Term: Headache
Accession: HP:0002315
browse the term
Definition: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition.
Synonyms: exact_synonym: Headaches
alt_id: HP:0000266; HP:0001354
xref: MESH:D006261 ; SNOMEDCT_US:25064002; UMLS:C0018681
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ACP5
acid phosphatase 5, tartrate resistant
IAGP
HPO
ORPHA:1855
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ACTA1
actin alpha 1, skeletal muscle
IAGP
HPO
ORPHA:2020
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ACTN4
actinin alpha 4
IAGP
HPO
ORPHA:656
NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
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ADA2
adenosine deaminase 2
IAGP
HPO
OMIM:182410 OMIM:615688
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADAR
adenosine deaminase RNA specific
IAGP
HPO
ORPHA:51
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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ADRA2B
adrenoceptor alpha 2B
IAGP
HPO
ORPHA:86814
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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AIP
aryl hydrocarbon receptor interacting protein
IAGP
HPO
ORPHA:2965
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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AKT1
AKT serine/threonine kinase 1
IAGP
HPO
ORPHA:2495
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALX4
ALX homeobox 4
IAGP
HPO
ORPHA:60015
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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AMER1
APC membrane recruitment protein 1
IAGP
HPO
OMIM:300373
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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ANKFY1
ankyrin repeat and FYVE domain containing 1
IAGP
HPO
ORPHA:656
NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995
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ANLN
anillin, actin binding protein
IAGP
HPO
ORPHA:656
NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
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AP2S1
adaptor related protein complex 2 subunit sigma 1
IAGP
HPO
OMIM:600740
NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846
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APC
APC regulator of WNT signaling pathway
IAGP
HPO
ORPHA:99818
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOL1
apolipoprotein L1
IAGP
HPO
ORPHA:656
NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
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APP
amyloid beta precursor protein
IAGP
HPO
ORPHA:100006
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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ARHGAP24
Rho GTPase activating protein 24
IAGP
HPO
ORPHA:656
NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
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ARHGDIA
Rho GDP dissociation inhibitor alpha
IAGP
HPO
ORPHA:656
NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
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ASXL1
ASXL transcriptional regulator 1
IAGP
HPO
ORPHA:98849
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
IAGP
HPO
OMIM:104290 ORPHA:2131
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
IAGP
HPO
ORPHA:2131
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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ATRX
ATRX chromatin remodeler
IAGP
HPO
ORPHA:96253
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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BAP1
BRCA1 associated protein 1
IAGP
HPO
ORPHA:2495
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BCAT2
branched chain amino acid transaminase 2
IAGP
HPO
OMIM:618850
NCBI chr19:48,795,064...48,811,029
Ensembl chr19:48,795,062...48,811,029
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
HPO
ORPHA:54595 ORPHA:96253
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRCA2
BRCA2 DNA repair associated
IAGP
ClinVar Annotator: match by term: Headache
ClinVar
PMID:15070707 PMID:16030099 PMID:16758124 PMID:17020472 PMID:18783588 PMID:20104584 PMID:20960228 PMID:21232165 PMID:21553119 PMID:21918853 PMID:22430266 PMID:22460208 PMID:22923021 PMID:23479189 PMID:24033266 PMID:25741868 PMID:26026974 PMID:26295337 PMID:26350514 PMID:26467025 PMID:27276934 PMID:28184943 PMID:28477318 PMID:28492532 PMID:28503720 PMID:29084914 PMID:29446198 PMID:29560538 PMID:30274973 PMID:30322717 PMID:30720863 PMID:32427313 PMID:33471991 PMID:34290354 PMID:34449592 PMID:34645131 PMID:34933735 More...
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
IAGP
HPO
ORPHA:2131
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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CACNA1D
calcium voltage-gated channel subunit alpha1 D
IAGP
HPO
ORPHA:369929
NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
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CALR
calreticulin
IAGP
HPO
ORPHA:3318
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CASP10
caspase 10
IAGP
HPO
ORPHA:3261
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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CCM2
CCM2 scaffold protein
IAGP
HPO
OMIM:603284 ORPHA:221061
NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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CCND1
cyclin D1
IAGP
HPO
ORPHA:892
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CD209
CD209 molecule
IAGP
DNA:SNP:promoter:-336A>G SNP (rs4804803) (human)
RGD
PMID:24797508
RGD:39939060
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CD2AP
CD2 associated protein
IAGP
HPO
ORPHA:656
NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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CD46
CD46 molecule
IAGP
HPO
ORPHA:244242
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CDC73
cell division cycle 73
IAGP
HPO
ORPHA:143 ORPHA:99880
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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CDH23
cadherin related 23
IAGP
HPO
ORPHA:2965 ORPHA:91347 ORPHA:96253
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDKN1A
cyclin dependent kinase inhibitor 1A
IAGP
HPO
ORPHA:652
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
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CDKN1B
cyclin dependent kinase inhibitor 1B
IAGP
HPO
ORPHA:652
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CDKN2B
cyclin dependent kinase inhibitor 2B
IAGP
HPO
ORPHA:652
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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CDKN2C
cyclin dependent kinase inhibitor 2C
IAGP
HPO
ORPHA:652
NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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CFH
complement factor H
IAGP
HPO
ORPHA:244242
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CFI
complement factor I
IAGP
HPO
ORPHA:244242
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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CLCN2
chloride voltage-gated channel 2
IAGP
HPO
OMIM:615651 ORPHA:404
NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
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CLCNKB
chloride voltage-gated channel Kb
IAGP
HPO
ORPHA:358
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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CNNM2
cyclin and CBS domain divalent metal cation transport mediator 2
IAGP
HPO
OMIM:613882
NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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CNTN2
contactin 2
IAGP
HPO
ORPHA:86814
NCBI chr 1:205,042,949...205,078,289
Ensembl chr 1:205,042,937...205,078,289
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COL1A1
collagen type I alpha 1 chain
IAGP
HPO
ORPHA:287
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL4A3
collagen type IV alpha 3 chain
IAGP
HPO
ORPHA:656
NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
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COL5A1
collagen type V alpha 1 chain
IAGP
HPO
ORPHA:287
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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COL5A2
collagen type V alpha 2 chain
IAGP
HPO
ORPHA:287
NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
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COQ8B
coenzyme Q8B
IAGP
HPO
ORPHA:656
NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
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CORIN
corin, serine peptidase
IAGP
HPO
ORPHA:275555
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
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CPT2
carnitine palmitoyltransferase 2
IAGP
HPO
ORPHA:228305
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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CRB2
crumbs cell polarity complex component 2
IAGP
HPO
ORPHA:656
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
HPO
ORPHA:900
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CTNNB1
catenin beta 1
IAGP
HPO
ORPHA:54595
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CTNND2
catenin delta 2
IAGP
HPO
ORPHA:86814
NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
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CYB5R3
cytochrome b5 reductase 3
IAGP
HPO
OMIM:250800
NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870
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CYP11B1
cytochrome P450 family 11 subfamily B member 1
IAGP
HPO
ORPHA:403
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
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CYP11B2
cytochrome P450 family 11 subfamily B member 2
IAGP
HPO
ORPHA:403
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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DAAM2
dishevelled associated activator of morphogenesis 2
IAGP
HPO
ORPHA:656
NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877
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DKK1
dickkopf WNT signaling pathway inhibitor 1
IAGP
HPO
ORPHA:268882
NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042
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DNAI1
dynein axonemal intermediate chain 1
IAGP
HPO
OMIM:244400
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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ELANE
elastase, neutrophil expressed
IAGP
HPO
ORPHA:2686
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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EMP2
epithelial membrane protein 2
IAGP
HPO
ORPHA:656
NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632
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EPHB4
EPH receptor B4
IAGP
HPO
ORPHA:137667
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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EPM2A
EPM2A glucan phosphatase, laforin
IAGP
HPO
ORPHA:501
NCBI chr 6:145,383,353...145,736,023
Ensembl chr 6:145,382,535...145,736,023
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EPOR
erythropoietin receptor
IAGP
HPO
OMIM:133100 ORPHA:90042
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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ERF
ETS2 repressor factor
IAGP
HPO
ORPHA:207
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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F8
coagulation factor VIII
IAGP
HPO
ORPHA:169802 ORPHA:169805
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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FARSB
phenylalanyl-tRNA synthetase subunit beta
IAGP
HPO
OMIM:613658
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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FAS
Fas cell surface death receptor
IAGP
HPO
ORPHA:3261
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
IAGP
HPO
ORPHA:3261
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FGFR2
fibroblast growth factor receptor 2
IAGP
HPO
ORPHA:207
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FKRP
fukutin related protein
IAGP
ClinVar Annotator: match by term: Headache
ClinVar
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404 More...
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FLI1
Fli-1 proto-oncogene, ETS transcription factor
IAGP
HPO
ORPHA:370348
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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FLT1
fms related receptor tyrosine kinase 1
IAGP
HPO
ORPHA:275555
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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GAPVD1
GTPase activating protein and VPS9 domains 1
IAGP
HPO
ORPHA:656
NCBI chr 9:125,261,826...125,367,207
Ensembl chr 9:125,261,794...125,367,207
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GBA1
glucosylceramidase beta 1
IAGP
HPO
ORPHA:2072
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GCDH
glutaryl-CoA dehydrogenase
IAGP
HPO
ORPHA:25
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
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GNB2
G protein subunit beta 2
IAGP
HPO
OMIM:619503
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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GPR101
G protein-coupled receptor 101
IAGP
HPO
OMIM:300942
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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HACD1
3-hydroxyacyl-CoA dehydratase 1
IAGP
HPO
ORPHA:2020
NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
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HELLPAR
HELLP associated long non-coding RNA
IAGP
HPO
ORPHA:244242
Ensembl chr12:102,197,585...102,402,596
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HLA-B
major histocompatibility complex, class I, B
IAGP
HPO
ORPHA:397
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DPA1
major histocompatibility complex, class II, DP alpha 1
IAGP
HPO
ORPHA:900
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
IAGP
HPO
ORPHA:900
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
HPO
ORPHA:397
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HTRA1
HtrA serine peptidase 1
IAGP
HPO
OMIM:616779
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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IFIH1
interferon induced with helicase C domain 1
IAGP
HPO
ORPHA:51
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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INF2
inverted formin 2
IAGP
HPO
ORPHA:656
NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
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IRAK1
interleukin 1 receptor associated kinase 1
IAGP
HPO
ORPHA:93552
NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902
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IRF3
interferon regulatory factor 3
IAGP
HPO
OMIM:616532
NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
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ITGA7
integrin subunit alpha 7
IAGP
HPO
ORPHA:2020
NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
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JAK2
Janus kinase 2
IAGP
HPO
OMIM:133100 ORPHA:3318 ORPHA:71493 ORPHA:729
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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KCNA1
potassium voltage-gated channel subfamily A member 1
IAGP
HPO
OMIM:160120 ORPHA:37612
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KCNJ5
potassium inwardly rectifying channel subfamily J member 5
IAGP
HPO
ORPHA:251274
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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KCNQ2
potassium voltage-gated channel subfamily Q member 2
IAGP
HPO
ORPHA:140927
NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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KIF23
kinesin family member 23
IAGP
HPO
ORPHA:98870
NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427
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KIT
KIT proto-oncogene, receptor tyrosine kinase
IAGP
HPO
ORPHA:79455 ORPHA:98849
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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KL
klotho
IAGP
HPO
OMIM:617994
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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KRIT1
KRIT1 ankyrin repeat containing
IAGP
HPO
OMIM:116860 ORPHA:221061
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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KYNU
kynureninase
IAGP
HPO
ORPHA:79155
NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
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LIG3
DNA ligase 3
IAGP
HPO
OMIM:619780
NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743
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LPIN2
lipin 2
IAGP
HPO
ORPHA:77297
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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LRP5
LDL receptor related protein 5
IAGP
HPO
OMIM:607634 ORPHA:178377
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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LSM11
LSM11, U7 small nuclear RNA associated
IAGP
HPO
ORPHA:51
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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LYN
LYN proto-oncogene, Src family tyrosine kinase
IAGP
HPO
OMIM:620376
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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MAGI2
membrane associated guanylate kinase, WW and PDZ domain containing 2
IAGP
HPO
ORPHA:656
NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667
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MAOA
monoamine oxidase A
IAGP
HPO
OMIM:300615
NCBI chr X:43,655,006...43,746,817
Ensembl chr X:43,654,907...43,746,817
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MAP3K20
mitogen-activated protein kinase kinase kinase 20
IAGP
HPO
ORPHA:2020
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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MARCHF6
membrane associated ring-CH-type finger 6
IAGP
HPO
ORPHA:86814
NCBI chr 5:10,353,695...10,440,388
Ensembl chr 5:10,353,695...10,440,388
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MCAT
malonyl-CoA-acyl carrier protein transacylase
IAGP
HPO
OMIM:620583
NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398
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MECR
mitochondrial trans-2-enoyl-CoA reductase
IAGP
HPO
OMIM:620629 ORPHA:508093
NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
HPO
OMIM:249100
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MEN1
menin 1
IAGP
HPO
ORPHA:2965 ORPHA:652
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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MPL
MPL proto-oncogene, thrombopoietin receptor
IAGP
HPO
ORPHA:3318 ORPHA:71493 ORPHA:729
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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MRPS2
mitochondrial ribosomal protein S2
IAGP
HPO
OMIM:617950
NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673
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MSX2
msh homeobox 2
IAGP
HPO
OMIM:168500 OMIM:604757 ORPHA:60015
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
IAGP
HPO
ORPHA:644
NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
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MTHFR
methylenetetrahydrofolate reductase
IAGP
HPO
ORPHA:395
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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MVK
mevalonate kinase
IAGP
HPO
OMIM:260920
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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MYL2
myosin light chain 2
IAGP
HPO
ORPHA:2020
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
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MYO1E
myosin IE
IAGP
HPO
ORPHA:656
NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
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NAGS
N-acetylglutamate synthase
IAGP
HPO
ORPHA:927
NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:363700 ORPHA:97685
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
IAGP
HPO
OMIM:101000 ORPHA:2495
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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NFE2L2
NFE2 like bZIP transcription factor 2
IAGP
HPO
OMIM:617744
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NHLRC1
NHL repeat containing E3 ubiquitin protein ligase 1
IAGP
HPO
ORPHA:501
NCBI chr 6:18,120,440...18,122,677
Ensembl chr 6:18,120,440...18,122,677
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NLRP12
NLR family pyrin domain containing 12
IAGP
HPO
OMIM:611762
NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403
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NLRP3
NLR family pyrin domain containing 3
IAGP
HPO
OMIM:120100 OMIM:617772 ORPHA:47045
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOS3
nitric oxide synthase 3
IAGP
associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C
RGD
PMID:16123422
RGD:7771539
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOTCH2
notch receptor 2
IAGP
HPO
ORPHA:955
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NPC1
NPC intracellular cholesterol transporter 1
IAGP
ClinVar Annotator: match by term: Headache
ClinVar
PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:15937921 PMID:16086131 PMID:16098014 PMID:20301473 PMID:20554533 PMID:23183285 PMID:23427322 PMID:23773996 PMID:23791518 PMID:25236789 PMID:25349751 PMID:25425405 PMID:25741868 PMID:26666848 PMID:26981555 PMID:28492532 PMID:32138288 PMID:32248828 More...
NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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NPHS1
NPHS1 adhesion molecule, nephrin
IAGP
HPO
ORPHA:656
NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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NPHS2
NPHS2 stomatin family member, podocin
IAGP
HPO
ORPHA:656
NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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NPPA
natriuretic peptide A
IAGP
HPO
ORPHA:1344
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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NR3C1
nuclear receptor subfamily 3 group C member 1
IAGP
HPO
ORPHA:96253
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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NUP107
nucleoporin 107
IAGP
HPO
ORPHA:656
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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NUP133
nucleoporin 133
IAGP
HPO
ORPHA:656
NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
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NUP160
nucleoporin 160
IAGP
HPO
ORPHA:656
NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555
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NUP205
nucleoporin 205
IAGP
HPO
ORPHA:656
NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
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NUP37
nucleoporin 37
IAGP
HPO
ORPHA:656
NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120
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NUP85
nucleoporin 85
IAGP
HPO
ORPHA:656
NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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NUP93
nucleoporin 93
IAGP
HPO
ORPHA:656
NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
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P4HA2
prolyl 4-hydroxylase subunit alpha 2
IAGP
HPO
ORPHA:397
NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
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PAX2
paired box 2
IAGP
HPO
ORPHA:656
NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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PDCD10
programmed cell death 10
IAGP
HPO
OMIM:603285 ORPHA:221061
NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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PDGFB
platelet derived growth factor subunit B
IAGP
HPO
ORPHA:2495
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PIGA
phosphatidylinositol glycan anchor biosynthesis class A
IAGP
HPO
ORPHA:447
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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PIGT
phosphatidylinositol glycan anchor biosynthesis class T
IAGP
HPO
OMIM:615399
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
HPO
ORPHA:221061 ORPHA:2495
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PLCE1
phospholipase C epsilon 1
IAGP
HPO
ORPHA:656
NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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POLG
DNA polymerase gamma, catalytic subunit
IAGP
HPO
ORPHA:94125
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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POLG2
DNA polymerase gamma 2, accessory subunit
IAGP
HPO
OMIM:619425
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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PRKCD
protein kinase C delta
IAGP
HPO
ORPHA:3261
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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PRORP
protein only RNase P catalytic subunit
IAGP
HPO
OMIM:619737
NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622
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PRTN3
proteinase 3
IAGP
HPO
ORPHA:900
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTEN
phosphatase and tensin homolog
IAGP
HPO
ORPHA:65285
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTPN22
protein tyrosine phosphatase non-receptor type 22
IAGP
HPO
ORPHA:397 ORPHA:900
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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PTPRO
protein tyrosine phosphatase receptor type O
IAGP
HPO
ORPHA:656
NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175
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RACGAP1
Rac GTPase activating protein 1
IAGP
HPO
ORPHA:98870
NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136
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RASA1
RAS p21 protein activator 1
IAGP
HPO
ORPHA:137667 ORPHA:90307
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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RASGRP1
RAS guanyl releasing protein 1
IAGP
HPO
ORPHA:3261
NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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RET
ret proto-oncogene
IAGP
HPO
OMIM:171400
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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RNASEH2A
ribonuclease H2 subunit A
IAGP
HPO
ORPHA:51
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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RNASEH2B
ribonuclease H2 subunit B
IAGP
HPO
ORPHA:51
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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RNASEH2C
ribonuclease H2 subunit C
IAGP
HPO
ORPHA:51
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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RNF168
ring finger protein 168
IAGP
HPO
ORPHA:420741
NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
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RNU7-1
RNA, U7 small nuclear 1
IAGP
HPO
ORPHA:51
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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RYR1
ryanodine receptor 1
IAGP
HPO
ORPHA:466650
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SAMD12
sterile alpha motif domain containing 12
IAGP
HPO
ORPHA:86814
NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
IAGP
HPO
ORPHA:51
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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SAT1
spermidine/spermine N1-acetyltransferase 1
IAGP
HPO
ORPHA:93552
NCBI chr X:23,783,173...23,786,210
Ensembl chr X:23,783,173...23,786,210
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SCN2A
sodium voltage-gated channel alpha subunit 2
IAGP
HPO
ORPHA:140927
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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SCN5A
sodium voltage-gated channel alpha subunit 5
IAGP
HPO
ORPHA:1344
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
HPO
OMIM:619259
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SELENON
selenoprotein N
IAGP
HPO
ORPHA:2020
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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SH2B3
SH2B adaptor protein 3
IAGP
HPO
OMIM:133100 ORPHA:3318
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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SLC12A3
solute carrier family 12 member 3
IAGP
HPO
ORPHA:358
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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SLC19A2
solute carrier family 19 member 2
IAGP
HPO
ORPHA:49827
NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
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SLC1A3
solute carrier family 1 member 3
IAGP
HPO
ORPHA:209967 ORPHA:2131
NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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SLC25A4
solute carrier family 25 member 4
IAGP
HPO
OMIM:615418
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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SLC2A1
solute carrier family 2 member 1
IAGP
HPO
OMIM:601042 ORPHA:53583 ORPHA:71277
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC39A14
solute carrier family 39 member 14
IAGP
HPO
OMIM:144755
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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SMAD3
SMAD family member 3
IAGP
HPO
ORPHA:284984
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
IAGP
HPO
ORPHA:1830
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IAGP
HPO
ORPHA:2495
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
IAGP
HPO
ORPHA:2495
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMO
smoothened, frizzled class receptor
IAGP
HPO
ORPHA:2495
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SOST
sclerostin
IAGP
HPO
OMIM:122860 OMIM:269500
NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791
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SPP1
secreted phosphoprotein 1
IAGP
HPO
ORPHA:93552
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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SRSF2
serine and arginine rich splicing factor 2
IAGP
HPO
ORPHA:98849
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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STAT4
signal transducer and activator of transcription 4
IAGP
HPO
ORPHA:93552
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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STOX1
storkhead box 1
IAGP
HPO
ORPHA:275555
NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
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SUFU
SUFU negative regulator of hedgehog signaling
IAGP
HPO
ORPHA:2495
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TBC1D8B
TBC1 domain family member 8B
IAGP
HPO
ORPHA:656
NCBI chr X:106,802,673...106,876,150
Ensembl chr X:106,802,673...106,876,150
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TBK1
TANK binding kinase 1
IAGP
HPO
ORPHA:1930
NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
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TERT
telomerase reverse transcriptase
IAGP
HPO
ORPHA:2495
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TET2
tet methylcytosine dioxygenase 2
IAGP
HPO
ORPHA:3318 ORPHA:729 ORPHA:98849
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TGFB1
transforming growth factor beta 1
IAGP
HPO
OMIM:131300
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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THPO
thrombopoietin
IAGP
HPO
ORPHA:71493
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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TICAM1
TIR domain containing adaptor molecule 1
IAGP
HPO
ORPHA:1930
NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
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TLR3
toll like receptor 3
IAGP
HPO
ORPHA:1930
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TLR7
toll like receptor 7
IAGP
HPO
OMIM:301080
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TNFRSF11A
TNF receptor superfamily member 11a
IAGP
HPO
OMIM:602080
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TNFRSF1A
TNF receptor superfamily member 1A
IAGP
HPO
OMIM:142680
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TP53
tumor protein p53
IAGP
HPO
OMIM:260500 ORPHA:3318 ORPHA:96253
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TPM2
tropomyosin 2
IAGP
HPO
ORPHA:2020
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TPM3
tropomyosin 3
IAGP
HPO
ORPHA:2020
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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TRAF3
TNF receptor associated factor 3
IAGP
HPO
ORPHA:1930
NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
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TRAF7
TNF receptor associated factor 7
IAGP
HPO
ORPHA:2495
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRANK1
tetratricopeptide repeat and ankyrin repeat containing 1
IAGP
HPO
ORPHA:33543
NCBI chr 3:36,826,819...36,945,744
Ensembl chr 3:36,826,819...36,945,057
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TREX1
three prime repair exonuclease 1
IAGP
HPO
ORPHA:51
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TRPC6
transient receptor potential cation channel subfamily C member 6
IAGP
HPO
ORPHA:656
NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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TRPV1
transient receptor potential cation channel subfamily V member 1
IAGP
DNA:snp:intron:g.IVS2+2841C>T (rs222741)
RGD
PMID:22162417
RGD:7175557
NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
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TRPV3
transient receptor potential cation channel subfamily V member 3
IAGP
DNA:snp:intron:g.36670T>C (rs7217270)
RGD
PMID:22162417
RGD:7175557
NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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TTR
transthyretin
IAGP
HPO
OMIM:105210
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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UNC93B1
unc-93 homolog B1, TLR signaling regulator
IAGP
HPO
ORPHA:1930
NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
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USP48
ubiquitin specific peptidase 48
IAGP
HPO
ORPHA:96253
NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
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USP8
ubiquitin specific peptidase 8
IAGP
HPO
ORPHA:96253
NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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VANGL1
VANGL planar cell polarity protein 1
IAGP
HPO
OMIM:600145
NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
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VHL
von Hippel-Lindau tumor suppressor
IAGP
HPO
OMIM:263400 ORPHA:892
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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VSX1
visual system homeobox 1
IAGP
HPO
OMIM:614195
NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141
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WASHC5
WASH complex subunit 5
IAGP
ClinVar Annotator: match by term: Headache
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WT1
WT1 transcription factor
IAGP
HPO
ORPHA:656
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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YEATS2
YEATS domain containing 2
IAGP
HPO
ORPHA:86814
NCBI chr 3:183,697,797...183,812,624
Ensembl chr 3:183,697,797...183,812,624
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ZFHX2
zinc finger homeobox 2
IAGP
HPO
OMIM:147430
NCBI chr14:23,520,857...23,555,952
Ensembl chr14:23,520,857...23,556,192
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ACSF3
acyl-CoA synthetase family member 3
IAGP
HPO
ORPHA:289504
NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121
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ACVRL1
activin A receptor like type 1
IAGP
HPO
OMIM:600376 ORPHA:774
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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ADA2
adenosine deaminase 2
IAGP
HPO
ORPHA:820
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADAMTS3
ADAM metallopeptidase with thrombospondin type 1 motif 3
IAGP
HPO
OMIM:618154
NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
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ADAMTSL1
ADAMTS like 1
IAGP
HPO
ORPHA:521445
NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950
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AIP
aryl hydrocarbon receptor interacting protein
IAGP
HPO
ORPHA:963
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ALPK1
alpha kinase 1
IAGP
HPO
OMIM:614979
NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621
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AMACR
alpha-methylacyl-CoA racemase
IAGP
HPO
OMIM:614307 ORPHA:79095
NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
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APP
amyloid beta precursor protein
IAGP
HPO
ORPHA:324703 ORPHA:324713
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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ATM
ATM serine/threonine kinase
IAGP
HPO
ORPHA:440437
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
IAGP
HPO
OMIM:602481
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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BMPR1A
bone morphogenetic protein receptor type 1A
IAGP
HPO
ORPHA:440437
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BRCA2
BRCA2 DNA repair associated
IAGP
ClinVar Annotator: match by term: Migraine
HPO ClinVar
PMID:15070707 PMID:16030099 PMID:16758124 PMID:17020472 PMID:18783588 PMID:20104584 PMID:20960228 PMID:21232165 PMID:21553119 PMID:21918853 PMID:22430266 PMID:22460208 PMID:22923021 PMID:23479189 PMID:24033266 PMID:25741868 PMID:26026974 PMID:26295337 PMID:26350514 PMID:26467025 PMID:27276934 PMID:28184943 PMID:28477318 PMID:28492532 PMID:28503720 PMID:29084914 PMID:29446198 PMID:29560538 PMID:30274973 PMID:30322717 PMID:30720863 PMID:32427313 PMID:33471991 PMID:34290354 PMID:34449592 PMID:34645131 PMID:34933735 More...
ORPHA:440437
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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C4A
complement C4A (Chido/Rodgers blood group)
IAGP
HPO
ORPHA:117
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar HPO
PMID:22249839 PMID:25741868 PMID:27959697 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518 PMID:31487502 More...
OMIM:108500 OMIM:141500 ORPHA:71518 ORPHA:97
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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CALR
calreticulin
IAGP
HPO
ORPHA:3318
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CAPN3
calpain 3
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17157502 PMID:17236769 PMID:17318636 PMID:17702496 PMID:17979987 PMID:18055493 PMID:20301490 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24803842 PMID:25135358 PMID:25741868 PMID:26301378 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:27708273 PMID:27884173 PMID:28492532 PMID:28877744 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 More...
NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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CCR1
C-C motif chemokine receptor 1
IAGP
HPO
ORPHA:117
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CHEK2
checkpoint kinase 2
IAGP
HPO
ORPHA:440437
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CLCN1
chloride voltage-gated channel 1
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:8533761 PMID:8845168 PMID:10737121 PMID:12163078 PMID:20301529 PMID:25741868 PMID:25749817 PMID:26467025 PMID:28492532 PMID:29606556 More...
NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083
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CLTRN
collectrin, amino acid transport regulator
IAGP
HPO
ORPHA:2116
NCBI chr X:15,627,318...15,675,644
Ensembl chr X:15,627,318...15,675,012
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COL3A1
collagen type III alpha 1 chain
IAGP
HPO
ORPHA:286
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL4A1
collagen type IV alpha 1 chain
IAGP
HPO
OMIM:175780
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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COL5A1
collagen type V alpha 1 chain
IAGP
HPO
OMIM:619329
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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COPB1
COPI coat complex subunit beta 1
IAGP
HPO
OMIM:619255
NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
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CSNK1D
casein kinase 1 delta
IAGP
HPO
OMIM:615224
NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700
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CTSH
cathepsin H
IAGP
HPO
ORPHA:2073
NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574
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DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
IAGP
HPO
ORPHA:101046
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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DNM1L
dynamin 1 like
IAGP
HPO
ORPHA:98673
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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DSP
desmoplakin
IAGP
ClinVar Annotator: match by term: Migraine headaches
ClinVar
PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26230511 PMID:26656175 PMID:27153395 PMID:28492532 More...
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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ENG
endoglin
IAGP
HPO
OMIM:187300 ORPHA:774
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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EPCAM
epithelial cell adhesion molecule
IAGP
HPO
ORPHA:144
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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EPHB4
EPH receptor B4
IAGP
HPO
ORPHA:137667
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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ERAP1
endoplasmic reticulum aminopeptidase 1
IAGP
HPO
ORPHA:117
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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FAN1
FANCD2 and FANCI associated nuclease 1
IAGP
HPO
ORPHA:144
NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108
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FAS
Fas cell surface death receptor
IAGP
HPO
ORPHA:117
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGFR2
fibroblast growth factor receptor 2
IAGP
HPO
ORPHA:794
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3
fibroblast growth factor receptor 3
IAGP
HPO
ORPHA:794 ORPHA:93262
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FRMD5
FERM domain containing 5
IAGP
HPO
OMIM:620094
NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
IAGP
HPO
ORPHA:1945
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GATA2
GATA binding protein 2
IAGP
HPO
ORPHA:3226
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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GDF2
growth differentiation factor 2
IAGP
HPO
ORPHA:774
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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GP1BA
glycoprotein Ib platelet subunit alpha
IAGP
HPO
ORPHA:274
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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GP1BB
glycoprotein Ib platelet subunit beta
IAGP
HPO
ORPHA:274
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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GP9
glycoprotein IX platelet
IAGP
HPO
ORPHA:274
NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
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GPR101
G protein-coupled receptor 101
IAGP
HPO
ORPHA:963
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IAGP
HPO
ORPHA:1945
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
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HCRT
hypocretin neuropeptide precursor
IAGP
HPO
ORPHA:2073
NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452
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HLA-B
major histocompatibility complex, class I, B
IAGP
HPO
ORPHA:117 ORPHA:3287
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
HPO
ORPHA:2073
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
HPO
ORPHA:2073
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HTR1A
5-hydroxytryptamine receptor 1A
IAGP
HPO
OMIM:614674
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
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IFNGR1
interferon gamma receptor 1
IAGP
HPO
ORPHA:117
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL10
interleukin 10
IAGP
HPO
ORPHA:117
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12A
interleukin 12A
IAGP
HPO
ORPHA:117
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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IL12A-AS1
IL12A antisense RNA 1
IAGP
HPO
ORPHA:117
NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
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IL12B
interleukin 12B
IAGP
HPO
ORPHA:3287
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL23R
interleukin 23 receptor
IAGP
HPO
ORPHA:117
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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JAG1
jagged canonical Notch ligand 1
IAGP
HPO
OMIM:619574
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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JAK2
Janus kinase 2
IAGP
HPO
ORPHA:3318
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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KCNA1
potassium voltage-gated channel subfamily A member 1
IAGP
HPO
ORPHA:98809
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KLRC4
killer cell lectin like receptor C4
IAGP
HPO
ORPHA:117
NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
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KRAS
KRAS proto-oncogene, GTPase
IAGP
HPO
ORPHA:144
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LGI1
leucine rich glioma inactivated 1
IAGP
HPO
ORPHA:101046
NCBI chr10:93,757,936...93,798,159
Ensembl chr10:93,757,840...93,806,272
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LOC126859827
BRD4-independent group 4 enhancer GRCh37_chr6:149699707-149700906
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868 PMID:28386937 PMID:28492532 PMID:29700987 PMID:31250519
NCBI chr 6:149,378,571...149,379,770
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LOC126862864
MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:22249839 PMID:25741868 PMID:27959697 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518 PMID:31487502 More...
NCBI chr19:13,260,738...13,261,937
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MAP2K2
mitogen-activated protein kinase kinase 2
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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MAPK8
mitogen-activated protein kinase 8
IAGP
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A
RGD
PMID:31784499
RGD:150340677
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
HPO
ORPHA:117
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MLH1
mutL homolog 1
IAGP
HPO
ORPHA:144
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MLH3
mutL homolog 3
IAGP
HPO
ORPHA:144
NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
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MLX
MAX dimerization protein MLX
IAGP
HPO
ORPHA:3287
NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
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MOG
myelin oligodendrocyte glycoprotein
IAGP
HPO
ORPHA:2073
NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372
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MPL
MPL proto-oncogene, thrombopoietin receptor
IAGP
HPO
ORPHA:3318
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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MRPL39
mitochondrial ribosomal protein L39
IAGP
HPO
OMIM:620646
NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517
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MSH2
mutS homolog 2
IAGP
HPO
ORPHA:144
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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MSH6
mutS homolog 6
IAGP
HPO
ORPHA:144
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2
mitochondrially encoded cytochrome c oxidase II
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3
mitochondrially encoded cytochrome c oxidase III
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-CYB
mitochondrially encoded cytochrome b
IAGP
HPO
OMIM:540000
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar HPO
PMID:15466014 PMID:16969869 PMID:17562939 PMID:20301353 PMID:24830958 PMID:25741868 PMID:30143805 More...
OMIM:540000 ORPHA:550
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
IAGP
HPO
ORPHA:550
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TC
mitochondrially encoded tRNA-Cys (UGU/C)
IAGP
HPO
OMIM:540000
NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826
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MT-TF
mitochondrially encoded tRNA-Phe (UUU/C)
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TH
mitochondrially encoded tRNA-His (CAU/C)
IAGP
HPO
ORPHA:550
NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
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MT-TK
mitochondrially encoded tRNA-Lys (AAA/G)
IAGP
HPO
OMIM:540000
NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
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MT-TL1
mitochondrially encoded tRNA-Leu (UUA/G) 1
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TQ
mitochondrially encoded tRNA-Gln (CAA/G)
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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MT-TS1
mitochondrially encoded tRNA-Ser (UCN) 1
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2
mitochondrially encoded tRNA-Ser (AGU/C) 2
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TV
mitochondrially encoded tRNA-Val (GUN)
IAGP
HPO
OMIM:540000
NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
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MT-TW
mitochondrially encoded tRNA-Trp (UGA/G)
IAGP
HPO
OMIM:540000 ORPHA:550
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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MUTYH
mutY DNA glycosylase
IAGP
HPO
ORPHA:440437
NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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MVK
mevalonate kinase
IAGP
HPO
ORPHA:343
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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MYD88
MYD88 innate immune signal transduction adaptor
IAGP
HPO
ORPHA:33226
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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MYH6
myosin heavy chain 6
IAGP
ClinVar Annotator: match by term: Migraine headaches
ClinVar
PMID:15998695 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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MYORG
myogenesis regulating glycosidase (putative)
IAGP
HPO
OMIM:618317
NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
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NDP
norrin cystine knot growth factor NDP
IAGP
HPO
ORPHA:649
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:97685
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NFIX
nuclear factor I X
IAGP
HPO
ORPHA:420179
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NLRP3
NLR family pyrin domain containing 3
IAGP
HPO
ORPHA:1451
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOP56
NOP56 ribonucleoprotein
IAGP
HPO
ORPHA:276198
NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar HPO
PMID:25741868
OMIM:125310 ORPHA:136
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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OPA1
OPA1 mitochondrial dynamin like GTPase
IAGP
HPO
ORPHA:1215 ORPHA:98673
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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P2RY11
purinergic receptor P2Y11
IAGP
HPO
ORPHA:2073
NCBI chr19:10,111,693...10,115,372
Ensembl chr19:10,111,693...10,115,372
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PDGFB
platelet derived growth factor subunit B
IAGP
HPO
OMIM:615483
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDGFRB
platelet derived growth factor receptor beta
IAGP
HPO
OMIM:615007
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PEX11B
peroxisomal biogenesis factor 11 beta
IAGP
HPO
OMIM:614920
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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PGK1
phosphoglycerate kinase 1
IAGP
HPO
OMIM:300653 ORPHA:713
NCBI chr X:78,104,248...78,129,295
Ensembl chr X:77,910,739...78,129,295
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PHACTR1
phosphatase and actin regulator 1
IAGP
DNA:SNP:intron:g.13011943 (rs9349379)
RGD
PMID:28957430 PMID:27066539
RGD:401901172 , RGD:401901243
NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
HPO
ORPHA:144
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PMS1
PMS1 homolog 1, mismatch repair system component
IAGP
HPO
ORPHA:144
NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
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PMS2
PMS1 homolog 2, mismatch repair system component
IAGP
HPO
ORPHA:144
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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POLD1
DNA polymerase delta 1, catalytic subunit
IAGP
HPO
ORPHA:440437
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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POLE
DNA polymerase epsilon, catalytic subunit
IAGP
HPO
ORPHA:440437
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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POLG
DNA polymerase gamma, catalytic subunit
IAGP
HPO
OMIM:607459 ORPHA:254881 ORPHA:254892 ORPHA:70595
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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POLG2
DNA polymerase gamma 2, accessory subunit
IAGP
HPO
ORPHA:254892
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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PPOX
protoporphyrinogen oxidase
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868
NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
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PRORP
protein only RNase P catalytic subunit
IAGP
HPO
OMIM:619737
NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622
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PRRT2
proline rich transmembrane protein 2
IAGP
HPO
OMIM:605751 ORPHA:98809
NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
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RASA1
RAS p21 protein activator 1
IAGP
HPO
ORPHA:137667
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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RELA
RELA proto-oncogene, NF-kB subunit
IAGP
HPO
ORPHA:251636
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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RELN
reelin
IAGP
HPO
ORPHA:101046
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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RNASEH1
ribonuclease H1
IAGP
HPO
ORPHA:329336
NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
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RPS20
ribosomal protein S20
IAGP
HPO
ORPHA:440437
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
IAGP
HPO
ORPHA:254892 ORPHA:329336
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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SCN5A
sodium voltage-gated channel alpha subunit 5
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More...
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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SEMA4A
semaphorin 4A
IAGP
HPO
ORPHA:440437
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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SH2B1
SH2B adaptor protein 1
IAGP
HPO
ORPHA:261222
NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
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SH2B3
SH2B adaptor protein 3
IAGP
HPO
ORPHA:3318
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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SLC1A3
solute carrier family 1 member 3
IAGP
HPO
OMIM:612656 ORPHA:209967
NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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SLC25A4
solute carrier family 25 member 4
IAGP
HPO
ORPHA:254892
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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SLC2A1
solute carrier family 2 member 1
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar HPO
PMID:25741868 PMID:28492532
OMIM:601042 OMIM:612126
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC6A19
solute carrier family 6 member 19
IAGP
HPO
ORPHA:2116
NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
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SMAD2
SMAD family member 2
IAGP
HPO
OMIM:619656
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD3
SMAD family member 3
IAGP
HPO
OMIM:613795 ORPHA:284984
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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SMAD4
SMAD family member 4
IAGP
HPO
ORPHA:774
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
IAGP
HPO
OMIM:242900
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IAGP
HPO
ORPHA:99966
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SPOP
speckle type BTB/POZ protein
IAGP
HPO
OMIM:618829
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
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SQOR
sulfide quinone oxidoreductase
IAGP
HPO
OMIM:619221
NCBI chr15:45,631,148...45,691,281
Ensembl chr15:45,631,148...45,691,281
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SRPX2
sushi repeat containing protein X-linked 2
IAGP
HPO
ORPHA:1945
NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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STARD7
StAR related lipid transfer domain containing 7
IAGP
HPO
OMIM:607876
NCBI chr 2:96,184,859...96,208,827
Ensembl chr 2:96,184,859...96,208,827
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STAT4
signal transducer and activator of transcription 4
IAGP
HPO
ORPHA:117
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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STIM1
stromal interaction molecule 1
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar HPO
PMID:25741868
OMIM:185070
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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SUFU
SUFU negative regulator of hedgehog signaling
IAGP
HPO
OMIM:620343
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
IAGP
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868 PMID:28386937 PMID:28492532 PMID:29700987 PMID:31250519
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
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TET2
tet methylcytosine dioxygenase 2
IAGP
HPO
ORPHA:3318
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TGFBR2
transforming growth factor beta receptor 2
IAGP
HPO
ORPHA:144
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TLR4
toll like receptor 4
IAGP
HPO
ORPHA:117
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNFRSF1A
TNF receptor superfamily member 1A
IAGP
HPO
ORPHA:32960
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFSF4
TNF superfamily member 4
IAGP
HPO
ORPHA:2073
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
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TP53
tumor protein p53
IAGP
HPO
ORPHA:3318
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TREX1
three prime repair exonuclease 1
IAGP
HPO
OMIM:192315 ORPHA:247691
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TWIST1
twist family bHLH transcription factor 1
IAGP
HPO
ORPHA:794
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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TWNK
twinkle mtDNA helicase
IAGP
HPO
OMIM:271245 OMIM:607459 ORPHA:254892 ORPHA:70595
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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UBAC2
UBA domain containing 2
IAGP
HPO
ORPHA:117
NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
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ZFTA
zinc finger translocation associated
IAGP
HPO
ORPHA:251636
NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775
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ZNF365
zinc finger protein 365
IAGP
HPO
ORPHA:2073
NCBI chr10:62,374,369...62,480,285
Ensembl chr10:62,374,192...62,480,288
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
IAGP
HPO
OMIM:602481 ORPHA:569
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
IAGP
HPO
OMIM:141500 ORPHA:569
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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COL4A1
collagen type IV alpha 1 chain
IAGP
HPO
OMIM:175780
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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CSNK1D
casein kinase 1 delta
IAGP
HPO
OMIM:615224
NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700
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DGUOK
deoxyguanosine kinase
IAGP
ClinVar Annotator: match by term: Migraine with aura
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
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EDNRA
endothelin receptor type A
IAGP
HPO
OMIM:157300
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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ESR1
estrogen receptor 1
IAGP
HPO
OMIM:157300
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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KCNK18
potassium two pore domain channel subfamily K member 18
IAGP
HPO
OMIM:613656
NCBI chr10:117,197,489...117,210,299
Ensembl chr10:117,197,489...117,210,299
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LOC129934096
ATAC-STARR-seq lymphoblastoid active region 16036
IAGP
ClinVar Annotator: match by term: Migraine with aura
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:73,926,912...73,927,181
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Migraine with aura
ClinVar HPO
PMID:32581362
ORPHA:136
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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PRRT2
proline rich transmembrane protein 2
IAGP
HPO
ORPHA:569
NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
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SCN1A
sodium voltage-gated channel alpha subunit 1
IAGP
HPO
OMIM:609634 ORPHA:569
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
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TNF
tumor necrosis factor
IAGP
HPO
OMIM:157300
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TREX1
three prime repair exonuclease 1
IAGP
HPO
ORPHA:247691
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
IAGP
HPO
OMIM:183086
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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CSNK1D
casein kinase 1 delta
IAGP
HPO
OMIM:615224
NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700
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EDNRA
endothelin receptor type A
IAGP
HPO
OMIM:157300
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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ESR1
estrogen receptor 1
IAGP
HPO
OMIM:157300
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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KCNK18
potassium two pore domain channel subfamily K member 18
IAGP
HPO
OMIM:613656
NCBI chr10:117,197,489...117,210,299
Ensembl chr10:117,197,489...117,210,299
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LDLR
low density lipoprotein receptor
IAGP
DNA:repeat:exon
RGD
PMID:12873747
RGD:5490245
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Migraine without aura
ClinVar
PMID:8878478 PMID:9388399 PMID:12754354 PMID:15229130 PMID:15857853 PMID:20071773 PMID:21940951 PMID:24425116 PMID:24886907 PMID:25412914 PMID:25741868 PMID:26467025 PMID:28334938 PMID:28492532 PMID:31418856 PMID:32277177 PMID:32555735 PMID:32581362 PMID:34335700 More...
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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TNF
tumor necrosis factor
IAGP
HPO
OMIM:157300
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TREX1
three prime repair exonuclease 1
IAGP
HPO
ORPHA:247691
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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DKK1
dickkopf WNT signaling pathway inhibitor 1
IAGP
HPO
ORPHA:268882
NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042
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DLST
dihydrolipoamide S-succinyltransferase
IAGP
HPO
ORPHA:29072
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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DNMT3A
DNA methyltransferase 3 alpha
IAGP
HPO
ORPHA:276621
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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EPAS1
endothelial PAS domain protein 1
IAGP
HPO
ORPHA:276621
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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FH
fumarate hydratase
IAGP
HPO
ORPHA:29072
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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KIF1B
kinesin family member 1B
IAGP
HPO
ORPHA:29072
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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MAX
MYC associated factor X
IAGP
HPO
ORPHA:29072
NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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MDH2
malate dehydrogenase 2
IAGP
HPO
ORPHA:29072
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
IAGP
HPO
ORPHA:550
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2
mitochondrially encoded cytochrome c oxidase II
IAGP
HPO
ORPHA:550
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3
mitochondrially encoded cytochrome c oxidase III
IAGP
HPO
ORPHA:550
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IAGP
HPO
ORPHA:550
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
IAGP
HPO
ORPHA:550
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
IAGP
HPO
ORPHA:550
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
IAGP
HPO
ORPHA:550
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TF
mitochondrially encoded tRNA-Phe (UUU/C)
IAGP
HPO
ORPHA:550
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TH
mitochondrially encoded tRNA-His (CAU/C)
IAGP
HPO
ORPHA:550
NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
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MT-TL1
mitochondrially encoded tRNA-Leu (UUA/G) 1
IAGP
HPO
ORPHA:550
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TQ
mitochondrially encoded tRNA-Gln (CAA/G)
IAGP
HPO
ORPHA:550
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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MT-TS1
mitochondrially encoded tRNA-Ser (UCN) 1
IAGP
HPO
ORPHA:550
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2
mitochondrially encoded tRNA-Ser (AGU/C) 2
IAGP
HPO
ORPHA:550
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TW
mitochondrially encoded tRNA-Trp (UGA/G)
IAGP
HPO
ORPHA:550
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:29072
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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RET
ret proto-oncogene
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
HPO
ORPHA:29072
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF2
succinate dehydrogenase complex assembly factor 2
IAGP
HPO
ORPHA:29072
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHB
succinate dehydrogenase complex iron sulfur subunit B
IAGP
HPO
OMIM:115310 ORPHA:276621 ORPHA:29072
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC
succinate dehydrogenase complex subunit C
IAGP
HPO
OMIM:605373 ORPHA:29072
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD
succinate dehydrogenase complex subunit D
IAGP
HPO
OMIM:168000 ORPHA:276621 ORPHA:29072
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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SLC25A11
solute carrier family 25 member 11
IAGP
HPO
ORPHA:29072
NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
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TMEM127
transmembrane protein 127
IAGP
HPO
ORPHA:29072
NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047
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VHL
von Hippel-Lindau tumor suppressor
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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