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:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | | | | 89 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | | | | 1 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | | | | 1 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | | | | 114 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | | | | 4 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | | | | 18 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | | | | | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | | | | 87 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | 25 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | | | | | | |
HP:0007054 | HP:0007054 | Proximal hyperreflexia | 0 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | | | | 7 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040281 - Very frequent | | | 89 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040281 - Very frequent | | | 89 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | HP:0040282 - Frequent | | | 1 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | . | | | 1 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040282 - Frequent | | | 114 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | HP:0040282 - Frequent | | | 4 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040281 - Very frequent | | | 18 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040281 - Very frequent | | | 7 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | HP:0040282 - Frequent | | | 46 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040282 - Frequent | | | 16 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040283 - Occasional | | | | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040283 - Occasional | | | 25 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0007054 | HP:0007083 | Hyperactive patellar reflex | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | HP:0040283 - Occasional | | | 208 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040282 - Frequent | | | 287 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040283 - Occasional | | | | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | | | | | | |
HP:0007054 | HP:0007350 | Hyperreflexia in upper limbs | 1 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040281 - Very frequent | | | 7 | | |
HP:0007054 | HP:0033205 | Biceps hyperreflexia | 2 | CL E G H | | | | | | | | | | |
HP:0007054 | HP:0033203 | Brachioradialis hyperreflexia | 2 | CL E G H | | | | | | | | | | |
HP:0007054 | HP:0033204 | Triceps hyperreflexia | 2 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |