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: fibroma
Accession: DOID:0050871
browse the term
Definition: A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)
Synonyms: exact_synonym: Fibromyxoma; fibromas; fibromatoses; fibromatosis; fibromyxomas; myxofibroma; myxofibromas
narrow_synonym: Superficial Fibromatosis
primary_id: MESH:D005350
xref: EFO:0000497 ; EFO:0002424 ; EFO:1000148 ; EFO:1000556 ; ICDO:8810/0
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Antxr2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chrNW_004624757:10,972,976...11,123,103
Ensembl chrNW_004624757:10,972,692...11,125,898
G
G
ANTXR2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chr 7:28,345,849...28,499,818
Ensembl chr 7:28,375,899...28,499,522
G
P
ANTXR2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
G
S
Antxr2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200
G
D
ANTXR2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
G
B
ANTXR2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738
G
C
Antxr2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
G
R
Antxr2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707 PMID:14508707
RGD:1599125
NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,541,772...11,682,094
G
M
Antxr2
anthrax toxin receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707
RGD:1599125
NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
G
H
ANTXR2
ANTXR cell adhesion molecule 2
susceptibility
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707 PMID:14508707
RGD:1599125
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
G
N
Brf1
BRF1 general transcription factor IIIB subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chrNW_004624734:213,536...280,816
Ensembl chrNW_004624734:213,895...279,777
G
G
BRF1
BRF1 general transcription factor IIIB subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chr24:83,117,823...83,192,435
Ensembl chr24:83,117,685...83,192,431
G
P
BRF1
BRF1 RNA polymerase III transcription initiation factor subunit
ISO
RGD
PMID:18456653
RGD:9586716
G
S
Brf1
BRF1 general transcription factor IIIB subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chrNW_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040
G
D
BRF1
BRF1 RNA polymerase III transcription initiation factor subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263
G
B
BRF1
BRF1 general transcription factor IIIB subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
G
C
Brf1
BRF1 general transcription factor IIIB subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704
G
R
Brf1
BRF1 general transcription factor IIIB subunit
IMP
RGD
PMID:18456653
RGD:9586716
NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:132,037,272...132,081,278
G
M
Brf1
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324
G
H
BRF1
BRF1 general transcription factor IIIB subunit
ISO
RGD
PMID:18456653
RGD:9586716
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
G
N
Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chrNW_004624753:7,994,419...8,498,243
Ensembl chrNW_004624753:7,994,321...8,436,120
G
G
GRM1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr13:25,380,855...25,816,945
G
P
GRM1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
G
S
Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chrNW_004936625:91,229...468,242
Ensembl chrNW_004936625:90,299...466,395
G
D
GRM1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134
G
B
GRM1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
G
C
Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622
G
R
Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170
G
M
Grm1
glutamate receptor, metabotropic 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100
G
H
GRM1
glutamate metabotropic receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
G
G
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
G
P
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
G
S
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
G
D
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
G
B
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
G
C
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
G
R
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
M
Apc
APC, WNT signaling pathway regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
G
H
APC
APC regulator of WNT signaling pathway
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
G
G
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
G
P
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
G
S
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
G
D
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
G
B
APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
G
C
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
G
R
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
M
Apc
APC, WNT signaling pathway regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
G
H
APC
APC regulator of WNT signaling pathway
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
G
N
Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833
G
G
CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651
G
P
CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
G
S
Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
G
D
CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
G
B
CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
G
C
Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
G
R
Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
G
M
Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
G
H
CCN2
cellular communication network factor 2
IEP
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
G
N
Serpine1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337
G
G
SERPINE1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
G
P
SERPINE1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
S
Serpine1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
G
D
SERPINE1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
G
B
SERPINE1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
G
C
Serpine1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
G
R
Serpine1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
G
M
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
H
SERPINE1
serpin family E member 1
susceptibility
IAGP
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
N
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
G
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
G
P
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
G
S
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
G
D
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
G
B
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
C
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
R
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
G
M
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
H
TNF
tumor necrosis factor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
G
G
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
G
P
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
G
S
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
G
D
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
G
B
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
G
C
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
G
R
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
M
Apc
APC, WNT signaling pathway regulator
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
G
H
APC
APC regulator of WNT signaling pathway
IAGP EXP
ClinVar Annotator: match by term: Desmoid disease, hereditary ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation ClinVar Annotator: match by term: Fibromatosis, familial infiltrative CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
G
N
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
G
G
CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
G
P
CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
G
S
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
G
D
CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
G
B
CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
G
C
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
G
R
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
M
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
G
H
CTNNB1
catenin beta 1
IAGP
ClinVar Annotator: match by term: Desmoid disease, hereditary ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
G
H
LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Desmoid disease, hereditary ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 3:41,224,408...41,225,607
G
H
LOC129994371
ATAC-STARR-seq lymphoblastoid active region 22910
IAGP
ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:112,707,478...112,707,537
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
B3galt2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chrNW_004624814:375,039...382,732
Ensembl chrNW_004624814:375,040...381,702
G
G
B3GALT2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr25:36,234,882...36,246,827
Ensembl chr25:36,241,631...36,242,899
G
P
B3GALT2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr10:613,464...623,587
Ensembl chr10:613,608...624,131
G
S
B3galt2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chrNW_004936638:1,424,641...1,434,266
Ensembl chrNW_004936638:1,426,044...1,433,660
G
D
B3GALT2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr38:5,868,822...5,876,539
Ensembl chr38:5,874,011...5,875,279
G
B
B3GALT2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683
G
C
B3galt2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
G
R
B3galt2
Beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr13:57,939,724...57,948,735
Ensembl chr13:55,389,406...55,398,419
G
M
B3galt2
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr 1:143,516,435...143,525,675
Ensembl chr 1:143,516,402...143,530,352
G
H
B3GALT2
beta-1,3-galactosyltransferase 2
IAGP
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613
G
N
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391
G
G
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812
G
P
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
G
S
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chrNW_004936638:1,365,457...1,482,497
Ensembl chrNW_004936638:1,365,648...1,483,277
G
D
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111
G
B
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
G
C
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
G
R
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
G
M
Cdc73
cell division cycle 73, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631
G
H
CDC73
cell division cycle 73
IAGP EXP
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
H
LOC126807054
BRD4-independent group 4 enhancer GRCh37_chr4:55147260-55148459
IAGP
ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ClinVar Annotator: match by term: PDGFRA-related condition
ClinVar
PMID:24728327 PMID:25741868 PMID:35101336
NCBI chr 4:54,281,093...54,282,292
G
N
Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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
IAGP
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391
G
G
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812
G
P
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
G
S
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chrNW_004936638:1,365,457...1,482,497
Ensembl chrNW_004936638:1,365,648...1,483,277
G
D
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111
G
B
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
G
C
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
G
R
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
G
M
Cdc73
cell division cycle 73, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631
G
H
CDC73
cell division cycle 73
IAGP
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Nab2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chrNW_004624802:10,847,728...10,852,002
Ensembl chrNW_004624802:10,847,394...10,852,963
G
G
NAB2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr11:52,998,467...53,005,053
Ensembl chr11:53,000,822...53,004,296
G
P
NAB2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 5:22,400,275...22,406,424
Ensembl chr 5:22,400,277...22,406,419
G
S
Nab2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chrNW_004936646:1,291,251...1,297,463
Ensembl chrNW_004936646:1,291,446...1,299,118
G
D
NAB2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr10:1,226,626...1,232,575
Ensembl chr10:1,226,415...1,231,810
G
B
NAB2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
Ensembl chr12:32,085,031...32,091,498
G
C
Nab2
NGFI-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chrNW_004955458:4,826,464...4,832,487
Ensembl chrNW_004955458:4,826,458...4,832,487
G
R
Nab2
Ngfi-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:65,382,863...65,389,527
Ensembl chr 7:63,497,589...63,503,989
G
M
Nab2
Ngfi-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr10:127,496,787...127,502,572
Ensembl chr10:127,496,787...127,504,437
G
H
NAB2
NGFI-A binding protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476
G
N
Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693
G
G
STAT6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr11:53,005,378...53,020,899
Ensembl chr11:53,006,145...53,021,203
G
P
STAT6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
G
S
Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157
G
D
STAT6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
G
B
STAT6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
Ensembl chr12:32,068,679...32,085,099
G
C
Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273
G
R
Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495
G
M
Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
G
H
STAT6
signal transducer and activator of transcription 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877
G
G
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr19:22,823,447...22,907,942
Ensembl chr19:22,823,937...22,898,476
G
P
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429
G
S
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
G
D
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393
G
B
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
G
C
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546
G
R
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:112,252,359...112,461,790
G
M
Tnrc6b
trinucleotide repeat containing 6b
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr15:80,595,514...80,825,287
Ensembl chr15:80,595,514...80,825,286
G
H
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
IAGP
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883
G
G
ADA
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr 2:19,167,209...19,200,233
G
P
ADA
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
G
S
Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chrNW_004936530:2,217,713...2,224,070
G
D
ADA
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
G
B
ADA
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
G
C
Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
G
R
Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
G
M
Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
G
H
ADA
adenosine deaminase
susceptibility
IAGP
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
G
N
Bet1l
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004624766:22,240,960...22,245,040
Ensembl chrNW_004624766:22,240,972...22,245,040
G
G
BET1L
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 1:14,423...18,444
Ensembl chr 1:15,562...17,569
G
P
BET1L
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 2:26,475...31,960
Ensembl chr 2:26,478...30,574
G
S
Bet1l
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004936888:42,646...56,589
Ensembl chrNW_004936888:52,019...56,776
G
D
BET1L
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299
G
B
BET1L
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762
G
C
Bet1l
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004955476:11,833,595...11,836,411
Ensembl chrNW_004955476:11,833,595...11,836,411
G
R
Bet1l
Bet1 golgi vesicular membrane trafficking protein-like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 1:205,361,041...205,365,036
Ensembl chr 1:195,931,411...195,935,040
G
M
Bet1l
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:140,433,297...140,437,306
Ensembl chr 7:140,433,307...140,437,490
G
H
BET1L
Bet1 golgi vesicular membrane trafficking protein like
IAGP
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr11:202,924...207,399
Ensembl chr11:167,784...207,399
G
N
Col4a1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817
G
G
COL4A1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057
G
P
COL4A1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322
G
S
Col4a1
collagen type IV alpha 1 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814
G
D
COL4A1
collagen type IV alpha 1 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
G
B
COL4A1
collagen type IV alpha 1 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
G
C
Col4a1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
G
R
Col4a1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
G
M
Col4a1
collagen, type IV, alpha 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
G
H
COL4A1
collagen type IV alpha 1 chain
IAGP IEP
DNA:hypomethylation:uterus (human) mRNA:increased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
G
N
Col4a2
collagen type IV alpha 2 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004624793:2,201,815...2,325,002
Ensembl chrNW_004624793:2,202,244...2,324,507
G
G
COL4A2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411
G
P
COL4A2
collagen type IV alpha 2 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614
G
S
Col4a2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349
G
D
COL4A2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297
G
B
COL4A2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
G
C
Col4a2
collagen type IV alpha 2 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079
G
R
Col4a2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839
G
M
Col4a2
collagen, type IV, alpha 2
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
G
H
COL4A2
collagen type IV alpha 2 chain
IAGP IEP
DNA:hypomethylation:uterus (human) mRNA:increased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
G
N
Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004624847:2,786,560...2,863,800
Ensembl chrNW_004624847:2,787,319...2,863,853
G
G
COL6A3
collagen type VI alpha 3 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr10:123,326,337...123,418,836
Ensembl chr10:123,327,102...123,400,114
G
P
COL6A3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
G
S
Col6a3
collagen type VI alpha 3 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377
G
D
COL6A3
collagen type VI alpha 3 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
G
B
COL6A3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr2B:124,554,478...124,644,482
G
C
Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062
G
R
Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
G
M
Col6a3
collagen, type VI, alpha 3
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693
G
H
COL6A3
collagen type VI alpha 3 chain
IAGP IEP
DNA:hypomethylation:uterus (human) mRNA:increased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
G
N
Dapk1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208
G
G
DAPK1
death associated protein kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr12:98,118,948...98,330,435
Ensembl chr12:98,118,603...98,330,471
G
P
DAPK1
death associated protein kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350
G
S
Dapk1
death associated protein kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058
G
D
DAPK1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822
G
B
DAPK1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
G
C
Dapk1
death associated protein kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004955432:29,925...254,327
Ensembl chrNW_004955432:29,197...254,379
G
R
Dapk1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991
G
M
Dapk1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005
G
H
DAPK1
death associated protein kinase 1
IAGP IEP
DNA:hypermethylation:uterus (human) mRNA:decreased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634
G
N
Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684
G
G
DLX3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095
G
P
DLX3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
G
S
Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131
G
D
DLX3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
G
B
DLX3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848
G
C
Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094
G
R
Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,064,489...80,069,872
G
M
Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122
G
H
DLX3
distal-less homeobox 3
IAGP
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
G
N
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066
G
G
FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr25:78,576,931...78,599,998
Ensembl chr25:78,575,300...78,599,972
G
P
FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824
G
S
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367
G
D
FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412
G
B
FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
G
C
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
G
R
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266
G
H
FH
fumarate hydratase
IAGP
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
G
M
Fh1
fumarate hydratase 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201
G
B
GSTM5
glutathione S-transferase mu 5
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411
G
H
GSTM5
glutathione S-transferase mu 5
IAGP IEP
DNA:hypermethylation:uterus (human) mRNA:decreased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr 1:109,711,751...109,718,268
Ensembl chr 1:109,711,780...109,775,428
G
R
Gstm5l
glutathione S-transferase, mu 5-like
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 2:198,231,285...198,238,122
Ensembl chr 2:195,544,426...195,628,961
G
N
Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chrNW_004624802:2,337,344...2,468,757
Ensembl chrNW_004624802:2,337,464...2,467,990
G
G
HMGA2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr11:61,509,114...61,655,633
G
P
HMGA2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr 5:30,188,521...30,329,635
G
S
Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chrNW_004936545:3,944,419...3,958,289
Ensembl chrNW_004936545:3,944,419...4,064,193
G
D
HMGA2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr10:8,348,101...8,491,435
G
B
HMGA2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr12:22,954,946...23,096,623
G
C
Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chrNW_004955458:12,493,790...12,624,805
G
R
Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:55,880,112...55,994,784
G
M
Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr10:120,197,173...120,312,374
Ensembl chr10:120,197,180...120,312,374
G
H
HMGA2
high mobility group AT-hook 2
IAGP
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
G
N
Irs1
insulin receptor substrate 1
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859
G
G
IRS1
insulin receptor substrate 1
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr10:112,748,283...112,812,368
G
P
IRS1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284
G
S
Irs1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635
G
D
IRS1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr25:39,624,554...39,687,991
G
B
IRS1
insulin receptor substrate 1
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
G
C
Irs1
insulin receptor substrate 1
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
G
R
Irs1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
G
M
Irs1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
G
H
IRS1
insulin receptor substrate 1
IAGP IEP
DNA:hypomethylation:uterus (human) mRNA:increased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
G
G
LOC103224277
glutathione S-transferase Mu 5
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr20:23,839,722...23,845,771
G
N
Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474
G
G
MED12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677
G
P
MED12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333
G
S
Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
G
D
MED12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992
G
B
MED12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
G
C
Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
G
R
Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
G
M
Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071
G
H
MED12
mediator complex subunit 12
IAGP
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
G
N
Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chrNW_004624812:5,834,367...6,812,623
Ensembl chrNW_004624812:5,834,748...6,812,837
G
G
NTM
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 1:122,405,280...123,378,287
Ensembl chr 1:123,182,630...123,379,429
G
P
NTM
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 9:57,965,751...58,967,534
Ensembl chr 9:58,743,504...58,968,355
G
S
Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chrNW_004936572:165,985...1,110,936
Ensembl chrNW_004936572:165,987...1,110,587
G
D
NTM
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 5:2,725,902...3,658,635
Ensembl chr 5:2,725,943...3,658,311
G
B
NTM
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876
G
C
Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chrNW_004955412:32,779,245...33,194,093
Ensembl chrNW_004955412:32,227,794...33,195,101
G
R
Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 8:35,634,929...36,625,081
Ensembl chr 8:27,377,773...28,366,595
G
M
Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 9:28,906,045...29,874,565
Ensembl chr 9:28,906,046...29,874,437
G
H
NTM
neurotrimin
treatment
IEP
RGD
PMID:32033718
RGD:596948395
NCBI chr11:131,370,615...132,336,822
Ensembl chr11:131,370,478...132,336,822
G
N
Nuak1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004624750:3,141,442...3,197,821
Ensembl chrNW_004624750:3,141,441...3,197,514
G
G
NUAK1
NUAK family kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr11:101,282,483...101,362,618
Ensembl chr11:101,282,347...101,360,602
G
P
NUAK1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 5:14,089,584...14,177,584
Ensembl chr 5:14,102,006...14,177,584
G
S
Nuak1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936492:8,710,039...8,774,870
Ensembl chrNW_004936492:8,710,039...8,775,112
G
D
NUAK1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr10:32,463,845...32,537,425
Ensembl chr10:32,464,123...32,536,650
G
B
NUAK1
NUAK family kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163
G
C
Nuak1
NUAK family kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004955405:40,156,316...40,188,144
Ensembl chrNW_004955405:40,153,747...40,188,145
G
R
Nuak1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:19,329,933...19,401,913
G
M
Nuak1
NUAK family, SNF1-like kinase, 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461
G
H
NUAK1
NUAK family kinase 1
IAGP IEP
DNA:hypermethylation:uterus (human) mRNA:decreased expression:uterus (human)
RGD
PMID:23818951 PMID:23818951
RGD:401851920 , RGD:401851920
NCBI chr12:106,063,345...106,138,954
Ensembl chr12:106,063,345...106,138,954
G
N
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389
G
G
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
G
P
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
G
S
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
G
D
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
G
B
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
G
C
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
G
R
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
G
M
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
G
H
PTCH1
patched 1
IAGP
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
G
N
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877
G
G
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr19:22,823,447...22,907,942
Ensembl chr19:22,823,937...22,898,476
G
P
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429
G
S
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
G
D
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393
G
B
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
G
C
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546
G
R
Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:112,252,359...112,461,790
G
M
Tnrc6b
trinucleotide repeat containing 6b
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr15:80,595,514...80,825,287
Ensembl chr15:80,595,514...80,825,286
G
H
TNRC6B
trinucleotide repeat containing adaptor 6B
severity
IAGP
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
G
N
Tsc2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953
G
G
TSC2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
G
P
TSC2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
G
S
Tsc2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
G
D
TSC2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
G
B
TSC2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
G
C
Tsc2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
G
R
Tsc2
TSC complex subunit 2
ISS
OMIM:150699
MouseDO
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
G
M
Tsc2
TSC complex subunit 2
IAGP
OMIM:150699
MouseDO
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
G
H
TSC2
TSC complex subunit 2
ISS
OMIM:150699
MouseDO
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Bcl2l1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
G
G
BCL2L1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470
G
P
BCL2L1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
G
S
Bcl2l1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chrNW_004936485:18,654,046...18,707,324
G
D
BCL2L1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
G
B
BCL2L1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
G
C
Bcl2l1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
G
R
Bcl2l1
Bcl2-like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
G
M
Bcl2l1
BCL2-like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
G
H
BCL2L1
BCL2 like 1
IEP
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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