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.
Please select species to view GViewer data.
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Calca
calcitonin related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chrNW_004624766:6,764,388...6,771,396
Ensembl chrNW_004624766:6,766,185...6,768,173
G
S
Calca
calcitonin related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004
G
B
CALCA
calcitonin related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
G
R
Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105
G
M
Calca
calcitonin/calcitonin-related polypeptide, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
G
H
CALCA
calcitonin related polypeptide alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
G
P
CALCB
calcitonin-related polypeptide beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 2:44,043,135...44,048,651
G
N
Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chrNW_004624813:233,117...357,507
Ensembl chrNW_004624813:233,042...357,396
G
G
CALCR
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr21:55,433,438...55,585,608
Ensembl chr21:55,523,412...55,583,735
G
P
CALCR
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,879...73,403,436
G
S
Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chrNW_004936803:423,558...466,762
Ensembl chrNW_004936803:422,890...466,730
G
D
CALCR
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr14:18,923,116...19,074,904
Ensembl chr14:18,923,116...19,074,904
G
B
CALCR
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162
G
C
Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chrNW_004955432:10,310,776...10,391,029
Ensembl chrNW_004955432:10,309,263...10,391,141
G
R
Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:31,661,273...31,736,392
G
M
Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 6:3,685,678...3,764,713
Ensembl chr 6:3,685,680...3,764,714
G
H
CALCR
calcitonin receptor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730
G
N
Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656
G
G
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756
G
P
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252
G
S
Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
G
D
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
G
B
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
G
C
Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
G
R
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 chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811
G
M
Casr
calcium-sensing receptor
IMP ISO
ClinVar Annotator: match by term: Hypercalcemia DNA:missense mutations:cds:p.R990G, p.E1011Q (human) CTD Direct Evidence: marker/mechanism
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 chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
G
H
CASR
calcium sensing receptor
ISO IAGP EXP
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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
G
D
CRSP-3
calcitonin receptor-stimulating peptide 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
G
G
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
G
P
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
G
D
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
G
B
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
G
R
Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
G
M
Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065
G
H
CYP24A1
cytochrome P450 family 24 subfamily A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
G
G
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443
G
P
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
G
D
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
G
B
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
G
R
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241
G
M
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
G
H
CYP27B1
cytochrome P450 family 27 subfamily B member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
G
N
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
G
P
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
S
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chrNW_004936549:7,015,595...7,016,246
G
D
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
G
B
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 7:23,415,922...23,420,767
G
C
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chrNW_004955410:25,079,835...25,084,390
G
R
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
M
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
H
IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
N
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chrNW_004624915:95,155...110,834
G
G
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596
G
P
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
G
S
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
G
D
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
G
B
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
G
C
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215
G
R
Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080
G
M
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
G
H
KL
klotho
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
G
N
LOC101700851
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657
G
N
LOC101716773
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425
G
S
LOC101957714
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
G
S
LOC101978323
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
G
C
LOC102011841
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001
G
C
LOC102013768
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
G
G
LOC103239768
calcitonin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092
G
N
Pth
parathyroid hormone
ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871
G
G
PTH
parathyroid hormone
ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr 1:51,327,555...51,330,810
G
P
PTH
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic
CTD RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
G
S
Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic
CTD RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
G
D
PTH
parathyroid hormone
ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
G
B
PTH
parathyroid hormone
ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
G
C
Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic
CTD RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
G
R
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 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530
G
M
Pth
parathyroid hormone
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 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
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PTH
parathyroid hormone
ISO EXP
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 chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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N
Pth1r
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262
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G
PTH1R
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256
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PTH1R
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348
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Pth1r
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
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PTH1R
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794
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PTH1R
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
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Pth1r
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
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Pth1r
parathyroid hormone 1 receptor
IDA
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729
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Pth1r
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213
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H
PTH1R
parathyroid hormone 1 receptor
ISO
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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N
Pthlh
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612
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G
PTHLH
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr11:27,682,300...27,694,808
Ensembl chr11:27,682,338...27,694,898
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P
PTHLH
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
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S
Pthlh
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518
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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 chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078
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B
PTHLH
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750
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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 chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335
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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 4:181,919,400...181,930,454
Ensembl chr 4:180,188,792...180,199,847
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Pthlh
parathyroid hormone-like peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
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PTHLH
parathyroid hormone like hormone
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901
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SLC34A1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695
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SLC34A1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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SLC34A1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
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B
SLC34A1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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H
SLC34A1
solute carrier family 34 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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S
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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M
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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H
TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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Tnfrsf11b
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125
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S
Tnfrsf11b
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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B
TNFRSF11B
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
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C
Tnfrsf11b
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
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M
Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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H
TNFRSF11B
TNF receptor superfamily member 11b
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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N
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405
G
G
TNFSF11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408
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P
TNFSF11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477
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S
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252
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D
TNFSF11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645
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B
TNFSF11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr13:23,750,835...23,784,740
G
C
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705
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R
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445
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M
Tnfsf11
tumor necrosis factor (ligand) superfamily, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483
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H
TNFSF11
TNF superfamily member 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462
G
G
ADCY5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,427,711...57,589,440
G
P
ADCY5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
G
S
Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946
G
D
ADCY5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616
G
B
ADCY5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508
G
R
Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,976,861...79,123,343
Ensembl chr11:65,471,612...65,618,974
G
M
Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108
G
H
ADCY5
adenylate cyclase 5
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
G
N
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656
G
G
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756
G
P
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252
G
S
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
G
D
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
G
B
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
G
C
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
G
R
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811
G
M
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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
G
H
CASR
calcium sensing receptor
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 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:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 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:18556971 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:21566074 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:25071082 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:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 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:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
G
N
Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:2,270,467...2,316,998
Ensembl chrNW_004624912:2,269,829...2,317,154
G
G
CCDC14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:56,889,424...56,939,915
G
P
CCDC14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:136,439,015...136,502,604
Ensembl chr13:136,438,967...136,486,496
G
S
Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:1,273,984...1,331,096
Ensembl chrNW_004936725:1,273,946...1,331,109
G
D
CCDC14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:26,958,752...27,009,159
Ensembl chr33:26,959,430...27,009,436
G
B
CCDC14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,018,879...121,066,563
Ensembl chr 3:127,918,294...127,965,906
G
C
Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:23,043,001...23,095,201
Ensembl chrNW_004955427:23,042,648...23,095,151
G
R
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
G
M
Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:34,510,940...34,545,574
Ensembl chr16:34,510,986...34,545,572
G
H
CCDC14
coiled-coil domain containing 14
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408
G
N
Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
G
G
CD86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366
G
P
CD86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
S
Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,414,491...8,481,712
G
D
CD86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
G
B
CD86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
G
C
Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
G
R
Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
G
M
Cd86
CD86 antigen
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
G
H
CD86
CD86 molecule
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
G
N
Csta
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chrNW_004624912:657,771...671,304
Ensembl chrNW_004624912:657,774...671,329
G
G
CSTA
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339
G
S
Csta
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490
G
D
CSTA
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121
G
B
CSTA
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430
G
C
Csta
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chrNW_004955427:21,617,099...21,630,712
Ensembl chrNW_004955427:21,617,054...21,630,773
G
R
Csta
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr11:78,125,813...78,136,818
Ensembl chr11:64,620,483...64,631,488
G
H
CSTA
cystatin A
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969
G
M
Csta2
cystatin A family member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810
G
N
Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:871,024...880,299
Ensembl chrNW_004624912:871,584...880,626
G
G
DTX3L
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,287,331...58,298,519
Ensembl chr22:58,290,764...58,298,376
G
P
DTX3L
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,950,266...137,961,381
Ensembl chr13:137,950,272...137,961,343
G
S
Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,844,778...8,853,442
Ensembl chrNW_004936536:8,844,575...8,851,146
G
D
DTX3L
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,676,686...25,684,270
Ensembl chr33:25,677,076...25,684,175
G
B
DTX3L
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,654,019...119,664,918
Ensembl chr 3:126,558,924...126,569,807
G
C
Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,806,170...21,812,701
Ensembl chrNW_004955427:21,806,192...21,815,031
G
R
Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,320,225...78,329,837
Ensembl chr11:64,814,926...64,824,538
G
M
Dtx3l
deltex 3-like, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,746,885...35,759,397
Ensembl chr16:35,746,881...35,759,521
G
H
DTX3L
deltex E3 ubiquitin ligase 3L
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,564,338...122,575,203
Ensembl chr 3:122,564,338...122,575,203
G
N
Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553
G
G
EAF2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,966,640...59,025,158
Ensembl chr22:58,974,409...59,025,143
G
P
EAF2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,632,541...138,681,607
Ensembl chr13:138,648,270...138,681,613
G
S
Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,213,794...8,257,595
Ensembl chrNW_004936536:8,213,763...8,258,201
G
D
EAF2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,113,348...25,147,064
Ensembl chr33:25,112,570...25,146,692
G
B
EAF2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416
G
C
Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,171,900...21,204,138
Ensembl chrNW_004955427:21,172,009...21,204,051
G
R
Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:77,465,585...77,509,993
Ensembl chr11:63,960,200...64,004,610
G
M
Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:36,613,246...36,695,275
Ensembl chr16:36,613,246...36,695,365
G
H
EAF2
ELL associated factor 2
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,835,209...121,886,526
Ensembl chr 3:121,835,183...121,886,526
G
N
Fam162a
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:739,804...763,149
Ensembl chrNW_004624912:739,917...762,939
G
G
FAM162A
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,451,115...58,476,960
Ensembl chr22:58,449,189...58,476,959
G
P
FAM162A
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,115,499...138,151,828
Ensembl chr13:138,115,509...138,151,738
G
S
Fam162a
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,697,631...8,725,667
Ensembl chrNW_004936536:8,697,595...8,730,329
G
D
FAM162A
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,525,408...25,552,272
Ensembl chr33:25,525,411...25,552,256
G
B
FAM162A
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,474,737...119,500,668
Ensembl chr 3:126,380,525...126,406,366
G
C
Fam162a
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,668,180...21,695,004
Ensembl chrNW_004955427:21,667,922...21,694,844
G
R
Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,186,260...78,215,186
Ensembl chr11:64,680,323...64,711,239
G
M
Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,864,214...35,891,931
Ensembl chr16:35,864,131...35,891,964
G
H
FAM162A
family with sequence similarity 162 member A
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,384,182...122,412,334
Ensembl chr 3:122,384,161...122,412,334
G
N
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624930:1,043,643...1,054,216
Ensembl chrNW_004624930:1,043,036...1,054,216
G
G
GRHPR
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:43,157,323...43,171,546
Ensembl chr12:43,156,840...43,171,532
G
P
GRHPR
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382
G
S
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
G
D
GRHPR
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693
G
B
GRHPR
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478
G
C
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
G
R
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:59,234,192...59,243,603
G
M
Grhpr
glyoxylate reductase/hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734
G
H
GRHPR
glyoxylate and hydroxypyruvate reductase
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990
G
N
Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,814,906...1,916,584
Ensembl chrNW_004624912:1,814,906...1,917,009
G
G
HACD2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,285,948...57,379,894
Ensembl chr22:57,322,657...57,381,683
G
P
HACD2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:136,834,103...136,933,564
Ensembl chr13:136,834,115...136,933,549
G
S
Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:1,614,637...1,705,111
Ensembl chrNW_004936725:1,614,622...1,705,132
G
D
HACD2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:26,530,221...26,643,477
Ensembl chr33:26,533,114...26,637,035
G
B
HACD2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:120,588,195...120,684,177
G
C
Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:22,642,509...22,733,170
Ensembl chrNW_004955427:22,642,478...22,734,271
G
R
Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:79,175,470...79,268,975
Ensembl chr11:65,670,281...65,762,889
G
M
Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547
G
H
HACD2
3-hydroxyacyl-CoA dehydratase 2
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053
G
N
Heg1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:1,015,889...1,092,875
Ensembl chrNW_004624731:1,020,805...1,092,995
G
G
HEG1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,782,039...55,874,679
Ensembl chr22:55,809,901...55,871,402
G
P
HEG1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:135,268,566...135,358,673
Ensembl chr13:135,298,377...135,358,670
G
S
Heg1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:261,809...336,390
Ensembl chrNW_004936725:261,712...336,414
G
D
HEG1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:27,982,127...28,044,379
Ensembl chr33:27,987,252...28,044,363
G
B
HEG1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,091,832...122,204,436
Ensembl chr 3:128,969,817...129,028,317
G
C
Heg1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:24,035,193...24,115,483
G
R
Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,512,096...80,600,150
Ensembl chr11:66,957,190...67,095,051
G
M
Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946
G
H
HEG1
heart development protein with EGF like domains 1
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997
G
N
Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chrNW_004624797:14,148,580...14,184,471
G
G
HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:109,629,674...109,671,409
G
P
HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:110,321,144...110,357,902
Ensembl chr X:110,321,204...110,357,894
G
S
Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463
G
D
HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:105,115,732...105,153,702
Ensembl chr X:105,115,732...105,153,702
G
B
HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:123,609,248...123,650,102
Ensembl chr X:133,916,681...133,948,197
G
C
Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chrNW_004955473:462,940...510,006
G
R
Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:137,655,744...137,687,718
Ensembl chr X:132,736,096...132,768,154
G
M
Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:52,076,955...52,110,537
Ensembl chr X:52,077,014...52,110,536
G
H
HPRT1
hypoxanthine phosphoribosyltransferase 1
IAGP
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513
G
N
Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,023,981...1,102,153
Ensembl chrNW_004624912:1,023,567...1,100,937
G
G
HSPBAP1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,081,374...58,131,789
Ensembl chr22:58,081,832...58,132,236
G
P
HSPBAP1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,739,144...137,805,990
Ensembl chr13:137,740,396...137,809,527
G
S
Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,976,625...8,994,974
G
D
HSPBAP1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,803,224...25,868,587
Ensembl chr33:25,803,503...25,868,174
G
B
HSPBAP1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,832,903...119,883,383
Ensembl chr 3:126,737,419...126,786,484
G
C
Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,931,101...22,004,811
Ensembl chrNW_004955427:21,931,502...22,004,807
G
R
Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,445,376...78,500,034
Ensembl chr11:64,940,091...64,994,756
G
M
Hspbap1
Hspb associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,590,009...35,648,832
Ensembl chr16:35,590,745...35,648,847
G
H
HSPBAP1
HSPB1 associated protein 1
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,739,999...122,793,831
Ensembl chr 3:122,739,999...122,793,831
G
N
Ildr1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550
G
G
ILDR1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303
G
P
ILDR1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
G
S
Ildr1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907
G
D
ILDR1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949
G
B
ILDR1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr 3:119,088,855...119,124,831
Ensembl chr 3:125,996,018...126,032,041
G
C
Ildr1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,304,460...21,333,170
Ensembl chrNW_004955427:21,304,890...21,322,261
G
R
Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr11:77,591,146...77,624,268
Ensembl chr11:64,008,566...64,118,760
G
M
Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166
G
H
ILDR1
immunoglobulin like domain containing receptor 1
IAGP
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:28492532
NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247
G
N
Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438
G
G
IQCB1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138
G
P
IQCB1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,367
G
S
Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
G
D
IQCB1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652
G
B
IQCB1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242
G
C
Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683
G
R
Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093
G
M
Iqcb1
IQ calmodulin-binding motif containing 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083
G
H
IQCB1
IQ motif containing B1
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
G
N
Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:804,272...914,204
Ensembl chrNW_004624731:802,854...914,167
G
G
ITGB5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,944,810...56,070,605
Ensembl chr22:55,944,865...56,069,930
G
P
ITGB5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473
G
S
Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760
G
D
ITGB5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584
G
B
ITGB5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,863,676...122,013,438
Ensembl chr 3:128,762,200...128,877,172
G
C
Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:23,851,475...23,952,211
Ensembl chrNW_004955427:23,850,261...23,939,950
G
R
Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,333,588...80,449,373
Ensembl chr11:66,829,285...66,944,472
G
M
Itgb5
integrin beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708
G
H
ITGB5
integrin subunit beta 5
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418
G
N
Kalrn
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:54,934...756,707
Ensembl chrNW_004624731:121,122...752,942
G
G
KALRN
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:56,106,677...56,820,004
Ensembl chr22:56,151,819...56,754,538
G
P
KALRN
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:135,653,795...136,277,072
G
S
Kalrn
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:749,382...1,020,702
Ensembl chrNW_004936725:572,868...1,139,142
G
D
KALRN
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:27,161,403...27,752,891
Ensembl chr33:27,161,504...27,746,497
G
B
KALRN
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441
G
C
Kalrn
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:23,184,751...23,823,128
Ensembl chrNW_004955427:23,184,739...23,816,811
G
R
Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:79,703,345...80,309,210
Ensembl chr11:66,198,173...66,797,610
G
M
Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,789,443...34,393,647
Ensembl chr16:33,789,443...34,393,902
G
H
KALRN
kalirin RhoGEF kinase
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325
G
N
Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:772,420...822,580
G
G
KPNA1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,346,008...58,437,737
Ensembl chr22:58,346,009...58,439,143
G
P
KPNA1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,045,083...138,100,830
Ensembl chr13:138,018,407...138,103,838
G
S
Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,735,159...8,801,385
Ensembl chrNW_004936536:8,737,488...8,801,428
G
D
KPNA1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,561,335...25,631,713
Ensembl chr33:25,566,419...25,631,718
G
B
KPNA1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,513,919...119,604,737
Ensembl chr 3:126,421,700...126,510,325
G
C
Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,705,407...21,764,913
Ensembl chrNW_004955427:21,705,412...21,764,913
G
R
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
G
M
Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,803,693...35,859,479
Ensembl chr16:35,799,120...35,857,501
G
H
KPNA1
karyopherin subunit alpha 1
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,421,902...122,514,939
Ensembl chr 3:122,421,902...122,514,945
G
S
LOC101962583
protein mono-ADP-ribosyltransferase PARP14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,923,398...8,976,583
Ensembl chrNW_004936536:8,923,411...8,974,283
G
G
LOC103228163
ropporin-1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:56,858,260...56,882,208
G
H
LOC113875008
Sharpr-MPRA regulatory region 13828
IAGP
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:129,540,092...129,540,472
G
P
LOC396867
stefin A8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860
G
N
Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:696,488...739,862
Ensembl chrNW_004624912:694,859...727,275
G
G
MIX23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,477,053...58,501,342
Ensembl chr22:58,489,161...58,502,366
G
P
MIX23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,152,426...138,178,458
Ensembl chr13:138,152,491...138,178,444
G
S
Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,671,244...8,696,754
Ensembl chrNW_004936536:8,671,172...8,696,886
G
D
MIX23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,498,248...25,524,037
Ensembl chr33:25,500,540...25,524,063
G
B
MIX23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,447,990...119,473,899
Ensembl chr 3:126,356,033...126,379,627
G
C
Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,639,392...21,667,642
Ensembl chrNW_004955427:21,639,392...21,667,696
G
R
Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,166,038...78,186,323
Ensembl chr11:64,660,711...64,681,000
G
M
Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,892,030...35,912,488
Ensembl chr16:35,892,055...35,912,490
G
H
MIX23
mitochondrial matrix import factor 23
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,359,591...122,383,231
Ensembl chr 3:122,359,591...122,383,231
G
N
Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:943,067...955,989
G
G
MUC13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,898,876...55,930,379
Ensembl chr22:55,899,901...55,930,454
G
P
MUC13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:135,416,709...135,446,337
Ensembl chr13:135,412,425...135,442,691
G
S
Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:381,006...400,333
G
D
MUC13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:27,926,395...27,951,690
Ensembl chr33:27,926,442...27,958,778
G
B
MUC13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,032,535...122,060,974
Ensembl chr 3:128,907,662...128,934,426
G
C
Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:23,979,080...24,001,627
G
R
Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,462,350...80,489,773
Ensembl chr11:66,960,595...66,984,727
G
M
Muc13
mucin 13, epithelial transmembrane
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,614,407...33,640,299
Ensembl chr16:33,614,407...33,640,304
G
H
MUC13
mucin 13, cell surface associated
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819
G
N
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561
G
G
MYLK
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464
G
P
MYLK
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668
G
S
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840
G
D
MYLK
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181
G
B
MYLK
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261
G
C
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508
G
R
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
G
M
Mylk
myosin, light polypeptide kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
G
H
MYLK
myosin light chain kinase
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
G
N
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 chrNW_004624797:8,731,130...8,792,300
Ensembl chrNW_004624797:8,730,713...8,792,727
G
G
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:104,784,900...104,834,718
Ensembl chr X:104,785,526...104,837,243
G
P
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:106,124,991...106,188,066
Ensembl chr X:106,135,431...106,190,110
G
S
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 chrNW_004936479:1,955,362...2,011,608
Ensembl chrNW_004936479:1,953,488...2,012,018
G
D
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:100,760,302...100,817,673
Ensembl chr X:100,757,373...100,831,500
G
B
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:118,670,612...118,721,108
Ensembl chr X:128,968,760...129,018,157
G
C
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 chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
G
R
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:131,955,775...132,018,298
Ensembl chr X:127,089,590...127,140,362
G
M
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:47,001,289...47,055,305
Ensembl chr X:47,001,264...47,054,745
G
H
OCRL
OCRL inositol polyphosphate-5-phosphatase
IAGP
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | 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:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
G
N
Osbpl11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,322,753...73,390,283
Ensembl chrNW_004624730:73,322,639...73,391,823
G
G
OSBPL11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,228,864...55,302,285
Ensembl chr22:55,228,900...55,302,892
G
P
OSBPL11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:134,718,351...134,807,152
Ensembl chr13:134,718,450...134,807,146
G
D
OSBPL11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:28,505,052...28,586,564
Ensembl chr33:28,356,828...28,592,415
G
B
OSBPL11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,662,013...122,731,769
Ensembl chr 3:129,525,882...129,594,899
G
C
Osbpl11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,215,433...24,279,033
Ensembl chrNW_004955420:24,215,737...24,279,033
G
R
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
G
M
Osbpl11
oxysterol binding protein-like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,005,441...33,063,682
Ensembl chr16:33,005,441...33,063,682
G
H
OSBPL11
oxysterol binding protein like 11
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497
G
N
Parp14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:969,144...1,022,506
Ensembl chrNW_004624912:969,236...1,023,564
G
G
PARP14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,135,092...58,185,988
Ensembl chr22:58,134,973...58,185,521
G
P
PARP14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,809,499...137,865,383
Ensembl chr13:137,809,510...137,865,106
G
D
PARP14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,763,282...25,798,284
Ensembl chr33:25,763,255...25,798,198
G
B
PARP14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,773,334...119,823,732
Ensembl chr 3:126,677,868...126,728,256
G
C
Parp14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,878,980...21,929,097
Ensembl chrNW_004955427:21,879,740...21,927,883
G
R
Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,408,134...78,440,201
Ensembl chr11:64,902,785...64,934,916
G
M
Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,652,262...35,691,904
Ensembl chr16:35,653,244...35,691,914
G
H
PARP14
poly(ADP-ribose) polymerase family member 14
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,680,839...122,730,840
Ensembl chr 3:122,680,839...122,730,840
G
G
PARP15
poly(ADP-ribose) polymerase family member 15
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,230,913...58,285,119
Ensembl chr22:58,231,542...58,264,046
G
P
PARP15
poly(ADP-ribose) polymerase family member 15
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,882,179...137,936,389
G
D
PARP15
poly(ADP-ribose) polymerase family member 15
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,689,618...25,737,179
Ensembl chr33:25,700,353...25,735,540
G
B
PARP15
poly(ADP-ribose) polymerase family member 15
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,665,014...119,730,198
Ensembl chr 3:126,601,919...126,634,842
G
H
PARP15
poly(ADP-ribose) polymerase family member 15
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,577,650...122,639,047
Ensembl chr 3:122,577,628...122,639,047
G
N
Parp9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:827,112...968,501
Ensembl chrNW_004624912:827,547...859,199
G
G
PARP9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,297,526...58,336,243
Ensembl chr22:58,298,046...58,337,124
G
P
PARP9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,960,987...138,000,862
Ensembl chr13:137,966,562...138,000,846
G
S
Parp9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,806,824...8,845,099
Ensembl chrNW_004936536:8,806,818...8,840,746
G
D
PARP9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,643,439...25,676,979
Ensembl chr33:25,643,883...25,677,462
G
B
PARP9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,617,722...119,655,039
Ensembl chr 3:126,522,859...126,559,647
G
C
Parp9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,770,158...21,806,091
Ensembl chrNW_004955427:21,770,577...21,804,717
G
R
Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,286,282...78,320,409
Ensembl chr11:64,780,981...64,815,455
G
M
Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,759,360...35,792,975
Ensembl chr16:35,758,840...35,792,975
G
H
PARP9
poly(ADP-ribose) polymerase family member 9
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,527,924...122,564,784
Ensembl chr 3:122,527,924...122,564,577
G
N
Pdia5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,408,645...1,523,498
G
G
PDIA5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,711,049...57,806,058
Ensembl chr22:57,711,041...57,806,037
G
P
PDIA5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,300,086...137,398,465
Ensembl chr13:137,296,883...137,398,628
G
S
Pdia5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:2,024,646...2,114,530
Ensembl chrNW_004936725:2,024,643...2,114,560
G
D
PDIA5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:26,131,969...26,227,256
Ensembl chr33:26,131,893...26,227,253
G
B
PDIA5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:120,155,981...120,250,961
Ensembl chr 3:127,059,751...127,154,451
G
C
Pdia5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:22,268,730...22,356,123
Ensembl chrNW_004955427:22,268,511...22,356,181
G
R
Pdia5
protein disulfide isomerase family A, member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,777,436...78,892,370
Ensembl chr11:65,272,155...65,359,084
G
M
Pdia5
protein disulfide isomerase associated 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,217,678...35,311,289
Ensembl chr16:35,217,682...35,311,243
G
H
PDIA5
protein disulfide isomerase family A member 5
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,067,025...123,162,104
Ensembl chr 3:123,067,025...123,225,227
G
G
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:95,452,481...95,475,933
G
P
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:88,074,861...88,101,925
Ensembl chr X:88,074,965...88,101,910
G
S
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449
G
D
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:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689
G
B
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:96,720,988...96,743,594
Ensembl chr X:107,094,898...107,117,117
G
C
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
G
R
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:108,920,663...108,942,713
Ensembl chr X:104,132,141...104,154,187
G
M
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:139,357,352...139,376,889
Ensembl chr X:139,357,362...139,376,889
G
H
PRPS1
phosphoribosyl pyrophosphate synthetase 1
IAGP
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
G
N
Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:2,324,166...2,351,147
Ensembl chrNW_004624912:2,324,406...2,351,181
G
P
ROPN1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:136,395,628...136,428,170
G
S
Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:1,254,973...1,267,143
G
D
ROPN1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:27,021,990...27,056,675
G
B
ROPN1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,074,182...121,097,320
Ensembl chr 3:127,973,536...127,996,694
G
C
Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:23,104,178...23,140,559
G
R
Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:79,603,053...79,632,344
Ensembl chr11:66,097,856...66,127,148
G
M
Ropn1
ropporin, rhophilin associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:34,470,271...34,498,980
Ensembl chr16:34,470,291...34,498,988
G
H
ROPN1
rhophilin associated tail protein 1
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178
G
N
Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,531,620...1,628,265
G
G
SEC22A
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,597,146...57,666,370
Ensembl chr22:57,597,880...57,669,151
G
P
SEC22A
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,175,790...137,250,698
Ensembl chr13:137,170,961...137,250,550
G
S
Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:1,906,304...1,982,413
Ensembl chrNW_004936725:1,906,362...1,975,567
G
D
SEC22A
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:26,266,476...26,336,544
Ensembl chr33:26,267,429...26,333,831
G
B
SEC22A
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:120,299,636...120,370,517
Ensembl chr 3:127,203,060...127,271,841
G
C
Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:22,389,552...22,456,149
Ensembl chrNW_004955427:22,388,827...22,456,149
G
R
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
G
M
Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,131,505...35,184,222
Ensembl chr16:35,131,501...35,184,288
G
H
SEC22A
SEC22 homolog A, vesicle trafficking protein
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:123,201,943...123,274,136
Ensembl chr 3:123,201,927...123,274,136
G
N
Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,244,801...1,370,253
Ensembl chrNW_004624912:1,244,801...1,280,609
G
G
SEMA5B
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,915,118...57,968,900
Ensembl chr22:57,915,344...57,967,793
G
P
SEMA5B
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,443,982...137,586,962
Ensembl chr13:137,455,346...137,590,831
G
S
Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:2,229,772...2,270,458
Ensembl chrNW_004936725:2,229,764...2,268,894
G
D
SEMA5B
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,971,178...26,041,842
Ensembl chr33:25,970,764...26,091,087
G
B
SEMA5B
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,996,933...120,116,899
Ensembl chr 3:126,900,966...126,986,186
G
C
Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:22,109,946...22,219,497
Ensembl chrNW_004955427:22,109,607...22,180,602
G
R
Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:78,607,805...78,730,724
Ensembl chr11:65,102,031...65,225,311
G
M
Sema5b
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,361,517...35,485,103
Ensembl chr16:35,361,515...35,485,102
G
H
SEMA5B
semaphorin 5B
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,909,082...123,028,605
Ensembl chr 3:122,909,082...123,028,605
G
N
Slc12a8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:1,114,079...1,259,832
Ensembl chrNW_004624731:1,113,489...1,259,344
G
G
SLC12A8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,623,961...55,754,969
Ensembl chr22:55,646,406...55,754,209
G
P
SLC12A8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:135,105,723...135,249,124
Ensembl chr13:135,105,896...135,249,120
G
S
Slc12a8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:100,780...237,525
Ensembl chrNW_004936725:100,823...237,223
G
D
SLC12A8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:28,085,345...28,200,779
Ensembl chr33:28,085,350...28,214,022
G
B
SLC12A8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,214,558...122,344,797
Ensembl chr 3:129,080,749...129,210,872
G
C
Slc12a8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:24,137,420...24,284,485
Ensembl chrNW_004955427:24,137,228...24,284,070
G
R
Slc12a8
solute carrier family 12, member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,622,000...80,771,674
Ensembl chr11:67,116,877...67,266,834
G
M
Slc12a8
solute carrier family 12 (potassium/chloride transporters), member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,337,440...33,484,508
Ensembl chr16:33,337,698...33,484,505
G
H
SLC12A8
solute carrier family 12 member 8
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864
G
N
Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:180,048...222,909
Ensembl chrNW_004624912:179,969...222,909
G
G
SLC15A2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,916,389...58,966,725
Ensembl chr22:58,913,676...58,966,906
G
P
SLC15A2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,595,942...138,634,473
Ensembl chr13:138,595,973...138,632,675
G
S
Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,280,537...8,316,011
Ensembl chrNW_004936536:8,280,448...8,316,064
G
D
SLC15A2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,154,415...25,190,715
Ensembl chr33:25,154,448...25,189,929
G
B
SLC15A2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963
G
C
Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,221,778...21,255,725
Ensembl chrNW_004955427:21,221,750...21,255,725
G
R
Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:77,519,565...77,548,609
Ensembl chr11:64,014,182...64,043,225
G
M
Slc15a2
solute carrier family 15 (H+/peptide transporter), member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:36,570,523...36,605,506
Ensembl chr16:36,570,539...36,605,324
G
H
SLC15A2
solute carrier family 15 member 2
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,894,401...121,944,188
Ensembl chr 3:121,894,401...121,944,188
G
N
Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:1,102,252...1,212,569
Ensembl chrNW_004624912:1,102,279...1,212,569
G
G
SLC49A4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:57,998,168...58,080,900
Ensembl chr22:57,998,708...58,081,270
G
P
SLC49A4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:137,633,471...137,739,114
Ensembl chr13:137,641,425...137,739,098
G
S
Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004937358:39,940...86,612
G
D
SLC49A4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,869,848...25,945,328
Ensembl chr33:25,870,052...25,940,745
G
B
SLC49A4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,883,252...119,968,881
Ensembl chr 3:126,782,782...126,872,936
G
C
Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:22,005,161...22,093,700
Ensembl chrNW_004955427:22,005,161...22,080,336
G
R
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
G
M
Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,514,432...35,589,740
Ensembl chr16:35,514,432...35,589,726
G
H
SLC49A4
solute carrier family 49 member 4
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,795,069...122,881,139
Ensembl chr 3:122,795,069...122,881,139
G
N
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:1,522,467...1,585,793
Ensembl chrNW_004624731:1,522,098...1,586,066
G
G
SNX4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,311,896...55,389,174
Ensembl chr22:55,311,933...55,389,349
G
P
SNX4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:134,824,028...134,903,765
Ensembl chr13:134,824,043...134,905,359
G
S
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004937215:127,074...137,281
G
D
SNX4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:28,413,586...28,468,546
Ensembl chr33:28,419,128...28,469,488
G
B
SNX4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,578,527...122,652,007
Ensembl chr 3:129,443,369...129,515,917
G
C
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:24,520,125...24,579,589
Ensembl chrNW_004955427:24,520,125...24,579,589
G
R
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,965,965...81,023,234
Ensembl chr11:67,460,870...67,518,174
G
M
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,071,826...33,119,932
Ensembl chr16:33,071,812...33,120,639
G
H
SNX4
sorting nexin 4
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202
G
N
Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321
G
G
UMPS
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105
G
P
UMPS
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603
G
S
Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
G
D
UMPS
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
G
B
UMPS
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
G
C
Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
G
R
Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903
G
M
Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408
G
H
UMPS
uridine monophosphate synthetase
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273
G
N
Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624912:762,893...766,690
Ensembl chrNW_004624912:764,076...766,647
G
G
WDR5B
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:58,444,586...58,446,316
Ensembl chr22:58,445,149...58,446,141
G
P
WDR5B
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:138,109,758...138,113,638
Ensembl chr13:138,109,848...138,113,646
G
S
Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936536:8,727,881...8,731,067
Ensembl chrNW_004936536:8,728,735...8,730,367
G
D
WDR5B
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:25,554,218...25,557,025
Ensembl chr33:25,555,419...25,556,408
G
B
WDR5B
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:119,503,001...119,506,814
Ensembl chr 3:126,410,902...126,411,894
G
C
Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:21,698,766...21,700,390
Ensembl chrNW_004955427:21,698,917...21,699,888
G
R
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
G
M
Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:35,861,560...35,863,344
Ensembl chr16:35,861,560...35,864,298
G
H
WDR5B
WD repeat domain 5B
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,411,846...122,416,062
Ensembl chr 3:122,411,846...122,416,062
G
R
Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:80,780,865...80,890,877
Ensembl chr11:67,281,707...67,385,772
G
M
Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733
G
N
Znf148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004624731:1,271,478...1,410,047
Ensembl chrNW_004624731:1,278,242...1,354,063
G
G
ZNF148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr22:55,467,453...55,609,050
G
P
ZNF148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr13:134,968,774...135,093,828
Ensembl chr13:134,969,729...135,089,151
G
S
Znf148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034
G
D
ZNF148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr33:28,229,270...28,347,939
Ensembl chr33:28,233,728...28,348,154
G
B
ZNF148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554
G
C
Znf148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chrNW_004955427:24,294,926...24,430,697
Ensembl chrNW_004955427:24,294,926...24,377,217
G
H
ZNF148
zinc finger protein 148
IAGP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656
G
G
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756
G
P
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252
G
S
Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
G
D
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
G
B
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
G
C
Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
ClinVar OMIM
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 More...
NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
G
R
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811
G
M
Casr
calcium-sensing receptor
IMP ISO IAGP
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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
G
H
CASR
calcium sensing receptor
ISO IAGP ISS EXP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 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:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 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: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: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:16649980 PMID:16740594 PMID:17018660 PMID:17039419 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:19696993 PMID:19759318 PMID:19779033 PMID:19953642 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:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 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:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750
G
G
GNA11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704
G
P
GNA11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
G
S
Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
G
D
GNA11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
G
B
GNA11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
G
C
Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chrNW_004955495:5,286,891...5,302,631
Ensembl chrNW_004955495:5,285,380...5,302,631
G
R
Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,162,750...8,179,812
G
M
Gna11
guanine nucleotide binding protein, alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024
G
H
GNA11
G protein subunit alpha 11
IAGP EXP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
OMIM ClinVar
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 chrNW_004624832:6,788,149...6,797,026
Ensembl chrNW_004624832:6,787,149...6,797,131
G
G
AP2S1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
OMIM ClinVar
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 6:40,175,106...40,194,936
G
P
AP2S1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
OMIM ClinVar
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 6:52,695,640...52,703,263
Ensembl chr 6:52,695,640...52,703,278
G
D
AP2S1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
OMIM ClinVar
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 1:109,094,098...109,105,233
Ensembl chr 1:109,082,221...109,105,230
G
B
AP2S1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
OMIM ClinVar
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 chr19:43,827,907...43,840,682
G
C
Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
OMIM ClinVar
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 chrNW_004955574:835,272...845,710
Ensembl chrNW_004955574:830,910...846,161
G
R
Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: AP2S1-related condition | 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 1:86,545,601...86,557,007
Ensembl chr 1:77,417,477...77,428,905
G
M
Ap2s1
adaptor-related protein complex 2, sigma 1 subunit
ISO
ClinVar Annotator: match by term: AP2S1-related condition | 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 7:16,472,369...16,483,215
Ensembl chr 7:16,472,335...16,483,219
G
H
AP2S1
adaptor related protein complex 2 subunit sigma 1
IAGP EXP
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 ClinVar Annotator: match by term: AP2S1-related condition | 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 chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
G
CYP24A1
cytochrome P450 family 24 subfamily A member 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:27639704 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:37358380 PMID:37701149 More...
NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
G
P
CYP24A1
cytochrome P450 family 24 subfamily A member 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:27639704 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:37358380 PMID:37701149 More...
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
G
D
CYP24A1
cytochrome P450 family 24 subfamily A member 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:27639704 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:37358380 PMID:37701149 More...
NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
G
B
CYP24A1
cytochrome P450 family 24 subfamily A member 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:27639704 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:37358380 PMID:37701149 More...
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
G
R
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:27639704 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:37358380 PMID:37701149 More...
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
G
M
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:27639704 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:37358380 PMID:37701149 More...
NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065
G
H
CYP24A1
cytochrome P450 family 24 subfamily A member 1
IAGP
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:26787776 PMID:26846157 PMID:27394135 PMID:27639704 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:37358380 PMID:37701149 More...
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
G
N
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chrNW_004624915:95,155...110,834
G
G
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596
G
P
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
G
S
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
G
D
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
G
B
KL
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
G
C
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215
G
R
Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080
G
M
Kl
klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
G
H
KL
klotho
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
G
N
LOC101716773
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
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:27639704 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:37358380 PMID:37701149 More...
NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425
G
S
LOC101957714
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
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:27639704 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:37358380 PMID:37701149 More...
NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
G
C
LOC102013768
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
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:27639704 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:37358380 PMID:37701149 More...
NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901
G
G
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695
G
P
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
G
S
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
G
D
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
G
B
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
G
C
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
G
R
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
G
M
Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
G
H
SLC34A1
solute carrier family 34 member 1
IAGP
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
ClinVar OMIM
PMID:9536098 PMID:12324554 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:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
G
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
G
P
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
G
D
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
G
B
CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
G
R
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 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
G
M
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 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065
G
H
CYP24A1
cytochrome P450 family 24 subfamily A member 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile hypercalcemia
CTD ClinVar
PMID:25741868
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
G
N
LOC101716773
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425
G
S
LOC101957714
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
G
C
LOC102013768
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia
ClinVar
PMID:25741868
NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
G
N
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901
G
G
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695
G
P
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
G
S
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
G
D
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
G
B
SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
G
C
Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
G
R
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 PMID:26047794 PMID:28492532
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
G
M
Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
G
H
SLC34A1
solute carrier family 34 member 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
G
G
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519
G
P
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609
G
S
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537
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D
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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B
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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C
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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R
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
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M
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO IAGP
ClinVar Annotator: match by term: SHORT syndrome CTD Direct Evidence: marker/mechanism OMIM:269880
OMIM ClinVar CTD MouseDO
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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H
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
IAGP ISS EXP
ClinVar Annotator: match by term: SHORT syndrome OMIM:269880 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM
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:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 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:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all