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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;   Renal Tubular Transport, Inborn Error;   Renal Tubular Transport, Inborn Errors;   inborn renal tubular transport disorder
 primary_id: MESH:D015499
 alt_id: RDO:0001805
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...12,424,896
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:15,185,353...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 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 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 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
OMIM
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:30311385 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: Pseudohypoaldosteronism, Type I, Dominant ClinVar 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 ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar
OMIM
PMID:9662404 PMID:11134129 PMID:11344206 PMID:12483305 PMID:12679457 More... RGD:1600930 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar 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
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
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 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
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 Annotator: match by term: Pseudohypoaldosteronism type 1 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 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:1506904 PMID:8589714 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 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
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 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
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
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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 PMID:11687798 PMID:16583241 PMID:16773427 PMID:17954364 PMID:18776122 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 CTD Direct Evidence: marker/mechanism CTD PMID:10561751 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
CTD
ClinVar
PMID:10561751 PMID:12911542 PMID:16982955 PMID:22275899 PMID:25741868 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
CTD Direct Evidence: marker/mechanism
CTD PMID:10561751 PMID:8640224 RGD:1624188 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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 ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
ClinVar Annotator: match by OMIM:601678
OMIM
ClinVar
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 ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
ClinVar Annotator: match by OMIM:241200
OMIM
ClinVar
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9580661 PMID:9727001 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 Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome 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 ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar Annotator: match by OMIM:607364
OMIM
ClinVar
PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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 ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 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 ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b
ClinVar
OMIM
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 4b OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 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 syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 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 null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:25741868 PMID:26920127 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 ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria
ClinVar Annotator: match by OMIM:612018
OMIM
ClinVar
PMID:17458810 PMID:18304496 PMID:21778275 PMID:25741868 PMID:26376857 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 null
ClinVar Annotator: match by term: Cystinuria
ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 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 DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
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 DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dent's disease
ClinVar Annotator: match by term: Dent Disease
CTD
ClinVar
PMID:10561751 PMID:15719255 PMID:15814539 PMID:20804101 PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISS OMIM:300009 | OMIM:300555 MouseDO 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 2
ClinVar Annotator: match by term: Dent disease 1
ClinVar Annotator: match by OMIM:300009
OMIM
ClinVar
PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Dent disease 1 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: Dent disease 1 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: Dent disease 1 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 OMIM
ClinVar
PMID:1321346 PMID:15627218 PMID:16381338 PMID:17162149 PMID:17384968 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 ClinVar Annotator: match by term: Dicarboxylic aminoaciduria
ClinVar Annotator: match by term: Dicarboxylicaminoaciduria
OMIM
ClinVar
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
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria ClinVar PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,630,470...226,682,979
Ensembl chr 1:226,641,518...226,682,884
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: RENAL TUBULAR ACIDOSIS, DISTAL, 1
ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I
ClinVar
OMIM
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, distal, with progressive deafness
ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar Annotator: match by OMIM:267300
ClinVar
OMIM
PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16611712 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: Renal tubular acidosis, autosomal recessive with preserved hearing
ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD 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: Distal Renal Tubular Acidosis, Recessive ClinVar NCBI chr 4:66,824,958...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 Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
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, with hemolytic anemia ClinVar 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 null 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 ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 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 4:159,914,393...159,922,073
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:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Phex phosphate regulating endopeptidase homolog, 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:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 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: 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 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: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 ClinVar Annotator: match by term: Familial renal hypouricemia ClinVar NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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 OMIM
ClinVar
PMID:25741868 PMID:29654216 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:20335586 PMID:25741868 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: Fanconi renotubular syndrome 3 OMIM
ClinVar
PMID:1627757 PMID:24401050 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: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212 PMID:22802087 PMID:24285859 PMID:25741868 PMID:25819479 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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:27466185 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 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 Fan1 FANCD2 and FANCI associated nuclease 1 ISO Fanconi syndrome OMIA PMID:438041 PMID:619225 PMID:684432 PMID:1270337 PMID:1542263 More... NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
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: Glycogen storage disease XI ClinVar PMID:1953713 PMID:1959923 PMID:2334430 PMID:3092644 PMID:8327147 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 ClinVar Annotator: match by term: Fanconi-Bickel syndrome
ClinVar Annotator: match by OMIM:227810
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3839598 PMID:6274135 PMID:7564233 PMID:7632512 PMID:8362811 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 PMID:20335586 RGD:7242923 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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 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 DNA:snp:intron:IVS9+1G>T (human)
ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia
ClinVar Annotator: match by OMIM:263800
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8528245 PMID:8812482 PMID:8865231 PMID:8900229 PMID:8954067 More... RGD:1580588 NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
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 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 ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 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 DNA:mutations
ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
ClinVar Annotator: match by term: Hartnup disease
ClinVar Annotator: match by OMIM:234500
ClinVar
OMIM
PMID:15286787 PMID:15286788 PMID:17555458 PMID:18484095 PMID:19185582 More... RGD:1600035 NCBI chr 1:29,586,205...29,604,960
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 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: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by OMIM:241530
OMIM
ClinVar
PMID:2983203 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
JBrowse link
Hypomagnesemia, Seizures, and Mental Retardation 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 mental retardation 1 OMIM
ClinVar
PMID:24699222 PMID:25741868 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
Hypomagnesemia, Seizures, and Mental Retardation 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 MENTAL RETARDATION 2
ClinVar Annotator: match by term: Hypomagnesemia, seizures, and mental retardation 2
ClinVar
OMIM
PMID:25741868 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 Slc9a3r1 SLC9A3 regulator 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 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: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:9536098 PMID:17033621 PMID:17033625 PMID:17576681 PMID:21050253 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
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
PMID:8960499 PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 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 CTD Direct Evidence: marker/mechanism CTD 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 Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:19033659 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 OMIM
ClinVar
PMID:25741868 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:21572414 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 CTD Direct Evidence: marker/mechanism CTD PMID:18398334 PMID:19344079 PMID:10589691 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
ClinVar Annotator: match by term: Pseudoprimary hyperaldosteronism
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
ClinVar Annotator: match by term: Liddle syndrome 2
ClinVar
OMIM
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:25741868 PMID:28710092 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
ClinVar Annotator: match by OMIM:308990
OMIM
ClinVar
PMID:8559248 PMID:9062355 PMID:25741868 NCBI chr  X:15,185,353...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 ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis OMIM
ClinVar
PMID:9711877 PMID:11134505 PMID:15872203 PMID:24033266 PMID:25741868 More... NCBI chr  X:151,633,501...151,636,000
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 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:309000
OMIM
ClinVar
CTD
PMID:8504307 PMID:9430698 PMID:9632163 PMID:9682219 PMID:10364518 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:123,977,960...123,979,917
Ensembl chr  X:123,977,985...123,979,942
JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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
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: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
ClinVar Annotator: match by OMIM:604278
OMIM
ClinVar
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 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: HYPERTENSIVE HYPERKALEMIA, FAMILIAL, UMLS MESH term: Familial Hypertensive Hyperkalemia 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 ClinVar Annotator: match by term: HYPERTENSIVE HYPERKALEMIA, FAMILIAL, UMLS MESH term: Familial Hypertensive Hyperkalemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
ClinVar
CTD
PMID:22266938 PMID:22406640 PMID:24821705 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
PMID:16972228 RGD:1600927 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2 ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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
PMID:11752024 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
CTD Direct Evidence: marker/mechanism
CTD 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 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
ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22949526 PMID:26467025 PMID:28492532 PMID:11498583 PMID:18547946 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 ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 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:24821705 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar 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 OMIM
ClinVar
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 Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C
ClinVar Annotator: match by OMIM:614492
OMIM
ClinVar
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 OMIM:614495
OMIM
ClinVar
PMID:22266938 PMID:22406640 PMID:24033266 PMID:24821705 PMID:25741868 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: Pseudohypoaldosteronism type 2E OMIM
ClinVar
PMID:22266938 PMID:25741868 PMID:28492532 PMID:32860008 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 Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Glycosuria, Renal ClinVar PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:28492532 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 DNA:frameshift mutation, missense mutation:cds:p.Q167fsX186, p.N654S (human)
ClinVar Annotator: match by term: Glycosuria, Renal
ClinVar Annotator: match by OMIM:233100
DNA:nonsense mutation:cds:p.W440X (human)
ClinVar
OMIM
PMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 More... 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)
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant
ClinVar Annotator: match by OMIM:154020
ClinVar
OMIM
PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 PMID:11062458 RGD:1598986 NCBI chr 8:45,712,887...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: Hypomagnesemia 4, renal
ClinVar Annotator: match by term: HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
OMIM
ClinVar
PMID:16788380 PMID:17671655 PMID:18349392 PMID:21673069 PMID:22992668 More... NCBI chr 2:218,219,408...218,302,370
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: Hypomagnesemia 5, renal, 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 ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by OMIM:248190
OMIM
ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:25741868 PMID:27530400 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 NCBI chr 2:218,219,408...218,302,370
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: Hypomagnesemia 6, renal
ClinVar Annotator: match by OMIM:613882
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 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: Hereditary renal hypouricemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14655203 PMID:14694169 PMID:15327384 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
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD 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: Renal hypouricemia 2
ClinVar Annotator: match by OMIM:612076
ClinVar Annotator: match by synonym: UAQTL2
OMIM
ClinVar
PMID:18327256 PMID:18327257 PMID:18701466 PMID:19026395 PMID:19189137 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
OMIM:179830 | OMIM:267200 | OMIM:602722 MouseDO PMID:10973252 RGD:1599383 NCBI chr 4:66,760,159...66,842,110
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: Renal tubular acidosis ClinVar PMID:16611712 PMID:19364879 PMID:26571219 PMID:28188436 PMID:28492532 More... RGD:1599372 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
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
IEP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Renal tubular acidosis
mRNA,protein:increased expression:kidney:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A858D (human)
ClinVar
CTD
PMID:9312167 PMID:14734552 PMID:23460825 PMID:25741868 PMID:28492532 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 Slc4a4 solute carrier family 4 member 4 susceptibility ISO DNA:point mutations: ; 1043A>C, 1678G>A
CTD Direct Evidence: marker/mechanism
CTD PMID:18614622 PMID:10545938 RGD:61794 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 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 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 homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800
OMIM
ClinVar
PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 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: X-linked recessive nephrolithiasis with renal failure
ClinVar Annotator: match by term: Nephrolithiasis, X-linked recessive
OMIM
ClinVar
PMID:8559248 PMID:9602200 PMID:25741868 NCBI chr  X:15,185,353...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: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar
OMIM
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 More... NCBI chr  X:15,185,353...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 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        inherited metabolic disorder 2619
          renal tubular transport disease 93
            Bartter disease + 8
            Dent disease + 6
            Donnai-Barrow syndrome 2
            Familial Azotemia 0
            Familial Hypophosphatemia + 13
            Familial Renal Hypouricemia due to Tubular Hypersecretion 2
            Fanconi syndrome + 10
            Gitelman syndrome 6
            Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
            Hypomagnesemia, Seizures, and Mental Retardation + 2
            Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
            Liddle syndrome + 4
            Renal Aminoacidurias + 12
            Renal Hypouricemia 2
            Renal Hypouricemia, 2 1
            X-linked nephrolithiasis type I 1
            hypophosphatemic nephrolithiasis/osteoporosis 2 1
            iminoglycinuria 3
            nephrogenic syndrome of inappropriate antidiuresis 1
            oculocerebrorenal syndrome + 8
            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 tubular acidosis + 9
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        urinary system disease 2143
          kidney disease 1923
            renal tubular transport disease 93
              Bartter disease + 8
              Dent disease + 6
              Donnai-Barrow syndrome 2
              Familial Azotemia 0
              Familial Hypophosphatemia + 13
              Familial Renal Hypouricemia due to Tubular Hypersecretion 2
              Fanconi syndrome + 10
              Gitelman syndrome 6
              Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
              Hypomagnesemia, Seizures, and Mental Retardation + 2
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Liddle syndrome + 4
              Renal Aminoacidurias + 12
              Renal Hypouricemia 2
              Renal Hypouricemia, 2 1
              X-linked nephrolithiasis type I 1
              hypophosphatemic nephrolithiasis/osteoporosis 2 1
              iminoglycinuria 3
              nephrogenic syndrome of inappropriate antidiuresis 1
              oculocerebrorenal syndrome + 8
              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 tubular acidosis + 9
paths to the root