Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1220 | 61 | 300371 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 810 | 22197 | 613653 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | CPT1C CL E G H | 126129 | 444099 | | | | ORPHA | 1 | | 133 | 18540 | 608846 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 333 | 2652 | 603711 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 1 | | 600 | 4180 | 607839 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 480 | 4879 | 606873 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HMBS CL E G H | 3145 | 176000 | Acute intermittent porphyria | 176000 | C0162565 | OMIM | 1 | | 356 | 4982 | 609806 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HPSE2 CL E G H | 60495 | 2704 | | | | ORPHA | 1 | | 107 | 18374 | 613469 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HSPD1 CL E G H | 3329 | 100994 | | | | ORPHA | 1 | | 207 | 5261 | 118190 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HSPD1 CL E G H | 3329 | 605280 | Spastic paraplegia 13 | 605280 | C1854467 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | IFT57 CL E G H | 55081 | 617927 | OROFACIODIGITAL SYNDROME XVIII | 617927 | CN244546 | OMIM | 1 | | 94 | 17367 | 606621 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | LRIG2 CL E G H | 9860 | 2704 | | | | ORPHA | 1 | | 64 | 20889 | 608869 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | MNX1 CL E G H | 3110 | 176450 | Currarino triad | 176450 | C1531773 | OMIM | 1 | | 212 | 4979 | 142994 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 817 | 29433 | 300524 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | NIPA1 CL E G H | 123606 | 600363 | Spastic paraplegia 6 | 600363 | C1838192 | OMIM | 1 | | 576 | 17043 | 608145 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PEX11B CL E G H | 8799 | 614920 | Peroxisome biogenesis disorder 14B | 614920 | C3554055 | OMIM | 1 | | 350 | 8853 | 603867 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 365 | 13993 | 616639 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | RTN2 CL E G H | 6253 | 100993 | | | | ORPHA | 1 | | 184 | 10468 | 603183 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | RTN2 CL E G H | 6253 | 604805 | Spastic paraplegia 12 | 604805 | C1858106 | OMIM | 1 | | 184 | 10468 | 603183 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 2506 | 10519 | 604490 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 355 | 10923 | 300095 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SLC9A6 CL E G H | 10479 | 300243 | Christianson syndrome | 300243 | C2678194 | OMIM | 1 | | 536 | 11079 | 300231 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1014 | 11233 | 604277 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 85 | 12449 | 604142 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 24 | 15511 | 600533 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | WASHC5 CL E G H | 9897 | 100989 | | | | ORPHA | 1 | | 527 | 28984 | 610657 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1220 | 61 | 300371 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 810 | 22197 | 613653 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | CPT1C CL E G H | 126129 | 444099 | | | | ORPHA | 1 | | 133 | 18540 | 608846 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 333 | 2652 | 603711 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 1 | | 600 | 4180 | 607839 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 480 | 4879 | 606873 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HMBS CL E G H | 3145 | 176000 | Acute intermittent porphyria | 176000 | C0162565 | OMIM | 1 | | 356 | 4982 | 609806 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HPSE2 CL E G H | 60495 | 2704 | | | | ORPHA | 1 | | 107 | 18374 | 613469 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HSPD1 CL E G H | 3329 | 100994 | | | | ORPHA | 1 | | 207 | 5261 | 118190 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HSPD1 CL E G H | 3329 | 605280 | Spastic paraplegia 13 | 605280 | C1854467 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | IFT57 CL E G H | 55081 | 617927 | OROFACIODIGITAL SYNDROME XVIII | 617927 | CN244546 | OMIM | 1 | | 94 | 17367 | 606621 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | LRIG2 CL E G H | 9860 | 2704 | | | | ORPHA | 1 | | 64 | 20889 | 608869 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | MNX1 CL E G H | 3110 | 176450 | Currarino triad | 176450 | C1531773 | OMIM | 1 | | 212 | 4979 | 142994 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 817 | 29433 | 300524 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | NIPA1 CL E G H | 123606 | 600363 | Spastic paraplegia 6 | 600363 | C1838192 | OMIM | 1 | | 576 | 17043 | 608145 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PEX11B CL E G H | 8799 | 614920 | Peroxisome biogenesis disorder 14B | 614920 | C3554055 | OMIM | 1 | | 350 | 8853 | 603867 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 365 | 13993 | 616639 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | RTN2 CL E G H | 6253 | 100993 | | | | ORPHA | 1 | | 184 | 10468 | 603183 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | RTN2 CL E G H | 6253 | 604805 | Spastic paraplegia 12 | 604805 | C1858106 | OMIM | 1 | | 184 | 10468 | 603183 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 2506 | 10519 | 604490 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 355 | 10923 | 300095 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SLC9A6 CL E G H | 10479 | 300243 | Christianson syndrome | 300243 | C2678194 | OMIM | 1 | | 536 | 11079 | 300231 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1014 | 11233 | 604277 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 85 | 12449 | 604142 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 24 | 15511 | 600533 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | WASHC5 CL E G H | 9897 | 100989 | | | | ORPHA | 1 | | 527 | 28984 | 610657 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 437 | 9722 | 138250 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 0 | | 953 | 713 | 607574 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 0 | | 552 | 1052 | 601248 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 445 | 1394 | 604065 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 0 | | 249 | 29106 | 615003 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 0 | | 24 | 2891 | 605189 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 0 | | 885 | 2974 | 602378 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 995 | 2976 | 126375 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 0 | | 312 | 21197 | 611026 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 0 | | 312 | 21197 | 611026 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 0 | | 107 | 21033 | 610876 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 216 | 6235 | 176264 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 0 | | 585 | 23573 | 616661 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 0 | | 156 | 26190 | 611089 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 0 | | 78 | 7566 | 159991 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 0 | | 576 | 17043 | 608145 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 0 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 0 | | 5062 | 10483 | 180901 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 0 | | 1157 | 10542 | 603560 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 0 | | 542 | 11280 | 601530 |
HP:0000020 | HP:0000020 | Urinary incontinence | 0 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 0 | | 473 | 12666 | 601023 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 437 | 9722 | 138250 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 0 | | 953 | 713 | 607574 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 0 | | 552 | 1052 | 601248 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 445 | 1394 | 604065 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 0 | | 249 | 29106 | 615003 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 0 | | 24 | 2891 | 605189 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 0 | | 885 | 2974 | 602378 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 995 | 2976 | 126375 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 0 | | 312 | 21197 | 611026 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 0 | | 312 | 21197 | 611026 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 0 | | 107 | 21033 | 610876 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 216 | 6235 | 176264 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 0 | | 585 | 23573 | 616661 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 0 | | 156 | 26190 | 611089 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 0 | | 78 | 7566 | 159991 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 0 | | 576 | 17043 | 608145 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 0 | | 598 | 9498 | 176801 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 0 | | 5062 | 10483 | 180901 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 0 | | 1157 | 10542 | 603560 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 0 | | 542 | 11280 | 601530 |
HP:0000020 | HP:0010992 | Stress urinary incontinence | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 0 | | 473 | 12666 | 601023 |