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.
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Cga
glycoprotein hormones, alpha polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20146381
NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
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Mrap
melanocortin 2 receptor accessory protein
ISS
MouseDO
NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency
ClinVar
PMID:9326943 PMID:11549685 PMID:12466376
NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46,XX gonadal dysgenesis
ClinVar
PMID:29566152
NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Serkal syndrome ClinVar Annotator: match by OMIM:611812
OMIM ClinVar
PMID:18179883 PMID:25741868
NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Armc5
armadillo repeat containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
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Gcgr
glucagon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20529775
NCBI chr10:109,707,863...109,716,253
Ensembl chr10:109,707,962...109,716,128
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA DNA:missense mutations:exon:p.R201S, p.R201H (human) ClinVar Annotator: match by OMIM:219080
OMIM ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 , PMID:12727968
RGD:11568052
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Armc5
armadillo repeat containing 5
ISO
ClinVar Annotator: match by term: Acth-independent macronodular adrenal hyperplasia 2
OMIM ClinVar
PMID:24283224 PMID:24601692 PMID:24905064
NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by synonym: Addison's disease ClinVar Annotator: match by term: Addison's disease
ClinVar
PMID:7581394 PMID:7668254 PMID:8040304 PMID:8773611 PMID:10190819 PMID:11248239 PMID:11748843 PMID:12530690 PMID:12624723 PMID:14767898 PMID:15032602 PMID:15811009 PMID:16087056 PMID:17542813 PMID:17990484 PMID:21476988 PMID:22479560 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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Ciita
class II, major histocompatibility complex, transactivator
ISO
DNA:polymorphism:intron:rs8048002T>C (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18593762 , PMID:18593762
RGD:5491177
NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
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Clec16a
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs12917716C (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18593762 , PMID:18593762
RGD:5491177
NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp: cds: rs2476601
RGD
PMID:18301444
RGD:6484549
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human) DNA:repeat (human)
RGD
PMID:20455895 , PMID:12072047
RGD:5147608 , RGD:5147829
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:21816777 , PMID:19858318
RGD:5147553 , RGD:5147588
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Adrenal carcinoma
ClinVar
PMID:12068308 PMID:14612909 PMID:14679157 PMID:14688025 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:22310681 PMID:23352452 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29595366
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Adrenal carcinoma
ClinVar
PMID:9065403 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Adrenal carcinoma
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Adrenal carcinoma
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Adrenal carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Ptn
pleiotrophin
ISO
human gene in a mouse model
RGD
PMID:1464602
RGD:9831442
NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Adrenal carcinoma
ClinVar
PMID:1565144 PMID:1918170 PMID:2826609 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7887414 PMID:8080050 PMID:8164043 PMID:8336941 PMID:8423216 PMID:8479749 PMID:8869100 PMID:9020384 PMID:9157982 PMID:9242456 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9569050 PMID:9572492 PMID:10229196 PMID:10567903 PMID:10864200 PMID:10871862 PMID:11051241 PMID:11429705 PMID:11793474 PMID:11896595 PMID:11920788 PMID:12034820 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12826609 PMID:12901974 PMID:12917626 PMID:14584079 PMID:15017592 PMID:15037740 PMID:15390294 PMID:15607980 PMID:15951970 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16736287 PMID:16861262 PMID:17401428 PMID:17540308 PMID:17541742 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18208484 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18989156 PMID:19147582 PMID:19336573 PMID:19367569 PMID:19468865 PMID:19681600 PMID:19850740 PMID:20127978 PMID:20128691 PMID:20407015 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:21159183 PMID:21343334 PMID:21470402 PMID:21484931 PMID:21535297 PMID:21552135 PMID:21626334 PMID:21761402 PMID:22710932 PMID:22768918 PMID:22811390 PMID:22847613 PMID:22899716 PMID:23161690 PMID:23259501 PMID:23894400 PMID:23967324 PMID:24033266 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24641375 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24940547 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25584008 PMID:25584637 PMID:25741868 PMID:25787918 PMID:25896519 PMID:26014290 PMID:26270727 PMID:26467025 PMID:26556299 PMID:26619011 PMID:26681312 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27374712 PMID:27458004 PMID:27533082 PMID:27724982 PMID:27730344 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29070607 PMID:29489754 PMID:29753700 PMID:29979965 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30311369 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32401780
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11370731
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Adrenal cortical tumor, somatic
ClinVar
PMID:2116665
NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Adrenal cortical tumor, somatic
ClinVar
PMID:12203783 PMID:14500362
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Tp53
tumor protein p53
ISO
DNA:missense mutation::p.R337H (human)
RGD
PMID:28387921
RGD:14995484
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma
ClinVar
PMID:23416519
NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma
ClinVar
PMID:23416519
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
mRNA:decreased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
mRNA:increased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
mRNA:increased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human)
RGD
PMID:24855271
RGD:13515122
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29669941
NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Hyperadrenocorticism
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Cdc42
cell division cycle 42
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19261682
NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875 Ensembl chr15:44,442,555...44,442,875
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Gnrhr
gonadotropin releasing hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19131502
NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15492235
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747643
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19131502
NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:201810
OMIM ClinVar CTD
PMID:295036 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:8316254 PMID:9719627 PMID:10486704 PMID:10599696 PMID:10770215 PMID:10843183 PMID:10973654 PMID:11196452 PMID:11287026 PMID:12050213 PMID:14966389 PMID:16648810 PMID:17689071 PMID:18252794 PMID:24033266 PMID:25526675 PMID:26288759 PMID:27796263 PMID:28492532 PMID:31611844
NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
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Bax
BCL2 associated X, apoptosis regulator
IEP
associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex
RGD
PMID:21161352
RGD:6482719
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl2
BCL2, apoptosis regulator
IEP
associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex
RGD
PMID:21161352
RGD:6482719
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10369247
NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
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Pla2g2a
phospholipase A2 group IIA
IEP
associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland
RGD
PMID:21161352
RGD:6482719
NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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Pomc
proopiomelanocortin
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Scnn1b
sodium channel epithelial 1 subunit beta
ISO
Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X
RGD
PMID:7954808
RGD:1624136
NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
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Tbx19
T-box transcription factor 19
ISO
ClinVar Annotator: match by term: Adrenal insufficiency
ClinVar
NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12015757
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar Annotator: match by term: Adrenocortical Carcinoma
CTD ClinVar
PMID:12068308 PMID:14612909 PMID:14679157 PMID:14688025 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:22310681 PMID:23352452 PMID:23585556 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29595366
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar Annotator: match by term: Adrenocortical Carcinoma
CTD ClinVar
PMID:9065403 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:23265383 PMID:24747642 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Daxx
death-domain associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23585556
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Adrenocortical Carcinoma
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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H3f3a
H3.3 histone A
ISO
ClinVar Annotator: match by term: Adrenocortical Carcinoma
ClinVar
PMID:26619011
NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
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Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22407999
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21521927 PMID:23417626
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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Men1
menin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Adrenocortical Carcinoma ClinVar Annotator: match by term: Adrenocortical carcinoma
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Adrenocortical Carcinoma ClinVar Annotator: match by term: Adrenocortical carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Rrm1
ribonucleotide reductase catalytic subunit M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22547773
NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
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Sparc
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22156929
NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533247
NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar Annotator: match by term: Adrenocortical Carcinoma
CTD ClinVar
PMID:1565144 PMID:1918170 PMID:2826609 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7887414 PMID:8023157 PMID:8080050 PMID:8164043 PMID:8336941 PMID:8423216 PMID:8479749 PMID:8869100 PMID:9020384 PMID:9157982 PMID:9242456 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9569050 PMID:9572492 PMID:9815696 PMID:10229196 PMID:10567903 PMID:10864200 PMID:10871862 PMID:11051241 PMID:11429705 PMID:11793474 PMID:11896595 PMID:11920788 PMID:12034820 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12826609 PMID:12901974 PMID:12917626 PMID:14584079 PMID:15017592 PMID:15037740 PMID:15390294 PMID:15607980 PMID:15951970 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16736287 PMID:16861262 PMID:17401428 PMID:17540308 PMID:17541742 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18208484 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18989156 PMID:19147582 PMID:19336573 PMID:19367569 PMID:19468865 PMID:19681600 PMID:19850740 PMID:20127978 PMID:20128691 PMID:20407015 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:21159183 PMID:21343334 PMID:21470402 PMID:21484931 PMID:21535297 PMID:21552135 PMID:21626334 PMID:21761402 PMID:22710932 PMID:22768918 PMID:22811390 PMID:22847613 PMID:22899716 PMID:23161690 PMID:23259501 PMID:23585556 PMID:23894400 PMID:23967324 PMID:24033266 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24641375 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24747642 PMID:24940547 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25584008 PMID:25584637 PMID:25741868 PMID:25787918 PMID:25896519 PMID:26014290 PMID:26270727 PMID:26467025 PMID:26556299 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27374712 PMID:27458004 PMID:27533082 PMID:27724982 PMID:27730344 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29070607 PMID:29489754 PMID:29753700 PMID:29979965 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30311369 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32401780
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Znrf3
zinc and ring finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747642
NCBI chr14:85,527,099...85,586,294
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
OMIM
NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
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Rpe65
retinoid isomerohydrolase RPE65
ISO
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
ClinVar
PMID:25741868 PMID:30576320
NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
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Tbx19
T-box transcription factor 19
ISO
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar Annotator: match by OMIM:201400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2830787 PMID:11290323 PMID:12651888 PMID:15476446 PMID:16390921 PMID:17652218 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
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Abcd1
ATP binding cassette subfamily D member 1
susceptibility
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE ClinVar Annotator: match by term: Adrenomyeloneuropathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:300100 ClinVar Annotator: match by null
ClinVar CTD OMIM
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9425230 PMID:9452087 PMID:9553942 PMID:9556301 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:12175782 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14586615 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16672758 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17285533 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17602313 PMID:17990484 PMID:18206987 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19496984 PMID:19660195 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20301491 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22057157 PMID:22176151 PMID:22198747 PMID:22280810 PMID:22366764 PMID:22479560 PMID:22483867 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23926373 PMID:24154795 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:25275259 PMID:25324868 PMID:25741868 PMID:26227820 PMID:26260157 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26523528 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27766264 PMID:27779215 PMID:28456143 PMID:28492532 PMID:28503596 PMID:28708278 PMID:28953922 PMID:29056270 PMID:29284317 PMID:29443243 PMID:29557549 PMID:30544401 PMID:30564185 PMID:30902905 PMID:31074578 PMID:32207279 , PMID:8048932
RGD:1598655
NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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Acsbg1
acyl-CoA synthetase bubblegum family member 1
ISO
RGD
PMID:15800013
RGD:11065111
NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
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Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,873,094...156,888,762
Ensembl chr X:156,873,849...156,888,761
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,407,973...156,415,053
Ensembl chr X:156,407,937...156,415,145
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
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Bcap31
B-cell receptor-associated protein 31
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:157,094,365...157,126,397
Ensembl chr X:157,095,937...157,126,393
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Ctag2
cancer/testis antigen 2
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:148,421,627...148,422,921
Ensembl chr X:148,421,627...148,422,921
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
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Dnase1l1
deoxyribonuclease 1-like 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,429,521...156,438,066
Ensembl chr X:156,429,585...156,438,066
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Emd
emerin
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,452,847...156,455,858
Ensembl chr X:156,452,818...156,456,035
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,319,687...156,328,974
Ensembl chr X:156,319,687...156,328,309
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Fam50a
family with sequence similarity 50, member A
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,392,646...156,399,763
Ensembl chr X:156,392,630...156,399,760
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16319717
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16319717
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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Mmp10
matrix metallopeptidase 10
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:23185624
RGD:13204814
NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:23185624
RGD:13204814
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:23185624
RGD:13204814
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Mpp1
membrane palmitoylated protein 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr 1:148,450,213...148,458,945
G
Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,569,683...156,589,907
Ensembl chr X:156,569,683...156,589,907
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Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,963,343...156,993,591
Ensembl chr X:156,963,870...156,993,591
G
Pex13
peroxisomal biogenesis factor 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10441568
NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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Pex26
peroxisomal biogenesis factor 26
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12851857
NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,363,400...156,379,433
Ensembl chr X:156,363,405...156,379,189
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Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,854,490...156,863,548
Ensembl chr X:156,854,594...156,863,528
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Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,438,251...156,440,461
Ensembl chr X:156,438,251...156,440,461
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Slc10a3
solute carrier family 10, member 3
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,335,385...156,340,256
Ensembl chr X:156,336,450...156,340,234
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Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16319717
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443
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Ssr4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650
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Taz
tafazzin
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,540,442...156,569,272
Ensembl chr X:156,552,528...156,569,249
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Timp1
TIMP metallopeptidase inhibitor 1
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:23185624
RGD:13204814
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,507,797...156,540,733
Ensembl chr X:156,507,797...156,540,733
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Ubl4a
ubiquitin-like 4A
ISO
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
PMID:28492532
NCBI chr X:156,340,919...156,343,771
Ensembl chr X:156,340,925...156,343,777
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
ClinVar Annotator: match by term: Apparent mineralocorticoid excess ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:218030
OMIM ClinVar CTD
PMID:3860318 PMID:7593417 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 PMID:9683587 PMID:9683905 PMID:9707624 PMID:9851783 PMID:10536001 PMID:11085685 PMID:11238516 PMID:12788846 PMID:15126515 PMID:15134813 PMID:17314322 PMID:19075542 PMID:24123366 PMID:25526675 PMID:25593612 PMID:25741868 PMID:26467025
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Bsnd
barttin CLCNK type accessory subunit beta
ISO
Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon ClinVar Annotator: match by term: Bartter syndrome ClinVar Annotator: match by term: Bartter's syndrome
ClinVar
PMID:11687798 PMID:16583241 PMID:16773427 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009 , PMID:11687798
RGD:1600603
NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
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Clcnkb
chloride voltage-gated channel Kb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10561751
NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD ClinVar
PMID:10561751 PMID:12911542 PMID:16982955 PMID:22275899 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:929154 PMID:3519017 PMID:15976003
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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Slc12a1
solute carrier family 12 member 1
ISO
antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F CTD Direct Evidence: marker/mechanism
CTD
PMID:10561751 , PMID:8640224
RGD:1624188
NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Hyperprostaglandin E syndrome 1
ClinVar
PMID:25326637 PMID:28492532
NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar Annotator: match by OMIM:601678
OMIM ClinVar
PMID:8640224 PMID:9355073 PMID:9585600 PMID:12761241 PMID:15167446 PMID:18391953 PMID:19096086 PMID:19513753 PMID:19602640 PMID:20219833 PMID:21157372 PMID:21209010 PMID:23897314 PMID:24033266 PMID:24253496 PMID:24550759 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:30113482
NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
ISO
ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal ClinVar Annotator: match by OMIM:241200
OMIM ClinVar
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9580661 PMID:9727001 PMID:10049979 PMID:11318951 PMID:12911542 PMID:18391953 PMID:19096086 PMID:19602640 PMID:20699659 PMID:22245519 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32590952
NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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Clcnka
chloride voltage-gated channel Ka
ISO
ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar
PMID:25741868
NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
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Clcnkb
chloride voltage-gated channel Kb
ISO
ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar Annotator: match by OMIM:607364
OMIM ClinVar
PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 PMID:17185149 PMID:21631963 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24830959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28555925 PMID:32576985
NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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Bsnd
barttin CLCNK type accessory subunit beta
ISO
ClinVar Annotator: match by term: Bartter disease type 4a ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS ClinVar Annotator: match by OMIM:602522
OMIM ClinVar
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:26537508 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009
NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
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Clcnka
chloride voltage-gated channel Ka
ISO
ClinVar Annotator: match by OMIM:613090 ClinVar Annotator: match by term: Bartter syndrome, type 4b
ClinVar OMIM
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
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Clcnkb
chloride voltage-gated channel Kb
ISO
OMIM
NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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Maged2
MAGE family member D2
ISO
ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient
ClinVar OMIM
PMID:27120771
NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
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Clcnkb
chloride voltage-gated channel Kb
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar
PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532
NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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Avpr1a
arginine vasopressin receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
DNA:splice-site mutation
RGD
PMID:12161514
RGD:1599693
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD
PMID:8964882 , PMID:1430088
RGD:1600799 , RGD:734864
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO ISS
ClinVar Annotator: match by term: Congenital adrenal hyperplasia OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar MouseDO
PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16670167 PMID:17371482 PMID:20089618 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26467025 PMID:26956189 PMID:28492532
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISS
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
MouseDO
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:18645707 PMID:19636199 , PMID:2026124
RGD:4889141
NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
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Cyp21a1
cytochrome P450, family 21, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:12930931
RGD:4889127
NCBI chr20:4,486,213...4,489,358
Ensembl chr20:4,486,219...4,489,550
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD ClinVar
PMID:18252794
NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
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Htr4
5-hydroxytryptamine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18272904
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Por
cytochrome p450 oxidoreductase
ISO
DNA:missense mutations:cds:p.A287P, p.H628P (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18559916 , PMID:17505056
RGD:4889128
NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Star
steroidogenic acute regulatory protein
susceptibility
ISO ISS
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Lipoid CAH ClinVar Annotator: match by term: Congenital adrenal hyperplasia OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar MouseDO
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11509019 PMID:12725533 PMID:14764819 PMID:15347444 PMID:15546900 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16968793 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28637490 PMID:29576868 , PMID:8634702 , PMID:9326645
RGD:1600070 , RGD:4145592
NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:1864962 PMID:3038528 PMID:24033266 PMID:25741868 PMID:26467025
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: P450c11b1 deficiency ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
OMIM ClinVar
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17371482 PMID:17692261 PMID:17726333 PMID:18663314 PMID:19204079 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28962970 PMID:29626607
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
protein:decreased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: 21-hydroxylase deficiency ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:1496017 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:9215318 PMID:10496074 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15858147 PMID:19773403 PMID:21134444 PMID:21329531 PMID:21532487 PMID:23166432 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:29386111 PMID:30048636 PMID:30889569 PMID:30995443 PMID:32185686
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V ClinVar Annotator: match by term: 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM ClinVar
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2786493 PMID:2843762 PMID:6976525 PMID:7629254 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715826 PMID:14715827 PMID:15713706 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19636199 PMID:21340157 PMID:21340163 PMID:21846181 PMID:22087567 PMID:23291414 PMID:23466679 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29595516
NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete ClinVar Annotator: match by term: Congenital Adrenal Insufficiency ClinVar Annotator: match by OMIM:613743
OMIM ClinVar
PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 PMID:19116240 PMID:21159840 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:611489
OMIM ClinVar
PMID:7061486 PMID:8212073 PMID:10634411 PMID:11502797 PMID:12780753 PMID:17245537
NCBI chr 6:127,523,948...127,534,178
Ensembl chr 6:127,523,906...127,534,247
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency ClinVar Annotator: match by term: Corticosterone methyl oxidase type II deficiency ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY ClinVar Annotator: match by OMIM:610600 ClinVar Annotator: match by OMIM:203400
OMIM ClinVar
PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 PMID:8439335 PMID:8530633 PMID:8954040 PMID:9177280 PMID:9360501 PMID:9625333 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11238478 PMID:11549691 PMID:12788848 PMID:14250395 PMID:15240589 PMID:16118341 PMID:16733366 PMID:18710464 PMID:20494601 PMID:21237269 PMID:22465514 PMID:22565077 PMID:22801770 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:26936515 PMID:28492532 PMID:30864636
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:23884782
RGD:14700670
NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
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Crh
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21359208
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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Gabra6
gamma-aminobutyric acid type A receptor subunit alpha6
IAGP
DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism
RGD
PMID:12080446
RGD:1626491
NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Cushing's syndrome
ClinVar
PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
protein:decreased activity:blood, mononuclear leukocyte
RGD
PMID:19635986 , PMID:10356629 , PMID:10471508
RGD:7174715 , RGD:7174723 , RGD:7174722
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6088243 PMID:19153526
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29669941
NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956 PMID:29367455 , PMID:12213893
RGD:1581269
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISO
ClinVar Annotator: match by term: Familial hyperaldosteronism
ClinVar
PMID:28492532
NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
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Clcn2
chloride voltage-gated channel 2
ISO
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type II ClinVar Annotator: match by term: FH II CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19191339 PMID:19861545 PMID:23542698 PMID:25741868 PMID:25907736 PMID:29403011 PMID:29403012
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISO
ClinVar Annotator: match by term: FH III ClinVar Annotator: match by term: HYPERALDOSTERONISM, FAMILIAL, TYPE III ClinVar Annotator: match by OMIM:613677
OMIM ClinVar
PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 PMID:22628607 PMID:23829355 PMID:24037882 PMID:24420545 PMID:24574546 PMID:24819081 PMID:25057880 PMID:25741868 PMID:28492532
NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION
ClinVar OMIM
PMID:15048902 PMID:15852375 PMID:17696120 PMID:25907736 PMID:26467025 PMID:28492532
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Mc2r
melanocortin 2 receptor
ISO
ClinVar Annotator: match by term: ACTH resistance ClinVar Annotator: match by term: Adrenal unresponsiveness to acth ClinVar Annotator: match by OMIM:202200
OMIM ClinVar
PMID:7829641 PMID:8094489 PMID:8227361 PMID:8636348 PMID:10443676 PMID:12213892 PMID:16271481 PMID:17128565 PMID:17223989 PMID:18059087 PMID:18407210 PMID:18492762 PMID:18504396 PMID:18840636 PMID:19170705 PMID:19558534 PMID:21932602 PMID:25741868 PMID:26650942 PMID:28492532
NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
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Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: ACTH resistance
ClinVar
PMID:15654338 PMID:24033266
NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
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Nnt
nicotinamide nucleotide transhydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22634753
NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
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Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency 2 ClinVar Annotator: match by OMIM:607398 ClinVar Annotator: match by null
OMIM ClinVar
PMID:15654338 PMID:16868047 PMID:24033266 PMID:28492532
NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
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Urb1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency 2
ClinVar
PMID:28492532
NCBI chr11:30,916,740...30,977,423
Ensembl chr11:30,916,730...30,977,483
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Nnt
nicotinamide nucleotide transhydrogenase
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency ClinVar Annotator: match by OMIM:614736
OMIM ClinVar
PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 PMID:27129361 PMID:28492532 PMID:33223529
NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 5
OMIM ClinVar
PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 PMID:28492532 PMID:31712860
NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
OMIM ClinVar CTD
PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9435454 PMID:9546661 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15751602 PMID:16030166 PMID:16984984 PMID:17371482 PMID:17692261 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:24022297 PMID:24033266 PMID:24536089 PMID:25741868 PMID:26300845 PMID:26467025 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11549691 PMID:16118341 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:28492532
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary
OMIM ClinVar
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8198984 PMID:8203469 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:9865903 PMID:10411893 PMID:10797439 PMID:10811497 PMID:10864200 PMID:11040944 PMID:11101847 PMID:11139324 PMID:11391594 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15173255 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15781620 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16522644 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17224268 PMID:17289876 PMID:17311302 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17727479 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19367569 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21484931 PMID:21512767 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22652532 PMID:22698404 PMID:22710932 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23403321 PMID:23484829 PMID:23538418 PMID:23792586 PMID:23894400 PMID:24033266 PMID:24076587 PMID:24381225 PMID:24487276 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24663046 PMID:24677579 PMID:24728327 PMID:24810334 PMID:24868540 PMID:25157968 PMID:25348012 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26086041 PMID:26206375 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27157322 PMID:27242894 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27619989 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28125078 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28772286 PMID:28861920 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29769598 PMID:29945567 PMID:29979965 PMID:30076369 PMID:30212483 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30374176 PMID:30588330 PMID:30816478 PMID:30883245 PMID:31016814 PMID:31159747 PMID:31775759 PMID:32000721
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human)
RGD
PMID:1594605
RGD:1600824
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11238478
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Rhcg
Rh family, C glycoprotein
treatment
IEP
RGD
PMID:21415155
RGD:9850160
NCBI chr 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: IMAGE Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:614732
OMIM ClinVar CTD
PMID:15769992 PMID:22634751 PMID:24098681 PMID:25057881 PMID:25262539 PMID:25614875 PMID:28492532 PMID:30374176
NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
ClinVar OMIM
PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30503519
NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
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Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated
ClinVar
PMID:17164309
NCBI chr X:54,734,385...54,738,513
Ensembl chr X:54,734,385...54,738,513
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Star
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism ClinVar Annotator: match by term: ADRENAL HYPERPLASIA I CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:201710
OMIM ClinVar CTD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11502818 PMID:11509019 PMID:12725533 PMID:14764819 PMID:15347444 PMID:15546900 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16968793 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28637490 PMID:29576868
NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
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Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: Mirage syndrome
ClinVar OMIM
PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 PMID:28346228 PMID:29266745 PMID:29365320 PMID:29506479 PMID:30046003 PMID:31208161 PMID:31638924 PMID:31666768 PMID:32106287
NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric
ClinVar
PMID:9704930 PMID:10864200 PMID:11481490 PMID:11600572 PMID:11753428 PMID:12826609 PMID:15121773 PMID:15741269 PMID:16033918 PMID:16494995 PMID:18248785 PMID:18762572 PMID:19717094 PMID:19877175 PMID:20407015 PMID:21192060 PMID:23469205 PMID:23570263 PMID:23733769 PMID:24884479 PMID:24936644 PMID:25584008 PMID:25741868 PMID:26452166 PMID:26572807 PMID:26681051 PMID:27223487 PMID:27663983 PMID:27714481 PMID:28472496 PMID:28492532
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Acox1
acyl-CoA oxidase 1
ISO
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar Annotator: match by term: ACOX1-related condition ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar Annotator: match by OMIM:264470
OMIM ClinVar
PMID:2894756 PMID:8040306 PMID:8279468 PMID:11815777 PMID:17458872 PMID:18536048 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26965209 PMID:28492532 PMID:32169171
NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
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Ten1
TEN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar
NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094
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Pex5
peroxisomal biogenesis factor 5
ISO
OMIM
NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities ClinVar Annotator: match by OMIM:615474
OMIM ClinVar
PMID:23913001 PMID:25741868
NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23913001
NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Primary hyperaldosteronism ClinVar Annotator: match by term: Hyperaldosteronism
ClinVar
PMID:25741868 PMID:25907736 PMID:28492532
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Clcn2
chloride voltage-gated channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29403012
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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Crh
corticotropin releasing hormone
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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Cybb
cytochrome b-245 beta chain
IEP
Protein:increased expression:heart ventricle
RGD
PMID:16373592
RGD:1599681
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
DNA:gene fusion:intron:Cyp11b2 (human)
RGD
PMID:1731223
RGD:4891155
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11085685
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11085685
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Drd2
dopamine receptor D2
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Cushing's syndrome
ClinVar
PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Serpina1
serpin family A member 1
IEP
RGD
PMID:15475529
RGD:1643158
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Pde11a
phosphodiesterase 11A
ISS
OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830
MouseDO
NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
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Pde8b
phosphodiesterase 8B
ISS
OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830
MouseDO
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISS
OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830
MouseDO
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISS
OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830
MouseDO
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by OMIM:610489
OMIM ClinVar
PMID:12213893
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Dsc2
desmocollin 2
ISO
ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2
ClinVar
PMID:25741868
NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
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Pde11a
phosphodiesterase 11A
ISO
ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2
OMIM ClinVar
PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:21681106 PMID:24033266 PMID:25741868 PMID:27535533 PMID:28492532
NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
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Pde8b
phosphodiesterase 8B
ISO
ClinVar Annotator: match by OMIM:614190
OMIM ClinVar
PMID:18272904
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
ClinVar Annotator: match by OMIM:615830
ClinVar OMIM
PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Pomc
proopiomelanocortin
ISO
ClinVar Annotator: match by term: Proopiomelanocortin deficiency ClinVar Annotator: match by OMIM:609734
OMIM ClinVar
PMID:9620771 PMID:12165561 PMID:14557433 PMID:16459314 PMID:18091355 PMID:18697863 PMID:18765507 PMID:19221669 PMID:20349035 PMID:23293326 PMID:25741868 PMID:28492532
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Bsnd
barttin CLCNK type accessory subunit beta
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction
ClinVar
PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532
NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
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Aaas
aladin WD repeat nucleoporin
ISO
ClinVar Annotator: match by term: Achalasia alacrima syndrome ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome ClinVar Annotator: match by term: HYPOADRENALISM WITH ACHALASIA CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:231550 ClinVar Annotator: match by synonym: Achalasia-alacrima syndrome
OMIM ClinVar CTD
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12752575 PMID:15173230 PMID:15666842 PMID:16609705 PMID:17853339 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:22538409 PMID:23315990 PMID:25741868 PMID:26595337 PMID:27133709 PMID:27414811 PMID:28492532
NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
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Myg1
MYG1 exonuclease
ISO
ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome
ClinVar
NCBI chr 7:143,929,662...143,936,865
Ensembl chr 7:143,929,662...143,936,864
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
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Fthl17e
ferritin, heavy polypeptide-like 17, member E
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:53,628,946...53,629,936
Ensembl chr X:53,629,255...53,629,803
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Gk
glycerol kinase
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:54,227,291...54,303,897
Ensembl chr X:54,227,397...54,303,864
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Il1rapl1
interleukin 1 receptor accessory protein-like 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:55,439,388...57,004,865
Ensembl chr X:55,439,578...56,765,893
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Mageb1
MAGE family member B1
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:54,892,482...54,931,144
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Mageb2
MAGE family member B2
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:54,804,987...54,806,956
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Mageb3
MAGE family member B3
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:54,843,202...54,844,197
Ensembl chr X:54,843,096...54,844,197
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Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar OMIM
PMID:6891556 PMID:7990953 PMID:7990958 PMID:8636263 PMID:8855822 PMID:9003500 PMID:9195207 PMID:9360549 PMID:9415399 PMID:10361383 PMID:10522996 PMID:10599709 PMID:10675358 PMID:10848616 PMID:11113848 PMID:11549627 PMID:11788621 PMID:12519885 PMID:12629128 PMID:17504899 PMID:18339285 PMID:20573681 PMID:21408189 PMID:21739173 PMID:23384712 PMID:23512386 PMID:25741868 PMID:28492532 PMID:28546232
NCBI chr X:54,734,385...54,738,513
Ensembl chr X:54,734,385...54,738,513
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Tab3
TGF-beta activated kinase 1 (MAP3K7) binding protein 3
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:54,035,958...54,090,282
Ensembl chr X:54,062,935...54,086,339
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Tasl
TLR adaptor interacting with endolysosomal SLC15A4
ISO
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar
NCBI chr X:54,390,733...54,409,466
Ensembl chr X:54,390,733...54,409,466
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