Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003401 | HP:0003401 | Paresthesia | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | APP CL E G H | 351 | 620 | ORPHA:324703 | ABetaL34V amyloidosis | HP:0040281 - Very frequent | | | 74 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 272 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | . | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040283 - Occasional | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | CUBN CL E G H | 8029 | 2548 | OMIM:261100 | Megaloblastic anemia 1 | . | | | 273 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 172 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | | | | 160 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 29 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 16 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:615361 | Hypocalcemia, autosomal dominant 2 | . | | | 16 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 101 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 434 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 2 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 57 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040283 - Occasional | | | 93 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 173 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:2398 | Multiple symmetric lipomatosis | HP:0040282 - Frequent | | | 203 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 97 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 97 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:236250 | Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity | . | | | 183 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040283 - Occasional | | | 47 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | . | | | 72 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 4 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 7 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040282 - Frequent | | | 163 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:640 | Hereditary neuropathy with liability to pressure palsies | HP:0040282 - Frequent | | | 79 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040282 - Frequent | | | 94 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SEPTIN9 CL E G H | 10801 | 7323 | ORPHA:2901 | Neuralgic amyotrophy | HP:0040282 - Frequent | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040281 - Very frequent | | | 64 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:601042 | Dystonia 9 | . | | | 255 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | HP:0040282 - Frequent | | | 255 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040282 - Frequent | | | 255 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 50 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 86 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 23 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 911 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040284 - Very rare | | | 46 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040284 - Very rare | | | 31 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 41 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003401 | HP:0003401 | Paresthesia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 7 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0003401 | HP:0031006 | Acroparesthesia | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0003401 | HP:0033660 | Hand paresthesia | 2 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | |
HP:0003401 | HP:0033660 | Hand paresthesia | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0003401 | HP:0033660 | Hand paresthesia | 2 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |