Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 1 | | | 4162 | 600287 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 102 | 10535 | 607690 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 343 | 10985 | 603861 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 1 | | | 4162 | 600287 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 1 | | | 4162 | 600287 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 1 | | | 4162 | 600287 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 102 | 10535 | 607690 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 102 | 10535 | 607690 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 102 | 10535 | 607690 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 343 | 10985 | 603861 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 343 | 10985 | 603861 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 343 | 10985 | 603861 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 1 | | | 4162 | 600287 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 102 | 10535 | 607690 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 343 | 10985 | 603861 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 0 | | 35 | 24160 | 612051 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 0 | | 465 | 7737 | 162230 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 0 | | 2506 | 10519 | 604490 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | VPS37A CL E G H | 137492 | 319199 | | | | ORPHA | 0 | | 198 | 24928 | 609927 |
HP:0002495 | HP:0002495 | Impaired vibratory sensation | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 0 | | 35 | 24160 | 612051 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 0 | | 35 | 24160 | 612051 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 0 | | 35 | 24160 | 612051 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 0 | | 465 | 7737 | 162230 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 0 | | 465 | 7737 | 162230 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 0 | | 465 | 7737 | 162230 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 0 | | 2506 | 10519 | 604490 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 0 | | 2506 | 10519 | 604490 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 0 | | 2506 | 10519 | 604490 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | VPS37A CL E G H | 137492 | 319199 | | | | ORPHA | 0 | | 198 | 24928 | 609927 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | VPS37A CL E G H | 137492 | 319199 | | | | ORPHA | 0 | | 198 | 24928 | 609927 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | VPS37A CL E G H | 137492 | 319199 | | | | ORPHA | 0 | | 198 | 24928 | 609927 |
HP:0002495 | HP:0006886 | Impaired distal vibration sensation | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |
HP:0002495 | HP:0006944 | Abolished vibration sense | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |
HP:0002495 | HP:0002166 | Impaired vibration sensation in the lower limbs | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 0 | | 437 | 9722 | 138250 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 0 | | 2 | 32925 | 613289 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 0 | | 79 | 10561 | 603680 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 0 | | 35 | 24160 | 612051 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 0 | | 465 | 7737 | 162230 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 0 | | 2506 | 10519 | 604490 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | VPS37A CL E G H | 137492 | 319199 | | | | ORPHA | 0 | | 198 | 24928 | 609927 |
HP:0002495 | HP:0006938 | Impaired vibration sensation at ankles | 2 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |