RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: morbid obesity
Accession: DOID:11981
browse the term
Definition: The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.
Synonyms: exact_synonym: morbid obesities; severe obesities; severe obesity
primary_id: MESH:D009767
xref: EFO:0001074 ; ICD9CM:278.01 ; NCI:C34858
For additional species annotation, visit the
Alliance of Genome Resources .
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Acss2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chrNW_004624842:4,470,551...4,523,174
Ensembl chrNW_004624842:4,471,360...4,522,849
G
G
ACSS2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr 2:39,181,446...39,230,164
Ensembl chr 2:39,181,468...39,229,444
G
P
ACSS2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,757
G
S
Acss2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chrNW_004936561:5,794,685...5,842,619
Ensembl chrNW_004936561:5,795,077...5,842,676
G
D
ACSS2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651
G
B
ACSS2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526
G
C
Acss2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
G
R
Acss2
acyl-CoA synthetase short-chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:144,004,336...144,059,675
G
M
Acss2
acyl-CoA synthetase short-chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr 2:155,359,963...155,404,663
Ensembl chr 2:155,359,868...155,427,644
G
H
ACSS2
acyl-CoA synthetase short chain family member 2
treatment
IEP
RGD
PMID:22384010
RGD:13831306
NCBI chr20:34,874,989...34,927,959
Ensembl chr20:34,872,146...34,927,962
G
N
Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chrNW_004624738:7,163,189...7,249,249
Ensembl chrNW_004624738:7,163,354...7,249,190
G
G
ADCY3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr14:82,752,786...82,858,727
Ensembl chr14:82,753,177...82,859,415
G
P
ADCY3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr 3:113,875,005...113,969,053
Ensembl chr 3:113,876,339...113,982,369
G
S
Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chrNW_004936493:7,250,194...7,333,433
Ensembl chrNW_004936493:7,250,194...7,335,691
G
D
ADCY3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr17:19,153,732...19,231,943
Ensembl chr17:19,154,571...19,232,411
G
B
ADCY3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr2A:24,812,729...24,913,539
Ensembl chr2A:24,908,108...25,009,163
G
C
Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chrNW_004955469:6,933,208...7,026,179
Ensembl chrNW_004955469:6,929,092...7,026,758
G
R
Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr 6:32,819,602...32,923,174
Ensembl chr 6:27,124,828...27,203,686
G
M
Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr12:4,183,397...4,263,525
Ensembl chr12:4,183,103...4,263,525
G
H
ADCY3
adenylate cyclase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237
G
N
Ager
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chrNW_004624754:24,138,086...24,140,900
G
G
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
G
P
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
G
S
Ager
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
G
D
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
G
B
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
C
Ager
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
G
R
Ager
advanced glycosylation end product-specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
G
M
Ager
advanced glycosylation end product-specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
G
H
AGER
advanced glycosylation end-product specific receptor
treatment
IDA
RGD
PMID:22828946
RGD:7243249
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
G
N
Apln
apelin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chrNW_004624797:8,857,490...8,866,157
Ensembl chrNW_004624797:8,857,070...8,866,329
G
G
APLN
apelin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chr X:104,885,639...104,896,371
Ensembl chr X:104,888,996...104,895,014
G
P
APLN
apelin
ISO
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chr X:106,236,746...106,246,563
Ensembl chr X:106,236,749...106,246,377
G
S
Apln
apelin
ISO
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chrNW_004936479:1,889,930...1,899,811
Ensembl chrNW_004936479:1,890,229...1,899,730
G
D
APLN
apelin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chr X:100,863,360...100,873,105
G
B
APLN
apelin
ISO
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chr X:118,775,509...118,785,224
G
C
Apln
apelin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
G
R
Apln
apelin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
RGD
PMID:19756893 PMID:15970339
RGD:2313938 , RGD:1600932
NCBI chr X:132,058,739...132,091,518
Ensembl chr X:127,203,823...127,213,391
G
M
Apln
apelin
ISO
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15970339 PMID:19756893
RGD:1600932 , RGD:2313938
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
G
H
APLN
apelin
IEP
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15970339 PMID:19756893
RGD:1600932 , RGD:2313938
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
G
N
Aqp7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chrNW_004624736:38,130,992...38,148,444
G
G
AQP7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr12:46,866,519...46,886,525
G
P
AQP7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr10:33,098,746...33,130,245
G
S
Aqp7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chrNW_004936524:1,898,635...1,915,078
G
D
AQP7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr11:50,474,007...50,488,191
G
B
AQP7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr 9:33,160,982...33,180,638
G
C
Aqp7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chrNW_004955472:2,283,426...2,297,251
G
R
Aqp7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642
G
M
Aqp7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139
G
H
AQP7
aquaporin 7
IEP
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682
G
N
Bbs4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chrNW_004624781:1,502,069...1,553,101
Ensembl chrNW_004624781:1,503,816...1,538,755
G
G
BBS4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr26:10,742,982...10,799,615
Ensembl chr26:10,743,850...10,775,908
G
P
BBS4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334
G
S
Bbs4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712
G
D
BBS4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr30:36,058,932...36,109,206
Ensembl chr30:35,927,233...36,108,381
G
B
BBS4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
G
C
Bbs4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chrNW_004955450:4,624,634...4,668,470
Ensembl chrNW_004955450:4,631,266...4,662,719
G
R
Bbs4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:59,731,912...59,765,607
G
M
Bbs4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791
G
H
BBS4
Bardet-Biedl syndrome 4
susceptibility
IAGP
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
G
N
Bdnf
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490
G
G
BDNF
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
G
P
BDNF
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
S
Bdnf
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014
G
D
BDNF
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
G
B
BDNF
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
G
C
Bdnf
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
G
R
Bdnf
brain-derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
G
M
Bdnf
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
H
BDNF
brain derived neurotrophic factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
G
N
Cck
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chrNW_004624730:77,310,080...77,314,258
Ensembl chrNW_004624730:77,309,633...77,314,384
G
G
CCK
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956
G
P
CCK
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793
G
S
Cck
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chrNW_004936695:2,776,705...2,782,280
Ensembl chrNW_004936695:2,776,831...2,782,061
G
D
CCK
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198
G
B
CCK
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396
G
C
Cck
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458
G
R
Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 8:130,031,012...130,037,702
Ensembl chr 8:121,153,500...121,160,084
G
M
Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
G
H
CCK
cholecystokinin
IEP
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
G
N
Cpe
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chrNW_004624758:11,464,418...11,603,660
Ensembl chrNW_004624758:11,463,012...11,604,224
G
G
CPE
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr 7:111,747,265...111,867,548
Ensembl chr 7:111,747,172...111,868,754
G
P
CPE
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268
G
S
Cpe
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chrNW_004936555:531,842...641,905
Ensembl chrNW_004936555:530,307...641,905
G
D
CPE
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr15:61,321,588...61,422,608
Ensembl chr15:61,321,227...61,414,789
G
B
CPE
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr 4:157,575,157...157,705,173
Ensembl chr 4:169,659,007...169,780,739
G
C
Cpe
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chrNW_004955403:39,862,893...39,971,902
Ensembl chrNW_004955403:39,862,191...39,971,902
G
R
Cpe
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr16:29,796,707...29,908,647
Ensembl chr16:25,030,276...25,142,233
G
M
Cpe
carboxypeptidase E
ISO
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr 8:65,045,576...65,146,143
Ensembl chr 8:65,045,576...65,146,088
G
H
CPE
carboxypeptidase E
IEP
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects
RGD
PMID:12530526
RGD:1626182
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
G
N
Ctnnbl1
catenin beta like 1
susceptibility no_association
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chrNW_004624842:1,764,763...1,949,691
Ensembl chrNW_004624842:1,764,067...1,949,787
G
G
CTNNBL1
catenin beta like 1
no_association susceptibility
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chr 2:25,877,750...26,055,283
Ensembl chr 2:25,877,700...26,055,209
G
P
CTNNBL1
catenin beta like 1
susceptibility no_association
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chr17:40,809,932...40,948,844
Ensembl chr17:40,774,720...40,949,022
G
S
Ctnnbl1
catenin beta like 1
no_association susceptibility
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chrNW_004936561:3,434,232...3,589,341
Ensembl chrNW_004936561:3,434,731...3,589,341
G
D
CTNNBL1
catenin beta like 1
no_association susceptibility
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163
G
B
CTNNBL1
catenin beta like 1
no_association susceptibility
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chr20:34,015,883...34,192,958
Ensembl chr20:35,129,836...35,306,836
G
C
Ctnnbl1
catenin beta like 1
susceptibility no_association
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chrNW_004955445:18,809,389...18,975,858
Ensembl chrNW_004955445:18,809,023...18,976,255
G
R
Ctnnbl1
catenin, beta like 1
susceptibility no_association
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19245693 PMID:19228371
RGD:9850251 , RGD:9850253
NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:146,387,889...146,548,987
G
M
Ctnnbl1
catenin, beta like 1
susceptibility no_association
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19245693 PMID:19228371
RGD:9850251 , RGD:9850253
NCBI chr 2:157,579,321...157,733,823
Ensembl chr 2:157,579,321...157,733,534
G
H
CTNNBL1
catenin beta like 1
susceptibility no_association
IAGP
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19245693 PMID:19228371
RGD:9850251 , RGD:9850253
NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,694,030...37,872,129
G
G
CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211
G
P
CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
G
D
CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
G
B
CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
Ensembl chr10:134,839,025...134,852,719
G
R
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:12883487
RGD:1626305
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
G
M
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:12883487
RGD:1626305
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
G
H
CYP2E1
cytochrome P450 family 2 subfamily E member 1
IEP
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
G
N
Ghrl
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473
G
G
GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962
G
P
GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
G
S
Ghrl
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506
G
D
GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
G
B
GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
G
C
Ghrl
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
G
R
Ghrl
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
G
M
Ghrl
ghrelin
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
G
H
GHRL
ghrelin and obestatin prepropeptide
IDA
RGD
PMID:19188925
RGD:2313745
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
G
N
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705
G
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
G
P
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
G
S
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
G
D
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
G
B
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
G
C
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
G
R
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
M
Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
G
H
HIF1A
hypoxia inducible factor 1 subunit alpha
IEP
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
G
N
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
G
G
IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
G
P
IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
G
S
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
G
D
IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
G
B
IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
G
C
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
R
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
G
M
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
H
IL1RN
interleukin 1 receptor antagonist
IEP
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
G
N
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079
G
G
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716
G
P
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
G
S
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365
G
D
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
G
B
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
G
C
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028
G
R
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr15:351,065...1,057,117
Ensembl chr15:302,214...1,001,198
G
M
Kcnma1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559
G
H
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
G
N
Ksr2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chrNW_004624747:15,492,312...15,931,358
Ensembl chrNW_004624747:15,493,281...15,916,052
G
G
KSR2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr11:112,784,275...113,307,935
Ensembl chr11:112,784,728...113,084,697
G
P
KSR2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr14:34,675,349...35,090,007
Ensembl chr14:34,676,164...35,089,997
G
S
Ksr2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chrNW_004936558:4,786,148...5,146,062
Ensembl chrNW_004936558:4,785,718...5,141,609
G
D
KSR2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr26:13,986,172...14,394,236
Ensembl chr26:13,987,827...14,395,111
G
B
KSR2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr12:115,038,344...115,548,452
Ensembl chr12:118,420,483...118,925,686
G
C
Ksr2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chrNW_004955455:13,375,306...13,777,681
Ensembl chrNW_004955455:13,374,729...13,773,392
G
R
Ksr2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr12:44,462,579...44,848,555
Ensembl chr12:38,802,004...39,188,375
G
M
Ksr2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 5:117,552,067...117,906,061
Ensembl chr 5:117,552,036...117,913,068
G
H
KSR2
kinase suppressor of ras 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr12:117,453,012...117,968,990
Ensembl chr12:117,453,012...117,968,990
G
N
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727
G
G
LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
G
P
LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
S
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
G
D
LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
G
B
LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
G
C
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
G
R
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
G
M
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
H
LEP
leptin
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
G
N
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049
G
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229
G
P
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
S
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444
G
D
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
G
B
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
G
C
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
G
R
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
M
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
G
H
LEPR
leptin receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
G
N
LOC101722366
cytochrome P450 2E1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514
G
S
LOC101973029
cytochrome P450 2E1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102
G
C
LOC102026028
cytochrome P450 2E1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
G
N
Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chrNW_004624865:4,220,047...4,258,014
Ensembl chrNW_004624865:4,219,081...4,258,448
G
G
LPIN1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr14:95,777,976...95,926,420
Ensembl chr14:95,780,478...95,926,419
G
P
LPIN1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr 3:124,940,557...125,074,137
Ensembl chr 3:124,940,561...125,074,122
G
S
Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chrNW_004936532:7,596,279...7,654,139
Ensembl chrNW_004936532:7,605,965...7,652,573
G
D
LPIN1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr17:8,348,860...8,480,447
Ensembl chr17:8,348,886...8,478,863
G
B
LPIN1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551
G
C
Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chrNW_004955487:6,139,188...6,207,316
Ensembl chrNW_004955487:6,138,926...6,210,012
G
R
Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr 6:45,039,110...45,145,845
Ensembl chr 6:39,312,748...39,417,097
G
M
Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr12:16,585,670...16,697,020
Ensembl chr12:16,585,670...16,696,967
G
H
LPIN1
lipin 1
IEP
RGD
PMID:17563064
RGD:1641822
NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
G
N
Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chrNW_004624792:5,865,902...5,867,498
Ensembl chrNW_004624792:5,866,119...5,867,120
G
G
MC4R
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chr18:19,380,054...19,386,412
Ensembl chr18:19,380,849...19,381,847
G
P
MC4R
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chr 1:160,772,013...160,774,124
Ensembl chr 1:160,772,013...160,774,124
G
S
Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chrNW_004936497:4,636,370...4,638,205
Ensembl chrNW_004936497:4,636,758...4,637,759
G
D
MC4R
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079
G
B
MC4R
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
G
C
Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chrNW_004955402:44,453,973...44,456,689
Ensembl chrNW_004955402:44,455,294...44,456,292
G
R
Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29273807 PMID:29311635 PMID:11443223 PMID:12588803
RGD:1600755 , RGD:1600750
NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719
G
M
Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29273807 PMID:29311635 PMID:11443223 PMID:12588803
RGD:1600755 , RGD:1600750
NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
G
H
MC4R
melanocortin 4 receptor
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29273807 PMID:29311635 PMID:12588803 PMID:11443223
RGD:1600750 , RGD:1600755
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
G
N
Mchr1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chrNW_004624752:7,801,867...7,805,791
Ensembl chrNW_004624752:7,801,948...7,805,635
G
G
MCHR1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr19:23,240,509...23,245,553
Ensembl chr19:23,241,487...23,243,950
G
P
MCHR1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr 5:7,735,752...7,752,006
Ensembl chr 5:7,735,825...7,738,701
G
S
Mchr1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chrNW_004936492:1,153,895...1,156,980
Ensembl chrNW_004936492:1,153,651...1,157,142
G
D
MCHR1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr10:24,526,687...24,560,948
Ensembl chr10:24,526,693...24,559,836
G
B
MCHR1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr22:21,577,190...21,581,062
Ensembl chr22:39,673,698...39,677,517
G
C
Mchr1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chrNW_004955413:26,343,771...26,347,374
Ensembl chrNW_004955413:26,343,759...26,347,520
G
R
Mchr1
melanin-concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr 7:114,641,721...114,644,913
Ensembl chr 7:112,761,554...112,764,032
G
M
Mchr1
melanin-concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr15:81,119,700...81,123,165
Ensembl chr15:81,119,700...81,123,165
G
H
MCHR1
melanin concentrating hormone receptor 1
onset
IAGP
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr22:40,679,484...40,682,812
Ensembl chr22:40,679,273...40,682,812
G
N
Nppb
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chrNW_004624818:1,139,776...1,141,010
G
G
NPPB
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197
G
P
NPPB
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
G
S
Nppb
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665
G
D
NPPB
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 2:84,395,844...84,397,473
G
B
NPPB
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
G
C
Nppb
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chrNW_004955486:2,054,775...2,056,130
G
R
Nppb
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
G
M
Nppb
natriuretic peptide type B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
G
H
NPPB
natriuretic peptide B
IEP
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
G
N
Npy2r
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chrNW_004624848:3,049,009...3,054,548
Ensembl chrNW_004624848:3,048,413...3,054,495
G
G
NPY2R
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chr 7:101,696,081...101,773,782
Ensembl chr 7:101,770,551...101,771,696
G
P
NPY2R
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chr 8:74,039,959...74,048,398
Ensembl chr 8:74,039,616...74,047,817
G
S
Npy2r
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chrNW_004936576:1,932,526...1,939,560
Ensembl chrNW_004936576:1,932,870...1,938,703
G
D
NPY2R
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818
G
B
NPY2R
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chr 4:147,542,551...147,586,397
Ensembl chr 4:159,401,080...159,402,231
G
C
Npy2r
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114
G
R
Npy2r
neuropeptide Y receptor Y2
ISO
RGD
PMID:15855352
RGD:1642381
NCBI chr 2:170,200,027...170,210,286
Ensembl chr 2:167,903,879...167,905,024
G
M
Npy2r
neuropeptide Y receptor Y2
ISO
RGD
PMID:15855352
RGD:1642381
NCBI chr 3:82,445,688...82,455,404
Ensembl chr 3:82,445,690...82,455,391
G
H
NPY2R
neuropeptide Y receptor Y2
IAGP
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
G
N
Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chrNW_004624809:8,274,736...8,622,287
Ensembl chrNW_004624809:8,276,951...8,616,765
G
G
NTRK2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364
G
P
NTRK2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
G
S
Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928
G
D
NTRK2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032
G
B
NTRK2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
G
C
Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
G
R
Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
ISO
RGD
PMID:16702999
RGD:1626135
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136
G
M
Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
onset
ISO
RGD
PMID:16702999
RGD:1626135
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
G
H
NTRK2
neurotrophic receptor tyrosine kinase 2
onset
IAGP
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
G
R
Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:4,395,543...4,442,434
G
M
Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr13:75,237,407...75,282,980
Ensembl chr13:75,237,945...75,282,980
G
H
PCSK1
proprotein convertase subtilisin/kexin type 1
TAS
RGD
PMID:11874690
RGD:1357926
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
G
R
Pomc
proopiomelanocortin
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
G
M
Pomc
pro-opiomelanocortin-alpha
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
G
H
POMC
proopiomelanocortin
TAS
RGD
PMID:11874690
RGD:1357926
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
G
N
Pparg
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481
G
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418
G
P
PPARG
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
G
S
Pparg
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743
G
D
PPARG
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
G
B
PPARG
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
G
C
Pparg
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
G
R
Pparg
peroxisome proliferator-activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
G
M
Pparg
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
G
H
PPARG
peroxisome proliferator activated receptor gamma
IAGP
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
G
G
UCP3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807
G
P
UCP3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211
G
S
Ucp3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chrNW_004936498:3,082,575...3,095,739
Ensembl chrNW_004936498:3,082,575...3,095,737
G
D
UCP3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
G
B
UCP3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
G
C
Ucp3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chrNW_004955414:17,558,889...17,578,108
Ensembl chrNW_004955414:17,558,889...17,578,737
G
R
Ucp3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
G
M
Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
G
H
UCP3
uncoupling protein 3
IAGP
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Lep
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727
G
G
LEP
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
G
P
LEP
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
S
Lep
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
G
D
LEP
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
G
B
LEP
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
G
C
Lep
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
G
R
Lep
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
G
M
Lep
leptin
ISO
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
OMIM ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
H
LEP
leptin
IAGP
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency ClinVar Annotator: match by term: Leptin dysfunction
ClinVar OMIM
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
G
N
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049
G
G
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229
G
P
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
S
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444
G
D
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
G
B
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
G
C
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
G
R
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
M
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
G
H
LEPR
leptin receptor
IAGP
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
G
H
LOC106728418
LEP 5' regulatory region
IAGP
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 7:128,238,356...128,241,306
G
M
LOC108150746
Lep proximal promoter region
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 6:29,059,459...29,060,269
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049
G
G
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229
G
P
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
S
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444
G
D
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
G
B
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
G
C
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
G
R
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
M
Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
OMIM ClinVar
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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H
LEPR
leptin receptor
IAGP
ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar Annotator: match by term: LEPR-related condition ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar OMIM
PMID:8666155 PMID:9144432 PMID:9287054 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:23760429 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:33660144 PMID:34097736 PMID:37140700 More...
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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N
Leprot
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624742:29,378,770...29,393,354
Ensembl chrNW_004624742:29,381,079...29,393,411
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G
LEPROT
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:67,643,371...67,655,995
Ensembl chr20:67,639,280...67,655,900
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P
LEPROT
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:146,974,641...146,987,261
Ensembl chr 6:146,974,639...146,987,242
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S
Leprot
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936692:2,840,461...2,850,756
Ensembl chrNW_004936692:2,840,332...2,894,726
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D
LEPROT
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:44,859,886...44,877,144
Ensembl chr 5:44,845,581...44,877,144
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B
LEPROT
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:64,668,316...64,682,016
Ensembl chr 1:66,556,116...66,571,584
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C
Leprot
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955423:25,250,873...25,265,437
Ensembl chrNW_004955423:25,250,879...25,265,437
G
R
Leprot
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:121,405,170...121,417,273
Ensembl chr 5:116,289,822...116,301,988
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M
Leprot
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:101,504,922...101,516,561
Ensembl chr 4:101,504,915...101,516,561
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H
LEPROT
leptin receptor overlapping transcript
IAGP
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:65,420,668...65,436,007
Ensembl chr 1:65,420,587...65,436,007
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LOC122094844
Sharpr-MPRA regulatory region 5730
IAGP
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:21393862 PMID:23760429 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31237021 PMID:33660144 PMID:34097736 More...
NCBI chr 1:65,615,946...65,616,240
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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N
Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chrNW_004624730:61,783,665...61,789,980
Ensembl chrNW_004624730:61,783,903...61,790,001
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G
CEP19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr15:90,514,147...90,519,580
Ensembl chr15:90,514,438...90,521,380
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P
CEP19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr13:133,420,017...133,428,394
Ensembl chr13:133,420,032...133,428,390
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S
Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chrNW_004936784:1,284,215...1,289,362
Ensembl chrNW_004936784:1,283,886...1,289,965
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D
CEP19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr33:29,733,860...29,740,836
Ensembl chr33:29,735,351...29,741,128
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B
CEP19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr 3:194,050,519...194,056,524
Ensembl chr 3:203,988,092...203,996,486
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C
Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chrNW_004955420:12,823,663...12,829,598
Ensembl chrNW_004955420:12,823,889...12,825,337
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R
Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr11:82,182,868...82,192,134
Ensembl chr11:68,677,871...68,687,022
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M
Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr16:31,918,618...31,926,875
Ensembl chr16:31,918,618...31,926,887
G
H
CEP19
centrosomal protein 19
IAGP
ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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