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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Adrenal Insufficiency
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Accession:DOID:9008622 term browser browse the term
Definition:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
Synonyms:exact_synonym: Adrenal Gland Hypofunction;   Adrenal Insufficiencies;   Hypoadrenalism
 narrow_synonym: ADRENAL INSUFFICIENCY, NR5A1-RELATED
 primary_id: MESH:D000309;   RDO:0000918

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show annotations for term's descendants           Sort by:
Adrenal Insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G LOC101704598 cholesterol side-chain cleavage enzyme, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chrNW_004624781:288,594...298,876
Ensembl chrNW_004624781:288,594...300,429 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 NCBI chrNW_004624760:10,603,504...10,626,259
Ensembl chrNW_004624760:10,605,877...10,626,386 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland RGD PMID:21161352 RGD:6482719 NCBI chrNW_004624764:5,144,549...5,152,517
Ensembl chrNW_004624764:5,144,549...5,151,995 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X RGD PMID:7954808 RGD:1624136 NCBI chrNW_004624782:8,521,639...8,580,099
Ensembl chrNW_004624782:8,549,583...8,581,819 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenal insufficiency ClinVar NCBI chrNW_004624826:6,243,809...6,268,973
Ensembl chrNW_004624826:6,243,809...6,267,989 		JBrowse link
Addison's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Primary adrenocortical insufficiency ClinVar PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More... NCBI chrNW_004624946:421,113...439,961
Ensembl chrNW_004624946:421,132...440,075 		JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs8048002T>C		 CTD
RGD		 PMID:18593762 RGD:5491177 NCBI chrNW_004624824:8,099,877...8,156,661
Ensembl chrNW_004624824:8,116,537...8,153,482 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs12917716C		 CTD
RGD		 PMID:18593762 RGD:5491177 NCBI chrNW_004624824:8,174,653...8,400,760
Ensembl chrNW_004624824:8,174,610...8,400,723 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:repeat (human)
DNA:polymorphism (human)		 RGD PMID:12072047 PMID:20455895 RGD:5147608 RGD:5147829 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chrNW_004624742:27,302,222...27,319,549
Ensembl chrNW_004624742:27,302,453...27,319,203 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition OMIM
ClinVar		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chrNW_004624826:6,243,809...6,268,973
Ensembl chrNW_004624826:6,243,809...6,267,989 		JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy		 OMIM
ClinVar
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chrNW_004624946:421,113...439,961
Ensembl chrNW_004624946:421,132...440,075 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chrNW_004624894:2,618,000...2,661,174
Ensembl chrNW_004624894:2,617,711...2,661,174 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:543,542...556,865 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:885,400...902,082
Ensembl chrNW_004624946:884,685...902,365 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:541,317...543,397
Ensembl chrNW_004624946:541,362...543,492 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:398,901...420,767
Ensembl chrNW_004624946:399,227...419,642 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:230,529...241,448
Ensembl chrNW_004624946:230,519...241,850 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:142,987...212,190
Ensembl chrNW_004624963:145,580...212,064 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:311,291...322,546
Ensembl chrNW_004624946:311,594...322,530 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:21,115...47,757 JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:212,470...221,697
Ensembl chrNW_004624963:212,030...221,697 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:858,638...869,859
Ensembl chrNW_004624946:864,657...870,396 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:359,273...366,310
Ensembl chrNW_004624946:359,377...366,308 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:805,573...808,001
Ensembl chrNW_004624946:801,639...808,162 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:252,943...424,718 JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:974,903...981,798
Ensembl chrNW_004624946:972,676...982,049 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:909,398...918,972
Ensembl chrNW_004624946:909,401...919,088 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:223,145...250,841
Ensembl chrNW_004624963:226,564...251,113 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624963:492,210...573,887
Ensembl chrNW_004624963:492,292...573,878 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:902,831...908,815
Ensembl chrNW_004624946:902,461...909,613 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:190,065...210,003
Ensembl chrNW_004624946:190,127...210,497 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:465,832...472,259
Ensembl chrNW_004624946:461,780...472,336 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:613,392...618,459
Ensembl chrNW_004624946:613,890...618,445 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004624878:107,330...117,654
Ensembl chrNW_004624878:107,361...117,459 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:445,559...467,976
Ensembl chrNW_004624963:445,588...467,976 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:212,524...218,187
Ensembl chrNW_004624963:215,462...218,187 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:560,924...570,340
Ensembl chrNW_004624946:559,710...570,372
Ensembl chrNW_004624946:559,710...570,372 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624883:4,039,876...4,062,309
Ensembl chrNW_004624883:4,039,898...4,066,123 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:477,125...496,871
Ensembl chrNW_004624946:477,156...496,750 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chrNW_004624833:914,621...940,661
Ensembl chrNW_004624833:913,337...940,611 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004624735:9,248,065...9,262,975
Ensembl chrNW_004624735:9,251,046...9,263,199 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:924,956...939,483
Ensembl chrNW_004624946:926,521...939,483 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:447,981...460,880
Ensembl chrNW_004624946:450,047...460,718 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:377,454...391,055
Ensembl chrNW_004624946:376,856...391,192 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:51,978...71,781
Ensembl chrNW_004624963:63,187...73,440 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:860,639...863,636 JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:958,850...961,163
Ensembl chrNW_004624946:959,051...960,502 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:389,806...396,653 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:432,489...434,002 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:462,108...465,831
Ensembl chrNW_004624946:462,114...465,841 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:472,364...475,989
Ensembl chrNW_004624946:472,339...475,989 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:871,618...885,331
Ensembl chrNW_004624946:871,901...879,508 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:718,330...748,957 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:760,078...775,073 JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624980:310,630...407,364
Ensembl chrNW_004624980:310,426...406,972 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:187,147...188,805
Ensembl chrNW_004624946:187,056...210,497 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004624946:955,993...958,424
Ensembl chrNW_004624946:955,993...958,849 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:94,482...129,223
Ensembl chrNW_004624963:93,135...129,198 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:165,358...177,243
Ensembl chrNW_004624946:170,620...173,765 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624883:4,084,018...4,140,308
Ensembl chrNW_004624883:4,084,196...4,140,508 		JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101704598 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chrNW_004624781:288,594...298,876
Ensembl chrNW_004624781:288,594...300,429 		JBrowse link
corticosterone methyloxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101700701 cytochrome P450 11B1, mitochondrial ISO ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: Early-onset familial hypoaldosteronism | ClinVar Annotator: match by term: Familial hypoaldosteronism | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY OMIM
ClinVar		 PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 More... NCBI chrNW_004624735:13,701,382...13,708,750 JBrowse link
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101700701 cytochrome P450 11B1, mitochondrial ISO ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder OMIM
ClinVar		 PMID:1594605 PMID:2044581 PMID:8530633 PMID:8954040 PMID:9360501 More... NCBI chrNW_004624735:13,701,382...13,708,750 JBrowse link
glucocorticoid deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1 OMIM
ClinVar		 PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 More... NCBI chrNW_004624770:20,431,571...20,476,405 JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 1 ClinVar PMID:15654338 PMID:24033266 PMID:25741868 NCBI chrNW_004624745:20,620,807...20,642,688 JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chrNW_004624759:11,520,793...11,628,003
Ensembl chrNW_004624759:11,521,778...11,628,716 		JBrowse link
Glucocorticoid Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition OMIM
ClinVar		 PMID:15654338 PMID:16868047 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624745:20,620,807...20,642,688 JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624745:20,647,661...20,716,262
Ensembl chrNW_004624745:20,648,230...20,715,549 		JBrowse link
Glucocorticoid Deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition OMIM
ClinVar		 PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 More... NCBI chrNW_004624759:11,520,793...11,628,003
Ensembl chrNW_004624759:11,521,778...11,628,716 		JBrowse link
Glucocorticoid Deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition OMIM
ClinVar		 PMID:16199547 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 More... NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
Hypoaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101700701 cytochrome P450 11B1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human)		 CTD
RGD		 PMID:1594605 PMID:11238478 RGD:1600824 NCBI chrNW_004624735:13,701,382...13,708,750 JBrowse link
G Rhcg Rh family C glycoprotein treatment ISO RGD PMID:21415155 RGD:9850160 NCBI chrNW_004624768:16,623,667...16,644,149
Ensembl chrNW_004624768:16,623,599...16,644,189 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chrNW_004624767:15,642,991...15,645,648
Ensembl chrNW_004624767:15,642,012...15,645,664 		JBrowse link
MIRAGE Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY OMIM
ClinVar		 PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More... NCBI chrNW_004624809:14,181...64,002
Ensembl chrNW_004624809:42,443...66,279 		JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy		 OMIM
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chrNW_004624801:5,844,824...5,867,439
Ensembl chrNW_004624801:5,846,729...5,867,427 		JBrowse link
G Fbf1 Fas binding factor 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,791,900...5,818,623
Ensembl chrNW_004624801:5,792,938...5,818,713 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,646,112...5,649,822
Ensembl chrNW_004624801:5,646,239...5,650,214 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,613,752...5,646,046
Ensembl chrNW_004624801:5,613,861...5,650,214 		JBrowse link
G LOC101698172 histone H3.3 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,668,661...5,672,164 JBrowse link
G Mrpl38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,784,992...5,789,871
Ensembl chrNW_004624801:5,784,992...5,789,839 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chrNW_004624801:5,867,474...5,900,298
Ensembl chrNW_004624801:5,880,221...5,900,121 		JBrowse link
G Trim47 tripartite motif containing 47 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,761,584...5,765,866
Ensembl chrNW_004624801:5,761,584...5,765,873 		JBrowse link
G Trim65 tripartite motif containing 65 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,779,009...5,783,542 JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294 		JBrowse link
G Unk unk zinc finger ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,676,546...5,720,483
Ensembl chrNW_004624801:5,676,521...5,719,128 		JBrowse link
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004624801:5,737,034...5,745,935
Ensembl chrNW_004624801:5,736,797...5,746,018 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chrNW_004624946:421,113...439,961
Ensembl chrNW_004624946:421,132...440,075 		JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,338,478...3,353,373
Ensembl chrNW_004624860:3,338,690...3,352,396 		JBrowse link
G Acsm4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624782:6,862,210...6,885,556
Ensembl chrNW_004624782:6,862,648...6,885,450 		JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,938,001...4,957,640
Ensembl chrNW_004624860:4,938,001...4,957,236 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,675,926...3,684,598
Ensembl chrNW_004624860:3,676,252...3,684,406 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,686,866...3,693,293
Ensembl chrNW_004624860:3,687,500...3,692,872 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,658,272...3,667,717
Ensembl chrNW_004624860:3,659,341...3,671,142 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:5,196,621...5,204,686
Ensembl chrNW_004624860:5,197,619...5,199,043 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,199,493...3,203,683 JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,516,244...3,519,107
Ensembl chrNW_004624860:3,515,411...3,518,828 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,108,782...4,113,693
Ensembl chrNW_004624860:4,108,640...4,113,839 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,710,121...3,737,617
Ensembl chrNW_004624860:3,709,139...3,738,221 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,422,033...3,427,610
Ensembl chrNW_004624860:3,421,910...3,428,823 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059 		JBrowse link
G Dppa3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,974,941...4,978,295 JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,605,114...3,611,108
Ensembl chrNW_004624860:3,605,126...3,611,108 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,553,936...3,561,343
Ensembl chrNW_004624860:3,553,947...3,564,294 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:5,176,301...5,195,715
Ensembl chrNW_004624860:5,176,257...5,195,682 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,968,624...4,970,362 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,509,185...3,515,025
Ensembl chrNW_004624860:3,509,397...3,515,352 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,492,761...3,497,896
Ensembl chrNW_004624860:3,493,075...3,498,374 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,262,205...3,273,859
Ensembl chrNW_004624860:3,262,205...3,273,867 		JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,353,443...3,362,541
Ensembl chrNW_004624860:3,353,489...3,362,430 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,454,587...3,461,649
Ensembl chrNW_004624860:3,456,347...3,461,592 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,327,847...3,337,851
Ensembl chrNW_004624860:3,327,936...3,328,928 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,611,300...3,642,682
Ensembl chrNW_004624860:3,611,300...3,642,686 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,547,199...3,553,763
Ensembl chrNW_004624860:3,547,179...3,553,849 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,152,041...3,158,690
Ensembl chrNW_004624860:3,152,517...3,162,848 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,877,811...4,891,149
Ensembl chrNW_004624860:4,881,981...4,888,527 		JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,437,286...3,441,332
Ensembl chrNW_004624860:3,437,136...3,441,455 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,228,155...3,229,037
Ensembl chrNW_004624860:3,228,155...3,229,036 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:5,026,203...5,037,219 JBrowse link
G Ncapd2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,229,091...3,256,631
Ensembl chrNW_004624860:3,230,577...3,256,407 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:5,224,170...5,237,235
Ensembl chrNW_004624860:5,223,610...5,237,451 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,273,944...3,284,150 JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,498,493...3,508,999
Ensembl chrNW_004624860:3,498,547...3,508,682 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar
OMIM		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chrNW_004624860:3,771,949...3,790,982
Ensembl chrNW_004624860:3,771,963...3,790,985 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,599,435...3,605,016
Ensembl chrNW_004624860:3,599,687...3,604,872 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,396,105...3,417,986
Ensembl chrNW_004624860:3,396,237...3,400,909 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,450,504...3,454,494
Ensembl chrNW_004624860:3,450,661...3,454,018 		JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090 		JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:3,705,210...3,709,179
Ensembl chrNW_004624860:3,705,210...3,709,055 		JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:4,811,449...4,861,470
Ensembl chrNW_004624860:4,811,449...4,844,431 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,123,676...3,152,217
Ensembl chrNW_004624860:3,126,379...3,145,043 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004624860:5,069,246...5,153,435 JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,203,683...3,211,901
Ensembl chrNW_004624860:3,205,093...3,211,584 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,533,226...3,536,786
Ensembl chrNW_004624860:3,533,320...3,539,755 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,519,106...3,532,690
Ensembl chrNW_004624860:3,519,113...3,532,687 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,212,549...3,219,354
Ensembl chrNW_004624860:3,213,474...3,219,359 		JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004624860:3,365,103...3,389,907
Ensembl chrNW_004624860:3,365,339...3,389,346 		JBrowse link
Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency OMIM
ClinVar		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia OMIM
ClinVar		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chrNW_004624904:1,419,809...1,432,117
Ensembl chrNW_004624904:1,419,835...1,432,741 		JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chrNW_004624904:1,412,664...1,419,398
Ensembl chrNW_004624904:1,412,049...1,419,365 		JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004624762:25,268,398...25,357,165
Ensembl chrNW_004624762:25,270,270...25,357,167 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004624787:266,027...1,489,032
Ensembl chrNW_004624787:268,829...1,291,144 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked OMIM
ClinVar		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chrNW_004624762:25,759,976...25,769,543
Ensembl chrNW_004624762:25,764,452...25,769,487 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004624762:25,107,234...25,177,268 JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004624762:25,427,519...25,448,180
Ensembl chrNW_004624762:25,430,926...25,448,114 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      endocrine system disease 5718
        adrenal gland disease 241
          Adrenal Insufficiency 164
            Addison's disease + 6
            Adrenomyodystrophy 0
            Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 0
            Glucocorticoid Deficiency 2 2
            Glucocorticoid Deficiency 3 0
            Glucocorticoid Deficiency 4 1
            Glucocorticoid Deficiency 5 2
            Hypoaldosteronism + 2
            IMAGe syndrome 1
            Proopiomelanocortin Deficiency 1
            Waterhouse-Friderichsen syndrome + 0
            X-linked adrenal hypoplasia congenita 6
            adrenal cortical hypofunction + 12
            adrenocorticotropic hormone deficiency 2
            adrenoleukodystrophy + 133
            congenital adrenal insufficiency 1
            glucocorticoid deficiency 1 3
            triple-A syndrome 2
paths to the root