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: Primary Headache Disorders
Accession: DOID:9001144
browse the term
Definition: Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes.
Synonyms: exact_synonym: Alarm Clock Headache; Benign Cough Headache; Benign Cough Headaches; Benign Exertional Headache; Benign Exertional Headaches; Cough Headache; Hypnic Headache; Hypnic Headache Syndrome; Hypnic Headache Syndromes; Ice Pick Headache; Ice-Pick Headaches; Primary Cough Headache; Primary Exertional Headache; Primary Headache Disorder; Primary Stabbing Headache; Primary Thunderclap Headache; Stabbing Headache; alarm clock headaches; thunderclap headache
primary_id: MESH:D051270
alt_id: RDO:0006127
G
Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
ISO
DNA:SNP:CDS (rs1800759, rs1126671) (human)
RGD
PMID:24469609
RGD:405096434
NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Migraine, familial basilar
ClinVar
PMID:16344534 PMID:18498390 PMID:23954377 PMID:25741868 PMID:28492532
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:9536098 PMID:11439943 PMID:12023326 PMID:12539047 PMID:14667076 PMID:15159495 PMID:15174025 PMID:15286158 PMID:15459825 PMID:16088919 PMID:16110494 PMID:16199547 PMID:16344534 PMID:16437583 PMID:16538223 PMID:17142831 PMID:17435187 PMID:17473835 PMID:17576681 PMID:17877748 PMID:17952365 PMID:18028456 PMID:18056581 PMID:18414213 PMID:18498390 PMID:18513263 PMID:18644608 PMID:18728015 PMID:18957371 PMID:19372756 PMID:19458722 PMID:19874388 PMID:20301562 PMID:20720542 PMID:20837964 PMID:21352219 PMID:21398422 PMID:21533730 PMID:22117059 PMID:23821026 PMID:23838748 PMID:23954377 PMID:24396618 PMID:24498617 PMID:24704353 PMID:24921013 PMID:25741868 PMID:25948653 PMID:26467025 PMID:26544041 PMID:27066515 PMID:27226003 PMID:27790126 PMID:27864847 PMID:28492532 PMID:28717674 PMID:28811059 PMID:29062094 PMID:29343472 PMID:29486580 PMID:29655203 PMID:29778030 PMID:29867740 PMID:29956301 PMID:30185235 PMID:30523548 PMID:30690204 PMID:31737037 PMID:33057194 PMID:33126486 PMID:33794876 PMID:34384358 PMID:34992632 PMID:35257835 PMID:35982159 PMID:36044383 PMID:36480001 PMID:36703223 More...
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
G
Atp1a4
ATPase Na+/K+ transporting subunit alpha 4
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISS ISO
OMIM:141500 | OMIM:300125 | OMIM:602481 | OMIM:607516 | OMIM:609634 ClinVar Annotator: match by term: Familial hemiplegic migraine
MouseDO ClinVar
PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 PMID:9915947 PMID:10024348 PMID:10408532 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11971066 PMID:12056940 PMID:12235360 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15743764 PMID:15795222 PMID:16508934 PMID:17142831 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18581134 PMID:19242091 PMID:19520699 PMID:19624685 PMID:20301562 PMID:20837964 PMID:22000314 PMID:22190617 PMID:22527033 PMID:22969264 PMID:23407676 PMID:23934111 PMID:24270521 PMID:24486772 PMID:24498617 PMID:25266619 PMID:25274239 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25969684 PMID:26467025 PMID:26814174 PMID:27066515 PMID:28169007 PMID:28492532 PMID:28856914 PMID:28900389 PMID:29444203 PMID:29915382 PMID:30063100 PMID:31692161 PMID:31824404 PMID:33084218 PMID:33098801 PMID:35401678 PMID:36530930 PMID:97053792 More...
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Casq1
calsequestrin 1
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
G
Copa
COPI coat complex subunit alpha
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
G
Dcaf8
DDB1 and CUL4 associated factor 8
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
G
Igsf8
immunoglobulin superfamily, member 8
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
G
Kcnj9
potassium inwardly-rectifying channel, subfamily J, member 9
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
G
Ncstn
nicastrin
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
G
Pea15
proliferation and apoptosis adaptor protein 15
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
G
Pex19
peroxisomal biogenesis factor 19
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:28492532
NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
G
Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Familial hemiplegic migraine
ClinVar
PMID:18621678 PMID:19220312 PMID:20301562 PMID:25741868 PMID:26467025 PMID:28012175 PMID:28492532 PMID:29933521 PMID:31880072 More...
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9566402 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11061267 PMID:11176968 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11960817 PMID:11971066 PMID:11985388 PMID:12056940 PMID:12111613 PMID:12235360 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15032980 PMID:15240985 PMID:15452324 PMID:15743764 PMID:15795222 PMID:16043807 PMID:16199547 PMID:16508934 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18400034 PMID:18437043 PMID:18581134 PMID:19242091 PMID:19344873 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:20080591 PMID:20129625 PMID:20301562 PMID:20837964 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22969264 PMID:23183922 PMID:23407676 PMID:23934111 PMID:23961289 PMID:24033266 PMID:24270521 PMID:24486772 PMID:24498617 PMID:24849341 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27959697 PMID:28007337 PMID:28169007 PMID:28492532 PMID:28566750 PMID:28856914 PMID:28900389 PMID:28978442 PMID:29056246 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29915382 PMID:30063100 PMID:30283815 PMID:31468518 PMID:31487502 PMID:31506931 PMID:31692161 PMID:31824404 PMID:32170034 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33278787 PMID:34102571 PMID:34436362 PMID:35401678 PMID:35722745 PMID:36530930 PMID:97053792 More...
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1
ClinVar
PMID:25741868
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO ISS
ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 OMIM:602481 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:9579893 PMID:11439943 PMID:12023326 PMID:12539047 PMID:12953268 PMID:15133718 PMID:15159495 PMID:15174025 PMID:15308625 PMID:15459825 PMID:16037212 PMID:16088919 PMID:16344534 PMID:17435187 PMID:17473835 PMID:17576681 PMID:17877748 PMID:17952365 PMID:18056581 PMID:18414213 PMID:18498390 PMID:18728015 PMID:18957371 PMID:19372756 PMID:19874388 PMID:20301562 PMID:20720542 PMID:20837964 PMID:21172953 PMID:21398422 PMID:21533730 PMID:22117059 PMID:23821026 PMID:23954377 PMID:24096472 PMID:24704353 PMID:24921013 PMID:24928127 PMID:25138102 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26544041 PMID:27226003 PMID:27790126 PMID:27818813 PMID:28492532 PMID:28717674 PMID:29413639 PMID:29904856 PMID:30097147 PMID:30523548 PMID:30690204 PMID:31737037 PMID:33126486 PMID:33880529 PMID:34384358 PMID:35257835 PMID:36044383 More...
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
G
Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1893099 PMID:9536098 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11940708 PMID:12083760 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:14504318 PMID:14738421 PMID:15277634 PMID:16054936 PMID:16199547 PMID:16326807 PMID:16458823 PMID:17054684 PMID:17054685 PMID:17347258 PMID:17561957 PMID:17576681 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18632931 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19236456 PMID:19332696 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19809937 PMID:20431604 PMID:20522430 PMID:20600615 PMID:20729507 PMID:20879882 PMID:21248271 PMID:21396429 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22150645 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23195492 PMID:23398611 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24337656 PMID:24412860 PMID:24464349 PMID:24502503 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25401298 PMID:25525159 PMID:25669891 PMID:25741868 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26232052 PMID:26236192 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:27113213 PMID:27231140 PMID:27236449 PMID:27465585 PMID:27864847 PMID:28079314 PMID:28148630 PMID:28202706 PMID:28488083 PMID:28492532 PMID:28544625 PMID:28794249 PMID:28837158 PMID:29100083 PMID:29141279 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29358611 PMID:29739726 PMID:29745119 PMID:29852413 PMID:29981888 PMID:30258939 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30619928 PMID:30779207 PMID:30868114 PMID:31031587 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31791873 PMID:31864146 PMID:31875159 PMID:32090326 PMID:32581362 PMID:32613771 PMID:33067208 PMID:33084218 PMID:33278787 PMID:34163418 PMID:34268891 PMID:34489640 PMID:34645491 PMID:35074891 PMID:35663268 PMID:36158059 PMID:36287100 PMID:36684540 More...
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
G
Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Migraine
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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
DNA:missense mutation:cds:p.E1015K(human) ClinVar Annotator: match by term: Migraine
ClinVar RGD
PMID:22249839 PMID:25741868 PMID:27959697 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518 PMID:31487502 PMID:24108129 More...
RGD:10054426
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Calca
calcitonin-related polypeptide alpha
no_association treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12574409 PMID:17635592 PMID:35115687 PMID:21195698 PMID:32522232 PMID:20959432 More...
RGD:5684017 , RGD:405650618 , RGD:5684020
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
G
Calcb
calcitonin-related polypeptide, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115687
NCBI chr 1:168,965,383...168,970,259
Ensembl chr 1:168,966,465...168,970,125
G
Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Migraine Disorders
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 chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:21331754
RGD:5490597
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Clcn1
chloride voltage-gated channel 1
ISO
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 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Migraine Disorders
ClinVar
PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26230511 PMID:26656175 PMID:27153395 PMID:28492532 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Ednra
endothelin receptor type A
ISO
DNA:polymorphism:-231A>G ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1 | ClinVar Annotator: match by term: Migraine, resistance to
ClinVar OMIM RGD
PMID:11376172 PMID:23058564 PMID:25741868 PMID:28492532 PMID:11376172
RGD:734916
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Esr1
estrogen receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to
CTD OMIM ClinVar
PMID:15133719 PMID:25741868
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Fhl5
four and a half LIM domains 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793025
NCBI chr 5:38,907,941...38,956,759
Ensembl chr 5:38,907,946...38,956,552
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
IEP
RGD
PMID:32522232
RGD:405650618
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Htr1f
5-hydroxytryptamine receptor 1F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115687
NCBI chr11:2,642,751...2,644,150
Ensembl chr11:2,642,751...2,644,150
G
Htr2a
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12482207
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Htr7
5-hydroxytryptamine receptor 7
IMP
RGD
PMID:20236348
RGD:6482182
NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
G
Kcnk18
potassium two pore domain channel subfamily K member 18
susceptibility
ISO
ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13
OMIM ClinVar
PMID:20871611 PMID:25741868 PMID:28492532 PMID:30573346
NCBI chr 1:258,374,671...258,388,945
Ensembl chr 1:258,374,671...258,388,945
G
Lrp1
LDL receptor related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666692
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
G
Maoa
monoamine oxidase A
no_association
ISO
RGD
PMID:15088153
RGD:1600725
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Mfn1
mitofusin 1
IEP
protein:decreased expression:trigeminal ganglion (rat)
RGD
PMID:27984195
RGD:12910755
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:15466014 PMID:16969869 PMID:17562939 PMID:20301353 PMID:24830958 PMID:25741868 PMID:30143805 More...
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:21635773
RGD:7387244
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Migraine Disorders
ClinVar
PMID:15998695 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
G
Nos3
nitric oxide synthase 3
ISO
associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C (human)
RGD
PMID:16123422
RGD:7771539
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
G
Nppb
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:22165670
RGD:5685652
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
G
Phactr1
phosphatase and actin regulator 1
ISO
DNA:SNP:intron:g.13011943 (rs9349379) (human)
RGD
PMID:28957430 PMID:27066539
RGD:401901172 , RGD:401901243
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
G
Ppox
protoporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
G
Prdm16
PR/SET domain 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666692
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Migraine Disorders
ClinVar
PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
G
Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
G
Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
G
Sugct
succinylCoA:glutarate-CoA transferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793025
NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
G
Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
ClinVar Annotator: match by term: Migraine
ClinVar
PMID:25741868 PMID:28386937 PMID:28492532 PMID:29700987 PMID:31250519
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
G
Tgfbr2
transforming growth factor, beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16885183
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
G
Tnf
tumor necrosis factor
susceptibility
ISO
ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1
OMIM ClinVar
PMID:25741868
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Trpm8
transient receptor potential cation channel, subfamily M, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666692
NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
G
Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
DNA:snp:intron:g.IVS2+2841C>T rs222741 (human)
RGD
PMID:22162417
RGD:7175557
NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
RGD
PMID:12953268
RGD:1358436
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
DNA:mutation:cds:P.V1457L(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35115687 PMID:10408532
RGD:10054422
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Dbh
dopamine beta-hydroxylase
ISO
DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human)
RGD
PMID:17095019
RGD:1625569
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
G
Drd2
dopamine receptor D2
ISO
DNA:snp:cds:p.H313H (human)
RGD
PMID:9513185
RGD:1358603
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
G
Hmox2
heme oxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115687
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
G
Mpped2
metallophosphoesterase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115687
NCBI chr 3:93,180,895...93,355,605
Ensembl chr 3:93,181,167...93,355,618
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:21635773
RGD:7387244
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Migraine with aura
ClinVar
PMID:32581362
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
G
Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISO
DNA:snp:intron:g.36670T>C rs7217270 (human)
RGD
PMID:22162417
RGD:7175557
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
G
Astn2
astrotactin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683712
NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
G
Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11304026 PMID:14659530
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
G
Eno2
enolase 2
ISO
protein:increased expression:serum
RGD
PMID:21293918
RGD:5508769
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
G
Ldlr
low density lipoprotein receptor
ISO
DNA:repeat:exon (human)
RGD
PMID:12873747
RGD:5490245
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lrp1
LDL receptor related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683712
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
G
Mef2d
myocyte enhancer factor 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683712
NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
G
Notch3
notch receptor 3
ISO
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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
G
Phactr1
phosphatase and actin regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683712
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
G
S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum
RGD
PMID:21293918
RGD:5508769
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
G
Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11304026
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:14718719
RGD:1580316
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Trpm8
transient receptor potential cation channel, subfamily M, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683712
NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
G
Alpk1
alpha-kinase 1
ISO
ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 PMID:35868845 More...
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Sporadic hemiplegic migraine
ClinVar
PMID:10408534 PMID:10734061 PMID:11176968 PMID:11439943 PMID:12056940 PMID:12707077 PMID:17142831 PMID:18056581 PMID:19624685 PMID:20301562 PMID:20837964 PMID:22527033 PMID:23407676 PMID:24486772 PMID:24498617 PMID:25741868 PMID:25969684 PMID:26467025 PMID:26814174 PMID:27066515 PMID:28492532 PMID:28900389 PMID:29444203 PMID:33084218 PMID:35401678 PMID:36530930 More...
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
G
Rhog
ras homolog family member G
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
G
Stim1
stromal interaction molecule 1
ISO ISS
OMIM:185070 ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
OMIM MouseDO ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:16199547 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:23332920 PMID:23851458 PMID:24033266 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:24621671 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25640679 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26255678 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28492532 PMID:28624464 PMID:29237733 PMID:31844136 PMID:32098964 PMID:33468626 PMID:33628209 PMID:34498097 PMID:35724962 More...
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all