Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Headache (HP:0002315)help
Term ID: 2315
Name: Headache
Synonym: Headache; Headaches
Definition: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Comments:
Reference: HP:0002315
Genes and Diseases:
 
       Child Nodes:
........expandMigraine (HP:0002076) help
................... HP:0002077 Migraine with aura
................... HP:0002083 Migraine without aura
........expandRecurrent paroxysmal headache (HP:0002331) help
........expandCluster headache (HP:0012199) help
........expandTension-type headache (HP:0012228) help
........expandOccipital neuralgia (HP:0012318) help
........expandHypnic headache (HP:0012459) help
........expandThunderclap headache (HP:0030907) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002315HP:0002315Headache0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0002315HP:0002315Headache0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemia68
HP:0002315HP:0002315Headache0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0002315HP:0002315Headache0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional27
HP:0002315HP:0002315Headache0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0002315HP:0002315Headache0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0002315HP:0002315Headache0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0002315HP:0002315Headache0ADA2 CL E G H518161839ORPHA:820Sneddon syndrome22
HP:0002315HP:0002315Headache0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0002315HP:0002315Headache0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0002315HP:0002315Headache0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0002315HP:0002315Headache0ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional3
HP:0002315HP:0002315Headache0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0002315HP:0002315Headache0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0002315HP:0002315Headache0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0002315HP:0002315Headache0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0002315HP:0002315Headache0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040283 - Occasional132
HP:0002315HP:0002315Headache0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0002315HP:0002315Headache0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0002315HP:0002315Headache0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosisHP:0040283 - Occasional34
HP:0002315HP:0002315Headache0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional6
HP:0002315HP:0002315Headache0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type IIIHP:0040283 - Occasional6
HP:0002315HP:0002315Headache0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0002315HP:0002315Headache0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0002315HP:0002315Headache0APP CL E G H351620ORPHA:100006ABeta amyloidosis, Dutch typeHP:0040281 - Very frequent74
HP:0002315HP:0002315Headache0APP CL E G H351620ORPHA:324713ABeta amyloidosis, Italian type74
HP:0002315HP:0002315Headache0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosis74
HP:0002315HP:0002315Headache0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0002315HP:0002315Headache0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0002315HP:0002315Headache0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent145
HP:0002315HP:0002315Headache0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002315HP:0002315Headache0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0002315HP:0002315Headache0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0002315HP:0002315Headache0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002315HP:0002315Headache0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0002315HP:0002315Headache0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040283 - Occasional169
HP:0002315HP:0002315Headache0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0002315HP:0002315Headache0BCAT2 CL E G H587977OMIM:618850HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002315HP:0002315Headache0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0002315HP:0002315Headache0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0002315HP:0002315Headache0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040283 - Occasional276
HP:0002315HP:0002315Headache0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2449
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1449
HP:0002315HP:0002315Headache0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6449
HP:0002315HP:0002315Headache0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040283 - Occasional51
HP:0002315HP:0002315Headache0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0002315HP:0002315Headache0CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-2.37
HP:0002315HP:0002315Headache0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040281 - Very frequent37
HP:0002315HP:0002315Headache0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0002315HP:0002315Headache0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional105
HP:0002315HP:0002315Headache0CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040282 - Frequent39
HP:0002315HP:0002315Headache0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0002315HP:0002315Headache0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0002315HP:0002315Headache0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040283 - Occasional636
HP:0002315HP:0002315Headache0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0002315HP:0002315Headache0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0002315HP:0002315Headache0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0002315HP:0002315Headache0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0002315HP:0002315Headache0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0002315HP:0002315Headache0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0002315HP:0002315Headache0CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040282 - Frequent86
HP:0002315HP:0002315Headache0CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040282 - Frequent57
HP:0002315HP:0002315Headache0CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type IIHP:0040283 - Occasional44
HP:0002315HP:0002315Headache0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia.44
HP:0002315HP:0002315Headache0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002315HP:0002315Headache0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0002315HP:0002315Headache0CNNM2 CL E G H54805103OMIM:613882Hypomagnesemia 6, renal.47
HP:0002315HP:0002315Headache0CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional9
HP:0002315HP:0002315Headache0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare373
HP:0002315HP:0002315Headache0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0002315HP:0002315Headache0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0002315HP:0002315Headache0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional161
HP:0002315HP:0002315Headache0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare660
HP:0002315HP:0002315Headache0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0002315HP:0002315Headache0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare325
HP:0002315HP:0002315Headache0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0002315HP:0002315Headache0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional35
HP:0002315HP:0002315Headache0CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040283 - Occasional5
HP:0002315HP:0002315Headache0COX1 CL E G H45127419ORPHA:550MELAS
HP:0002315HP:0002315Headache0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0COX2 CL E G H45137421ORPHA:550MELAS
HP:0002315HP:0002315Headache0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0COX3 CL E G H45147422ORPHA:550MELAS
HP:0002315HP:0002315Headache0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0002315HP:0002315Headache0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional12
HP:0002315HP:0002315Headache0CSNK1D CL E G H14532452OMIM:615224Advanced sleep phase syndrome, familial, 22
HP:0002315HP:0002315Headache0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0002315HP:0002315Headache0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0002315HP:0002315Headache0CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional15
HP:0002315HP:0002315Headache0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0002315HP:0002315Headache0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type IHP:0040283 - Occasional112
HP:0002315HP:0002315Headache0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type IHP:0040283 - Occasional73
HP:0002315HP:0002315Headache0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0DEPDC5 CL E G H968118423ORPHA:101046Autosomal dominant epilepsy with auditory features172
HP:0002315HP:0002315Headache0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040281 - Very frequent
HP:0002315HP:0002315Headache0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0002315HP:0002315Headache0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0002315HP:0002315Headache0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0002315HP:0002315Headache0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0002315HP:0002315Headache0EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 13
HP:0002315HP:0002315Headache0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040281 - Very frequent79
HP:0002315HP:0002315Headache0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0002315HP:0002315Headache0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0002315HP:0002315Headache0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0002315HP:0002315Headache0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0002315HP:0002315Headache0EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0002315HP:0002315Headache0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0002315HP:0002315Headache0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0002315HP:0002315Headache0EPOR CL E G H20573416ORPHA:90042Primary familial polycythemiaHP:0040281 - Very frequent43
HP:0002315HP:0002315Headache0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0002315HP:0002315Headache0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0002315HP:0002315Headache0ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 113
HP:0002315HP:0002315Headache0F8 CL E G H21573546ORPHA:169805Moderate hemophilia AHP:0040283 - Occasional303
HP:0002315HP:0002315Headache0F8 CL E G H21573546ORPHA:169802Severe hemophilia AHP:0040283 - Occasional303
HP:0002315HP:0002315Headache0FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0002315HP:0002315Headache0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0002315HP:0002315Headache0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0002315HP:0002315Headache0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0002315HP:0002315Headache0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0002315HP:0002315Headache0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0002315HP:0002315Headache0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0002315HP:0002315Headache0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndrome145
HP:0002315HP:0002315Headache0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0002315HP:0002315Headache0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0002315HP:0002315Headache0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0002315HP:0002315Headache0FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040283 - Occasional11
HP:0002315HP:0002315Headache0FRMD5 CL E G H8497828214OMIM:620094
HP:0002315HP:0002315Headache0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0002315HP:0002315Headache0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0002315HP:0002315Headache0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0002315HP:0002315Headache0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0002315HP:0002315Headache0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0002315HP:0002315Headache0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0002315HP:0002315Headache0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002315HP:0002315Headache0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0002315HP:0002315Headache0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0002315HP:0002315Headache0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0002315HP:0002315Headache0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0002315HP:0002315Headache0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0002315HP:0002315Headache0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0002315HP:0002315Headache0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0002315HP:0002315Headache0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040282 - Frequent
HP:0002315HP:0002315Headache0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0002315HP:0002315Headache0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040281 - Very frequent4
HP:0002315HP:0002315Headache0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0002315HP:0002315Headache0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0002315HP:0002315Headache0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040281 - Very frequent2
HP:0002315HP:0002315Headache0HTR1A CL E G H33505286OMIM:614674Periodic fever, menstrual cycle-dependent2
HP:0002315HP:0002315Headache0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.34
HP:0002315HP:0002315Headache0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0002315HP:0002315Headache0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0002315HP:0002315Headache0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0002315HP:0002315Headache0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0002315HP:0002315Headache0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0002315HP:0002315Headache0IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0002315HP:0002315Headache0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0002315HP:0002315Headache0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional135
HP:0002315HP:0002315Headache0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0002315HP:0002315Headache0IRF3 CL E G H36616118OMIM:616532Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7.1
HP:0002315HP:0002315Headache0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0002315HP:0002315Headache0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002315HP:0002315Headache0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0002315HP:0002315Headache0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent57
HP:0002315HP:0002315Headache0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0002315HP:0002315Headache0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040282 - Frequent145
HP:0002315HP:0002315Headache0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0002315HP:0002315Headache0KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesia145
HP:0002315HP:0002315Headache0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040283 - Occasional128
HP:0002315HP:0002315Headache0KCNK18 CL E G H33856719439OMIM:613656MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR134
HP:0002315HP:0002315Headache0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0002315HP:0002315Headache0KIF23 CL E G H94936392ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytomaHP:0040283 - Occasional327
HP:0002315HP:0002315Headache0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent327
HP:0002315HP:0002315Headache0KL CL E G H93656344OMIM:617994TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC368
HP:0002315HP:0002315Headache0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0002315HP:0002315Headache0KRAS CL E G H38456407ORPHA:144Lynch syndrome196
HP:0002315HP:0002315Headache0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 1.92
HP:0002315HP:0002315Headache0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040281 - Very frequent92
HP:0002315HP:0002315Headache0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0002315HP:0002315Headache0LGI1 CL E G H92116572ORPHA:101046Autosomal dominant epilepsy with auditory features75
HP:0002315HP:0002315Headache0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0002315HP:0002315Headache0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040282 - Frequent186
HP:0002315HP:0002315Headache0LRP5 CL E G H40416697OMIM:607634Osteopetrosis, autosomal dominant 1125
HP:0002315HP:0002315Headache0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0002315HP:0002315Headache0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional59
HP:0002315HP:0002315Headache0MAOA CL E G H41286833OMIM:300615Brunner syndrome.22
HP:0002315HP:0002315Headache0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0002315HP:0002315Headache0MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional
HP:0002315HP:0002315Headache0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0002315HP:0002315Headache0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0002315HP:0002315Headache0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0002315HP:0002315Headache0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0002315HP:0002315Headache0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002315HP:0002315Headache0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0002315HP:0002315Headache0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0002315HP:0002315Headache0MLH1 CL E G H42927127ORPHA:144Lynch syndrome1819
HP:0002315HP:0002315Headache0MLH3 CL E G H270307128ORPHA:144Lynch syndrome131
HP:0002315HP:0002315Headache0MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0002315HP:0002315Headache0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent97
HP:0002315HP:0002315Headache0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0002315HP:0002315Headache0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36
HP:0002315HP:0002315Headache0MSH2 CL E G H44367325ORPHA:144Lynch syndrome2162
HP:0002315HP:0002315Headache0MSH6 CL E G H29567329ORPHA:144Lynch syndrome2232
HP:0002315HP:0002315Headache0MSX2 CL E G H44887392OMIM:604757Craniosynostosis 2HP:0040283 - Occasional45
HP:0002315HP:0002315Headache0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040283 - Occasional45
HP:0002315HP:0002315Headache0MSX2 CL E G H44887392OMIM:168500Parietal foramina.45
HP:0002315HP:0002315Headache0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0002315HP:0002315Headache0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0002315HP:0002315Headache0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0002315HP:0002315Headache0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0002315HP:0002315Headache0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0002315HP:0002315Headache0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0002315HP:0002315Headache0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0002315HP:0002315Headache0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0002315HP:0002315Headache0ND1 CL E G H45357455ORPHA:550MELAS
HP:0002315HP:0002315Headache0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0ND4 CL E G H45387459ORPHA:550MELAS
HP:0002315HP:0002315Headache0ND5 CL E G H45407461ORPHA:550MELAS
HP:0002315HP:0002315Headache0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0ND6 CL E G H45417462ORPHA:550MELAS
HP:0002315HP:0002315Headache0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0002315HP:0002315Headache0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0002315HP:0002315Headache0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0002315HP:0002315Headache0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0002315HP:0002315Headache0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0002315HP:0002315Headache0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II.220
HP:0002315HP:0002315Headache0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0002315HP:0002315Headache0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0002315HP:0002315Headache0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0002315HP:0002315Headache0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0002315HP:0002315Headache0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndrome217
HP:0002315HP:0002315Headache0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0002315HP:0002315Headache0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0002315HP:0002315Headache0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040282 - Frequent217
HP:0002315HP:0002315Headache0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0002315HP:0002315Headache0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0002315HP:0002315Headache0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0002315HP:0002315Headache0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy144
HP:0002315HP:0002315Headache0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional241
HP:0002315HP:0002315Headache0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional69
HP:0002315HP:0002315Headache0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040283 - Occasional13
HP:0002315HP:0002315Headache0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040283 - Occasional79
HP:0002315HP:0002315Headache0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0002315HP:0002315Headache0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0002315HP:0002315Headache0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0002315HP:0002315Headache0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic form214
HP:0002315HP:0002315Headache0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0002315HP:0002315Headache0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional39
HP:0002315HP:0002315Headache0PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 3HP:0040282 - Frequent21
HP:0002315HP:0002315Headache0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040281 - Very frequent21
HP:0002315HP:0002315Headache0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0002315HP:0002315Headache0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0002315HP:0002315Headache0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0002315HP:0002315Headache0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0002315HP:0002315Headache0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency21
HP:0002315HP:0002315Headache0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency21
HP:0002315HP:0002315Headache0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0002315HP:0002315Headache0PIGT CL E G H5160414938OMIM:615399Paroxysmal nocturnal hemoglobinuria 2.12
HP:0002315HP:0002315Headache0PIK3CA CL E G H52908975ORPHA:144Lynch syndrome162
HP:0002315HP:0002315Headache0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0002315HP:0002315Headache0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional118
HP:0002315HP:0002315Headache0PMS1 CL E G H53789121ORPHA:144Lynch syndrome56
HP:0002315HP:0002315Headache0PMS2 CL E G H53959122ORPHA:144Lynch syndrome1121
HP:0002315HP:0002315Headache0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0002315HP:0002315Headache0POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndromeHP:0040282 - Frequent464
HP:0002315HP:0002315Headache0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002315HP:0002315Headache0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome464
HP:0002315HP:0002315Headache0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0002315HP:0002315Headache0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0002315HP:0002315Headache0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0002315HP:0002315Headache0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002315HP:0002315Headache0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0002315HP:0002315Headache0PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesia94
HP:0002315HP:0002315Headache0PRRT2 CL E G H11247630500OMIM:605751Seizures, benign familial infantile, 294
HP:0002315HP:0002315Headache0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0002315HP:0002315Headache0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040281 - Very frequent948
HP:0002315HP:0002315Headache0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0002315HP:0002315Headache0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0002315HP:0002315Headache0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional2
HP:0002315HP:0002315Headache0RACGAP1 CL E G H291279804ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040283 - Occasional
HP:0002315HP:0002315Headache0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0002315HP:0002315Headache0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040283 - Occasional88
HP:0002315HP:0002315Headache0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0002315HP:0002315Headache0RELA CL E G H59709955ORPHA:251636Ependymoma1
HP:0002315HP:0002315Headache0RELN CL E G H56499957ORPHA:101046Autosomal dominant epilepsy with auditory features334
HP:0002315HP:0002315Headache0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0002315HP:0002315Headache0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0002315HP:0002315Headache0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0002315HP:0002315Headache0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0002315HP:0002315Headache0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0002315HP:0002315Headache0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0002315HP:0002315Headache0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0002315HP:0002315Headache0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002315HP:0002315Headache0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0002315HP:0002315Headache0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type X1
HP:0002315HP:0002315Headache0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0002315HP:0002315Headache0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0002315HP:0002315Headache0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040282 - Frequent1200
HP:0002315HP:0002315Headache0SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional2
HP:0002315HP:0002315Headache0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0002315HP:0002315Headache0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0002315HP:0002315Headache0SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 31053
HP:0002315HP:0002315Headache0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040283 - Occasional1134
HP:0002315HP:0002315Headache0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0002315HP:0002315Headache0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002315HP:0002315Headache0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0002315HP:0002315Headache0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0002315HP:0002315Headache0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0002315HP:0002315Headache0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0002315HP:0002315Headache0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0002315HP:0002315Headache0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0002315HP:0002315Headache0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0002315HP:0002315Headache0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0002315HP:0002315Headache0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0002315HP:0002315Headache0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0002315HP:0002315Headache0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type X48
HP:0002315HP:0002315Headache0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0002315HP:0002315Headache0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0002315HP:0002315Headache0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0002315HP:0002315Headache0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040281 - Very frequent55
HP:0002315HP:0002315Headache0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002315HP:0002315Headache0SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040283 - Occasional63
HP:0002315HP:0002315Headache0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 663
HP:0002315HP:0002315Headache0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0002315HP:0002315Headache0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0002315HP:0002315Headache0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0002315HP:0002315Headache0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0002315HP:0002315Headache0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0002315HP:0002315Headache0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0002315HP:0002315Headache0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0002315HP:0002315Headache0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0002315HP:0002315Headache0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup disease12
HP:0002315HP:0002315Headache0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0002315HP:0002315Headache0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0002315HP:0002315Headache0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0002315HP:0002315Headache0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0002315HP:0002315Headache0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0002315HP:0002315Headache0SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumor87
HP:0002315HP:0002315Headache0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0002315HP:0002315Headache0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0002315HP:0002315Headache0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0002315HP:0002315Headache0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0002315HP:0002315Headache0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0002315HP:0002315Headache0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002315HP:0002315Headache0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0002315HP:0002315Headache0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0002315HP:0002315Headache0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0002315HP:0002315Headache0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent1
HP:0002315HP:0002315Headache0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0002315HP:0002315Headache0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0002315HP:0002315Headache0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional2
HP:0002315HP:0002315Headache0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0002315HP:0002315Headache0STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040283 - Occasional2
HP:0002315HP:0002315Headache0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0002315HP:0002315Headache0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent20
HP:0002315HP:0002315Headache0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0002315HP:0002315Headache0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0002315HP:0002315Headache0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent3
HP:0002315HP:0002315Headache0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0002315HP:0002315Headache0TGFBR2 CL E G H704811773ORPHA:144Lynch syndrome253
HP:0002315HP:0002315Headache0THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent23
HP:0002315HP:0002315Headache0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent6
HP:0002315HP:0002315Headache0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent3
HP:0002315HP:0002315Headache0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0002315HP:0002315Headache0TLR7 CL E G H5128415631OMIM:301080
HP:0002315HP:0002315Headache0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0002315HP:0002315Headache0TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 17
HP:0002315HP:0002315Headache0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset72
HP:0002315HP:0002315Headache0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0002315HP:0002315Headache0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0002315HP:0002315Headache0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040283 - Occasional911
HP:0002315HP:0002315Headache0TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus.911
HP:0002315HP:0002315Headache0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0002315HP:0002315Headache0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0002315HP:0002315Headache0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent2
HP:0002315HP:0002315Headache0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0002315HP:0002315Headache0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0002315HP:0002315Headache0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations56
HP:0002315HP:0002315Headache0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy56
HP:0002315HP:0002315Headache0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNF CL E G H45587481ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNH CL E G H45647487ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRNW CL E G H45787501ORPHA:550MELAS
HP:0002315HP:0002315Headache0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0002315HP:0002315Headache0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional107
HP:0002315HP:0002315Headache0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0002315HP:0002315Headache0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0002315HP:0002315Headache0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0002315HP:0002315Headache0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0002315HP:0002315Headache0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002315HP:0002315Headache0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome113
HP:0002315HP:0002315Headache0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0002315HP:0002315Headache0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent5
HP:0002315HP:0002315Headache0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040283 - Occasional7
HP:0002315HP:0002315Headache0VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele.111
HP:0002315HP:0002315Headache0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0002315HP:0002315Headache0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0002315HP:0002315Headache0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0002315HP:0002315Headache0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0002315HP:0002315Headache0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0002315HP:0002315Headache0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional177
HP:0002315HP:0002315Headache0YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional1
HP:0002315HP:0002315Headache0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0002315HP:0002315Headache0ZFTA CL E G H6599828449ORPHA:251636Ependymoma
HP:0002315HP:0012199Cluster headache1 CL E G H
HP:0002315HP:0030907Thunderclap headache1 CL E G H
HP:0002315HP:0012459Hypnic headache1 CL E G H
HP:0002315HP:0012318Occipital neuralgia1 CL E G H
HP:0002315HP:0012228Tension-type headache1 CL E G H
HP:0002315HP:0002076Migraine1ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0002315HP:0002076Migraine1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0002315HP:0002076Migraine1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0002315HP:0002076Migraine1ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040281 - Very frequent22
HP:0002315HP:0002076Migraine1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0002315HP:0002076Migraine1ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0002315HP:0002076Migraine1AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0002315HP:0002076Migraine1AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0002315HP:0002076Migraine1APP CL E G H351620ORPHA:324713ABeta amyloidosis, Italian typeHP:0040281 - Very frequent74
HP:0002315HP:0002076Migraine1APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040282 - Frequent74
HP:0002315HP:0002076Migraine1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0002315HP:0002076Migraine1ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0002315HP:0002076Migraine1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0002315HP:0002076Migraine1C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0002315HP:0002076Migraine1CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040282 - Frequent449
HP:0002315HP:0002076Migraine1CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0002315HP:0002076Migraine1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0002315HP:0002076Migraine1CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040282 - Frequent449
HP:0002315HP:0002076Migraine1CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0002315HP:0002076Migraine1CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6HP:0040283 - Occasional449
HP:0002315HP:0002076Migraine1CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0002315HP:0002076Migraine1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0002315HP:0002076Migraine1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0002315HP:0002076Migraine1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0002315HP:0002076Migraine1COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1CSNK1D CL E G H14532452OMIM:615224Advanced sleep phase syndrome, familial, 22
HP:0002315HP:0002076Migraine1CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1DEPDC5 CL E G H968118423ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040284 - Very rare172
HP:0002315HP:0002331Recurrent paroxysmal headache1DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0002315HP:0002331Recurrent paroxysmal headache1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0002315HP:0002076Migraine1EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 13
HP:0002315HP:0002076Migraine1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0002315HP:0002076Migraine1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0002315HP:0002331Recurrent paroxysmal headache1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0002315HP:0002076Migraine1EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0002315HP:0002076Migraine1EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0002315HP:0002076Migraine1ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0002315HP:0002076Migraine1ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 113
HP:0002315HP:0002076Migraine1FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0002315HP:0002076Migraine1FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0002315HP:0002076Migraine1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0002315HP:0002076Migraine1FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040283 - Occasional145
HP:0002315HP:0002076Migraine1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0002315HP:0002331Recurrent paroxysmal headache1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0002315HP:0002076Migraine1FRMD5 CL E G H8497828214OMIM:620094
HP:0002315HP:0002076Migraine1GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0002315HP:0002076Migraine1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0002315HP:0002076Migraine1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0002315HP:0002076Migraine1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare23
HP:0002315HP:0002076Migraine1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare8
HP:0002315HP:0002076Migraine1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare21
HP:0002315HP:0002076Migraine1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0002315HP:0002076Migraine1GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0002315HP:0002076Migraine1HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0002315HP:0002076Migraine1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0002315HP:0002076Migraine1HTR1A CL E G H33505286OMIM:614674Periodic fever, menstrual cycle-dependent.2
HP:0002315HP:0002076Migraine1IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0002315HP:0002076Migraine1IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0002315HP:0002076Migraine1IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0002315HP:0002076Migraine1IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0002315HP:0002076Migraine1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002315HP:0002076Migraine1KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040283 - Occasional145
HP:0002315HP:0002076Migraine1KCNK18 CL E G H33856719439OMIM:613656MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR134
HP:0002315HP:0002331Recurrent paroxysmal headache1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0002315HP:0002076Migraine1KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040282 - Frequent196
HP:0002315HP:0002076Migraine1LGI1 CL E G H92116572ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040284 - Very rare75
HP:0002315HP:0002331Recurrent paroxysmal headache1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0002315HP:0002331Recurrent paroxysmal headache1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0002315HP:0002076Migraine1MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0002315HP:0002076Migraine1MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040282 - Frequent1819
HP:0002315HP:0002076Migraine1MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040282 - Frequent131
HP:0002315HP:0002076Migraine1MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040282 - Frequent2162
HP:0002315HP:0002076Migraine1MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040282 - Frequent2232
HP:0002315HP:0002076Migraine1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040282 - Frequent150
HP:0002315HP:0002076Migraine1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0002315HP:0002076Migraine1MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0002315HP:0002076Migraine1ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0002315HP:0002076Migraine1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0002315HP:0002331Recurrent paroxysmal headache1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0002315HP:0002076Migraine1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0002315HP:0002076Migraine1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0002315HP:0002076Migraine1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0002315HP:0002076Migraine1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0002315HP:0002076Migraine1NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040282 - Frequent144
HP:0002315HP:0002076Migraine1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040284 - Very rare214
HP:0002315HP:0002076Migraine1OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0002315HP:0002076Migraine1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0002315HP:0002076Migraine1PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 4HP:0040283 - Occasional28
HP:0002315HP:0002076Migraine1PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0002315HP:0002076Migraine1PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0002315HP:0002076Migraine1PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0002315HP:0002076Migraine1PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040282 - Frequent162
HP:0002315HP:0002076Migraine1PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040282 - Frequent56
HP:0002315HP:0002076Migraine1PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040282 - Frequent1121
HP:0002315HP:0002076Migraine1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0002315HP:0002076Migraine1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0002315HP:0002076Migraine1POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040283 - Occasional464
HP:0002315HP:0002076Migraine1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare45
HP:0002315HP:0002076Migraine1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002315HP:0002076Migraine1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0002315HP:0002076Migraine1PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0002315HP:0002076Migraine1PRRT2 CL E G H11247630500OMIM:605751Seizures, benign familial infantile, 2HP:0040283 - Occasional94
HP:0002315HP:0002076Migraine1RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0002315HP:0002076Migraine1RELA CL E G H59709955ORPHA:251636EpendymomaHP:0040282 - Frequent1
HP:0002315HP:0002076Migraine1RELN CL E G H56499957ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040284 - Very rare334
HP:0002315HP:0002331Recurrent paroxysmal headache1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0002315HP:0002331Recurrent paroxysmal headache1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0002315HP:0002076Migraine1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0002315HP:0002076Migraine1RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent1
HP:0002315HP:0002076Migraine1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125
HP:0002315HP:0002076Migraine1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare125
HP:0002315HP:0002076Migraine1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0002315HP:0002076Migraine1SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 31053
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0002315HP:0002331Recurrent paroxysmal headache1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0002315HP:0002076Migraine1SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent48
HP:0002315HP:0002076Migraine1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0002315HP:0002076Migraine1SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040283 - Occasional63
HP:0002315HP:0002076Migraine1SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0002315HP:0002331Recurrent paroxysmal headache1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare68
HP:0002315HP:0002076Migraine1SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0002315HP:0002076Migraine1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2HP:0040283 - Occasional255
HP:0002315HP:0002076Migraine1SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent12
HP:0002315HP:0002076Migraine1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0002315HP:0002076Migraine1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0002315HP:0002076Migraine1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0002315HP:0002076Migraine1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0002315HP:0002076Migraine1SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumorHP:0040282 - Frequent87
HP:0002315HP:0002076Migraine1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002315HP:0002076Migraine1SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0002315HP:0002076Migraine1SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0002315HP:0002076Migraine1STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0002315HP:0002076Migraine1STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0002315HP:0002076Migraine1STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0002315HP:0002076Migraine1TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040282 - Frequent253
HP:0002315HP:0002076Migraine1TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0002315HP:0002331Recurrent paroxysmal headache1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0002315HP:0002076Migraine1TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 17
HP:0002315HP:0002076Migraine1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0002315HP:0002076Migraine1TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040282 - Frequent56
HP:0002315HP:0002076Migraine1TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0002315HP:0002076Migraine1TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNF CL E G H45587481ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1TRNH CL E G H45647487ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNQ CL E G H45727495ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002076Migraine1TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1TRNW CL E G H45787501ORPHA:550MELASHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0002315HP:0002076Migraine1TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0002315HP:0002076Migraine1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0002315HP:0002076Migraine1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare113
HP:0002315HP:0002076Migraine1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0002315HP:0002076Migraine1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0002315HP:0002076Migraine1TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040283 - Occasional113
HP:0002315HP:0002076Migraine1UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0002315HP:0002331Recurrent paroxysmal headache1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0002315HP:0002331Recurrent paroxysmal headache1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0002315HP:0002076Migraine1ZFTA CL E G H6599828449ORPHA:251636EpendymomaHP:0040282 - Frequent
HP:0002315HP:0002077Migraine with aura2ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040281 - Very frequent239
HP:0002315HP:0002077Migraine with aura2ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0002315HP:0002077Migraine with aura2CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040281 - Very frequent449
HP:0002315HP:0002077Migraine with aura2CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0002315HP:0002077Migraine with aura2COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0002315HP:0002077Migraine with aura2CSNK1D CL E G H14532452OMIM:615224Advanced sleep phase syndrome, familial, 22
HP:0002315HP:0002083Migraine without aura2CSNK1D CL E G H14532452OMIM:615224Advanced sleep phase syndrome, familial, 22
HP:0002315HP:0002077Migraine with aura2EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 1.3
HP:0002315HP:0002083Migraine without aura2EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 1.3
HP:0002315HP:0002077Migraine with aura2ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 1.13
HP:0002315HP:0002083Migraine without aura2ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 1.13
HP:0002315HP:0002077Migraine with aura2KCNK18 CL E G H33856719439OMIM:613656MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR134
HP:0002315HP:0002083Migraine without aura2KCNK18 CL E G H33856719439OMIM:613656MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR134
HP:0002315HP:0002077Migraine with aura2NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040282 - Frequent144
HP:0002315HP:0002077Migraine with aura2PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040281 - Very frequent94
HP:0002315HP:0002077Migraine with aura2SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040281 - Very frequent1053
HP:0002315HP:0002077Migraine with aura2SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 3.1053
HP:0002315HP:0002083Migraine without aura2TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 1.7
HP:0002315HP:0002077Migraine with aura2TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 1.7
HP:0002315HP:0002083Migraine without aura2TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0002315HP:0002077Migraine with aura2TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56


Genes (328) :ACP5 ACSF3 ACTA1 ACTN4 ACVRL1 ADA2 ADAMTSL1 ADAR ADRA2B AIP AKT1 ALPK1 ALX4 AMACR AMER1 ANKFY1 ANLN AP2S1 APC APOL1 APP ARHGAP24 ARHGDIA ASXL1 ATP1A2 ATP1A3 ATP6 ATRX BAP1 BCAT2 BMPR1A BRAF C4A CACNA1A CACNA1D CASP10 CCM2 CCND1 CCR1 CD2AP CD46 CDC73 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CFH CFI CLCN2 CLCNKB CLTRN CNNM2 CNTN2 COL1A1 COL3A1 COL4A1 COL4A3 COL5A1 COL5A2 COPB1 COQ8B CORIN COX1 COX2 COX3 CPT2 CRB2 CSNK1D CTLA4 CTNNB1 CTNND2 CYB5R3 CYP11B1 CYP11B2 CYTB DAAM2 DEPDC5 DKK1 DLST DNAI1 DNM1L DNMT3A EDNRA ELANE EMP2 ENG EPAS1 EPCAM EPHB4 EPM2A EPOR ERAP1 ERF ESR1 F8 FAN1 FARSB FAS FASLG FGFR2 FGFR3 FH FLI1 FLT1 FRMD5 FUZ GABRG2 GAPVD1 GATA2 GBA1 GCDH GDF2 GNB2 GP1BA GP1BB GP9 GPR101 GRIN2A HACD1 HELLPAR HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HTR1A HTRA1 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R INF2 IRAK1 IRF3 ITGA7 JAG1 JAK2 KCNA1 KCNJ5 KCNK18 KIF1B KIF23 KIT KL KLRC4 KRAS KRIT1 KYNU LGI1 LIG3 LPIN2 LRP5 LSM11 MAGI2 MAOA MAP3K20 MARCHF6 MAX MDH2 MECR MEFV MEN1 MLH1 MLH3 MLX MPL MRPS2 MSH2 MSH6 MSX2 MTHFR MVK MYD88 MYL2 MYO1E MYORG NAGS ND1 ND4 ND5 ND6 NDP NF1 NF2 NFE2L2 NFIX NHLRC1 NLRP12 NLRP3 NOP56 NOTCH2 NOTCH3 NPHS1 NPHS2 NPPA NR3C1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OPA1 P4HA2 PAX2 PDCD10 PDGFB PDGFRB PEX11B PGK1 PIGA PIGT PIK3CA PLCE1 PMS1 PMS2 POLG POLG2 PRKCD PRORP PRRT2 PRTN3 PTEN PTPN22 PTPRO RACGAP1 RASA1 RASGRP1 RELA RELN RET RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF168 RNU7-1 RPS20 RRM2B RYR1 SAMD12 SAMHD1 SCN1A SCN5A SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA4A SH2B1 SH2B3 SLC12A3 SLC19A2 SLC1A3 SLC25A11 SLC25A4 SLC2A1 SLC39A14 SLC6A19 SMAD3 SMAD4 SMARCAL1 SMARCB1 SMARCE1 SMO SOST SPOP SPP1 SQOR SRPX2 SRSF2 STARD7 STAT4 STIM1 STOX1 SUFU TBC1D8B TBK1 TERT TET2 TGFB1 TGFBR2 THPO TICAM1 TLR3 TLR4 TLR7 TMEM127 TNF TNFRSF11A TNFRSF1A TP53 TPM2 TPM3 TRAF3 TRAF7 TREX1 TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TRPC6 TTR TWIST1 TWNK UBAC2 UNC93B1 USP48 USP8 VANGL1 VHL VSX1 WT1 YEATS2 ZFHX2 ZFTA

Diseases (213) :ORPHA:1855 ORPHA:289504 ORPHA:2020 ORPHA:656 ORPHA:774 OMIM:600376 OMIM:182410 ORPHA:820 OMIM:615688 ORPHA:521445 ORPHA:51 ORPHA:86814 ORPHA:963 ORPHA:2965 ORPHA:2495 OMIM:614979 ORPHA:60015 OMIM:614307 ORPHA:79095 OMIM:300373 OMIM:600740 ORPHA:99818 ORPHA:100006 ORPHA:324713 ORPHA:324703 ORPHA:98849 ORPHA:2131 ORPHA:569 OMIM:602481 ORPHA:644 ORPHA:96253 OMIM:618850 ORPHA:440437 ORPHA:54595 ORPHA:117 ORPHA:71518 OMIM:108500 ORPHA:97 OMIM:141500 OMIM:183086 ORPHA:369929 ORPHA:3261 OMIM:603284 ORPHA:221061 ORPHA:892 ORPHA:244242 ORPHA:99880 ORPHA:143 ORPHA:91347 ORPHA:652 ORPHA:404 OMIM:615651 ORPHA:358 ORPHA:2116 OMIM:613882 ORPHA:287 ORPHA:286 OMIM:175780 OMIM:619329 OMIM:619255 ORPHA:275555 ORPHA:550 OMIM:540000 ORPHA:228305 OMIM:615224 ORPHA:900 OMIM:250800 ORPHA:403 ORPHA:101046 ORPHA:268882 ORPHA:29072 OMIM:244400 ORPHA:98673 ORPHA:276621 OMIM:157300 ORPHA:2686 OMIM:187300 ORPHA:144 ORPHA:137667 ORPHA:501 ORPHA:90042 ORPHA:207 ORPHA:169805 ORPHA:169802 OMIM:613658 ORPHA:794 ORPHA:93262 ORPHA:370348 OMIM:620094 ORPHA:1136 ORPHA:1945 ORPHA:3226 ORPHA:2072 ORPHA:25 OMIM:619503 ORPHA:274 OMIM:300942 ORPHA:397 ORPHA:3287 OMIM:614674 OMIM:616779 ORPHA:93552 OMIM:616532 OMIM:619574 OMIM:133100 ORPHA:71493 ORPHA:729 ORPHA:37612 OMIM:160120 ORPHA:98809 ORPHA:251274 OMIM:613656 ORPHA:98870 ORPHA:79455 OMIM:617994 OMIM:116860 ORPHA:79155 OMIM:619780 ORPHA:77297 OMIM:607634 ORPHA:178377 OMIM:300615 ORPHA:508093 OMIM:249100 OMIM:617950 OMIM:604757 OMIM:168500 ORPHA:395 OMIM:260920 ORPHA:343 ORPHA:33226 OMIM:618317 ORPHA:927 ORPHA:649 ORPHA:97685 ORPHA:363700 OMIM:101000 OMIM:617744 ORPHA:420179 OMIM:611762 ORPHA:1451 OMIM:617772 OMIM:120100 ORPHA:47045 ORPHA:276198 ORPHA:955 OMIM:125310 ORPHA:136 ORPHA:1344 ORPHA:1215 OMIM:603285 OMIM:615483 OMIM:615007 OMIM:614920 ORPHA:713 OMIM:300653 ORPHA:447 OMIM:615399 ORPHA:254892 ORPHA:94125 OMIM:607459 ORPHA:70595 OMIM:619425 OMIM:619737 OMIM:605751 ORPHA:65285 ORPHA:90307 ORPHA:251636 OMIM:171400 ORPHA:329336 ORPHA:420741 ORPHA:466650 OMIM:609634 OMIM:619259 OMIM:115310 OMIM:605373 OMIM:168000 ORPHA:261222 ORPHA:49827 ORPHA:209967 OMIM:612656 OMIM:615418 ORPHA:71277 OMIM:601042 OMIM:612126 ORPHA:53583 OMIM:144755 ORPHA:284984 OMIM:613795 OMIM:242900 ORPHA:1830 ORPHA:99966 OMIM:122860 OMIM:269500 OMIM:618829 OMIM:619221 OMIM:607876 OMIM:185070 ORPHA:1930 OMIM:131300 OMIM:301080 OMIM:602080 OMIM:142680 ORPHA:32960 OMIM:260500 ORPHA:247691 OMIM:192315 OMIM:105210 OMIM:271245 OMIM:600145 OMIM:263400 OMIM:614195 OMIM:147430
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.