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:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | | | | 89 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | | | | 57 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | | | | 3 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:139480 | Autosomal recessive spastic paraplegia type 39 | | | | 103 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | | | | 103 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | | | | 171 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0007344 | HP:0007344 | Atrophy/Degeneration involving the spinal cord | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040283 - Occasional | | | 57 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040282 - Frequent | | | 44 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:139480 | Autosomal recessive spastic paraplegia type 39 | HP:0040282 - Frequent | | | 103 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | | | | 103 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040283 - Occasional | | | 287 | | |
HP:0007344 | HP:0006827 | Atrophy of the spinal cord | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040283 - Occasional | | | 171 | | |
HP:0007344 | HP:0010873 | Cervical spinal cord atrophy | 2 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0007344 | HP:0010873 | Cervical spinal cord atrophy | 2 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0007344 | HP:0010873 | Cervical spinal cord atrophy | 2 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0007344 | HP:0010873 | Cervical spinal cord atrophy | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0007344 | HP:0010873 | Cervical spinal cord atrophy | 2 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040283 - Occasional | | | 171 | | |