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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:renal tubular transport disease
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Accession:DOID:447 term browser browse the term
Definition:Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
Synonyms:exact_synonym: Kidney Tubular Transport, Inborn Error;   Kidney Tubular Transport, Inborn Errors;   Renal Tubular Transport Errors;   inborn renal tubular transport disorder;   renal tubular transport, inborn error;   renal tubular transport, inborn errors;   renal tubule disease
 primary_id: MESH:D015499
 xref: EFO:0009566;   EFO:1000647
For additional species annotation, visit the Alliance of Genome Resources.


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renal tubular transport disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auh AU RNA binding methylglutaconyl-CoA hydratase susceptibility ISO RGD PMID:12434311 RGD:1599425 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 IDA RGD PMID:12475763 RGD:628538 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Cldn16 claudin 16 susceptibility ISO DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 RGD PMID:10390358 RGD:1599615 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		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 dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Dclk2 doublecortin-like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 2:172,202,733...172,338,411
Ensembl chr 2:172,208,706...172,338,250 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO
ISS		 ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
OMIM:177735		 ClinVar
MouseDO
OMIM
RGD		 PMID:9662404 PMID:11134129 PMID:11344206 PMID:12483305 PMID:12679457 More... RGD:1600930 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489 		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
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO
ISS		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar PMID:25741868 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISS
ISO		 OMIM:264350
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive		 MouseDO
ClinVar		 PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18507830 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
OMIM:264350		 ClinVar
MouseDO		 PMID:8640238 PMID:10391210 PMID:11231969 PMID:12473862 PMID:15198480 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome		 ClinVar
RGD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... RGD:1600603 NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar
MouseDO		 PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar		 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More... NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
ClinVar Annotator: match by term: Bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:18391953 More... RGD:1624188 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a1 solute carrier family 12 member 1 ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition
OMIM:601678
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
OMIM:241200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 3
OMIM:607364
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO
ISS		 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria		 OMIM
CTD
ClinVar		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More... NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141 		JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO
ISS		 DNA:missense mutations
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
OMIM:220100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO
ISS		 DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition
OMIM:220100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
Dent disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease
OMIM:300009 | OMIM:300555		 CTD
ClinVar
MouseDO		 PMID:10561751 PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease ClinVar PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
Dent disease 1 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: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:15,247,715...15,247,794
Ensembl chr  X:15,247,715...15,247,794 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
Dent disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
dicarboxylic aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a1 solute carrier family 1 member 1 ISO
ISS		 ClinVar Annotator: match by term: Dicarboxylic aminoaciduria | ClinVar Annotator: match by term: Glutamate-aspartate transport defect
OMIM:222730
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
Distal Renal Tubular Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
Distal Renal Tubular Acidosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I		 ClinVar PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
Distal Renal Tubular Acidosis 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:35738466 PMID:17409310 RGD:13208934 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar PMID:25741868 NCBI chr 4:66,825,040...66,831,070 JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia		 CTD
ClinVar		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
Distal Renal Tubular Acidosis, with Normal Red Cell Morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology ClinVar PMID:15211439 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS		 ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		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 renal glucosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition ClinVar PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:25741868 More... NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732 		JBrowse link
G Slc5a2 solute carrier family 5 member 2 ISO ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: Familial renal glycosuria | ClinVar Annotator: match by term: SLC5A2-related condition ClinVar
OMIM		 PMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 More... NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306 		JBrowse link
Familial Renal Hypouricemia due to Tubular Hypersecretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Familial renal hypouricemia ClinVar PMID:14694169 PMID:15327384 PMID:15634722 PMID:15741204 PMID:15912381 More... NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
Fanconi renotubular syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 ClinVar PMID:25741868 NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 | ClinVar Annotator: match by term: GATM-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29654216 PMID:35738466 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
Fanconi renotubular syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 2 OMIM
ClinVar		 PMID:2842681 PMID:16688119 PMID:20335586 PMID:24033266 PMID:25741868 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
Fanconi renotubular syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: EHHADH-related condition | ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 OMIM
ClinVar		 PMID:1627757 PMID:24401050 PMID:25741868 PMID:28492532 PMID:35738466 NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
Fanconi renotubular syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar		 PMID:10227563 PMID:12627330 PMID:15123688 PMID:15826954 PMID:17563455 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
Fanconi renotubular syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:27466185 PMID:28492532 NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		JBrowse link
Fanconi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9851889 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:1953713 PMID:1959923 PMID:2334430 PMID:3092644 PMID:7603529 More... NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudo-Phlorizin diabetes
ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI		 CTD
ClinVar		 PMID:3839598 PMID:6274135 PMID:7564233 PMID:7632512 PMID:8027028 More... NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO DNA:duplication:exon:g.2061_2081dup (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20335586 RGD:7242923 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISS MouseDO NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759 		JBrowse link
Gitelman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO RGD PMID:11102542 RGD:1300379 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:25741868 PMID:27545675 PMID:30887513 PMID:31236915 PMID:31670473 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:24798265 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29620724 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria ClinVar PMID:25741868 PMID:27225849 PMID:28492532 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:8640224 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO
ISS		 DNA:snp:intron:IVS9+1G>T (human)
ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia | ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria | ClinVar Annotator: match by term: SLC12A3-related condition
OMIM:263800
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8528245 PMID:8812482 PMID:8865231 PMID:8900229 PMID:8954067 More... RGD:1580588 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Stk39 serine threonine kinase 39 ISS OMIM:263800 MouseDO NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISS OMIM:263800 MouseDO NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 member 19 susceptibility ISO
ISS		 DNA:mutations
ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
OMIM:234500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... RGD:1600035 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		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
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 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: Hypomagnesemia, seizures, and intellectual disability 1 OMIM
ClinVar		 PMID:24699222 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388404 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598 		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 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
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
iminoglycinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Iminoglycinuria ClinVar PMID:19033659 NCBI chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Iminoglycinuria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Iminoglycinuria ClinVar PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 More... NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Iminoglycinuria		 CTD
ClinVar		 PMID:21572414 PMID:25741868 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
Liddle syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12185466 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348737 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO
ISS		 ClinVar Annotator: match by term: Pseudoaldosteronism
OMIM:177200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18398334 More... RGD:737753 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO DNA:nonsense mutation:exon:p.W574X (human) RGD PMID:7550319 RGD:737754 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Liddle Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Liddle syndrome 1 OMIM
ClinVar		 PMID:7777572 PMID:7954808 PMID:8524790 PMID:8589714 PMID:8601645 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Liddle syndrome 1 ClinVar NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Liddle Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Liddle syndrome 2 OMIM
ClinVar		 PMID:7550319 PMID:10391210 PMID:12473862 PMID:15198480 PMID:17460608 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Liddle Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Liddle syndrome 3 OMIM
ClinVar		 PMID:1506904 PMID:10523338 PMID:21889619 PMID:23149595 PMID:24033266 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
nephrogenic syndrome of inappropriate antidiuresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis		 OMIM
CTD
ClinVar		 PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome | ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8504307 PMID:9199559 PMID:9430698 PMID:9536098 PMID:9632163 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: PROXIMAL RENAL TUBULAR ACIDOSIS-OCULAR ANOMALY SYNDROME | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545938 PMID:11274232 PMID:15085340 PMID:15471865 PMID:15713912 More... NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
pseudohypoaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial ClinVar PMID:22266938 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD 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 Klhl3 kelch-like family member 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial		 CTD
ClinVar
MouseDO		 PMID:22266938 PMID:22406640 PMID:23387299 PMID:24821705 PMID:25741868 More... NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16972228 RGD:1600927 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO PHA type I,OMIM:264350;DNA:frameshift, DNA:point mutation:exon:R508X
ClinVar Annotator: match by term: Pseudohypoaldosteronism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11752024 PMID:25741868 PMID:8589714 RGD:1624117 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO PHA type I,OMIM:264350;DNA:point mutation:exon:G37S RGD PMID:8589714 RGD:1624117 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8640238 PMID:8640238 RGD:1624147 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Stk39 serine threonine kinase 39 ISS MouseDO NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060 		JBrowse link
G Stx16 syntaxin 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:22949526 PMID:25741868 PMID:26467025 PMID:28492532 PMID:11498583 More... RGD:1580828, RGD:2298790 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISO
ISS		 ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:22949526 PMID:18547946 PMID:11498583 RGD:2298790, RGD:1580828 NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829 		JBrowse link
Pseudohypoaldosteronism Type IB1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive OMIM
ClinVar		 PMID:1506904 PMID:10403853 PMID:10510337 PMID:10523338 PMID:10586178 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:8589714 PMID:9118951 PMID:9576123 PMID:9674649 PMID:10523338 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:10391210 PMID:12473862 PMID:15198480 PMID:17460608 PMID:17560176 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
Pseudohypoaldosteronism Type IB2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive OMIM
ClinVar		 PMID:8589714 PMID:9118951 PMID:12107247 PMID:15853823 PMID:21504729 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive ClinVar
OMIM		 PMID:8640238 PMID:11231969 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Pseudohypoaldosteronism, Type IIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:22266938 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:22266938 PMID:22406640 PMID:23387299 PMID:24821705 PMID:25741868 More... NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829 		JBrowse link
Pseudohypoaldosteronism, Type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:718348 PMID:9171836 PMID:11498583 PMID:12107233 PMID:15110905 More... NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829 		JBrowse link
Pseudohypoaldosteronism, Type IIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10869238 PMID:11498583 PMID:16199547 PMID:17344846 PMID:18580052 More... NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
Pseudohypoaldosteronism, Type IID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION | ClinVar Annotator: match by term: KLHL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22266938 PMID:22406640 PMID:23387299 More... NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
Pseudohypoaldosteronism, Type IIE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: CUL3-related disorder | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E OMIM
ClinVar		 PMID:22266938 PMID:25741868 PMID:28492532 PMID:29361671 PMID:32341456 More... NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
Renal Aminoacidurias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Aminoaciduria ClinVar NCBI chr  X:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349 		JBrowse link
renal glycosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpf heterogeneous nuclear ribonucleoprotein F ISS OMIM:233100 MouseDO NCBI chr 4:151,083,262...151,104,464
Ensembl chr 4:151,083,062...151,109,038 		JBrowse link
G Slc5a2 solute carrier family 5 member 2 ISO DNA:frameshift mutation, missense mutation:cds:p.Q167fsX186, p.N654S (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.W440X (human)		 CTD
RGD		 PMID:14614622 PMID:14614622 PMID:12436245 RGD:1599049, RGD:737731 NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306 		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 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: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 ClinVar Annotator: match by term: Renal hypomagnesemia 6 OMIM
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
Renal Hypouricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia | ClinVar Annotator: match by term: Renal hypouricemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12024214 PMID:14655203 PMID:14694169 PMID:15054642 PMID:15327384 More... NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dalmatian hypouricemia		 CTD
ClinVar		 PMID:18989453 PMID:22132990 NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
Renal Hypouricemia, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: SLC2A9-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18701466 PMID:19026395 PMID:19189137 PMID:19926891 PMID:21256783 More... NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Distal renal tubular acidosis
OMIM:179830 | OMIM:267200 | OMIM:602722		 ClinVar
MouseDO
RGD		 PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 PMID:10973252 RGD:1599383 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 susceptibility ISO ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis ClinVar
RGD		 PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... RGD:1599372 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028 		JBrowse link
G Ctsb cathepsin B IEP protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:16495212 RGD:4891416 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
ISS
IEP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis
OMIM:179830 | OMIM:267200 | OMIM:602722
mRNA,protein:increased expression:kidney:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A858D (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:10450480, RGD:13208945, RGD:10450481 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 susceptibility ISO
ISS		 DNA:point mutations: ; 1043A>C, 1678G>A
OMIM:179830 | OMIM:267200 | OMIM:602722
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:18614622 PMID:10545938 RGD:61794 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		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 Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		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 nephrolithiasis type I 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: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9602200 PMID:9734595 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		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 19099
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        inherited metabolic disorder 6605
          renal tubular transport disease 110
            Bartter disease + 9
            Dent disease + 6
            Donnai-Barrow syndrome 2
            Familial Azotemia 0
            Familial Hypophosphatemia + 13
            Familial Renal Hypouricemia due to Tubular Hypersecretion 1
            Fanconi syndrome + 13
            Gitelman syndrome 13
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 2
            Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
            Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
            Liddle syndrome + 4
            Renal Aminoacidurias + 11
            Renal Hypouricemia 2
            Renal Hypouricemia, 2 1
            X-linked nephrolithiasis type I 1
            hypophosphatemic nephrolithiasis/osteoporosis 2 1
            iminoglycinuria 4
            nephrogenic syndrome of inappropriate antidiuresis 1
            oculocerebrorenal syndrome + 12
            pseudohypoaldosteronism + 14
            renal glycosuria + 4
            renal hypomagnesemia 2 2
            renal hypomagnesemia 4 2
            renal hypomagnesemia 5 with ocular involvement 3
            renal hypomagnesemia 6 1
            renal hypomagnesemia 7, with or without dilated cardiomyopathy 1
            renal tubular acidosis + 12
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          kidney disease 2579
            renal tubular transport disease 110
              Bartter disease + 9
              Dent disease + 6
              Donnai-Barrow syndrome 2
              Familial Azotemia 0
              Familial Hypophosphatemia + 13
              Familial Renal Hypouricemia due to Tubular Hypersecretion 1
              Fanconi syndrome + 13
              Gitelman syndrome 13
              HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 2
              Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Liddle syndrome + 4
              Renal Aminoacidurias + 11
              Renal Hypouricemia 2
              Renal Hypouricemia, 2 1
              X-linked nephrolithiasis type I 1
              hypophosphatemic nephrolithiasis/osteoporosis 2 1
              iminoglycinuria 4
              nephrogenic syndrome of inappropriate antidiuresis 1
              oculocerebrorenal syndrome + 12
              pseudohypoaldosteronism + 14
              renal glycosuria + 4
              renal hypomagnesemia 2 2
              renal hypomagnesemia 4 2
              renal hypomagnesemia 5 with ocular involvement 3
              renal hypomagnesemia 6 1
              renal hypomagnesemia 7, with or without dilated cardiomyopathy 1
              renal tubular acidosis + 12
paths to the root