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: Acidoses
Accession: DOID:9002802
browse the term
Definition: A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.
Synonyms: exact_synonym: acidosis
primary_id: MESH:D000138
alt_id: RDO:0003385
For additional species annotation, visit the
Alliance of Genome Resources .
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Adm
adrenomedullin
IDA
associated with Hemorrhage
RGD
PMID:17255858
RGD:1625312
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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Amt
aminomethyltransferase
IDA
RGD
PMID:3877504
RGD:1599107
NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
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Cldn14
claudin 14
IEP
mRNA:increased expression:duodenum
RGD
PMID:17383680
RGD:1600867
NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
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Cps1
carbamoyl-phosphate synthase 1
IEP
protein:increased activity:liver (rat)
RGD
PMID:9472964
RGD:4144071
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
IDA
RGD
PMID:6282936
RGD:2307324
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Nfe2l2
nuclear factor, erythroid 2-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29618784
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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Otc
ornithine transcarbamylase
IEP
protein:increased activity:liver (rat)
RGD
PMID:9472964
RGD:4144071
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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Slc26a4
solute carrier family 26 member 4
IEP
mRNA:decreased expression:renal cortex (rat)
RGD
PMID:12388388
RGD:634144
NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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Slc34a1
solute carrier family 34 member 1
IEP ISO
protein:altered expression:kidney, brush border membrane (rat) mRNA:decreased expression:kidney (mouse)
RGD
PMID:19439519 , PMID:18535837
RGD:7242944 , RGD:7242948
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Slc6a14
solute carrier family 6 member 14
IEP
mRNA:increased expression:jejunum
RGD
PMID:15300171
RGD:1625278
NCBI chr X:120,624,522...120,647,964
Ensembl chr X:120,624,518...120,649,111
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Slc9a4
solute carrier family 9 member A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20484819
NCBI chr 9:47,281,821...47,334,755
Ensembl chr 9:47,281,961...47,328,839
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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
NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
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Mrps16
mitochondrial ribosomal protein S16
ISO
ClinVar Annotator: match by OMIM:610498
OMIM ClinVar
PMID:15505824
NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
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Avil
advillin
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar
NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar Annotator: match by null
OMIM ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532
NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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Pc
pyruvate carboxylase
ISO
ClinVar Annotator: match by term: Congenital lactic acidosis
ClinVar
PMID:32581362
NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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Pet100
PET100 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Congenital lactic acidosis
ClinVar
PMID:25293719 PMID:25741868
NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251
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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:9934985 PMID:10448086 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 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:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:27144126 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
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Aqp2
aquaporin 2
ISO
RGD
PMID:12021537
RGD:2314345
NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
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Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11430560
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Insr
insulin receptor
ISO
RGD
PMID:15254588
RGD:1302526
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Pax4
paired box 4
susceptibility
ISO
ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to
ClinVar OMIM
PMID:15509590 PMID:18414213 PMID:25741868
NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
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Serpina7
serpin family A member 7
ISO
protein:decreased expression:serum
RGD
PMID:6768790
RGD:2312332
NCBI chr X:110,226,565...110,232,202
Ensembl chr X:110,226,572...110,232,179
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I ClinVar Annotator: match by term: Renal tubular acidosis, autosomal dominant
ClinVar OMIM
PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:2146504 PMID:2196932 PMID:2527366 PMID:4116984 PMID:7812009 PMID:8206915 PMID:8210309 PMID:8343110 PMID:8471774 PMID:8608262 PMID:8704215 PMID:9312167 PMID:9600966 PMID:9734643 PMID:10926824 PMID:11155072 PMID:19229254 PMID:21039340 PMID:22126643 PMID:23255290 PMID:24033266 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:28492532
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Atp6v1b1
ATPase H+ transporting V1 subunit B1
ISO
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with progressive deafness ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness ClinVar Annotator: match by OMIM:267300
ClinVar OMIM
PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16611712 PMID:16769747 PMID:17669226 PMID:18368028 PMID:18798332 PMID:22509993 PMID:23923981 PMID:24033266 PMID:24448499 PMID:25285676 PMID:25296721 PMID:25741868 PMID:26453614 PMID:26467025 PMID:27247958 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28893421 PMID:29310826 PMID:30558562
NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
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Atp6v0a4
ATPase H+ transporting V0 subunit a4
ISO
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive ClinVar Annotator: match by null
OMIM ClinVar
PMID:10973252 PMID:12414817 PMID:16611712 PMID:19364879 PMID:23754897 PMID:24033266 PMID:24252324 PMID:25741868 PMID:26208211 PMID:27247958 PMID:28492532 PMID:29311258
NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
RGD
PMID:17409310
RGD:13208934
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Tmem213
transmembrane protein 213
ISO
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar
NCBI chr 4:65,800,410...65,823,205
Ensembl chr 4:65,801,505...65,807,365
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar Annotator: match by OMIM:611590
OMIM ClinVar
PMID:9207478 PMID:9312167 PMID:9854053 PMID:10926824 PMID:10942416 PMID:12087557 PMID:12938018 PMID:15211439 PMID:22126643 PMID:25741868
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar
PMID:30028003
NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by null
ClinVar
PMID:15211439
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: GRACILE syndrome ClinVar Annotator: match by OMIM:603358
OMIM ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:31435670
NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by OMIM:617021 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:30737337 PMID:32442335
NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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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:25741868 PMID:26467025 PMID:27923773 PMID:28492532
NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
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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
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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
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Apoo
apolipoprotein O
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
NCBI chr X:63,521,033...63,625,134
Ensembl chr X:63,520,991...63,625,134
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Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17460227
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Seizures and lactic acidosis
ClinVar
PMID:8739943 PMID:12915481
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Seizures and lactic acidosis
ClinVar
PMID:8739943 PMID:12915481
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISS
MouseDO
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Ndufs4
NADH:ubiquinone oxidoreductase subunit S4
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
PMID:25741868
NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2537010
NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25331496
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Pygl
glycogen phosphorylase L
IAGP
DNA:mutation:multiple
RGD
PMID:17705025
RGD:11071447
NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138848
NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
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Uqcrfs1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
PMID:31883641
NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
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Car1
carbonic anhydrase 1
ISO
ClinVar Annotator: match by term: Metabolic acidosis
ClinVar
PMID:25741868
NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
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Dab2
DAB adaptor protein 2
IEP
protein:decreased expression:brush border membrane
RGD
PMID:22357915
RGD:7243154
NCBI chr 2:55,747,353...55,768,848
Ensembl chr 2:55,747,318...55,768,270
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Edn1
endothelin 1
treatment
IDA
RGD
PMID:17255858
RGD:1625312
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Metabolic acidosis
ClinVar
PMID:25741868
NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
NCBI chr10:99,330,894...99,391,551
Ensembl chr10:99,388,130...99,389,898
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Kcnj16em1Mcwi
potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
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Myh9
myosin, heavy chain 9
IEP
protein:increased expression:brush border membrane
RGD
PMID:22357915
RGD:7243154
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Rhcg
Rh family, C glycoprotein
IEP
protein:increased expression:medulla, kidney collecting duct intercalated cell
RGD
PMID:16144966
RGD:8554685
NCBI chr 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
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Slc38a3
solute carrier family 38, member 3
treatment
IEP
RGD
PMID:16954343
RGD:9999224
NCBI chr 8:116,406,258...116,423,752
Ensembl chr 8:116,406,241...116,422,366
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
IEP
protein:increased expression:renal cortex, renal medulla (rat)
RGD
PMID:19439519
RGD:7242944
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Suclg1
succinate-CoA ligase GDP/ADP-forming subunit alpha
ISO
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) ClinVar Annotator: match by OMIM:245400
OMIM ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20453710 PMID:20693550 PMID:21639866 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29217198
NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
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Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis
ClinVar OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532
NCBI chr 6:64,224,870...64,288,465
Ensembl chr 6:64,224,861...64,286,785
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Mpc1
mitochondrial pyruvate carrier 1
ISO
ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency ClinVar Annotator: match by OMIM:614741
OMIM ClinVar
PMID:12649063 PMID:22628558
NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
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Slc16a1
solute carrier family 16 member 1
ISO
ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive
OMIM ClinVar
PMID:25741868
NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
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Iscu
iron-sulfur cluster assembly enzyme
ISO
ClinVar Annotator: match by OMIM:255125
OMIM ClinVar
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 PMID:21165651 PMID:22125086
NCBI chr12:48,621,454...48,627,297
Ensembl chr12:48,621,454...48,627,297
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Acad9
acyl-CoA dehydrogenase family, member 9
ISO
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:611126
OMIM ClinVar CTD
PMID:7599230 PMID:17564966 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:32313153
NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
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Cfap92
cilia and flagella associated protein 92
ISO
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
ClinVar
PMID:21057504 PMID:22499348 PMID:25326637 PMID:27233227 PMID:28492532
NCBI chr 4:119,572,669...119,626,852
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Slc4a4
solute carrier family 4 member 4
ISO
ClinVar Annotator: match by term: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation ClinVar Annotator: match by OMIM:604278
OMIM ClinVar
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 PMID:23362273 PMID:25741868 PMID:28492532
NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:36,930,186...37,054,968
Ensembl chr X:36,930,186...37,003,642
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Map3k15
mitogen-activated protein kinase kinase kinase 15
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:25741868
NCBI chr X:37,342,251...37,755,373
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8962591 PMID:9266390 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10775534 PMID:11102541 PMID:11241048 PMID:12379317 PMID:12551913 PMID:17043409 PMID:18023225 PMID:18197404 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:21735565 PMID:21846590 PMID:21914562 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26633542 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:31673819
NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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Pdhx
pyruvate dehydrogenase complex, component X
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,970,650...36,926,616
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Ppef1
protein phosphatase with EF-hand domain 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,822,687...35,947,690
Ensembl chr X:35,869,538...35,947,282
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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Dlat
dihydrolipoamide S-acetyltransferase
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar Annotator: match by OMIM:245348
OMIM ClinVar
PMID:16049940 PMID:25741868 PMID:28492532 PMID:29093066
NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
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Pih1d2
PIH1 domain containing 2
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
ClinVar
PMID:16049940 PMID:28492532
NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
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Apip
APAF1 interacting protein
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
ClinVar
NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
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Pdhx
pyruvate dehydrogenase complex, component X
ISO
ClinVar Annotator: match by OMIM:245349 ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency ClinVar Annotator: match by null
ClinVar OMIM
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:17152059 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Pdhb
pyruvate dehydrogenase E1 subunit beta
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency
ClinVar
PMID:28492532
NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
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Pdp1
pyruvate dehydrogenase phosphatase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar Annotator: match by OMIM:608782 ClinVar Annotator: match by null
OMIM ClinVar
PMID:15855260 PMID:19184109 PMID:31392110
NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288
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Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
OMIM ClinVar
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576
NCBI chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225
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Atp6v0a4
ATPase H+ transporting V0 subunit a4
susceptibility
ISO ISS
OMIM:179830 | OMIM:267200 | OMIM:602722
MouseDO
PMID:10973252
RGD:1599383
NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
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Atp6v1b1
ATPase H+ transporting V1 subunit B1
susceptibility
ISO
RGD
PMID:9916796
RGD:1599372
NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
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Ctsb
cathepsin B
IEP
protein:decreased activity:renal proximal tubule (rat)
RGD
PMID:7873730
RGD:2315534
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IEP
mRNA:increased expression:adrenal gland (rat)
RGD
PMID:16495212
RGD:4891416
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO IEP
DNA:mutations:multiple (human) mRNA,protein:increased expression:kidney: CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A858D (human)
CTD
PMID:9312167 PMID:23460825 , PMID:22919024 , PMID:10600930 , PMID:22126643
RGD:10450480 , RGD:13208945 , RGD:10450481
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Slc4a4
solute carrier family 4 member 4
susceptibility
ISO
DNA:point mutations: ; 1043A>C, 1678G>A CTD Direct Evidence: marker/mechanism
CTD
PMID:18614622 , PMID:10545938
RGD:61794
NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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Oxct1
3-oxoacid CoA transferase 1
ISO
ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency ClinVar Annotator: match by OMIM:245050
OMIM ClinVar
PMID:1405472 PMID:8751852 PMID:9392403 PMID:9671268 PMID:10964512 PMID:20818383 PMID:21296660 PMID:23281106 PMID:23420214 PMID:23757202 PMID:25741868 PMID:28492532 PMID:31216074
NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
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