Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002315 | HP:0002315 | Headache | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | | | | 68 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | | | | 22 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ADRA2B CL E G H | 151 | 282 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:60015 | Enlarged parietal foramina | HP:0040283 - Occasional | | | 132 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | HP:0040283 - Occasional | | | 34 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002315 | HP:0002315 | Headache | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | HP:0040283 - Occasional | | | 6 | | |
HP:0002315 | HP:0002315 | Headache | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040283 - Occasional | | | 3179 | | |
HP:0002315 | HP:0002315 | Headache | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | APP CL E G H | 351 | 620 | ORPHA:100006 | ABeta amyloidosis, Dutch type | HP:0040281 - Very frequent | | | 74 | | |
HP:0002315 | HP:0002315 | Headache | 0 | APP CL E G H | 351 | 620 | ORPHA:324713 | ABeta amyloidosis, Italian type | | | | 74 | | |
HP:0002315 | HP:0002315 | Headache | 0 | APP CL E G H | 351 | 620 | ORPHA:324703 | ABetaL34V amyloidosis | | | | 74 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 169 | | |
HP:0002315 | HP:0002315 | Headache | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0002315 | HP:0002315 | Headache | 0 | BCAT2 CL E G H | 587 | 977 | OMIM:618850 | HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | | | | 385 | | |
HP:0002315 | HP:0002315 | Headache | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0002315 | HP:0002315 | Headache | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 276 | | |
HP:0002315 | HP:0002315 | Headache | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:71518 | Benign paroxysmal torticollis of infancy | | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | | | | 449 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CCM2 CL E G H | 83605 | 21708 | OMIM:603284 | Cerebral cavernous malformations-2 | . | | | 37 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CCM2 CL E G H | 83605 | 21708 | ORPHA:221061 | Familial cerebral cavernous malformation | HP:0040281 - Very frequent | | | 37 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 105 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 636 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040283 - Occasional | | | 44 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | . | | | 44 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:613882 | Hypomagnesemia 6, renal | . | | | 47 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CNTN2 CL E G H | 6900 | 2172 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 9 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 373 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 161 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 660 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 325 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 15 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 112 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 73 | | |
HP:0002315 | HP:0002315 | Headache | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | | | | 172 | | |
HP:0002315 | HP:0002315 | Headache | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0002315 | HP:0002315 | Headache | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0002315 | HP:0002315 | Headache | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040281 - Very frequent | | | 79 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | | | | 170 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | HP:0040282 - Frequent | | | 83 | | |
HP:0002315 | HP:0002315 | Headache | 0 | EPOR CL E G H | 2057 | 3416 | ORPHA:90042 | Primary familial polycythemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | | | | 13 | | |
HP:0002315 | HP:0002315 | Headache | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040283 - Occasional | | | 303 | | |
HP:0002315 | HP:0002315 | Headache | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040283 - Occasional | | | 303 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | | | | 15 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040283 - Occasional | | | 175 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93262 | Crouzon syndrome-acanthosis nigricans syndrome | | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 11 | | |
HP:0002315 | HP:0002315 | Headache | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | | | | 23 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | | | | 8 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | | | | 21 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | . | | | 34 | | |
HP:0002315 | HP:0002315 | Headache | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0002315 | HP:0002315 | Headache | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0002315 | HP:0002315 | Headache | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | | | | 31 | | |
HP:0002315 | HP:0002315 | Headache | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0002315 | HP:0002315 | Headache | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | IRF3 CL E G H | 3661 | 6118 | OMIM:616532 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | . | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0002315 | HP:0002315 | Headache | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0002315 | HP:0002315 | Headache | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0002315 | HP:0002315 | Headache | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 57 | | |
HP:0002315 | HP:0002315 | Headache | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040282 - Frequent | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:98809 | Paroxysmal kinesigenic dyskinesia | | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040283 - Occasional | | | 128 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KCNK18 CL E G H | 338567 | 19439 | OMIM:613656 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 | | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | HP:0040283 - Occasional | | | 327 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | | | | 196 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KRIT1 CL E G H | 889 | 1573 | OMIM:116860 | Cerebral cavernous malformations 1 | . | | | 92 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KRIT1 CL E G H | 889 | 1573 | ORPHA:221061 | Familial cerebral cavernous malformation | HP:0040281 - Very frequent | | | 92 | | |
HP:0002315 | HP:0002315 | Headache | 0 | KYNU CL E G H | 8942 | 6469 | ORPHA:79155 | Hydroxykynureninuria | HP:0040282 - Frequent | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | LGI1 CL E G H | 9211 | 6572 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | | | | 75 | | |
HP:0002315 | HP:0002315 | Headache | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0002315 | HP:0002315 | Headache | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:607634 | Osteopetrosis, autosomal dominant 1 | | | | 125 | | |
HP:0002315 | HP:0002315 | Headache | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0002315 | HP:0002315 | Headache | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | . | | | 22 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MARCHF6 CL E G H | 10299 | 30550 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | | | | 1819 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | | | | 131 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 97 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | | | | 2162 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | | | | 2232 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:604757 | Craniosynostosis 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MSX2 CL E G H | 4488 | 7392 | ORPHA:60015 | Enlarged parietal foramina | HP:0040283 - Occasional | | | 45 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:168500 | Parietal foramina | . | | | 45 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | | | | 39 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040284 - Very rare | | | 1952 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | . | | | 220 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | | | | 40 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | HP:0040282 - Frequent | | | 77 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | | | | 217 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040282 - Frequent | | | 217 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 144 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 13 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 79 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0002315 | HP:0002315 | Headache | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0002315 | HP:0002315 | Headache | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PDCD10 CL E G H | 11235 | 8761 | OMIM:603285 | Cerebral cavernous malformations 3 | HP:0040282 - Frequent | | | 21 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PDCD10 CL E G H | 11235 | 8761 | ORPHA:221061 | Familial cerebral cavernous malformation | HP:0040281 - Very frequent | | | 21 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | | | | 9 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | | | | 28 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615399 | Paroxysmal nocturnal hemoglobinuria 2 | . | | | 12 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | | | | 162 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | | | | 56 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | | | | 1121 | | |
HP:0002315 | HP:0002315 | Headache | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0002315 | HP:0002315 | Headache | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0002315 | HP:0002315 | Headache | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0002315 | HP:0002315 | Headache | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0002315 | HP:0002315 | Headache | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0002315 | HP:0002315 | Headache | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98809 | Paroxysmal kinesigenic dyskinesia | | | | 94 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:605751 | Seizures, benign familial infantile, 2 | | | | 94 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | HP:0040281 - Very frequent | | | 948 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | | | | 334 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0002315 | HP:0002315 | Headache | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040282 - Frequent | | | 1200 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SAMD12 CL E G H | 401474 | 31750 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | | | | 1053 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 1134 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | | | | 237 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | | | | 48 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | | | | 63 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040282 - Frequent | | | 255 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:601042 | Dystonia 9 | . | | | 255 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | HP:0040282 - Frequent | | | 255 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | | | | 12 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:99966 | Atypical teratoid rhabdoid tumor | | | | 87 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | | | | 31 | | |
HP:0002315 | HP:0002315 | Headache | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | | | | 253 | | |
HP:0002315 | HP:0002315 | Headache | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 23 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | | | | 7 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 911 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | . | | | 911 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | | | | 56 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0002315 | HP:0002315 | Headache | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0002315 | HP:0002315 | Headache | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |
HP:0002315 | HP:0002315 | Headache | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040283 - Occasional | | | 7 | | |
HP:0002315 | HP:0002315 | Headache | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | . | | | 111 | | |
HP:0002315 | HP:0002315 | Headache | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
HP:0002315 | HP:0002315 | Headache | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0002315 | HP:0002315 | Headache | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0002315 | HP:0002315 | Headache | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0002315 | HP:0002315 | Headache | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0002315 | HP:0002315 | Headache | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0002315 | HP:0002315 | Headache | 0 | YEATS2 CL E G H | 55689 | 25489 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0002315 | HP:0002315 | Headache | 0 | ZFHX2 CL E G H | 85446 | 20152 | OMIM:147430 | Marsili syndrome | | | | | | |
HP:0002315 | HP:0002315 | Headache | 0 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | | | | | | |
HP:0002315 | HP:0012199 | Cluster headache | 1 | CL E G H | | | | | | | | | | |
HP:0002315 | HP:0030907 | Thunderclap headache | 1 | CL E G H | | | | | | | | | | |
HP:0002315 | HP:0012459 | Hypnic headache | 1 | CL E G H | | | | | | | | | | |
HP:0002315 | HP:0012318 | Occipital neuralgia | 1 | CL E G H | | | | | | | | | | |
HP:0002315 | HP:0012228 | Tension-type headache | 1 | CL E G H | | | | | | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040283 - Occasional | | | 68 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 178 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | . | | | 44 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | APP CL E G H | 351 | 620 | ORPHA:324713 | ABeta amyloidosis, Italian type | HP:0040281 - Very frequent | | | 74 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | APP CL E G H | 351 | 620 | ORPHA:324703 | ABetaL34V amyloidosis | HP:0040282 - Frequent | | | 74 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 385 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:71518 | Benign paroxysmal torticollis of infancy | HP:0040282 - Frequent | | | 449 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | HP:0040282 - Frequent | | | 449 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | HP:0040283 - Occasional | | | 449 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | | | | 2 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 172 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | | | | 3 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 186 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 170 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | | | | 13 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93262 | Crouzon syndrome-acanthosis nigricans syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 8 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040284 - Very rare | | | 23 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040284 - Very rare | | | 8 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040284 - Very rare | | | 21 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 434 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | . | | | 2 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 60 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:98809 | Paroxysmal kinesigenic dyskinesia | HP:0040283 - Occasional | | | 145 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | KCNK18 CL E G H | 338567 | 19439 | OMIM:613656 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 | | | | 4 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | LGI1 CL E G H | 9211 | 6572 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 75 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 281 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1819 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2162 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2232 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040282 - Frequent | | | 150 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040284 - Very rare | | | 214 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | HP:0040283 - Occasional | | | 28 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | | | | 4 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1121 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040283 - Occasional | | | 464 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 45 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98809 | Paroxysmal kinesigenic dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | PRRT2 CL E G H | 112476 | 30500 | OMIM:605751 | Seizures, benign familial infantile, 2 | HP:0040283 - Occasional | | | 94 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | HP:0040282 - Frequent | | | 1 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 334 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 1 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 125 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | | | | 1053 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 48 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 68 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:601042 | Dystonia 9 | . | | | 255 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | HP:0040283 - Occasional | | | 255 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | HP:0040281 - Very frequent | | | 12 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 504 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:99966 | Atypical teratoid rhabdoid tumor | HP:0040282 - Frequent | | | 87 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 50 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 253 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | | | | 7 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040282 - Frequent | | | 56 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 113 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0002315 | HP:0002331 | Recurrent paroxysmal headache | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0002315 | HP:0002076 | Migraine | 1 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | HP:0040282 - Frequent | | | | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040281 - Very frequent | | | 239 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040281 - Very frequent | | | 449 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0002315 | HP:0002083 | Migraine without aura | 2 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | | | | 2 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | | | | 2 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 3 | | |
HP:0002315 | HP:0002083 | Migraine without aura | 2 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 3 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 13 | | |
HP:0002315 | HP:0002083 | Migraine without aura | 2 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 13 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | KCNK18 CL E G H | 338567 | 19439 | OMIM:613656 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 | | | | 4 | | |
HP:0002315 | HP:0002083 | Migraine without aura | 2 | KCNK18 CL E G H | 338567 | 19439 | OMIM:613656 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 | | | | 4 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040281 - Very frequent | | | 94 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040281 - Very frequent | | | 1053 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | . | | | 1053 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 7 | | |
HP:0002315 | HP:0002083 | Migraine without aura | 2 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 7 | | |
HP:0002315 | HP:0002077 | Migraine with aura | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |
HP:0002315 | HP:0002083 | Migraine without aura | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |