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
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Pcp4
Purkinje cell protein 4
IEP
RGD
PMID:11003989
RGD:9850274
NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725
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Amelx
amelogenin, X-linked
IEP
RGD
PMID:15721149
RGD:1599092
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Bglap
bone gamma-carboxyglutamate protein
IEP
RGD
PMID:2106357
RGD:6483581
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Casr
calcium-sensing receptor
ISO
DNA:missense mutation:cds:p.E128A (human) ClinVar Annotator: match by term: Autosomal dominant hypocalcemia DNA:missense mutation:cds:p.T151M (human) DNA:missense mutation:cds:p.L723Q (mouse) DNA:missense mutations:cds:multiple (human)
ClinVar RGD
PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 PMID:14519094 PMID:17039419 PMID:17698911 PMID:19179454 PMID:20119591 PMID:20668040 PMID:21645025 PMID:22422767 PMID:22789683 PMID:22798347 PMID:24133354 PMID:24297799 PMID:24823460 PMID:24948345 PMID:25137426 PMID:25420019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:29846619 PMID:30470382 PMID:30496603 PMID:34913197 PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 More...
RGD:1598940 , RGD:7205656 , RGD:7205497 , RGD:7204717
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
RGD
PMID:11416220
RGD:734871
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Pth
parathyroid hormone
IEP
protein:increased expression:serum (rat)
RGD
PMID:22581996
RGD:7242904
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Casr
calcium-sensing receptor
ISS ISO
OMIM:601198 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL
MouseDO OMIM ClinVar
PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9253358 PMID:9380434 PMID:9422777 PMID:9536098 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11089548 PMID:11102444 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:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12297503 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12890593 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16128246 PMID:16333828 PMID:16497624 PMID:16608894 PMID:16649980 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20495831 PMID:20501971 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23186954 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24517148 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:32306059 PMID:32347971 PMID:32386559 PMID:32430905 PMID:33112267 PMID:34008892 PMID:34088669 PMID:34913197 PMID:35242665 PMID:35300448 PMID:35402765 PMID:35818129 PMID:36090548 PMID:36135330 PMID:37654565 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gna11
G protein subunit alpha 11
ISO ISS
OMIM:615361 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2
OMIM MouseDO ClinVar
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 PMID:26994139 PMID:28194446 PMID:28492532 More...
NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD ClinVar
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:24297799 PMID:25506941 PMID:25741868 PMID:25967373 PMID:28492532 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar
PMID:25741868
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Avp
arginine vasopressin
IEP ISO
mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus CTD Direct Evidence: therapeutic
CTD RGD
PMID:2554359 PMID:17393298
RGD:2304139
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Dmd
dystrophin
IEP
protein:decreased expression:neurohypophysial lobe:
RGD
PMID:9858364
RGD:12880360
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Hap1
huntingtin-associated protein 1
ISO
RGD
PMID:11971876
RGD:1302538
NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:16052497
RGD:13825136
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Npy1r
neuropeptide Y receptor Y1
IEP
protein:increased expression:hypothalamus
RGD
PMID:16728491
RGD:1642311
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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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 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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P2ry2
purinergic receptor P2Y2
IEP
mRNA, protein:decreased expression:inner renal medulla
RGD
PMID:15687250
RGD:2316687
NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
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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 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
IEP
RGD
PMID:17412804
RGD:1642352
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:brain:
RGD
PMID:17412804
RGD:1642352
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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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 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 PMID:2983592 PMID:3237971 PMID:3966479 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9380434 PMID:9395465 PMID:9422777 PMID:9507434 PMID:9536098 PMID:9661634 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11089548 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889154 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12297503 PMID:12469911 PMID:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15551332 PMID:15572418 PMID:15579740 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:15963484 PMID:16128246 PMID:16147994 PMID:16199547 PMID:16333828 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17121537 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:17803689 PMID:17974727 PMID:17979873 PMID:18219222 PMID:18296474 PMID:18328986 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:18938753 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19549694 PMID:19694204 PMID:19759318 PMID:19763152 PMID:19779033 PMID:19789209 PMID:19953642 PMID:20034274 PMID:20119591 PMID:20164288 PMID:20307669 PMID:20335782 PMID:20335783 PMID:20374733 PMID:20495831 PMID:20501971 PMID:20602573 PMID:20668040 PMID:20697181 PMID:20798521 PMID:20972686 PMID:21135065 PMID:21175100 PMID:21185797 PMID:21239511 PMID:21289269 PMID:21310873 PMID:21369680 PMID:21414629 PMID:21441391 PMID:21471599 PMID:21521328 PMID:21645025 PMID:21844754 PMID:22024717 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22620673 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23081733 PMID:23169696 PMID:23186954 PMID:23372019 PMID:23764372 PMID:23856262 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24394414 PMID:24517148 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25039540 PMID:25045523 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25320261 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 PMID:25766501 PMID:25792032 PMID:25828954 PMID:25967373 PMID:25977473 PMID:25985138 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27390877 PMID:27418061 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:28870973 PMID:29026550 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31063613 PMID:31189130 PMID:31328266 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:31967040 PMID:32150253 PMID:32160303 PMID:32306059 PMID:32347971 PMID:32375028 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32593617 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32871939 PMID:32892159 PMID:33094630 PMID:33112267 PMID:33147586 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35586626 PMID:35733207 PMID:35818129 PMID:36090548 PMID:36135330 PMID:37654565 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Csta
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
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Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
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Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Ocrl
OCRL, inositol polyphosphate-5-phosphatase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 PMID:25480730 PMID:25741868 PMID:26694549 PMID:28492532 PMID:34586410 PMID:35006361 More...
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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Osbpl11
oxysterol binding protein-like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
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Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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Pdia5
protein disulfide isomerase family A, member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
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Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
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Slc12a8
solute carrier family 12, member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Casr
calcium-sensing receptor
ISO ISS
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 OMIM:145980 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
OMIM ClinVar MouseDO CTD RGD
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 PMID:3237971 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 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:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16147994 PMID:16199547 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16740594 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:17979873 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:18938753 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20290361 PMID:20495831 PMID:20602573 PMID:20668040 PMID:20798521 PMID:20972686 PMID:21239511 PMID:21289269 PMID:21310873 PMID:21369680 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23372019 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25792032 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29026550 PMID:29846619 PMID:29848507 PMID:30407919 PMID:30544257 PMID:30895164 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32892159 PMID:33112267 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34993031 PMID:35300448 PMID:35318962 PMID:35733207 PMID:36090548 PMID:36135330 PMID:38214877 PMID:38586466 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gna11
G protein subunit alpha 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:27913609 PMID:28492532 PMID:29325022 PMID:29420171 PMID:31723423 More...
NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
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Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: HELIX syndrome
OMIM ClinVar
PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008
NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
ClinVar CTD RGD
PMID:8675635 PMID:8878438 PMID:9011580 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 PMID:12671052 PMID:20602573 More...
RGD:734698 , RGD:7205445
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Pth
parathyroid hormone
IDA ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pth1r
parathyroid hormone 1 receptor
IDA
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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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 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
OMIM ClinVar
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 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:26787776 PMID:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532 PMID:31194111 PMID:32375123 PMID:33099630 PMID:33952337 PMID:34307984 PMID:34662328 PMID:34858904 PMID:35956396 PMID:36703897 PMID:37701149 More...
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 PMID:21597970 PMID:24033266 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26787776 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Hyperkalemia
ClinVar
PMID:25741868
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645707
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:8606734 PMID:20466255
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6279499 PMID:10100081
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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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:25741868 PMID:28492532
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701698 PMID:11770836
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Tbx1
T-box transcription factor 1
ISO
DNA:frameshift mutation:CDS:p.G387AfsX73 (human)
RGD
PMID:32110744
RGD:155641234
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1848636 PMID:2826064 PMID:17292646
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Agt
angiotensinogen
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7182184
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akr1b1
aldo-keto reductase family 1 member B1
IEP
RGD
PMID:17409277
RGD:1626084
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Atp12a
ATPase H+/K+ transporting non-gastric alpha2 subunit
IEP
RGD
PMID:9729517
RGD:13838663
NCBI chr15:30,443,571...30,468,229
Ensembl chr15:30,443,571...30,468,229
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Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: Hypokalemia
ClinVar
PMID:25741868
NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:496411
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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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 chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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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 More...
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Rhcg
Rh family, C glycoprotein
IEP
protein:increased expression:outer medulla of kidney
RGD
PMID:21753075
RGD:9850155
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
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Slc12a3
solute carrier family 12 member 3
ISO
ClinVar Annotator: match by term: Hypokalemia
ClinVar
PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:25741868 PMID:26467025 PMID:26921350 PMID:28492532 PMID:35591852 More...
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2563217
NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
ISO
ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness
ClinVar OMIM
PMID:33811157
NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:6920297 PMID:12590641
RGD:1579880
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Nppb
natriuretic peptide B
ISO
associated with Brain Injuries
RGD
PMID:21808206
RGD:5685651
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3923190 PMID:6407273 PMID:19397503
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Ren
renin
IEP
protein: increased activity:blood plasma (rat)
RGD
PMID:25841323
RGD:125097503
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:19666518
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:112579 PMID:6920297
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile hypercalcemia
CTD ClinVar
PMID:25741868
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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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 PMID:25741868
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Trpm6
transient receptor potential cation channel, subfamily M, member 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
OMIM CTD ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24030239 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532 PMID:33565749 PMID:34906502 More...
NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
ClinVar
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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Fam111a
FAM111 trypsin like peptidase A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
OMIM CTD ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis
OMIM CTD ClinVar
PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 PMID:8999963 PMID:9452109 PMID:9711877 PMID:10820168 PMID:11095010 PMID:11134505 PMID:11232028 PMID:11754100 PMID:11916004 PMID:11920339 PMID:15166253 PMID:15872203 PMID:16319185 PMID:16580609 PMID:16825342 PMID:16843086 PMID:16845277 PMID:17229917 PMID:19179480 PMID:20159941 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27117808 PMID:27355191 PMID:28492532 PMID:29398133 PMID:29546600 PMID:33996673 More...
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Abcb6
ATP binding cassette subfamily B member 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak
OMIM CTD ClinVar
PMID:2766660 PMID:2998465 PMID:6123793 PMID:11918557 PMID:15142123 PMID:23180570 PMID:24947683 PMID:25741868 PMID:27151991 PMID:28492532 More...
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryohydrocytosis | ClinVar Annotator: match by term: Stomatocytosis, cold-sensitive
CTD ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 PMID:7689982 PMID:7831176 PMID:7919393 PMID:7949112 PMID:8434259 PMID:8471774 PMID:8704215 PMID:8943874 PMID:9207478 PMID:9312167 PMID:9600966 PMID:9854053 PMID:10050708 PMID:10403343 PMID:10554820 PMID:10926824 PMID:10942416 PMID:11380459 PMID:11442486 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:15142123 PMID:16107207 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17554061 PMID:18266205 PMID:19229254 PMID:19289107 PMID:19625994 PMID:19907019 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:21039340 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:24652967 PMID:25741868 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29627839 PMID:30192042 PMID:30230413 PMID:31147440 PMID:31672324 PMID:31959358 PMID:32071839 PMID:33532864 PMID:34746046 PMID:35738466 More...
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO ISS
ClinVar Annotator: match by term: SHORT syndrome OMIM:269880 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 PMID:10768093 PMID:11135494 PMID:12514365 PMID:16199547 PMID:17576681 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24459181 PMID:24728327 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26497935 PMID:26529633 PMID:26633545 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28104464 PMID:28143957 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29051493 PMID:29178053 PMID:29636477 PMID:29740032 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 More...
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Akap5
A-kinase anchoring protein 5
IEP
mRNA:increased expression:dentate gyrus (rat)
RGD
PMID:12542670
RGD:2313247
NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
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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 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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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 More...
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Uts2
urotensin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16160878
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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