyltransferase JBrowse link 6 91,880,342 91,884,336 RGD:8554872
lysinuric protein intolerance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc7a7 solute carrier family 7 member 7 JBrowse link 15 33,013,346 33,059,733 RGD:1624296
RGD:8554872
RGD:7240710
MALEYLACETOACETATE ISOMERASE DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstz1 glutathione S-transferase zeta 1 JBrowse link 6 111,176,798 111,187,246 RGD:8554872
RGD:7240710
maple syrup urine disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcat2 branched chain amino acid transaminase 2 JBrowse link 1 101,553,900 101,572,103 RGD:1300291
RGD:11554173
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha JBrowse link 1 82,423,291 82,452,094 RGD:737779
RGD:8554872
RGD:7240710
RGD:734637
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:1599466
RGD:8554872
RGD:7240710
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:7240710
RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
RGD:13592920
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K JBrowse link 4 88,694,395 88,721,374 RGD:8554872
RGD:7240710
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha JBrowse link 1 82,423,291 82,452,094 RGD:8554872
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:8554872
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:8554872
Maternal Phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601526
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:2308873
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:8554872
RGD:7240710
G Bbof1 basal body orientation factor 1 JBrowse link 6 108,123,855 108,149,613 RGD:8554872
methylmalonic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:11554173
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:11554173
G Crabp2 cellular retinoic acid binding protein 2 JBrowse link 2 187,322,416 187,326,794 RGD:11554173
G Cycs cytochrome c, somatic JBrowse link 4 80,331,226 80,333,326 RGD:11554173
G Gpd2 glycerol-3-phosphate dehydrogenase 2 JBrowse link 3 43,223,892 43,359,069 RGD:11554173
G Mcee methylmalonyl CoA epimerase JBrowse link 1 125,229,487 125,252,692 RGD:8554872
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mmadhc metabolism of cobalamin associated D JBrowse link 3 35,783,511 35,801,474 RGD:8554872
G Mmut methylmalonyl-CoA mutase JBrowse link 9 23,323,934 23,352,144 RGD:11554173
RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:8554872
G Septin11 septin 11 JBrowse link 14 16,369,544 16,405,645 RGD:11554173
G Septin2 septin 2 JBrowse link 9 100,624,876 100,658,053 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Suclg2 succinate-CoA ligase, GDP-forming, beta subunit JBrowse link 4 127,552,100 127,824,970 RGD:11554173
methylmalonic acidemia cblA type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:7240710
RGD:8554872
methylmalonic acidemia cblB type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:7240710
RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:8554872
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd320 CD320 molecule JBrowse link 7 18,700,445 18,706,244 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:7240710
RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
RGD:7240710
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmadhc metabolism of cobalamin associated D JBrowse link 3 35,783,511 35,801,474 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7240710
RGD:8554872
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:7240710
RGD:8554872
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Man2b1 mannosidase, alpha, class 2B, member 1 JBrowse link 19 26,196,797 26,216,981 RGD:8554872
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mmut methylmalonyl-CoA mutase JBrowse link 9 23,323,934 23,352,144 RGD:7240710
RGD:8554872
RGD:13208535
RGD:13208534
RGD:11526224
Methylmalonyl-CoA Epimerase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcee methylmalonyl CoA epimerase JBrowse link 1 125,229,487 125,252,692 RGD:7240710
RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:8554872
multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Etfa electron transfer flavoprotein subunit alpha JBrowse link 8 60,028,786 60,086,352 RGD:7240710
RGD:8554872
G Etfb electron transfer flavoprotein subunit beta JBrowse link 1 98,472,776 98,486,940 RGD:7240710
RGD:8554872
G Etfdh electron transfer flavoprotein dehydrogenase JBrowse link 2 178,367,547 178,389,641 RGD:7240710
RGD:8554872
G Flad1 flavin adenine dinucleotide synthetase 1 JBrowse link 2 188,726,994 188,736,462 RGD:8554872
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:7240710
RGD:8554872
N-Acetyl Glutamate Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:7240710
RGD:11554173
N-Acetylaspartate Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nat8l N-acetyltransferase 8-like JBrowse link 14 82,041,616 82,048,251 RGD:7240710
RGD:8554872
Neonatal-Onset Citrullinemia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:7240710
RGD:8554872
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
Neu-Laxova syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:7240710
RGD:8554872
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:13592920
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694339
RGD:7240710
RGD:8554872
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
Ocular Albinism Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:11354899
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
RGD:13592920
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872
RGD:13592920
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:1599687
RGD:8554872
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599686
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:1599692
RGD:8554872
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694340
RGD:8694337
RGD:8694335
RGD:8694334
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:7240710
RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:7240710
RGD:8554872
RGD:9491836
RGD:9491830
RGD:9491821
RGD:9491820
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:7240710
RGD:8554872
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:1599921
RGD:8554872
RGD:7240710
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin expression factor 2 JBrowse link 3 117,353,490 117,389,582 RGD:8554872
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:8554872
RGD:7240710
oculocutaneous albinism type VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrmda leucine rich melanocyte differentiation associated JBrowse link 15 1,269,869 2,346,246 RGD:7240710
RGD:8554872
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743607
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144079
RGD:8554872
RGD:7240710
RGD:11554173
RGD:4144085
RGD:1600998
RGD:1600999
ornithine translocase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps31 mitochondrial ribosomal protein S31 JBrowse link 16 74,467,874 74,504,834 RGD:8554872
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:7240710
RGD:8554872
pentosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcxr dicarbonyl and L-xylulose reductase JBrowse link 10 109,906,119 109,909,696 RGD:7240710
RGD:8554872
RGD:11554173
phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:5509818
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068874
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449120
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210766
G Hnf1a HNF1 homeobox A JBrowse link 12 47,407,811 47,433,342 RGD:13592920
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:9693700
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601521
RGD:8554872
RGD:13207451
RGD:7240710
RGD:1601523
RGD:1358249
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 JBrowse link 20 30,689,690 30,696,465 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:1601576
G Qdpr quinoid dihydropteridine reductase JBrowse link 14 70,164,682 70,178,284 RGD:1601577
RGD:11554173
RGD:8554872
PHGDH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738207
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:1600045
RGD:8554872
RGD:12910729
RGD:7240710
G Snai2 snail family transcriptional repressor 2 JBrowse link 11 90,404,421 90,406,730 RGD:1600041
RGD:8554872
RGD:7240710
Prolidase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pepd peptidase D JBrowse link 1 90,820,670 91,285,128 RGD:7240710
RGD:8554872
RGD:11554173
propionic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggact gamma-glutamylamine cyclotransferase JBrowse link 15 109,307,683 109,336,779 RGD:8554872
G Pcca propionyl-CoA carboxylase subunit alpha JBrowse link 15 108,960,509 109,306,879 RGD:7240710
RGD:8554872
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:7240710
RGD:8554872
PSAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:7240710
RGD:8554872
PSPH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:7240710
RGD:8554872
Saccharopinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aass aminoadipate-semialdehyde synthase JBrowse link 4 50,152,005 50,208,935 RGD:7240710
RGD:8554872
Sarcosinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sardh sarcosine dehydrogenase JBrowse link 3 5,737,203 5,802,153 RGD:7240710
RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin expression factor 2 JBrowse link 3 117,353,490 117,389,582 RGD:8554872
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:8554872
RGD:11554173
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:7240710
RGD:8554872
RGD:11554173
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link 17 42,085,027 42,131,344 RGD:8554872
systemic primary carnitine deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf167 ring finger protein 167 JBrowse link 10 57,268,331 57,272,667 RGD:8554872
G Slc22a5 solute carrier family 22 member 5 JBrowse link 10 39,201,101 39,228,090 RGD:1580611
RGD:8554872
RGD:11554173
RGD:7240710
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
RGD:8554872
tyrosinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fah fumarylacetoacetate hydrolase JBrowse link 1 146,713,663 146,736,339 RGD:737743
RGD:8554872
RGD:11554173
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:8554872
RGD:11554173
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:1600125
RGD:11554173
RGD:8554872
tyrosinemia type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fah fumarylacetoacetate hydrolase JBrowse link 1 146,713,663 146,736,339 RGD:8554872
RGD:14401588
RGD:14401587
RGD:14398827
RGD:14398823
RGD:7240710
G Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli RGD:14398827
tyrosinemia type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:7240710
RGD:8554872
tyrosinemia type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872
Urocanase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uroc1 urocanate hydratase 1 JBrowse link 4 122,244,744 122,276,357 RGD:7240710
RGD:8554872
RGD:11554173
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kynu kynureninase JBrowse link 3 28,416,926 28,566,939 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            2-Methylacetoacetyl CoA Thiolase Deficiency 0
            2-Methylbutyryl-CoA Dehydrogenase Deficiency 1
            2-aminoadipic 2-oxoadipic aciduria 2
            2-hydroxyglutaric aciduria + 8
            3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 2
            3-Hydroxyisobutyric Aciduria 0
            5-Oxoprolinase Deficiency 1
            Adams Nance Syndrome 0
            Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
            Albinism + 48
            Alpha-Ketoglutarate Dehydrogenase Deficiency 1
            Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
            Aminoacylase 1 Deficiency 1
            Arakawa Syndrome 2 1
            Asparagine Synthetase Deficiency 1
            BH4-deficient hyperphenylalaninemia A 2
            Beta-Aminoisobutyric Acid, Urinary Excretion of 1
            Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
            Blue Diaper Syndrome 0
            Brunner syndrome 1
            Camptodactyly Taurinuria 0
            Carboxypeptidase N Deficiency 1
            Cysteine Peptiduria 0
            Diaminopentanuria 0
            Dibasic Amino Aciduria I 0
            Dimethylglycine Dehydrogenase Deficiency 1
            GABA aminotransferase deficiency 3
            GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
            Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
            Glucoglycinuria 0
            Glutamate Monosodium Sensitivity 0
            Glutamine Deficiency, Congenital 1
            Glutaric Aciduria + 4
            Glutathione Synthetase Deficiency 1
            Glycinuria with or without Oxalate Urolithiasis 3
            Hartnup disease 1
            Hydroxykynureninuria 1
            Hydroxyprolinemia 0
            Hyperleucine-Isoleucinemia 0
            Hypertaurinuric Cardiomyopathy 0
            Hypertryptophanemia 0
            Hypertryptophanemia, Familial 1
            IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
            Ichthyosis, Split Hairs, and Amino Aciduria 0
            Indolylacroyl Glycinuria with Mental Retardation 0
            Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
            Isobutyryl-CoA Dehydrogenase Deficiency 1
            Ketoadipicaciduria 0
            Lysine Malabsorption Syndrome 0
            MALEYLACETOACETATE ISOMERASE DEFICIENCY 1
            Mercaptolactate-Cysteine Disulfiduria 0
            Methionine Malabsorption Syndrome 0
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
            Methylmalonyl-CoA Epimerase Deficiency + 1
            Mitochondrial Complex I Deficiency, Nuclear Type 20 3
            Myopathy due to Malate-Aspartate Shuttle Defect 0
            N-Acetylaspartate Deficiency 1
            Prolidase Deficiency 1
            Richards-Rundle Syndrome 0
            Sarcosinemia 1
            Tiglic Acidemia 0
            Tryptophanuria with Dwarfism 0
            Tyrosinosis 0
            Urocanase Deficiency 1
            Valinemia 0
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
            adenine phosphoribosyltransferase deficiency 2
            adenylosuccinase lyase deficiency 1
            alkaptonuria + 1
            argininosuccinic aciduria 1
            aromatic L-amino acid decarboxylase deficiency 1
            beta-ketothiolase deficiency 2
            branched-chain keto acid dehydrogenase kinase deficiency 38
            cerebral creatine deficiency syndrome + 12
            cystathioninuria 1
            cystinuria + 6
            dicarboxylic aminoaciduria 2
            fumarase deficiency 1
            gamma-amino butyric acid metabolism disorder + 6
            gamma-glutamyl transpeptidase deficiency 1
            glycine encephalopathy + 10
            histidine metabolism disease + 1
            histidinemia 1
            homocystinuria + 8
            hyperhomocysteinemia + 44
            hyperlysinemia + 1
            hypermethioninemia + 4
            hyperprolinemia + 3
            isolated sulfite oxidase deficiency 1
            isovaleric acidemia 1
            lysinuric protein intolerance 1
            maple syrup urine disease + 7
            methylmalonic acidemia + 22
            mitochondrial DNA depletion syndrome 5 1
            multiple acyl-CoA dehydrogenase deficiency + 4
            multiple carboxylase deficiency + 10
            organic acidemia + 48
            ornithine translocase deficiency 2
            pentosuria 1
            phenylketonuria + 13
            propionic acidemia + 3
            serine deficiency + 4
            succinic semialdehyde dehydrogenase deficiency 2
            systemic primary carnitine deficiency disease 2
            tyrosinemia + 6
            urea cycle disorder + 15
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1864
            amino acid metabolic disorder 326
              2-Methylacetoacetyl CoA Thiolase Deficiency 0
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 1
              2-aminoadipic 2-oxoadipic aciduria 2
              2-hydroxyglutaric aciduria + 8
              3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 2
              3-Hydroxyisobutyric Aciduria 0
              5-Oxoprolinase Deficiency 1
              Adams Nance Syndrome 0
              Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
              Albinism + 48
              Alpha-Ketoglutarate Dehydrogenase Deficiency 1
              Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
              Aminoacylase 1 Deficiency 1
              Arakawa Syndrome 2 1
              Asparagine Synthetase Deficiency 1
              BH4-deficient hyperphenylalaninemia A 2
              Beta-Aminoisobutyric Acid, Urinary Excretion of 1
              Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
              Blue Diaper Syndrome 0
              Brunner syndrome 1
              Camptodactyly Taurinuria 0
              Carboxypeptidase N Deficiency 1
              Cysteine Peptiduria 0
              Diaminopentanuria 0
              Dibasic Amino Aciduria I 0
              Dimethylglycine Dehydrogenase Deficiency 1
              GABA aminotransferase deficiency 3
              GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
              Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
              Glucoglycinuria 0
              Glutamate Monosodium Sensitivity 0
              Glutamine Deficiency, Congenital 1
              Glutaric Aciduria + 4
              Glutathione Synthetase Deficiency 1
              Glycinuria with or without Oxalate Urolithiasis 3
              Hartnup disease 1
              Hydroxykynureninuria 1
              Hydroxyprolinemia 0
              Hyperleucine-Isoleucinemia 0
              Hypertaurinuric Cardiomyopathy 0
              Hypertryptophanemia 0
              Hypertryptophanemia, Familial 1
              IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
              Ichthyosis, Split Hairs, and Amino Aciduria 0
              Indolylacroyl Glycinuria with Mental Retardation 0
              Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
              Isobutyryl-CoA Dehydrogenase Deficiency 1
              Ketoadipicaciduria 0
              Lysine Malabsorption Syndrome 0
              MALEYLACETOACETATE ISOMERASE DEFICIENCY 1
              Mercaptolactate-Cysteine Disulfiduria 0
              Methionine Malabsorption Syndrome 0
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
              Methylmalonyl-CoA Epimerase Deficiency + 1
              Mitochondrial Complex I Deficiency, Nuclear Type 20 3
              Myopathy due to Malate-Aspartate Shuttle Defect 0
              N-Acetylaspartate Deficiency 1
              Prolidase Deficiency 1
              Richards-Rundle Syndrome 0
              Sarcosinemia 1
              Tiglic Acidemia 0
              Tryptophanuria with Dwarfism 0
              Tyrosinosis 0
              Urocanase Deficiency 1
              Valinemia 0
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
              adenine phosphoribosyltransferase deficiency 2
              adenylosuccinase lyase deficiency 1
              alkaptonuria + 1
              argininosuccinic aciduria 1
              aromatic L-amino acid decarboxylase deficiency 1
              beta-ketothiolase deficiency 2
              branched-chain keto acid dehydrogenase kinase deficiency 38
              cerebral creatine deficiency syndrome + 12
              cystathioninuria 1
              cystinuria + 6
              dicarboxylic aminoaciduria 2
              fumarase deficiency 1
              gamma-amino butyric acid metabolism disorder + 6
              gamma-glutamyl transpeptidase deficiency 1
              glycine encephalopathy + 10
              histidine metabolism disease + 1
              histidinemia 1
              homocystinuria + 8
              hyperhomocysteinemia + 44
              hyperlysinemia + 1
              hypermethioninemia + 4
              hyperprolinemia + 3
              isolated sulfite oxidase deficiency 1
              isovaleric acidemia 1
              lysinuric protein intolerance 1
              maple syrup urine disease + 7
              methylmalonic acidemia + 22
              mitochondrial DNA depletion syndrome 5 1
              multiple acyl-CoA dehydrogenase deficiency + 4
              multiple carboxylase deficiency + 10
              organic acidemia + 48
              ornithine translocase deficiency 2
              pentosuria 1
              phenylketonuria + 13
              propionic acidemia + 3
              serine deficiency + 4
              succinic semialdehyde dehydrogenase deficiency 2
              systemic primary carnitine deficiency disease 2
              tyrosinemia + 6
              urea cycle disorder + 15
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.