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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:metal metabolism disorder
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Accession:DOID:896 term browser browse the term
Definition:An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. (DO)
Synonyms:exact_synonym: Metal Metabolism, Inborn Error;   Metal Metabolism, Inborn Errors;   inborn metal metabolism disorder
 primary_id: MESH:D008664
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
metal metabolism disorder 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 hypomagnesemia with secondary hypocalcemia, OMIM:602014 RGD PMID:12032568 RGD:1599669 NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520 		JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
adult hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO
ISS		 ClinVar Annotator: match by term: Adult hypophosphatasia
OMIM:146300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
Albright's hereditary osteodystrophy 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 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
atransferrinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide treatment ISO RGD PMID:20956801 RGD:11041615 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Tf transferrin ISO
ISS		 OMIM:209300
ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 More... NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		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:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		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:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 More... RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		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 ISS
ISO		 OMIM:601198
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL		 MouseDO
ClinVar
OMIM		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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		 OMIM:615361
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2		 OMIM
MouseDO
ClinVar		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		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 chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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)
OMIM:193100
CTD Direct Evidence: marker/mechanism
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
DNA:missense mutation:cds:526C>T,p.R176W (human)		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		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:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		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 ISO
ISS		 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312		 ClinVar
MouseDO		 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		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 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
childhood hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO
ISS		 ClinVar Annotator: match by term: Childhood hypophosphatasia
OMIM:241510
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		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:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		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:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		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 chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		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 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
familial periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO DNA:missense mutation:192T>A (human)
ClinVar Annotator: match by term: Familial periodic paralysis		 ClinVar
RGD		 PMID:17324964 PMID:19201608 PMID:22581653 PMID:12045162 RGD:1580802 NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		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 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		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:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		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 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		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 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		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 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		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: 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 chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hfe homeostatic iron regulator ISS
ISO		 OMIM:235200
ClinVar Annotator: match by term: Hemochromatosis type 1		 MouseDO
ClinVar
OMIM		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		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 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		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 chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile hemochromatosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29764732 NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		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 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of ClinVar PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		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 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		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:15082576 PMID:15099344 PMID:15198949 More... NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		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 due to defect in transferrin receptor 2 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
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 chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		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 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		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 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		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 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
hyperkalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cep95 centrosomal protein 95 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,732,111...91,760,095
Ensembl chr10:91,732,111...91,760,092 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029 		JBrowse link
G Icam2 intercellular adhesion molecule 2 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293 		JBrowse link
G Lrrc37a leucine rich repeat containing 37A ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:88,395,837...88,433,519
Ensembl chr10:88,396,663...88,433,323 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
G Prr29 proline rich 29 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,305,820...91,320,661
Ensembl chr10:91,305,723...91,310,439 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO
ISS		 ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
OMIM:170500
DNA: missense mutation: exon 13 : p.T704M
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... RGD:13208536 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488 		JBrowse link
G Tex2 testis expressed 2 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,436,629...91,546,240
Ensembl chr10:91,436,694...91,546,270 		JBrowse link
hypermanganesemia with dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis		 CTD
ClinVar
OMIM		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
hypermanganesemia with dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 | ClinVar Annotator: match by term: SLC39A14-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27431290 PMID:28492532 PMID:28541650 PMID:29498153 More... NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
hypokalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO
ISS		 DNA, protein:missense mutations:cds:p.R528H,R1239H (human)
ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis
OMIM:170400 | OMIM:613345
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1982519 PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 More... RGD:1300372 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO RGD PMID:11207363 RGD:1600040 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis
OMIM:170400 | OMIM:613345		 CTD
ClinVar
MouseDO		 PMID:1310898 PMID:1338909 PMID:1659948 PMID:1918277 PMID:2173143 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		JBrowse link
G Arl8a ADP-ribosylation factor like GTPase 8A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,585,845...46,594,851
Ensembl chr13:46,585,845...46,594,851 		JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,491,799...47,493,269
Ensembl chr13:47,492,026...47,492,592 		JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,156,137...45,255,292
Ensembl chr13:45,156,146...45,255,246 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628 		JBrowse link
G C13h1orf116 similar to human chromosome 1 open reading frame 116 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426 		JBrowse link
G C4bpa complement component 4 binding protein, alpha ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205 		JBrowse link
G C4bpb complement component 4 binding protein, beta ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1
ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1		 CTD
OMIM
ClinVar		 PMID:1982519 PMID:3037387 PMID:7650604 PMID:7847370 PMID:7897626 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Camsap2 calmodulin regulated spectrin-associated protein family, member 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,723,251...47,802,606
Ensembl chr13:47,723,121...47,802,597 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cdk18 cyclin-dependent kinase 18 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,555,597...43,582,210
Ensembl chr13:43,556,748...43,588,525 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887 		JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Csrp1 cysteine and glycine-rich protein 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,158,171...47,179,388
Ensembl chr13:47,167,789...47,179,384 		JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502 		JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,849,017...45,855,458
Ensembl chr13:45,849,091...45,855,458 		JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214 		JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		JBrowse link
G Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,594,120...42,604,898
Ensembl chr13:42,594,121...42,604,778 		JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,615,901...42,637,107
Ensembl chr13:42,615,911...42,639,719 		JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481 		JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,451,130...43,475,035
Ensembl chr13:43,435,843...43,475,035 		JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,811,012...44,829,052
Ensembl chr13:44,811,015...44,829,037 		JBrowse link
G Fam72a family with sequence similarity 72, member A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,967,701...42,979,083
Ensembl chr13:42,967,578...42,984,208 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653 		JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133 		JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,760,356...44,773,123
Ensembl chr13:44,760,380...44,773,122 		JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,712,815...47,714,721
Ensembl chr13:47,713,592...47,714,671 		JBrowse link
G Gpr37l1 G protein-coupled receptor 37-like 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,598,574...46,605,421
Ensembl chr13:46,598,578...46,605,421 		JBrowse link
G Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,395,618...47,427,506
Ensembl chr13:47,395,595...47,437,879 		JBrowse link
G Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,712,154...42,738,470
Ensembl chr13:42,712,159...42,737,143 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487 		JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,666,446...47,687,383
Ensembl chr13:47,666,447...47,686,729 		JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,810,460...46,862,694
Ensembl chr13:46,813,171...46,862,673 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,735,702...43,744,277
Ensembl chr13:43,736,192...43,744,277 		JBrowse link
G Klhl12 kelch-like family member 12 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,899,913...45,933,648
Ensembl chr13:45,899,928...45,933,643 		JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,249,605...47,263,967
Ensembl chr13:47,249,605...47,263,967 		JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,134,825...45,145,381
Ensembl chr13:45,134,834...45,145,381 		JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,631,705...43,697,765
Ensembl chr13:43,665,926...43,697,948 		JBrowse link
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,321,944...44,382,454
Ensembl chr13:44,321,364...44,382,482 		JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,513,762...42,560,061
Ensembl chr13:42,513,762...42,560,457 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226 		JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467 		JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,653,156...45,660,893
Ensembl chr13:45,653,234...45,660,893 		JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,866,972...47,119,368
Ensembl chr13:46,873,689...47,126,449 		JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,997,223...44,183,863
Ensembl chr13:43,997,224...44,183,880 		JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604 		JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,345,091...43,374,316
Ensembl chr13:43,345,115...43,370,229 		JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,353,954...45,368,254
Ensembl chr13:45,355,148...45,365,237 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699 		JBrowse link
G Phlda3 pleckstrin homology-like domain, family A, member 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,193,250...47,196,335
Ensembl chr13:47,193,086...47,196,335 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875 		JBrowse link
G Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,494,673...44,555,663
Ensembl chr13:44,495,050...44,555,612 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,309,607...47,357,432
Ensembl chr13:47,309,614...47,357,465 		JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,614,740...44,754,951
Ensembl chr13:44,615,011...44,754,673 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979 		JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,237,954...43,259,999
Ensembl chr13:43,237,971...43,259,999 		JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,753,827...45,802,305
Ensembl chr13:45,753,827...45,802,261 		JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108 		JBrowse link
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737 		JBrowse link
G Prelp proline and arginine rich end leucine rich repeat protein ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,368,407...45,391,480
Ensembl chr13:45,370,533...45,380,270 		JBrowse link
G Ptpn7 protein tyrosine phosphatase, non-receptor type 7 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,570,904...46,584,048
Ensembl chr13:46,571,712...46,583,308 		JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,307,757...43,313,420
Ensembl chr13:43,307,775...43,313,417 		JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,936,371...45,948,929
Ensembl chr13:45,936,369...45,949,775 		JBrowse link
G Rassf5 Ras association domain family member 5 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024 		JBrowse link
G Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,912,254...43,939,107
Ensembl chr13:43,912,254...43,939,107 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,699,458...46,717,829
Ensembl chr13:46,699,463...46,717,998 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1		 CTD
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,799,735...46,803,816
Ensembl chr13:46,799,772...46,803,998 		JBrowse link
G Slc25a26 solute carrier family 25 member 26 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:25741868 NCBI chr 4:127,036,704...127,131,026
Ensembl chr 4:127,036,742...127,131,020 		JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330 		JBrowse link
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162 		JBrowse link
G Slc45a3 solute carrier family 45, member 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,407,293...43,427,588
Ensembl chr13:43,407,293...43,427,588 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,831,097...44,875,522
Ensembl chr13:44,831,085...44,875,762 		JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,745,956...42,967,091
Ensembl chr13:42,745,947...42,967,058 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Timm17a translocase of inner mitochondrial membrane 17A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,731,117...46,742,604
Ensembl chr13:46,730,660...46,742,655 		JBrowse link
G Tmcc2 transmembrane and coiled-coil domain family 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,794,029...43,831,716
Ensembl chr13:43,794,029...43,831,716 		JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,803,641...45,820,409
Ensembl chr13:45,803,639...45,820,375 		JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,939,677...43,942,108
Ensembl chr13:43,939,630...43,942,113 		JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,458,486...47,475,832
Ensembl chr13:47,458,498...47,475,832 		JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,229,217...47,241,640
Ensembl chr13:47,229,216...47,241,644 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205 		JBrowse link
G Zbed6 zinc finger, BED-type containing 6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,107,253...45,113,524
Ensembl chr13:45,071,718...45,114,009 		JBrowse link
G Zc3h11a zinc finger CCCH-type containing 11A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,073,422...45,113,901
Ensembl chr13:45,071,718...45,114,009 		JBrowse link
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2
CTD Direct Evidence: marker/mechanism
DNA: missense mutation : exon : p.R663H
DNA : missense mutation : exon : p.R672S		 OMIM
ClinVar
CTD
RGD		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More... RGD:13208531, RGD:13208529 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO ClinVar Annotator: match by term: Hypophosphatasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... RGD:1599076 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27466191 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619 		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 chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		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:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
infantile hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO
ISS		 ClinVar Annotator: match by term: Infantile hypophosphatasia
OMIM:241500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Infantile hypophosphatasia ClinVar PMID:28492532 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		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: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1		 OMIM
CTD
ClinVar		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520 		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 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		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		 OMIM
CTD
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO
ISS		 ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
OMIM:309400
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:p.G876delX2 (human)
DNA:mutations:multiple (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:snp:intron:c.4268+3A>T (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 More... RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:25741868 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Lox lysyl oxidase ISO
ISS		 OMIM:309400 MouseDO
RGD		 PMID:8638917 RGD:1581895 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
molybdenum cofactor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Molybdenum cofactor deficiency		 CTD
ClinVar		 PMID:28492532 NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar PMID:10053004 PMID:21031595 PMID:28492532 NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
molybdenum cofactor deficiency type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO
ISS		 ClinVar Annotator: match by term: MOCS1-related condition | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A
OMIM:252150
DNA:deletion:exon:722delT, 1523delAG (human)
DNA:missense mutations, splice site mutation, frameshift mutation: :multiple		 ClinVar
MouseDO
OMIM
RGD		 PMID:921896 PMID:7660932 PMID:9536098 PMID:9634514 PMID:9731530 More... RGD:1558665, RGD:1600439, RGD:1624402 NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:11746050 PMID:21031595 PMID:28492532 NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
molybdenum cofactor deficiency type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B ClinVar NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO
ISS		 ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B
OMIM:252160
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1427786 PMID:9459218 PMID:9536098 PMID:10053003 PMID:10053004 More... NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
molybdenum cofactor deficiency type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11095995 PMID:12684523 PMID:12754701 PMID:16199547 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		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 chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		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 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280 		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:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804 		JBrowse link
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive ClinVar PMID:15596759 PMID:18046642 PMID:19052238 PMID:19065518 PMID:19201608 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 More... RGD:11340205, RGD:11252184 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
Odontohypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia ClinVar PMID:1409720 PMID:8675582 PMID:9452105 PMID:9536098 PMID:10094560 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
Perinatal Lethal Hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Perinatal lethal hypophosphatasia ClinVar PMID:3174660 PMID:9781036 PMID:10679946 PMID:11745997 PMID:16199547 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
primary hypomagnesemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary hypomagnesemia		 CTD
ClinVar		 PMID:668721 PMID:10390358 PMID:10878661 PMID:11518780 PMID:15856319 More... NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		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 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 PMID:35846276 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
pseudohypoparathyroidism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... RGD:11568043, RGD:11568050, RGD:11568048, RGD:11568044 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar		 PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489 		JBrowse link
Pseudohypoparathyroidism Type IC 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:8702665 PMID:9876352 PMID:11092390 PMID:11600516 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		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: Pseudopseudohypoparathyroidism
OMIM:612463
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:8702665 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2		 CTD
ClinVar
OMIM
RGD		 PMID:3298795 PMID:9536098 PMID:11062458 PMID:11929868 PMID:12763860 More... RGD:1598986 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
renal hypomagnesemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO
ISS		 ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL
OMIM:248250		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 More... NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		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 chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO CTD Direct Evidence: marker/mechanism
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 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal hypomagnesemia 6		 OMIM
CTD
ClinVar		 PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rragd Ras-related GTP binding D ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | ClinVar Annotator: match by term: RRAGD-related condition OMIM
ClinVar		 PMID:34607910 NCBI chr 5:47,373,902...47,409,369
Ensembl chr 5:47,373,463...47,409,356 		JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1		 CTD
OMIM
ClinVar		 PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 PMID:9536098 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:3,314,830...3,318,106 JBrowse link
Wilson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30655162 More... NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601 		JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 7:24,313,339...25,479,307
Ensembl chr 7:24,312,843...25,477,693 		JBrowse link
G Anxa5 annexin A5 IEP
ISO		 protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21751376 PMID:21751376 RGD:10053726 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr12:16,304,719...16,309,568
Ensembl chr12:16,304,719...16,309,568 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atp7b ATPase copper transporting beta treatment IAGP
ISO
ISS
IDA		 DNA:deletion:exon
ClinVar Annotator: match by term: Wilson disease
OMIM:277900
ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease
compared to LEA/Hok
DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:626829 PMID:671269 PMID:893844 PMID:1000228 PMID:2333878 More... RGD:2292672, RGD:25823141, RGD:25823154, RGD:35316074, RGD:631728, RGD:25671604, RGD:1554300, RGD:21410182, RGD:734622 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:7951327 PMID:1561010 PMID:24358170 PMID:30733544 PMID:17303181 RGD:631728, RGD:25823154, RGD:35316074, RGD:25823141, RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339 		JBrowse link
G Commd1 copper metabolism domain containing 1 ISO Copper toxicosis, COMMD1-related OMIA PMID:1380748 PMID:3343179 PMID:6639527 PMID:6710813 PMID:6869968 More... NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501 		JBrowse link
G Cp ceruloplasmin treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum		 CTD
RGD		 PMID:7849148 PMID:22243965 PMID:23519153 PMID:15511628 PMID:18556333 RGD:1554300, RGD:14401715 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:3348368 RGD:2307322 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IDA RGD PMID:17303181 RGD:2292672 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067 		JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity IDA RGD PMID:17259995 RGD:1601345 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304 		JBrowse link
X-linked dominant 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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		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 chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		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:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		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:9734595 PMID:11136179 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          metal metabolism disorder 243
            Familial Hypophosphatemia + 13
            Hyperzincemia and Hypercalprotectinemia 0
            Hyperzincemia with Functional Zinc Depletion 0
            Idiopathic Copper Toxicosis 0
            Menkes disease + 8
            Wilson disease + 52
            Zinc, Elevated Plasma 0
            acrodermatitis enteropathica 1
            atransferrinemia 2
            autosomal dominant hypocalcemia + 8
            familial periodic paralysis + 124
            hemochromatosis + 24
            hypermanganesemia with dystonia + 2
            hypophosphatasia + 3
            molybdenum cofactor deficiency + 5
            occipital horn syndrome 1
            primary hypomagnesemia + 8
            pseudohypoparathyroidism + 4
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            metal metabolism disorder 243
              Familial Hypophosphatemia + 13
              Hyperzincemia and Hypercalprotectinemia 0
              Hyperzincemia with Functional Zinc Depletion 0
              Idiopathic Copper Toxicosis 0
              Menkes disease + 8
              Wilson disease + 52
              Zinc, Elevated Plasma 0
              acrodermatitis enteropathica 1
              atransferrinemia 2
              autosomal dominant hypocalcemia + 8
              familial periodic paralysis + 124
              hemochromatosis + 24
              hypermanganesemia with dystonia + 2
              hypophosphatasia + 3
              molybdenum cofactor deficiency + 5
              occipital horn syndrome 1
              primary hypomagnesemia + 8
              pseudohypoparathyroidism + 4
paths to the root