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
Cdk4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275
G
G
CDK4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
G
P
CDK4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
G
S
Cdk4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chrNW_004936646:1,886,262...1,889,260
G
D
CDK4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
G
B
CDK4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
G
C
Cdk4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
G
R
Cdk4
cyclin-dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
G
M
Cdk4
cyclin dependent kinase 4
IEP
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
G
H
CDK4
cyclin dependent kinase 4
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
G
N
Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
G
G
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
G
P
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
G
S
Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461
G
D
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
G
B
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
G
C
Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
G
R
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
M
Cdkn1b
cyclin dependent kinase inhibitor 1B
IEP
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
G
H
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes
RGD
PMID:18310289
RGD:2293582
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
G
N
Cga
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chrNW_004624799:7,249,502...7,265,662
Ensembl chrNW_004624799:7,249,586...7,265,999
G
G
CGA
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chr13:11,560,543...11,578,070
Ensembl chr13:11,560,222...11,578,093
G
P
CGA
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
G
S
Cga
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chrNW_004936510:4,679,349...4,696,511
Ensembl chrNW_004936510:4,679,321...4,696,529
G
D
CGA
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640
G
B
CGA
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300
G
C
Cga
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chrNW_004955411:14,092,743...14,168,297
Ensembl chrNW_004955411:14,092,743...14,095,302
G
R
Cga
glycoprotein hormones, alpha polypeptide
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:49,487,068...49,499,191
G
M
Cga
glycoprotein hormones, alpha subunit
ISO
RGD
PMID:16007123
RGD:2293633
NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370
G
H
CGA
glycoprotein hormones, alpha polypeptide
IEP
RGD
PMID:16007123
RGD:2293633
NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106
G
N
Esr1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
G
G
ESR1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
G
P
ESR1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
G
S
Esr1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
G
D
ESR1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
G
B
ESR1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
G
C
Esr1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
G
R
Esr1
estrogen receptor 1
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
G
M
Esr1
estrogen receptor 1 (alpha)
ISO
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
G
H
ESR1
estrogen receptor 1
IEP
protein:increased expression:testis
RGD
PMID:17656605
RGD:2290041
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
G
N
Flt1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104
G
G
FLT1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967
G
P
FLT1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
G
S
Flt1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
G
D
FLT1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
G
B
FLT1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chr13:9,584,850...9,779,542
G
C
Flt1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
G
R
Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
G
M
Flt1
FMS-like tyrosine kinase 1
ISO
RGD
PMID:14517422
RGD:2301251
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
G
H
FLT1
fms related receptor tyrosine kinase 1
IEP
RGD
PMID:14517422
RGD:2301251
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
G
N
Inha
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
G
G
INHA
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chr10:105,467,575...105,471,388
Ensembl chr10:105,467,963...105,471,688
G
P
INHA
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
G
S
Inha
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chrNW_004936569:1,949,747...1,954,179
Ensembl chrNW_004936569:1,950,297...1,954,165
G
D
INHA
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391
G
B
INHA
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386
G
C
Inha
inhibin subunit alpha
ISO
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chrNW_004955453:13,902,443...13,905,008
Ensembl chrNW_004955453:13,902,277...13,905,008
G
R
Inha
inhibin subunit alpha
IEP
protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats
RGD
PMID:11545298
RGD:2290379
NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:76,993,589...76,997,248
G
M
Inha
inhibin alpha
ISO
RGD
PMID:11545298
RGD:2290379
NCBI chr 1:75,483,872...75,487,010
Ensembl chr 1:75,483,721...75,487,010
G
H
INHA
inhibin subunit alpha
ISO
RGD
PMID:11545298
RGD:2290379
NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711
G
G
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr 6:42,247,254...42,248,822
G
P
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
G
D
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr 1:107,382,855...107,384,029
G
B
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr19:46,017,880...46,021,395
Ensembl chr19:54,738,139...54,739,424
G
C
Lhb
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chrNW_004955559:1,656,106...1,657,192
G
R
Lhb
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:95,900,984...95,901,972 Ensembl chr 1:95,900,984...95,901,972
G
M
Lhb
luteinizing hormone beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr 7:45,070,370...45,071,278
Ensembl chr 7:45,070,244...45,071,321
G
H
LHB
luteinizing hormone subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25289773
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
G
N
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:transversion:CDS:1732G>C, amino acid D578H
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chrNW_004624738:29,902,364...29,967,384
Ensembl chrNW_004624738:29,903,571...29,966,915
G
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:transversion:CDS:1732G>C, amino acid D578H
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chr14:58,413,334...58,479,124
Ensembl chr14:58,413,993...58,477,987
G
P
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
DNA:transversion:CDS:1732G>C, amino acid D578H CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
S
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:transversion:CDS:1732G>C, amino acid D578H
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890
G
D
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
DNA:transversion:CDS:1732G>C, amino acid D578H CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036
G
B
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:transversion:CDS:1732G>C, amino acid D578H
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780
G
C
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
DNA:transversion:CDS:1732G>C, amino acid D578H CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10580072 PMID:11857565 PMID:15967102
RGD:2292537 RGD:2302176
NCBI chrNW_004955441:15,205,883...15,263,617
Ensembl chrNW_004955441:15,207,252...15,242,914
G
R
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565
RGD:2302176 , RGD:2292537
NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
G
M
Lhcgr
luteinizing hormone/choriogonadotropin receptor
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565
RGD:2302176 , RGD:2292537
NCBI chr17:89,023,812...89,099,487
Ensembl chr17:89,023,909...89,099,418
G
H
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:transversion:CDS:1732G>C, amino acid D578H
CTD RGD
PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565
RGD:2302176 , RGD:2292537
NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
G
N
Pdgfa
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866
G
G
PDGFA
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827
G
P
PDGFA
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712
G
S
Pdgfa
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613
G
D
PDGFA
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396
G
B
PDGFA
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 7:648,722...672,023
G
C
Pdgfa
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550
G
R
Pdgfa
platelet derived growth factor subunit A
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497
G
M
Pdgfa
platelet derived growth factor, alpha
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125
G
H
PDGFA
platelet derived growth factor subunit A
IEP
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296
G
N
Pdgfb
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
G
G
PDGFB
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
G
P
PDGFB
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
Ensembl chr 5:8,986,462...9,007,435
G
S
Pdgfb
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
G
D
PDGFB
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
G
B
PDGFB
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
G
C
Pdgfb
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
G
R
Pdgfb
platelet derived growth factor subunit B
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
G
M
Pdgfb
platelet derived growth factor, B polypeptide
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
G
H
PDGFB
platelet derived growth factor subunit B
IEP
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
G
N
Pdgfra
platelet derived growth factor receptor alpha
ISO
protein:increased expression:testis, leydig cell mRNA:alternative form:testis
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
G
G
PDGFRA
platelet derived growth factor receptor alpha
ISO
mRNA:alternative form:testis protein:increased expression:testis, leydig cell
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
G
P
PDGFRA
platelet derived growth factor receptor alpha
ISO
protein:increased expression:testis, leydig cell mRNA:alternative form:testis
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
G
S
Pdgfra
platelet derived growth factor receptor alpha
ISO
protein:increased expression:testis, leydig cell mRNA:alternative form:testis
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
G
D
PDGFRA
platelet derived growth factor receptor alpha
ISO
mRNA:alternative form:testis protein:increased expression:testis, leydig cell
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
G
B
PDGFRA
platelet derived growth factor receptor alpha
ISO
protein:increased expression:testis, leydig cell mRNA:alternative form:testis
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
G
C
Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:alternative form:testis protein:increased expression:testis, leydig cell
RGD
PMID:11920744 PMID:11994382
RGD:2298579 RGD:2298580
NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
G
R
Pdgfra
platelet derived growth factor receptor alpha
ISO
protein:increased expression:testis, leydig cell mRNA:alternative form:testis
RGD
PMID:11994382 PMID:11920744
RGD:2298579 , RGD:2298580
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
G
M
Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
mRNA:alternative form:testis protein:increased expression:testis, leydig cell
RGD
PMID:11920744 PMID:11994382
RGD:2298580 , RGD:2298579
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
G
H
PDGFRA
platelet derived growth factor receptor alpha
IEP
mRNA:alternative form:testis protein:increased expression:testis, leydig cell
RGD
PMID:11920744 PMID:11994382
RGD:2298580 , RGD:2298579
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
G
N
Pdgfrb
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
G
G
PDGFRB
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
G
P
PDGFRB
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
G
S
Pdgfrb
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
G
D
PDGFRB
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
G
B
PDGFRB
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
G
C
Pdgfrb
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
G
R
Pdgfrb
platelet derived growth factor receptor beta
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
G
M
Pdgfrb
platelet derived growth factor receptor, beta polypeptide
ISO
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
G
H
PDGFRB
platelet derived growth factor receptor beta
IEP
protein:increased expression:testis, leydig cell
RGD
PMID:11994382
RGD:2298579
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
G
N
Prl
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chrNW_004624756:4,585,542...4,593,285
G
G
PRL
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631
G
P
PRL
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
G
S
Prl
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chrNW_004936552:7,204,298...7,212,632
G
D
PRL
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
G
B
PRL
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
G
C
Prl
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chrNW_004955483:4,495,257...4,503,377
G
R
Prl
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062
G
M
Prl
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
G
H
PRL
prolactin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:4092719
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
G
N
Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
G
G
PRMT5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518
G
P
PRMT5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989
G
S
Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chrNW_004936722:1,379,515...1,388,538
Ensembl chrNW_004936722:1,379,515...1,388,546
G
D
PRMT5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456
G
B
PRMT5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018
G
C
Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093
G
R
Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296
G
M
Prmt5
protein arginine N-methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
G
H
PRMT5
protein arginine methyltransferase 5
IEP
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
D
GTF2A1L
general transcription factor IIA subunit 1 like
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr10:50,488,530...50,533,526
Ensembl chr10:50,488,530...50,533,516
G
N
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chrNW_004624738:29,902,364...29,967,384
Ensembl chrNW_004624738:29,903,571...29,966,915
G
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr14:58,413,334...58,479,124
Ensembl chr14:58,413,993...58,477,987
G
P
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
S
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890
G
D
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036
G
B
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780
G
C
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chrNW_004955441:15,205,883...15,263,617
Ensembl chrNW_004955441:15,207,252...15,242,914
G
R
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
G
M
Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr17:89,023,812...89,099,487
Ensembl chr17:89,023,909...89,099,418
G
H
LHCGR
luteinizing hormone/choriogonadotropin receptor
IAGP
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
G
H
STON1-GTF2A1L
STON1-GTF2A1L readthrough
IAGP
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all