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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:mineral metabolism disease
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Accession:DOID:0050032 term browser browse the term
Definition:An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)
Synonyms:primary_id: RDO:9003951
 xref: EFO:0009556


show annotations for term's descendants           Sort by:
aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660 		JBrowse link
G Ankub1 ankyrin repeat and ubiquitin domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:144,005,876...144,044,635
Ensembl chr 2:144,002,872...144,044,295 		JBrowse link
G Commd2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,998,672...144,002,918
Ensembl chr 2:143,998,672...144,002,918 		JBrowse link
G Cp ceruloplasmin ISO
ISS 		ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia
OMIM:604290
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More... NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Cpa3 carboxypeptidase A3 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:104,641,619...104,673,253
Ensembl chr 2:104,641,621...104,673,237 		JBrowse link
G Cpb1 carboxypeptidase B1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:104,684,275...104,744,824
Ensembl chr 2:104,684,275...104,714,662 		JBrowse link
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:104,540,927...104,583,038
Ensembl chr 2:104,540,533...104,582,818 		JBrowse link
G Hltf helicase-like transcription factor ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:104,478,725...104,538,531
Ensembl chr 2:104,478,772...104,538,818 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 More... NCBI chr 2:104,413,618...104,455,091
Ensembl chr 2:104,413,417...104,455,091 		JBrowse link
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:144,076,526...144,211,520
Ensembl chr 2:144,077,916...144,211,798 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460 		JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,606,980...143,616,176
Ensembl chr 2:143,603,271...143,616,176 		JBrowse link
G Tm4sf4 transmembrane 4 L six family member 4 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,720,220...143,771,283
Ensembl chr 2:143,720,267...143,771,227 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:143,801,181...143,991,950 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
DNA:mutations:exons: 		CTD
ClinVar
MouseDO
RGD		 PMID:9889202 PMID:12210792 PMID:19060901 PMID:20301648 PMID:23001123 More... RGD:11069491 NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 		CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:40,091,206...40,100,904
Ensembl chr19:40,091,210...40,100,899 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 		CTD
ClinVar		 PMID:10065021 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 More... NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:212,323,939...212,329,571 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:166,162,657...166,179,389 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 		CTD
ClinVar
MouseDO		 PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:156,143,815...156,171,292 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,620,499...117,622,025
Ensembl chr 8:117,616,629...117,626,577 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:117,860,345...117,866,803 		JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,652,390...117,661,502
Ensembl chr 8:117,652,393...117,661,711 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:118,175,267...118,234,284 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,663,447...117,754,412
Ensembl chr 8:117,670,334...117,754,412 		JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:117,958,576...117,963,201 		JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,505,439...117,519,785
Ensembl chr 8:117,505,408...117,519,797 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:118,003,244...118,046,209 		JBrowse link
G Cdhr4 cadherin-related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,561,206...117,594,456
Ensembl chr 8:117,561,240...117,569,412 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:118,409,136...118,436,847 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,002,336...118,019,337 JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:118,483,364...118,517,439 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:118,144,197...118,147,822 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr17:79,684,988...79,718,399
Ensembl chr17:79,678,698...79,718,734 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,616,029...117,622,866 JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,129,311...117,133,162
Ensembl chr 8:117,129,277...117,133,146 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:117,132,649...117,139,289 		JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,139,612...117,144,834
Ensembl chr 8:117,139,550...117,144,836 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:117,971,077...118,003,482 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:118,135,262...118,139,873 		JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,552,875...117,554,565
Ensembl chr 8:117,552,875...117,554,565 		JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,594,177...117,613,266
Ensembl chr 8:117,594,317...117,613,274 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,362,154...118,388,668
Ensembl chr 8:118,362,795...118,388,667 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:118,020,376...118,025,102 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:118,056,935...118,069,090 		JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,144,498...117,149,300
Ensembl chr 8:117,144,464...117,149,185 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,142,627...118,142,717 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,452,868...117,471,780
Ensembl chr 8:117,452,936...117,471,768 		JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,646,485...117,652,016
Ensembl chr 8:117,647,438...117,652,015 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:117,133,494...117,136,207 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,390,121...118,401,121
Ensembl chr 8:118,390,159...118,401,118 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:118,139,892...118,141,723 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:117,854,933...117,860,184 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:118,153,158...118,171,002 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,522,371...118,565,478
Ensembl chr 8:118,522,365...118,565,468 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,271,608...118,337,332
Ensembl chr 8:118,274,167...118,337,330 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:118,086,228...118,094,274 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,095,435...118,135,001
Ensembl chr 8:118,095,429...118,134,999 		JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,298,866...117,328,107
Ensembl chr 8:117,299,084...117,327,706 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,327,607...117,431,397
Ensembl chr 8:117,331,325...117,431,397 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,618,776...117,646,400
Ensembl chr 8:117,618,425...117,646,274 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,150,307...117,161,570
Ensembl chr 8:117,150,589...117,157,658 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:117,236,269...117,265,206 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,569,975...118,584,880
Ensembl chr 8:118,569,975...118,584,880 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:118,243,519...118,265,027 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,438,110...118,448,271
Ensembl chr 8:118,438,180...118,448,270 		JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,202,534...117,220,310
Ensembl chr 8:117,202,536...117,218,630 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:117,867,153...117,871,331 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,449,870...118,450,764
Ensembl chr 8:118,449,870...118,450,764 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:117,520,441...117,540,253 		JBrowse link
G Trex1 three prime repair exonuclease 1 susceptibility ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant ClinVar
OMIM		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
G Uba7 ubiquitin-like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,543,902...117,552,709
Ensembl chr 8:117,543,957...117,556,142 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,516,111...118,517,660
Ensembl chr 8:118,483,364...118,517,439 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:118,468,200...118,479,964 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,069,227...118,080,283
Ensembl chr 8:118,069,240...118,080,300 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:117,914,614...117,957,949 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:118,146,608...118,153,092 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:10065021 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,588,473...211,604,401
Ensembl chr 1:211,588,474...211,604,401 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,709,238...210,715,258
Ensembl chr 1:210,709,294...210,715,633 		JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:210,836,755...210,848,634 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family, member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,574,545...210,605,188
Ensembl chr 1:210,573,661...210,610,538 		JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family, member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,679,749...210,694,187
Ensembl chr 1:210,675,302...210,694,155 		JBrowse link
G Aldh3b3 aldehyde dehydrogenase 3 family, member B3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,617,090...210,629,886
Ensembl chr 1:210,622,639...210,629,879 		JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,995,012...211,007,430
Ensembl chr 1:210,995,148...211,007,369 		JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,180,755...209,329,413
Ensembl chr 1:209,180,755...209,329,550 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,305,612...212,309,643
Ensembl chr 1:212,305,604...212,309,629 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442 		JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,101,523...212,103,568
Ensembl chr 1:212,101,523...212,103,552 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,163,892...212,166,146
Ensembl chr 1:212,163,892...212,166,141 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:211,775,095...211,784,410 		JBrowse link
G C1h11orf24 similar to human chromosome 11 open reading frame 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,374,426...210,383,191
Ensembl chr 1:210,374,543...210,383,566 		JBrowse link
G C1h11orf86 similar to human chromosome 11 open reading frame 86 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,213,429...211,225,624
Ensembl chr 1:211,213,445...211,229,116 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:210,804,096...210,809,940 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:212,705,222...212,729,445 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,888,520...210,899,311
Ensembl chr 1:210,888,520...210,899,131 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,072,371...212,081,179
Ensembl chr 1:212,072,412...212,081,178 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,192,979...212,193,994
Ensembl chr 1:212,189,468...212,196,911 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,564,419...211,567,115
Ensembl chr 1:211,475,789...211,568,008 		JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,543,192...211,564,354
Ensembl chr 1:211,542,701...211,564,260 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,803,052...211,805,616
Ensembl chr 1:211,801,934...211,805,776 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,631,317...212,640,231
Ensembl chr 1:212,629,881...212,640,234 		JBrowse link
G Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,819,155...210,822,604
Ensembl chr 1:210,820,507...210,823,010 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:212,226,121...212,231,353 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,506,069...210,554,753
Ensembl chr 1:210,506,056...210,554,752 		JBrowse link
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,828,791...211,834,474
Ensembl chr 1:211,828,794...211,834,437 		JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,872,437...210,877,876
Ensembl chr 1:210,871,841...210,877,876 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:209,993,875...210,056,326 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,084,676...212,086,384
Ensembl chr 1:212,084,676...212,086,384 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,582,169...211,587,917
Ensembl chr 1:211,582,098...211,587,916 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,201,904...212,208,028
Ensembl chr 1:212,201,904...212,205,292 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:211,634,068...211,658,310 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,161,107...212,163,833
Ensembl chr 1:212,161,125...212,163,762 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:212,423,447...212,443,598 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,103,715...212,109,015
Ensembl chr 1:212,103,892...212,109,017 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:209,169,318...209,174,976 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,445,101...212,447,164
Ensembl chr 1:212,445,102...212,446,738 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,485,813...209,490,267
Ensembl chr 1:209,485,813...209,490,267 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,453,229...209,457,085
Ensembl chr 1:209,453,229...209,457,085 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:212,197,416...212,201,731 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:212,183,833...212,192,391 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,572,534...212,593,181
Ensembl chr 1:212,572,537...212,592,695 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:210,079,702...210,084,229 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,022,989...212,032,802
Ensembl chr 1:212,023,000...212,032,801 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,865,338...210,867,833
Ensembl chr 1:210,865,338...210,867,833 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:211,009,978...211,031,015 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:209,934,969...209,958,766 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,419,555...212,422,173
Ensembl chr 1:212,419,555...212,422,566 		JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,041,859...211,125,749
Ensembl chr 1:211,041,885...211,084,479 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:211,843,929...211,854,160 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,429,672...210,479,042
Ensembl chr 1:210,430,127...210,479,035 		JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,317,980...211,321,272
Ensembl chr 1:211,317,980...211,321,272 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,502,900...209,510,237
Ensembl chr 1:209,498,312...209,517,347 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,404,685...212,417,986
Ensembl chr 1:212,403,680...212,417,983 		JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,908,487...209,917,183
Ensembl chr 1:209,905,099...209,917,183 		JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,893,384...209,902,852
Ensembl chr 1:209,892,450...209,903,614 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:211,693,804...211,697,177 		JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,958,693...209,987,393
Ensembl chr 1:209,958,082...209,971,750 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,219,793...212,225,214
Ensembl chr 1:212,219,795...212,225,068 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:210,569,824...210,572,971 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:210,729,858...210,734,949 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:211,711,338...211,716,102 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,723,209...210,724,717
Ensembl chr 1:210,723,209...210,725,638 		JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,284,601...212,296,106
Ensembl chr 1:212,284,605...212,296,106 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:212,379,851...212,403,166 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:211,661,610...211,672,239 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,823,568...210,836,989
Ensembl chr 1:210,823,565...210,836,990 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,656,500...212,680,667
Ensembl chr 1:212,656,501...212,680,542 		JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,956,110...210,957,863
Ensembl chr 1:210,956,099...210,957,860 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,914,576...210,918,193
Ensembl chr 1:210,914,567...210,918,193 		JBrowse link
G Ppp6r3 protein phosphatase 6, regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,122,394...210,236,839
Ensembl chr 1:210,122,394...210,236,809 		JBrowse link
G Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,878,593...210,880,752
Ensembl chr 1:210,878,573...210,881,753 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,835,133...211,843,408
Ensembl chr 1:211,835,073...211,843,337
Ensembl chr  X:211,835,073...211,843,337 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,917,970...210,983,038
Ensembl chr 1:210,917,970...210,925,161 		JBrowse link
G Rbm14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,476,298...211,535,077
Ensembl chr 1:211,523,972...211,535,065 		JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,507,845...211,516,907
Ensembl chr 1:211,506,343...211,516,891 		JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,477,337...211,487,428 JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,328,769...211,345,944
Ensembl chr 1:211,328,696...211,331,869 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,138,126...211,153,953
Ensembl chr 1:211,138,126...211,152,061 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:211,784,943...211,791,368 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:212,323,939...212,329,571 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,880,824...210,887,556
Ensembl chr 1:210,880,825...210,887,562 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,119,824...212,128,517
Ensembl chr 1:212,104,557...212,128,486 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:212,475,068...212,501,129 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:212,367,867...212,377,497 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,595,536...212,603,786
Ensembl chr 1:212,595,982...212,603,786 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:211,757,000...211,764,560 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,231,716...212,248,127
Ensembl chr 1:212,228,992...212,248,071 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:211,432,373...211,473,306 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,986,604...210,994,975
Ensembl chr 1:210,986,606...210,994,284 		JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,158,745...211,189,780
Ensembl chr 1:211,159,800...211,189,037 		JBrowse link
G Tbc1d10c TBC1 domain family, member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,906,621...210,913,649
Ensembl chr 1:210,906,616...210,994,356 		JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,714,992...210,722,089
Ensembl chr 1:210,718,894...210,722,089 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:210,556,270...210,568,033 		JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,059,414...210,077,704
Ensembl chr 1:210,059,393...210,077,703 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,607,772...212,612,683
Ensembl chr 1:212,607,138...212,610,802 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,848,761...210,857,735
Ensembl chr 1:210,848,578...210,858,861 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,816,773...211,821,558
Ensembl chr 1:211,816,773...211,822,317 		JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,331,973...211,419,015
Ensembl chr 1:211,331,827...211,419,015 		JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,845,827...209,875,561
Ensembl chr 1:209,845,835...209,875,457 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,129,921...212,144,784
Ensembl chr 1:212,129,923...212,144,209 		JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,823,921...211,828,437
Ensembl chr 1:211,824,273...211,828,802 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,447,010...212,448,793
Ensembl chr 1:212,447,010...212,448,793 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,047,191...40,053,216
Ensembl chr19:40,047,191...40,053,216 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,231,061...40,245,329 JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,987,328...39,991,418
Ensembl chr19:39,987,324...39,991,432 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,149,505...40,152,225
Ensembl chr19:40,149,505...40,152,225 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,196,255...40,205,830
Ensembl chr19:40,173,716...40,205,823 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,995,408...40,002,312
Ensembl chr19:39,995,408...40,002,312 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,225,503...40,228,052
Ensembl chr19:40,225,984...40,228,055 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,034,675...40,043,064
Ensembl chr19:40,034,967...40,043,061 		JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,056,732...40,075,027
Ensembl chr19:40,056,732...40,081,270 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,399,373...40,400,897
Ensembl chr19:40,398,160...40,402,708 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,081,126...40,082,910
Ensembl chr19:40,073,541...40,085,218 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,356,967...40,359,834
Ensembl chr19:40,354,819...40,359,834 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,121,271...40,149,073
Ensembl chr19:40,112,831...40,149,073 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,373,436...40,391,351
Ensembl chr19:40,373,449...40,391,347 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,259,873...40,356,966
Ensembl chr19:40,260,084...40,353,092 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,085,788...40,091,083
Ensembl chr19:40,084,430...40,091,006 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,219,235...40,225,543
Ensembl chr19:40,219,636...40,225,543 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chr19:40,091,206...40,100,904
Ensembl chr19:40,091,210...40,100,899 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,102,364...40,112,791
Ensembl chr19:40,102,364...40,109,295 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,173,713...40,195,959
Ensembl chr19:40,173,716...40,205,823 		JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,004,271...40,024,565
Ensembl chr19:40,004,275...40,024,187 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,029,952...40,033,368
Ensembl chr19:40,029,952...40,033,368 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,361,583...40,374,971
Ensembl chr19:40,361,583...40,374,622 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,981,890...39,987,443
Ensembl chr19:39,981,262...39,987,442 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,980,247...39,981,619
Ensembl chr19:39,980,247...39,982,737 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,642,676...166,656,924
Ensembl chr 3:166,642,677...166,652,829 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:166,807,858...166,968,931 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:166,412,764...166,431,880 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,455,067...166,484,652
Ensembl chr 3:166,455,066...166,487,431 		JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,294,008...166,362,460
Ensembl chr 3:166,297,394...166,362,427 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,646,373...166,648,845
Ensembl chr 3:166,646,384...166,649,086 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,226,187...166,289,862
Ensembl chr 3:166,226,198...166,289,376 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,361,955...166,409,272
Ensembl chr 3:166,362,049...166,409,922 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:166,162,657...166,179,389 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:12210792 PMID:15146470 PMID:15489923 More... NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971 		JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr10:30,869,168...30,887,275
Ensembl chr10:30,872,054...30,887,269 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 PMID:37171742 NCBI chr 4:159,237,562...159,239,223 JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr10:95,136,799...95,197,176
Ensembl chr10:95,142,458...95,197,053 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025 		JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:10,211,262...10,216,583 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
G Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:61,658,655...61,672,037
Ensembl chr18:61,658,250...61,672,037 		JBrowse link
G Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850 		JBrowse link
G Runx2 RUNX family transcription factor 2 treatment IEP RGD PMID:29420074 RGD:598099548 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility IAGP DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 1:191,932,969...191,935,490 JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More... NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029 NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Notch1 notch receptor 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:15472075 PMID:15712195 PMID:16025100 PMID:16614245 More... RGD:1580758 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:15901664 PMID:19762328 PMID:25625280 PMID:25741868 PMID:26118961 More... NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:31,475,963...31,534,009 		JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS 		DNA:missense mutations:cds:p.G342V, p.Y371F (human)
ClinVar Annotator: match by term: Idiopathic Infantile Arterial Calcification | ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
OMIM:208000 | OMIM:614473
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:mutations:multiple (human)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human) 		ClinVar
MouseDO
CTD
RGD		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked IEP RGD PMID:15721149 RGD:1599092 NCBI chr  X:28,648,803...28,660,099
Ensembl chr  X:28,648,803...28,660,099 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Casr calcium-sensing receptor ISO DNA:missense mutation:cds:p.E128A (human)
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human) 		ClinVar
RGD		 PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 More... RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor susceptibility ISS
ISO 		OMIM:601198
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL 		MouseDO
OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 | ClinVar Annotator: match by term: GNA11-related condition
OMIM:615361 		OMIM
ClinVar
MouseDO		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,814,327...8,830,558 		JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome 		CTD
ClinVar		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO
ISS 		DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
OMIM:193100
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:526C>T,p.R176W (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISS
ISO 		OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 		MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase ISS OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:177,057,659...177,106,416 		JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:136,880,360...136,894,255
Ensembl chr 3:136,880,290...136,894,249 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha-2-HS-glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis: 		CTD
RGD		 PMID:21335463 PMID:20197689 PMID:18422975 RGD:6483566, RGD:9068449 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:55,573,653...55,649,120 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl9 C-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:68,863,994...68,868,928
Ensembl chr10:68,863,995...68,868,877 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:186,539,942...186,548,858 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr19:73,602,277...73,650,271
Ensembl chr19:73,602,126...73,650,269 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,058,492...11,097,182 		JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:207,044,157...207,077,891
Ensembl chr 1:207,044,159...207,077,893 		JBrowse link
G Ly86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:27,621,313...27,705,336
Ensembl chr17:27,621,313...27,692,743 		JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr11:75,965,717...76,006,733
Ensembl chr11:75,965,632...76,002,380 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:192,032,124...192,033,419
Ensembl chr 1:192,032,124...192,033,419 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr 1:214,951,493...214,960,317
Ensembl chr 1:214,951,867...214,960,311 		JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr11:99,686,934...99,690,349
Ensembl chr11:99,686,934...99,690,349 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Spn sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:191,177,449...191,190,115
Ensembl chr 1:191,178,096...191,187,852 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO 		CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis: 		CTD
RGD		 PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 RGD:6903869, RGD:9068449 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr13:69,991,517...70,136,249
Ensembl chr13:69,996,692...70,136,164 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome 		CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:54,189,157...54,210,685
Ensembl chr10:54,189,157...54,207,272 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25482530 PMID:25741868 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543 		JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human) 		RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr17:21,769,006...22,246,227
Ensembl chr17:21,768,662...22,244,586 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:22,342,910...22,401,522
Ensembl chr14:22,342,927...22,438,590 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISS OMIM:106400 MouseDO NCBI chr 9:22,897,099...22,911,640
Ensembl chr 9:22,902,471...22,914,620 		JBrowse link
familial hypocalciuric hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343 		JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:79,557,267...79,593,128
Ensembl chr11:79,557,274...79,593,285 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr11:78,125,813...78,136,818
Ensembl chr11:78,125,800...78,136,822 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,320,225...78,329,837
Ensembl chr11:78,317,650...78,329,837 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:77,465,585...77,509,993
Ensembl chr11:77,406,020...77,509,993 		JBrowse link
G Fam162a family with sequence similarity 162, member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,186,260...78,215,186
Ensembl chr11:78,185,852...78,216,560 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:79,175,470...79,268,975
Ensembl chr11:79,175,482...79,268,126 		JBrowse link
G Heg1 heart development protein with EGF-like domains 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,512,096...80,600,150
Ensembl chr11:80,512,096...80,600,092 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:137,655,680...137,687,712 		JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,445,376...78,500,034
Ensembl chr11:78,445,376...78,500,034 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,333,588...80,449,373
Ensembl chr11:80,333,590...80,449,373 		JBrowse link
G Kalrn kalirin, RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:79,703,345...80,309,210
Ensembl chr11:79,703,366...80,133,329 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,221,165...78,279,778
Ensembl chr11:78,222,884...78,267,067 		JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,166,038...78,186,323
Ensembl chr11:78,166,038...78,186,323 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,462,350...80,489,773
Ensembl chr11:80,465,737...80,485,474 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:131,967,355...132,018,298 		JBrowse link
G Osbpl11 oxysterol binding protein-like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:81,038,759...81,121,887
Ensembl chr11:81,038,985...81,101,299 		JBrowse link
G Parp14 poly (ADP-ribose) polymerase family, member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,408,134...78,440,201
Ensembl chr11:78,408,058...78,440,195 		JBrowse link
G Parp9 poly (ADP-ribose) polymerase family, member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,286,282...78,320,409
Ensembl chr11:78,286,287...78,320,608 		JBrowse link
G Pdia5 protein disulfide isomerase family A, member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,777,436...78,892,370
Ensembl chr11:78,777,419...78,864,329 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:79,603,053...79,632,344
Ensembl chr11:79,603,055...79,632,344 		JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,907,552...78,967,575
Ensembl chr11:78,907,470...78,970,447 		JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,607,805...78,730,724
Ensembl chr11:78,607,805...78,730,589 		JBrowse link
G Slc12a8 solute carrier family 12, member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,622,000...80,771,674
Ensembl chr11:80,622,000...80,771,659 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:77,519,565...77,548,609
Ensembl chr11:77,519,529...77,548,606 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,500,918...78,574,205
Ensembl chr11:78,500,960...78,574,202 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,965,965...81,023,234
Ensembl chr11:80,965,967...81,028,448 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:78,216,266...78,218,125
Ensembl chr11:78,190,355...78,218,501 		JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr11:80,780,865...80,890,877
Ensembl chr11:80,786,087...80,890,877 		JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor susceptibility ISO
ISS 		ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
OMIM:145980
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 More... NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,814,327...8,830,558 		JBrowse link
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2s1 adaptor related protein complex 2 subunit sigma 1 ISO ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:19797195 PMID:20133464 More... NCBI chr 1:86,545,601...86,557,007
Ensembl chr 1:86,545,350...86,557,009 		JBrowse link
Familial Hypophosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 TAS RGD PMID:12419819 RGD:1303356 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets 		CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 1:22,382,717...22,454,324
Ensembl chr 1:22,382,964...22,454,314 		JBrowse link
G Zfp292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chr 5:54,184,174...54,264,454
Ensembl chr 5:54,184,174...54,304,147 		JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: ABCC6-related condition | ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar		 PMID:1052196 PMID:1975517 PMID:7662452 PMID:7848420 PMID:8254035 More... NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS 		ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia | ClinVar Annotator: match by term: MOTH-EATEN SKELETAL DYSPLASIA
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709 		JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency 		CTD
OMIM
ClinVar		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 4:67,121,288...67,154,543
Ensembl chr 4:67,120,024...67,154,540 		JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More... RGD:1599358 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human) 		ClinVar
CTD
RGD		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 RGD:1599478 NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867 		JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis 		CTD
ClinVar		 PMID:16457665 PMID:21411349 PMID:25741868 NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460 		JBrowse link
G Tfr2 transferrin receptor 2 ISO hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: Bronze diabetes | ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... RGD:1599386 NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human) 		CTD
RGD		 PMID:16793930 PMID:11389006 PMID:16793930 RGD:12904656, RGD:12904050 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO OMIM NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hfe homeostatic iron regulator ISS
ISO 		OMIM:235200
ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1 		MouseDO
ClinVar
OMIM		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of ClinVar PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 More... NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413 		JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile hemochromatosis 		CTD
ClinVar		 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 More... NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867 		JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:186,818,496...186,823,921
Ensembl chr 2:186,817,216...186,824,467 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO
ISS 		ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A
OMIM:602390 		OMIM
ClinVar
MouseDO		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:186,800,419...186,818,048
Ensembl chr 2:186,800,351...186,805,197 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:186,781,163...186,785,731 		JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO
ISS 		ClinVar Annotator: match by term: Hemochromatosis type 2B
OMIM:613313
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:12469120 PMID:12915468 PMID:14670915 PMID:15082576 PMID:15099344 More... NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfr2 transferrin receptor 2 ISO
ISS
IAGP 		ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition
OMIM:604250
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:Ala679Gly (rat) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... RGD:150520058 NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413 		JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc40a1 solute carrier family 40 member 1 ISO
ISS 		ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4
OMIM:606069
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More... NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460 		JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 OMIM
ClinVar		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 8:33,767,606...33,828,451
Ensembl chr 8:33,767,607...33,828,623 		JBrowse link
hemosiderosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin susceptibility ISO DNA:splice-site mutation RGD PMID:7539672 PMID:7539672 RGD:1599626, RGD:1599626 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition 		OMIM
CTD
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 8:98,150,925...98,195,646
Ensembl chr 8:98,150,900...98,195,645 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS 		OMIM:241530
DNA:deletions, snps:multiple (human) 		MouseDO
RGD		 PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529 		JBrowse link
G Calcr calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:32,615,958...32,691,075 		JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypercalcemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R990G, p.E1011Q (human) 		ClinVar
CTD
RGD		 PMID:8675635 PMID:8878438 PMID:9011580 PMID:15591042 PMID:17284438 More... RGD:734698, RGD:7205445 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Pth parathyroid hormone IDA
ISO 		associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Pth1r parathyroid hormone 1 receptor IDA protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr15:60,083,008...60,114,479
Ensembl chr15:60,083,008...60,114,479 		JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor no_association
susceptibility 		ISO
IEP 		associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
DNA:missense mutation: :p.E1011Q (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) 		RGD PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240 RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING ClinVar PMID:14628289 NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 PMID:3017235 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164314 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9560283 PMID:21784483 RGD:7242936 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypercalciuria ClinVar NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
G Vdr vitamin D receptor IEP protein:increased expression:kidney, small intestine RGD PMID:19929616 RGD:4889914 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
Hypercalciuria, Absorptive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 susceptibility ISO ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More... NCBI chr13:80,280,595...80,366,939
Ensembl chr13:80,284,295...80,366,926 		JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria ClinVar PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More... NCBI chr13:80,159,282...80,260,510
Ensembl chr13:80,159,321...80,260,510 		JBrowse link
Hypercalciuria, Childhood Idiopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
CTD Direct Evidence: marker/mechanism
DNA:mutations:5'utr: 		ClinVar
CTD
OMIM
RGD		 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 More... RGD:1598966, RGD:5509864 NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome 		CTD
ClinVar		 PMID:25741868 PMID:27618451 PMID:30217754 PMID:30345601 NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,883,406...83,903,407 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome 		CTD
ClinVar		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 More... NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME 		CTD
ClinVar		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 More... NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:28,965,634...28,967,876
Ensembl chr 8:28,965,617...28,968,508 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:82,632,445...82,656,323 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25741868 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition 		OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:62,548,303...62,551,870 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:61,685,511...61,692,821 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:62,544,714...62,548,709 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:63,000,138...63,010,123 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:62,470,367...62,478,198 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:63,041,184...63,059,215 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:61,619,326...61,645,795 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:61,676,950...61,684,903 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:61,596,860...61,598,657 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:62,706,122...62,715,137 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:62,778,112...62,778,954 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:62,634,721...62,635,970 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:62,876,908...62,877,867 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:62,757,159...62,758,097 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:61,939,900...61,966,875 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 More... NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:62,630,133...62,638,864 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:62,536,009...62,537,911 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:62,693,122...62,699,664 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:61,861,071...61,878,519 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:61,995,800...61,999,889 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:62,583,731...62,613,687 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:62,715,203...62,744,174 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 OMIM
ClinVar		 PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 More... NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:166,003,523...166,030,088 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar Annotator: match by term: Hyperphosphatasia with impaired intellectual development syndrome 4 | ClinVar Annotator: match by term: PGAP3-related condition OMIM
ClinVar		 PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 More... NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,883,406...83,903,407 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 ClinVar NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,796,502...69,889,671
Ensembl chr10:69,794,007...69,889,634 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,511,627...69,773,888
Ensembl chr10:69,511,857...69,773,888 		JBrowse link
G C10h17orf78 similar to human chromosome 17 open reading frame 78 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,537,701...69,552,358
Ensembl chr10:69,535,160...69,583,661 		JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,322,062...69,344,856
Ensembl chr10:69,322,114...69,428,714 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:70,195,637...70,205,735
Ensembl chr10:70,195,637...70,205,893 		JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,433,949...69,463,863
Ensembl chr10:69,426,730...69,462,837 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:70,208,950...70,240,554
Ensembl chr10:70,208,950...70,246,260 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,233,377...69,287,360
Ensembl chr10:69,233,131...69,287,361 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,894,288...69,901,076
Ensembl chr10:69,894,288...69,901,076 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:70,187,842...70,194,785
Ensembl chr10:70,188,748...70,194,131 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 More... NCBI chr10:70,250,500...70,279,867
Ensembl chr10:70,250,022...70,279,858 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 OMIM
ClinVar		 PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,346,154...69,428,714
Ensembl chr10:69,322,114...69,428,714 		JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,463,966...69,511,612
Ensembl chr10:69,463,968...69,511,607 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 OMIM
ClinVar		 PMID:25741868 PMID:26293662 PMID:28492532 NCBI chr 8:28,965,634...28,967,876
Ensembl chr 8:28,965,617...28,968,508 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 ClinVar PMID:25741868 PMID:26293662 PMID:28492532 NCBI chr 4:88,832,008...88,835,643
Ensembl chr 4:88,831,676...88,836,274 		JBrowse link
hyperphosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GALNT3-related condition 		CTD
ClinVar		 PMID:15133511 PMID:17710231 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Pth parathyroid hormone IDA
ISO 		associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic 		CTD
RGD		 PMID:12399635 PMID:23548309 PMID:23211335 RGD:7242565, RGD:7242693 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO protein:increased expression:kidney (mouse) RGD PMID:18835926 PMID:20418498 RGD:7242940, RGD:7243099 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
OMIM:211900 		CTD
ClinVar
MouseDO		 PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323 		JBrowse link
G Kl Klotho ISO
ISS 		ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
OMIM:211900 		ClinVar
MouseDO		 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:159,537,391...159,550,454 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:183,485,259...183,509,712 		JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,195,440...154,261,141
Ensembl chr 4:154,172,567...154,231,666 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356 		JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:161,374,407...161,400,230 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,200,471...160,541,830
Ensembl chr 4:160,182,152...160,541,821 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418 		JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,081,261...155,181,255
Ensembl chr 4:155,081,261...155,181,244 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
G Ccdc77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,206,402...155,238,235
Ensembl chr 4:155,193,275...155,239,207 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:159,716,935...159,721,823 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:159,942,560...159,975,444 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:159,017,795...159,051,069 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:159,452,897...159,460,315 		JBrowse link
G Cracr2a calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:162,094,247...162,207,926
Ensembl chr 4:162,110,929...162,221,529 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,030,181...154,068,038
Ensembl chr 4:154,030,690...154,068,035 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,523,426...157,526,810
Ensembl chr 5:93,143,318...93,144,472
Ensembl chr 4:93,143,318...93,144,472 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,401,580...161,443,816
Ensembl chr 4:161,401,580...161,443,791 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220 		JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,435,936...154,727,987
Ensembl chr 4:154,435,944...154,727,987 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr16:76,801,218...76,808,469 JBrowse link
G Fbxl14 F-box and leucine-rich repeat protein 14 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,334,820...154,338,638
Ensembl chr 4:154,334,092...154,377,959 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More... NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:161,541,089...161,553,521 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,389,464...163,397,918
Ensembl chr 4:163,389,464...163,397,918 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450 		JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:163,325,614...163,337,172 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 OMIM
ClinVar		 PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 More... NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,307,603...161,336,485 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,348,465...159,354,577
Ensembl chr 4:159,348,303...159,354,390 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,631,309...159,648,531
Ensembl chr 4:159,630,763...159,648,527 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:159,528,189...159,536,761 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,283,040...156,379,396
Ensembl chr 4:156,283,043...156,379,396 		JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,371,125...163,384,676
Ensembl chr 4:163,338,702...163,384,367 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240 		JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:155,238,124...155,316,121
Ensembl chr 4:155,238,044...155,316,121 		JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,127,571...157,139,372
Ensembl chr 4:157,127,571...157,139,372 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:159,398,932...159,406,669 		JBrowse link
G LOC120102747 small nucleolar RNA U89 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,206,825...159,207,085
Ensembl chr 4:159,206,825...159,207,085 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,556,735...159,570,216
Ensembl chr 4:159,554,805...159,571,894 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:159,267,574...159,277,794 		JBrowse link
G Lrtm2 leucine-rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,158,165...154,180,389
Ensembl chr 4:154,158,168...154,167,641 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296 		JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,173,154...157,182,293
Ensembl chr 4:157,173,125...157,182,277 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,209,525...159,209,618 JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,425,542...159,430,584
Ensembl chr 4:159,411,732...159,430,571 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:159,677,827...159,681,641 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:159,655,051...159,677,938 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984 		JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,978,660...155,080,860
Ensembl chr 4:155,073,295...155,080,860 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,618,894...159,630,697
Ensembl chr 4:159,618,966...159,630,697 		JBrowse link
G Nrip2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,359,592...163,370,144
Ensembl chr 4:163,360,665...163,370,141 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:159,332,434...159,348,004 		JBrowse link
G Parp11 poly (ADP-ribose) polymerase family, member 11 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,984,192...162,030,550
Ensembl chr 4:161,991,042...162,030,557 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,182,348...157,205,504
Ensembl chr 4:157,182,348...157,204,709 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,482,678...159,491,085
Ensembl chr 4:159,482,648...159,491,083 		JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,849,987...159,885,730
Ensembl chr 4:159,849,364...159,868,122 		JBrowse link
G Prmt8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:162,221,986...162,304,036
Ensembl chr 4:162,221,986...162,307,310 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:159,408,649...159,415,212 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:161,445,512...161,458,680 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021 		JBrowse link
G Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,320,141...163,325,527
Ensembl chr 4:163,320,049...163,325,790 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727 		JBrowse link
G Scarna10 small Cajal body-specific RNA 10 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,672,790...159,673,117
Ensembl chr 4:159,672,790...159,673,117 		JBrowse link
G Scarna11 small Cajal body-specific RNA 11 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,609,251...159,609,386
Ensembl chr 4:159,609,251...159,609,386 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186 		JBrowse link
G Slc6a12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,257,518...156,275,870
Ensembl chr 4:156,254,208...156,275,879 		JBrowse link
G Slc6a13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:156,211,381...156,248,491
Ensembl chr 4:156,211,462...156,248,489 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:159,299,159...159,309,021 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137 		JBrowse link
G Tead4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,180,192...163,258,342
Ensembl chr 4:163,180,192...163,258,479 		JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,337,320...163,347,948
Ensembl chr 4:163,337,361...163,346,310 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:161,613,306...161,632,229 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:162,500,029...162,681,699
Ensembl chr 4:162,500,029...162,574,208 		JBrowse link
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:163,276,583...163,318,297
Ensembl chr 4:163,276,583...163,318,390 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,800,590...154,926,147
Ensembl chr 4:154,800,590...154,926,147 		JBrowse link
G Wnt5b Wnt family member 5B ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:154,281,852...154,405,681 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 ClinVar PMID:25378588 PMID:29389098 NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:159,496,729...159,526,010 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM
ClinVar		 PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More... NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO ClinVar Annotator: match by term: KL-related condition | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 OMIM
ClinVar		 PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 PMID:32870266 More... NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
Hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia 		CTD
ClinVar		 PMID:7874174 PMID:11701698 PMID:25741868 PMID:28492532 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701698 PMID:11770836 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
hypokalemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1848636 PMID:2826064 PMID:17292646 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 IEP RGD PMID:17409277 RGD:1626084 NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:63,899,222...63,913,315 		JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit IEP RGD PMID:9729517 RGD:13838663 NCBI chr15:34,559,209...34,583,866
Ensembl chr15:34,559,209...34,583,866 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chr15:102,269,858...102,361,589
Ensembl chr15:102,269,858...102,361,589 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) RGD PMID:28931751 RGD:38500204 NCBI chr10:96,489,329...96,520,745
Ensembl chr10:96,460,331...96,566,075 		JBrowse link
G Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi RGD PMID:28931751 RGD:38500204
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 More... NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Rhcg Rh family, C glycoprotein IEP protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chr 1:142,941,046...142,965,242
Ensembl chr 1:142,941,048...142,965,376 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 More... NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,636,596...10,675,050 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2563217 NCBI chr11:90,461,546...90,462,823
Ensembl chr11:90,461,546...90,462,823 		JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:33811157 NCBI chr10:96,489,329...96,520,745
Ensembl chr10:96,460,331...96,566,075 		JBrowse link
hypophosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Hypophosphatemia ClinVar PMID:25741868 NCBI chr10:54,329,224...54,353,167
Ensembl chr10:54,329,043...54,353,166 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Hypophosphatemia ClinVar PMID:25741868 NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemia ClinVar PMID:18784102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,901,227...100,919,579 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898264 NCBI chr11:75,965,717...76,006,733
Ensembl chr11:75,965,632...76,002,380 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Hypophosphatemia ClinVar NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
IEP 		CTD Direct Evidence: marker/mechanism
protein:altered expression:renal cortex, brush border membrane (rat)
mRNA:decreased expression:kidney (mouse) 		CTD
RGD		 PMID:9560283 PMID:19515808 PMID:20466874 PMID:9560283 PMID:19933269 RGD:7242939, RGD:7243098, RGD:7243007, RGD:7242942 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,212,819...9,220,664 		JBrowse link
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Dominant hypophosphatemia with nephrolithiasis or osteoporosis ClinVar PMID:18784102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,901,227...100,919,579 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,212,819...9,220,664 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,901,227...100,919,579 		JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:22876375 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar
RGD		 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... RGD:10044208 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets 		ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chr 8:83,718,897...83,902,128
Ensembl chr 8:83,718,914...83,900,286 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human) 		OMIM
ClinVar
CTD
RGD		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:71,400,615...71,407,315
Ensembl chr16:71,400,615...71,407,315 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:71,411,847...71,454,225
Ensembl chr16:71,417,039...71,454,225 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 3:129,680,543...129,698,886
Ensembl chr 3:129,680,546...129,699,203 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,767,864...72,786,193
Ensembl chr16:72,767,627...72,788,229 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,656,929...72,751,696
Ensembl chr16:72,657,019...72,764,071 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 		CTD
ClinVar		 PMID:23913003 PMID:25741868 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,631,638...72,656,893
Ensembl chr16:72,631,638...72,656,469 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 More... NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 PMID:27726124 NCBI chr16:76,245,838...76,266,786
Ensembl chr16:76,253,443...76,267,911 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:72,608,096...72,612,690
Ensembl chr16:72,607,305...72,612,690 		JBrowse link
Idiopathic Basal Ganglia Calcification 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 10, autosomal recessive OMIM
ClinVar		 PMID:36443312 NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:48,802,321...48,813,652 		JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar		 PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar		 PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 More... NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification OMIM
ClinVar		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr13:69,991,517...70,136,249
Ensembl chr13:69,996,692...70,136,164 		JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581 		JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr11:37,316,287...37,366,517
Ensembl chr11:37,317,511...37,367,510 		JBrowse link
Idiopathic Basal Ganglia Calcification 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive ClinVar
OMIM		 PMID:38480682 NCBI chr10:12,129,026...12,149,053
Ensembl chr10:12,131,429...12,139,262 		JBrowse link
Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,095,701...172,101,945
Ensembl chr 5:172,094,940...172,101,195 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579 		JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,102,369...172,114,168
Ensembl chr 5:172,101,223...172,114,162 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,087,524...172,095,566
Ensembl chr 5:172,087,055...172,095,374 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069 		JBrowse link
Infantile Hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile hypercalcemia 		CTD
ClinVar		 PMID:25741868 NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercalcemia, infantile 		CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
infantile hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
infantile hypercalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:16199547 PMID:16688119 PMID:17576681 More... NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition 		OMIM
CTD
ClinVar		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:225,559,528...225,747,106
Ensembl chr 1:225,576,872...225,747,108 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr 3:134,499,617...134,588,113
Ensembl chr 3:134,499,617...134,588,113 		JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Atp7a ATPase copper transporting alpha severity ISO
IEP 		mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat) 		RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP
ISO 		associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP 		mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Il6 interleukin 6 treatment IEP associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 PMID:31524964 RGD:11062011, RGD:598092517 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat) 		RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587 		JBrowse link
G Mb myoglobin IEP protein:decreased expression:skeletal muscle RGD PMID:956378 RGD:488078620 NCBI chr 7:110,640,511...110,647,742
Ensembl chr 7:110,640,512...110,647,958 		JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 IEP
ISO 		protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia 		ClinVar
RGD		 PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 More... RGD:1601513 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta: 		CTD
RGD		 PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
iron metabolism disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:18723004 RGD:2301196 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16988052 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16822677 NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632513 NCBI chr 8:117,452,868...117,471,780
Ensembl chr 8:117,452,936...117,471,768 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163184 PMID:17254562 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA associated with type 2 diabetes mellitus RGD PMID:27222135 RGD:13782085 NCBI chr12:39,733,519...39,782,942
Ensembl chr12:39,733,458...39,782,934 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Iron Overload ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Bmp6 bone morphogenetic protein 6 susceptibility ISO ClinVar Annotator: match by term: BMP6-related condition | ClinVar Annotator: match by term: Iron overload, susceptibility to OMIM
ClinVar		 PMID:26582087 PMID:28335084 PMID:28492532 PMID:32464486 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20801540 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP protein:enzyme activity:platelet RGD PMID:17119848 RGD:9685486 NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317 		JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment ISO associated with Beta-Thalassemia; RGD PMID:24282296 RGD:11041571 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO DNA:snp:5' utr:c.-165T>A (human)
ClinVar Annotator: match by term: Iron Overload
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 More... RGD:737708 NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 IEP protein:increased activity:liver RGD PMID:9559866 RGD:14747018 NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,141...13,088,050 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO associated with Beta-Thalassemia RGD PMID:16317757 RGD:11352779 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Beta-Thalassemia;DNA:deletion: : (human) RGD PMID:19838709 RGD:10755320 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with Beta-Thalassemia;DNA:deletion: : (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP 		associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum 		CTD
RGD		 PMID:20801540 PMID:22659129 PMID:19734422 PMID:19524651 RGD:11041610, RGD:11041720 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation: :p.C282Y (human)
DNA:missense mutations: :p.C282Y, p.H63D (human)
associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human)
DNA:missense mutation: :multiple 		RGD PMID:14636644 PMID:10895137 PMID:11869934 PMID:14636644 RGD:10755536, RGD:10755542, RGD:10755541, RGD:10755536 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:decreased expression:cerebral cortex (rat) RGD PMID:19943190 RGD:6893272 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520 		JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:27403880 RGD:13800907 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO DNA:snp:exon:c.1285G>C (human) RGD PMID:15459009 RGD:1580431 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17052926 NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
ISOLATED HYPERFERRITINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stab1 stabilin 1 ISO ClinVar Annotator: match by term: Isolated hyperferritinemia ClinVar
OMIM		 PMID:37490907 NCBI chr16:6,336,871...6,367,374
Ensembl chr16:6,336,871...6,364,579 		JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia 		OMIM
CTD
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:219,065,542...219,081,213
Ensembl chr 1:219,065,601...219,081,211 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:55,983,627...56,031,578
Ensembl chr17:55,985,707...56,032,302 		JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein ISO DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human)
ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 More... RGD:1600783 NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859 		JBrowse link
L-Ferritin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive OMIM
ClinVar		 PMID:15173247 PMID:17182944 PMID:18414213 PMID:23940258 PMID:25741868 More... NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: L-ferritin deficiency ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419 		JBrowse link
Labrune Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr10:54,361,898...54,373,776
Ensembl chr10:54,361,898...54,373,776 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr10:54,273,655...54,273,790
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:26595381 PMID:27571260 PMID:28177126 PMID:28492532 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9328929 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
Medial Coronary Sclerosis of Infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy ClinVar PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:111,262,792...111,368,099 		JBrowse link
G Gng5-ps4 G protein subunit gamma 5, pseudogene 4 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr11:58,096,275...58,096,795
Ensembl chr11:58,096,362...58,096,565 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:111,509,060...111,517,348 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:111,084,830...111,245,419
Ensembl chr  X:111,085,712...111,245,417 		JBrowse link
Neonatal Hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr 1:191,842,688...191,845,919
Ensembl chr 1:191,842,636...191,845,921 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:191,833,743...191,871,633 		JBrowse link
nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:8101040 PMID:9136629 PMID:9192270 PMID:10541294 PMID:10960483 More... NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:25741868 NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:111,262,792...111,368,099 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:9916796 PMID:12414817 PMID:16199547 PMID:16611712 PMID:16769747 More... NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
G Brd4 bromodomain containing 4 ISS MouseDO NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,866,997...11,946,923 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:10390358 PMID:25741868 PMID:28893421 NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 PMID:28893421 PMID:33025205 PMID:34805638 NCBI chr 5:138,148,234...138,155,672
Ensembl chr 5:138,148,501...138,155,666 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:9536098 PMID:10484776 PMID:11030416 PMID:12185464 PMID:14635115 More... NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:9430241 NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISS MouseDO NCBI chr10:92,212,303...92,222,849
Ensembl chr10:92,212,304...92,222,726 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Pth parathyroid hormone IDA RGD PMID:23344571 RGD:7242573 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:8640224 PMID:9585600 PMID:17998760 PMID:18391953 PMID:19096086 More... NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:132,859,590...132,936,340 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20160351 NCBI chr14:1,180,465...1,190,257
Ensembl chr14:1,184,649...1,190,255 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO associated with Hypercalciuria
ClinVar Annotator: match by term: Nephrocalcinosis 		ClinVar
RGD		 PMID:16199547 PMID:16688119 PMID:25741868 PMID:26047794 PMID:28492532 More... RGD:7242938 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Nephrocalcinosis ClinVar PMID:18947684 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 More... NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775 		JBrowse link
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 9:22,981,880...22,993,536
Ensembl chr 9:22,794,978...22,993,536 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16199547 PMID:16964263 PMID:17485642 PMID:20683840 PMID:21060012 More... NCBI chr 5:158,575,727...158,595,157
Ensembl chr 5:158,575,749...158,595,156 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21981780 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 More... NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 More... NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:12351628 PMID:15885371 PMID:16629161 PMID:18408989 PMID:18414213 More... NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:28492532 PMID:29395073 PMID:34085946 NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099 		JBrowse link
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 3:76,271,503...76,303,321
Ensembl chr 3:76,271,519...76,303,320 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 More... NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 2:104,413,618...104,455,091
Ensembl chr 2:104,413,417...104,455,091 		JBrowse link
G Pank2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20629144 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:2668131 PMID:2939507 PMID:16199547 PMID:16783378 PMID:17033970 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:28492532 PMID:29395073 NCBI chr 1:14,517,589...14,595,404
Ensembl chr 1:14,517,589...14,595,404 		JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 		CTD
ClinVar		 PMID:16199547 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 More... NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,495,396...112,508,186
Ensembl chr 7:112,495,462...112,508,128 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,704,798...112,731,691
Ensembl chr 7:112,704,682...112,731,127 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,958,348...111,964,948
Ensembl chr 7:111,958,350...111,966,871 		JBrowse link
G C7h22orf23 similar to human chromosome 22 open reading frame 23 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,585,341...112,592,938
Ensembl chr 7:112,584,818...112,593,109 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,210,944...112,252,044
Ensembl chr 7:112,210,776...112,239,806 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,097,220...113,103,831 JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,275,759...112,283,665
Ensembl chr 7:112,275,792...112,283,664 		JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,808,669...111,825,522
Ensembl chr 7:111,808,670...111,825,412 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,756,950...111,782,089
Ensembl chr 7:111,757,405...111,784,654 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:112,863,731...112,884,101 		JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,032,711...112,057,204
Ensembl chr 7:112,032,775...112,057,204 		JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,971,522...112,989,747
Ensembl chr 7:112,971,523...112,989,747 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,005,278...113,047,854
Ensembl chr 7:113,005,281...113,047,854 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 More... NCBI chr 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648 		JBrowse link
G Eif3l eukaryotic translation initiation factor 3, subunit L ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,522,222...112,544,063
Ensembl chr 7:112,507,831...112,544,062 		JBrowse link
G Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,101,998...112,153,280
Ensembl chr 7:112,074,331...112,153,451 		JBrowse link
G Fam227a family with sequence similarity 227, member A ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,054,751...113,096,898
Ensembl chr 7:113,054,751...113,096,868 		JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,483,183...112,496,359
Ensembl chr 7:112,485,672...112,488,136 		JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,475,572...112,481,920
Ensembl chr 7:112,475,496...112,482,664 		JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,316,530...112,332,249
Ensembl chr 7:112,315,449...112,332,249 		JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,128,645...113,153,094
Ensembl chr 7:113,128,670...113,154,621 		JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,473,280...112,475,140
Ensembl chr 7:112,473,222...112,475,006 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537 		JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,110,709...113,124,632
Ensembl chr 7:113,110,717...113,124,632 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,927,494...112,954,547
Ensembl chr 7:112,922,532...112,954,826 		JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,859,556...111,891,869
Ensembl chr 7:111,859,256...111,870,692 		JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,959,632...112,969,858
Ensembl chr 7:112,959,718...112,969,858 		JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:112,361,850...112,368,800 		JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,283,630...112,290,228
Ensembl chr 7:112,282,822...112,285,392 		JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,792,787...112,804,139
Ensembl chr 7:112,791,416...112,804,147 		JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,191,288...112,209,129
Ensembl chr 7:112,161,071...112,209,129 		JBrowse link
G Micall1 MICAL-like 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,557,192...112,587,618
Ensembl chr 7:112,557,192...112,587,618 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,836,079...111,843,651
Ensembl chr 7:111,835,587...111,843,650 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,705,926...111,723,893
Ensembl chr 7:111,706,520...111,723,898 		JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,373,749...112,379,362
Ensembl chr 7:112,373,845...112,380,357 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,352,971...112,358,419
Ensembl chr 7:112,352,726...112,358,419 		JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,676,890...112,697,275
Ensembl chr 7:112,677,322...112,697,257 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO
ISS 		ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration | ClinVar Annotator: match by term: Seitelberger disease
OMIM:256600
DNA:deletions, missense mutations, nonsense mutation: exon:multiple 		OMIM
ClinVar
MouseDO
RGD		 PMID:2668131 PMID:2939507 PMID:9536098 PMID:16199547 PMID:16783378 More... RGD:12910703 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666 		JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,653,820...111,668,469
Ensembl chr 7:111,653,111...111,668,446 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:111,996,742...112,009,267 		JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,338,087...112,350,659
Ensembl chr 7:112,338,107...112,350,659 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,698,701...112,702,496
Ensembl chr 7:112,698,701...112,702,496 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990 		JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,973,049...111,980,250
Ensembl chr 7:111,972,811...111,997,368 		JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,155,766...113,172,950
Ensembl chr 7:113,155,766...113,172,940 		JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,805,512...112,848,398
Ensembl chr 7:112,805,512...112,848,351 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116 		JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,103,863...113,109,056
Ensembl chr 7:113,103,860...113,109,053 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,828,557...111,836,980
Ensembl chr 7:111,828,558...111,837,116 		JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: BASAL GANGLIA DISEASE, ADULT-ONSET | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human) 		ClinVar
CTD
OMIM
RGD		 PMID:9226182 PMID:9414300 PMID:11438811 PMID:12200611 PMID:12746423 More... RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:29091079 PMID:31345363 PMID:38876456 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:101,572,340...101,595,520 		JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:18,107,275...18,117,549 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,780,932...3,845,919
Ensembl chr  X:3,780,932...3,792,611 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,437,219...17,443,716
Ensembl chr  X:17,425,624...17,444,717 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:17,535,659...17,582,130 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,046,330...4,057,825
Ensembl chr  X:4,026,866...4,057,380 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:3,710,425...3,721,112 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:16,971,405...16,977,781 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:3,693,293...3,709,249 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,245,915...17,250,301
Ensembl chr  X:17,245,789...17,250,293 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:16,916,033...16,923,999 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,145,936...17,160,733
Ensembl chr  X:17,145,938...17,160,619 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,463,521...17,478,298
Ensembl chr  X:17,463,525...17,478,298 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:17,350,819...17,380,588 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,333,612...17,349,255
Ensembl chr  X:17,333,612...17,347,799 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,496,092...17,504,370
Ensembl chr  X:17,496,225...17,504,369 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:17,930,637...17,930,728 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,126,317...4,128,575
Ensembl chr  X:4,126,245...4,128,566 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,998,587...19,005,208
Ensembl chr  X:18,998,461...19,005,208 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:17,296,750...17,331,257
Ensembl chr  X:17,298,029...17,331,054 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:17,289,509...17,294,778 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:17,506,059...17,509,550 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,957,811...16,970,440
Ensembl chr  X:16,957,810...16,970,439 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:17,601,239...17,617,102 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,445,313...17,447,950
Ensembl chr  X:17,445,313...17,447,950 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:4,093,914...4,126,060 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:17,020,864...17,024,841 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:18,540,913...18,748,700 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,885,701...16,894,470
Ensembl chr  X:16,885,701...16,894,470 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,472,369...3,475,552
Ensembl chr  X:3,472,369...3,475,822 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:16,604,449...16,612,210 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,093,059...17,105,942
Ensembl chr  X:17,092,986...17,105,942 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,725,745...3,780,940
Ensembl chr  X:3,725,714...3,780,938 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:17,521,348...17,536,984 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,986,629...17,010,228
Ensembl chr  X:16,986,269...17,010,230 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,401,466...17,414,829
Ensembl chr  X:17,401,466...17,414,685 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,268,257...17,275,424
Ensembl chr  X:17,268,257...17,275,563 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:4,062,182...4,084,246 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,026,865...4,043,036 JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:17,794,884...17,798,879 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,679,630...3,691,944
Ensembl chr  X:3,679,687...3,695,442 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,034,779...17,045,682
Ensembl chr  X:17,034,504...17,045,679 		JBrowse link
G Wdr45 WD repeat domain 45 ISO
ISS 		ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
OMIM:300894 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr12:21,356,253...21,393,006
Ensembl chr12:21,362,004...21,384,470 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,480,991...3,555,009
Ensembl chr  X:3,472,127...3,555,013 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,581,501...3,679,905
Ensembl chr  X:3,589,044...3,679,333 		JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO
ISS 		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
OMIM:615643 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 More... NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 | ClinVar Annotator: match by term: REPS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 1:14,517,589...14,595,404
Ensembl chr 1:14,517,589...14,595,404 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CRAT-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 PMID:31448845 PMID:34085946 NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: FTH1-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 ClinVar PMID:14615048 PMID:28492532 PMID:37660254 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: FTH1-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 OMIM
ClinVar		 PMID:14615048 PMID:28492532 PMID:37265023 PMID:37660254 NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis ClinVar
OMIM		 PMID:24259288 PMID:34875027 NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PPFIA binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:35830857 NCBI chr 4:181,538,249...181,682,079
Ensembl chr 4:181,539,450...181,682,076 		JBrowse link
normophosphatemic familial tumoral calcinosis 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: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 More... NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:32,117,137...32,171,759 		JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:5,725,308...5,736,858
Ensembl chr14:5,725,175...5,736,996 		JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:138,724,046...138,736,347 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,817,752...138,832,208
Ensembl chr 3:138,813,179...138,831,847 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,246,333...139,262,331
Ensembl chr 3:139,246,323...139,262,331 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,882,634...138,885,940
Ensembl chr 3:138,882,634...138,888,899 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:138,563,312...138,697,360 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:138,860,130...138,870,492 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,967,870...140,006,459
Ensembl chr 3:139,967,742...140,009,201 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,850,003...138,852,796
Ensembl chr 3:138,841,679...138,854,372 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,496,712...140,510,057
Ensembl chr 3:140,495,951...140,510,054 		JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,041,645...138,048,443
Ensembl chr 3:138,041,645...138,048,857 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,572,680...140,591,543
Ensembl chr 3:140,572,716...140,591,599 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:138,315,282...138,335,766 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,370,971...138,505,711
Ensembl chr 3:138,372,531...138,505,695 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,951,310...138,019,682
Ensembl chr 3:137,951,335...138,019,665 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,283,315...138,300,803
Ensembl chr 3:138,272,928...138,301,291 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:140,624,434...140,666,419 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,707,970...138,715,279
Ensembl chr 3:138,703,114...138,711,561 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,240,574...140,285,469
Ensembl chr 3:140,240,575...140,285,372 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,799,396...138,817,396
Ensembl chr 3:138,799,398...138,818,935 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,592,303...140,603,986
Ensembl chr 3:140,592,076...140,605,574 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,303,378...138,313,645
Ensembl chr 3:138,303,378...138,313,611 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,539,590...140,569,891
Ensembl chr 3:140,539,647...140,569,891 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:138,963,227...138,963,312 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,222,324...138,223,987
Ensembl chr 3:138,222,165...138,223,987 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:137,929,646...137,934,959 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pantothenate kinase-associated neurodegeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 More... NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,049,747...138,076,107
Ensembl chr 3:138,067,891...138,075,146 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:137,354,161...137,366,503 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,666,383...139,671,647
Ensembl chr 3:139,666,068...139,671,890 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,103,261...138,212,835
Ensembl chr 3:138,098,110...138,213,126 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,697,187...139,733,402
Ensembl chr 3:139,697,187...139,733,368 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,973,492...138,987,354
Ensembl chr 3:138,973,492...139,028,177 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,391,611...140,462,273
Ensembl chr 3:140,389,220...140,462,609 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,740,171...138,759,966
Ensembl chr 3:138,741,019...138,759,881 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,755,583...139,913,304
Ensembl chr 3:139,755,584...139,847,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,353,305...138,365,983
Ensembl chr 3:138,353,305...138,365,754 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,184,793...139,220,174
Ensembl chr 3:139,184,798...139,220,170
Ensembl chr  X:139,184,798...139,220,170 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,840,019...9,860,142 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,706,753...9,712,076 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,843,679...138,849,762 JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,465,884...137,498,554
Ensembl chr 3:137,470,110...137,498,940 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:137,681,809...137,717,219 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:137,774,630...137,807,873 		JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,849,513...137,917,462
Ensembl chr 3:137,849,513...137,917,462 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,925,878...139,950,517 JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,057,799...138,059,090
Ensembl chr 3:138,053,765...138,063,665 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,527,785...140,539,520
Ensembl chr 3:140,527,788...140,539,509 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,259,311...138,300,807
Ensembl chr 3:138,259,311...138,300,807 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,075,649...138,097,154
Ensembl chr 3:138,075,660...138,110,632 		JBrowse link
Phosphaturia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone IEP protein:decreased expression:serum (rat) RGD PMID:22859939 RGD:8655928 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
Primrose Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primrose syndrome | ClinVar Annotator: match by term: ZBTB20-related condition 		CTD
ClinVar
OMIM		 PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 More... NCBI chr11:70,558,010...71,297,039
Ensembl chr11:70,580,930...70,736,237 		JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 More... NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:33,391,303...33,430,411 		JBrowse link
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 | ClinVar Annotator: match by term: USP18-related condition OMIM
ClinVar		 PMID:12833411 PMID:25741868 PMID:27325888 PMID:28492532 PMID:31940699 NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:156,143,815...156,171,292 		JBrowse link
Pseudo-TORCH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459 		JBrowse link
pseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO
ISS 		DNA:deletions:exon
ClinVar Annotator: match by term: Pseudohypoparathyroidism
CTD Direct Evidence: marker/mechanism
OMIM:612462 		ClinVar
CTD
MouseDO
RGD		 PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 More... RGD:11568042, RGD:11568048, RGD:11568047 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 PMID:35846276 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
pseudohypoparathyroidism type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO
ISS 		ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A
OMIM:103580
DNA:deletions:exon:multiple
DNA:splice-site mutation 		OMIM
ClinVar
MouseDO
RGD		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... RGD:11568049, RGD:11568047 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
pseudohypoparathyroidism type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B ClinVar PMID:17595244 NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:112,196,767...112,201,181 		JBrowse link
G Gnas GNAS complex locus ISO DNA:hypomethylation:exon, promoter
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
DNA:deletion, hypomethylation
DNA:mutations:exon, intron:multiple 		ClinVar
OMIM
RGD		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... RGD:11568043, RGD:11568050, RGD:11568048, RGD:11568044 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar		 PMID:9536098 PMID:14561710 PMID:15579741 PMID:15800843 PMID:17576681 More... NCBI chr 3:183,271,417...183,300,746
Ensembl chr 3:183,272,031...183,300,745 		JBrowse link
pseudohypoparathyroidism type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C OMIM
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
pseudopseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO
ISS 		ClinVar Annotator: match by term: ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE | ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism
OMIM:612463
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:219790 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
pulmonary alveolar microlithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a2 solute carrier family 34 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS | ClinVar Annotator: match by term: SLC34A2-related condition 		OMIM
CTD
ClinVar		 PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:62,123,313...62,153,020
Ensembl chr14:62,123,316...62,143,360 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... RGD:11560486 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 9:87,336,321...87,395,546
Ensembl chr 9:87,336,326...87,395,505 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar		 PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 9:87,336,321...87,395,546
Ensembl chr 9:87,336,326...87,395,505 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: FARSA-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 OMIM
ClinVar		 PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 PMID:35918773 NCBI chr19:40,196,255...40,205,830
Ensembl chr19:40,173,716...40,205,823 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396 		JBrowse link
G Cldn19 claudin 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLDN19-related condition | ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement 		OMIM
CTD
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 5:138,148,234...138,155,672
Ensembl chr 5:138,148,501...138,155,666 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO
ISS 		vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism 		MouseDO
CTD
RGD		 PMID:16494812 PMID:9486994 PMID:11416220 RGD:1600874, RGD:734871 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
G Vdr vitamin D receptor ISO
ISS 		VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
ClinVar Annotator: match by term: Rickets
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:1338926 PMID:8392085 PMID:17451081 PMID:22145479 PMID:22466564 More... RGD:1624354 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
SHORT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO
ISS 		ClinVar Annotator: match by term: SHORT syndrome
OMIM:269880
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 More... NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995 		JBrowse link
Tetany term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap5 A-kinase anchoring protein 5 IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:12542670 RGD:2313247 NCBI chr 6:100,787,169...100,796,712
Ensembl chr 6:100,790,148...100,796,620 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr 1:255,585,063...255,709,455
Ensembl chr 1:255,585,095...255,704,849 		JBrowse link
Tropical Calcific Pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spink1 serine peptidase inhibitor, Kazal type 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tropical calcific pancreatitis 		CTD
OMIM
ClinVar		 PMID:10691414 PMID:10835640 PMID:11265669 PMID:11355022 PMID:12011155 More... NCBI chr18:36,121,626...36,133,596
Ensembl chr18:36,076,399...36,133,545 		JBrowse link
Vascular Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor disease_progression ISO associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse) 		RGD PMID:21643645 PMID:22305260 PMID:21099228 RGD:7243940, RGD:7245562, RGD:7243959 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Cd40 CD40 molecule ISO associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd40lg CD40 ligand ISO associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23223575 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP associated with obesity RGD PMID:24370590 RGD:401827910 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405 		JBrowse link
G Kl Klotho ISO RGD PMID:21115613 RGD:10403077 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21705322 NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transition:cds:g.677C>T (human) RGD PMID:21394321 RGD:6893475 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO DNA:SNPs:cds, intron:multiple RGD PMID:22340269 RGD:6482770 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747 		JBrowse link
G Pth parathyroid hormone disease_progression IDA
IEP 		associated with Kidney Failure, Chronic
protein:increased expression:serum (rat) 		RGD PMID:23486515 PMID:22634235 RGD:7242416, RGD:7242900 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Runx2 RUNX family transcription factor 2 treatment IEP associated with chronic kidney disease; RGD PMID:31866376 RGD:598092521 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment ISO
IMP 		ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9415400 PMID:9486994 PMID:9536098 PMID:9837822 PMID:10518789 More... RGD:32716373 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Foxp2 forkhead box P2 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:178,041,207...178,204,503 		JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16199547 PMID:16549493 More... NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16199547 PMID:16549493 More... NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:178,041,207...178,204,503 		JBrowse link
vitamin D-dependent rickets type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452 		JBrowse link
G Vdr vitamin D receptor treatment ISO
IMP 		ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: RICKETS-ALOPECIA SYNDROME | ClinVar Annotator: match by term: VDR-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction: 		OMIM
ClinVar
CTD
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka treatment IMP RGD PMID:32231239 RGD:32716373
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka treatment IMP compared to untreated vdr KO RGD PMID:32231239 RGD:32716373
VITAMIN D-DEPENDENT RICKETS, TYPE 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 OMIM
ClinVar		 PMID:25741868 PMID:29461981 NCBI chr12:14,321,771...14,343,886
Ensembl chr12:14,321,771...14,343,857 		JBrowse link
X-linked hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:22876375 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO
ISS 		ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
OMIM:307800
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction: 		OMIM
ClinVar
MouseDO
RGD		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9328929 PMID:9734595 More... NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Nutritional and Metabolic Diseases 8562
      disease of metabolism 8562
        mineral metabolism disease 960
          calcium metabolism disease + 632
          hypokalemia + 15
          iron metabolism disease + 248
          phosphorus metabolism disease + 211
Path 2
Term Annotations click to browse term
  disease 19150
    Nutritional and Metabolic Diseases 8562
      disease of metabolism 8562
        acquired metabolic disease 2546
          mineral metabolism disease 960
            calcium metabolism disease + 632
            hypokalemia + 15
            iron metabolism disease + 248
            phosphorus metabolism disease + 211
paths to the root