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: Water-Electrolyte Imbalance
Accession: DOID:9004004
browse the term
Definition: Disturbances in the body's WATER-ELECTROLYTE BALANCE.
Synonyms: exact_synonym: Water-Electrolyte Imbalances
primary_id: MESH:D014883 ; RDO:0005318
For additional species annotation, visit the
Alliance of Genome Resources .
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Pcp4
Purkinje cell protein 4
IEP
RGD
PMID:11003989
RGD:9850274
NCBI chr11:36,851,035...36,912,272
Ensembl chr11:36,851,038...36,912,229
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Amelx
amelogenin, X-linked
IEP
RGD
PMID:15721149
RGD:1599092
NCBI chr X:26,439,197...26,450,495
Ensembl chr X:26,439,197...26,450,495
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Bglap
bone gamma-carboxyglutamate protein
IEP
RGD
PMID:2106357
RGD:6483581
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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Casr
calcium-sensing receptor
ISO
DNA:missense mutation:cds:p.E128A (human) DNA:missense mutation:cds:p.T151M (human) DNA:missense mutation:cds:p.L723Q (mouse) DNA:missense mutations:cds:multiple (human)
RGD
PMID:7874174 , PMID:20501971 , PMID:15347804 , PMID:8813042
RGD:1598940 , RGD:7205656 , RGD:7205497 , RGD:7204717
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
RGD
PMID:11416220
RGD:734871
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Pth
parathyroid hormone
IEP
protein:increased expression:serum (rat)
RGD
PMID:22581996
RGD:7242904
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by OMIM:601198 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1 ClinVar Annotator: match by term: HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
ClinVar OMIM
PMID:1706284 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:9253358 PMID:9422777 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10912749 PMID:10912782 PMID:11102444 PMID:11134112 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14997007 PMID:15531522 PMID:15598778 PMID:15864123 PMID:15879434 PMID:16497624 PMID:16608894 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18756473 PMID:19389809 PMID:19694204 PMID:20119591 PMID:20164288 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:23077345 PMID:24033266 PMID:24133354 PMID:24297799 PMID:24823460 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26166472 PMID:26467025 PMID:26646938 PMID:27157104 PMID:27957351 PMID:28492532 PMID:29846619
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 2 ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:6278146 PMID:23802536 PMID:24823460
NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
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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 PMID:17048213 PMID:25741868
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar Annotator: match by OMIM:194380
OMIM ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:28716860 PMID:29576450
NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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Avp
arginine vasopressin
IEP ISO
mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus CTD Direct Evidence: therapeutic
CTD
PMID:2554359 , PMID:17393298
RGD:2304139
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Dmd
dystrophin
IEP
protein:decreased expression:neurohypophysial lobe:
RGD
PMID:9858364
RGD:12880360
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
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Hap1
huntingtin-associated protein 1
ISO
RGD
PMID:11971876
RGD:1302538
NCBI chr10:88,257,975...88,266,210
Ensembl chr10:88,257,976...88,266,210
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:16052497
RGD:13825136
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Npy1r
neuropeptide Y receptor Y1
IEP
protein:increased expression:hypothalamus
RGD
PMID:16728491
RGD:1642311
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
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Oxt
oxytocin/neurophysin I prepropeptide
IEP
mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus
RGD
PMID:17393298
RGD:2304139
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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P2ry2
purinergic receptor P2Y2
IEP
mRNA, protein:decreased expression:inner renal medulla
RGD
PMID:15687250
RGD:2316687
NCBI chr 1:166,031,228...166,045,423
Ensembl chr 1:166,031,272...166,037,424
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Pcsk1
proprotein convertase subtilisin/kexin type 1
IEP
associated with Protein-Energy Malnutrition; protein:increased expression:pituitary (rat)
RGD
PMID:12411741
RGD:2308904
NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
IEP
RGD
PMID:17412804
RGD:1642352
NCBI chr X:15,324,263...15,327,705
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:brain:
RGD
PMID:17412804
RGD:1642352
NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
IEP
mRNA, protein:increased expression:supraoptic nucleus, pituitary
RGD
PMID:17927670
RGD:9587478
NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:791660 PMID:1302026 PMID:1889203 PMID:7054696 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8733126 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10077597 PMID:10468915 PMID:10488104 PMID:10843194 PMID:10885494 PMID:10912782 PMID:10971459 PMID:11102444 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12095982 PMID:12114500 PMID:12580936 PMID:12890593 PMID:14714270 PMID:15551332 PMID:15572418 PMID:15591042 PMID:15751724 PMID:15879434 PMID:15963484 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17284438 PMID:17320849 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:18219222 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:19073830 PMID:19179454 PMID:19389809 PMID:19759318 PMID:19763152 PMID:20034274 PMID:20164288 PMID:20307669 PMID:20374733 PMID:20798521 PMID:20972686 PMID:21175100 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23265383 PMID:23372019 PMID:23764372 PMID:23966241 PMID:24133354 PMID:24203066 PMID:24394414 PMID:24735972 PMID:24763815 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25292184 PMID:25741868 PMID:25765207 PMID:25828954 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29026550 PMID:29846619 PMID:30019023 PMID:30052933 PMID:30407919 PMID:31672324 PMID:32347971
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1 ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:145980 ClinVar Annotator: match by null DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
ClinVar CTD OMIM
PMID:791660 PMID:1302026 PMID:1706284 PMID:2211966 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8878438 PMID:9011580 PMID:9109436 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10843194 PMID:10912749 PMID:10912782 PMID:11102444 PMID:11134112 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11733622 PMID:11762699 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12095982 PMID:12114500 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14997007 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15598778 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18887540 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19953642 PMID:20164288 PMID:20290361 PMID:20602573 PMID:20798521 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22798347 PMID:23077345 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:25091521 PMID:25292184 PMID:25705702 PMID:25741868 PMID:25766501 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27434672 PMID:27666534 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:30407919 , PMID:7493018 , PMID:21034470 , PMID:7726161 , PMID:7916660
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type II
OMIM ClinVar
NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
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Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type III CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1524075 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:27913609 PMID:28492532 PMID:29325022 PMID:29420171
NCBI chr 1:78,671,238...78,682,847
Ensembl chr 1:78,671,121...78,682,871
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Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: HELIX SYNDROME
ClinVar OMIM
PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008
NCBI chr15:104,026,590...104,115,748
Ensembl chr15:104,026,601...104,115,748
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
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Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
CTD
PMID:9011580 , PMID:12671052 , PMID:20602573
RGD:734698 , RGD:7205445
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Pth
parathyroid hormone
IDA ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
CTD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 , PMID:23261531
RGD:7242689
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Pth1r
parathyroid hormone 1 receptor
IDA
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr 4:181,663,425...181,674,181
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
ClinVar OMIM
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 PMID:22112808 PMID:23001465 PMID:23293122 PMID:23423976 PMID:23470222 PMID:23485543 PMID:24033266 PMID:24518185 PMID:25194629 PMID:25375986 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:26214117 PMID:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy
ClinVar
PMID:24033266
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
ClinVar OMIM
PMID:20466674 PMID:25741868 PMID:26047794 PMID:26787776 PMID:28492532 PMID:28893421
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Hyperkalemia
ClinVar
PMID:25741868
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Hyperkalemia
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645707
NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:8606734 PMID:20466255
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6279499 PMID:10100081
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia
CTD ClinVar
PMID:7874174 PMID:11701698 PMID:28492532
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701698 PMID:11770836
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1848636 PMID:2826064 PMID:17292646
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Agt
angiotensinogen
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7182184
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Akr1b1
aldo-keto reductase family 1 member B
IEP
RGD
PMID:17409277
RGD:1626084
NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
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Atp12a
ATPase H+/K+ transporting non-gastric alpha2 subunit
IEP
RGD
PMID:9729517
RGD:13838663
NCBI chr15:36,561,306...36,590,171
Ensembl chr15:36,565,495...36,590,171
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Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: Hypokalemia
ClinVar
PMID:25741868
NCBI chr15:104,026,590...104,115,748
Ensembl chr15:104,026,601...104,115,748
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:496411
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat)
RGD
PMID:28931751
RGD:38500204
NCBI chr10:99,330,894...99,391,551
Ensembl chr10:99,388,130...99,389,898
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Kcnj16em1Mcwi
potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:28931751
RGD:38500204
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20339970
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 PMID:6279499 PMID:8035395 PMID:8562174 PMID:10100081
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Rhcg
Rh family, C glycoprotein
IEP
protein:increased expression:outer medulla of kidney
RGD
PMID:21753075
RGD:9850155
NCBI chr 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2563217
NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6920297 , PMID:12590641
RGD:1579880
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Nppb
natriuretic peptide B
ISO
associated with Brain Injuries
RGD
PMID:21808206
RGD:5685651
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3923190 PMID:6407273 PMID:19397503
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sodium serum level quantitative trait locus 1
CTD ClinVar OMIM
PMID:4056805 PMID:8179305 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22702953 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:112579 PMID:6920297
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Trpm6
transient receptor potential cation channel, subfamily M, member 6
ISO
ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar Annotator: match by OMIM:602014 ClinVar Annotator: match by null
OMIM ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532
NCBI chr 1:234,478,908...234,631,264
Ensembl chr 1:234,479,289...234,596,971
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal
ClinVar
NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
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Fam111a
FAM111 trypsin like peptidase A
ISO
ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2 ClinVar Annotator: match by OMIM:127000
OMIM ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:29073591 PMID:32996714
NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis ClinVar Annotator: match by OMIM:300539
OMIM ClinVar
PMID:25741868
NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak
OMIM ClinVar
PMID:2766660 PMID:2998465 PMID:11918557 PMID:15142123 PMID:23180570 PMID:24947683
NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Pseudohyperkalemia Cardiff ClinVar Annotator: match by term: Cryohydrocytosis
ClinVar OMIM
PMID:7831176 PMID:8471774 PMID:9312167 PMID:10050708 PMID:10554820 PMID:11442486 PMID:15142123 PMID:16227998 PMID:21039340 PMID:25741868
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome ClinVar Annotator: match by OMIM:269880
OMIM ClinVar
PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26633545 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27693481 PMID:27766312 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29740032
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
ClinVar OMIM
PMID:10980529 PMID:11477212 PMID:12325075 PMID:15180870 PMID:16949238 PMID:17052934 PMID:18606970 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21791420 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26216499 PMID:26537434 PMID:26598494 PMID:28116237 PMID:28492532
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Akap5
A-kinase anchoring protein 5
IEP
mRNA:increased expression:dentate gyrus (rat)
RGD
PMID:12542670
RGD:2313247
NCBI chr 6:99,356,509...99,361,909
Ensembl chr 6:99,356,509...99,361,909
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Cnnm2
cyclin and CBS domain divalent metal cation transport mediator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23027747
NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:292422 PMID:803783 PMID:3923190 PMID:4988877 PMID:5067144 PMID:5493616 PMID:5528113 PMID:7360068
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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Uts2
urotensin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16160878
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
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