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:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040283 - Occasional | | | 100 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | | | | 105 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 16 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | HP:0040283 - Occasional | | | 145 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040283 - Occasional | | | 143 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | | | | 12 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | | | | 2 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | | | | 64 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0002339 | HP:0002339 | Abnormal caudate nucleus morphology | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002339 | HP:0012644 | Increased caudate lactate level | 1 | CL E G H | | | | | | | | | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | | | | 105 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | | | | 12 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | | | | 2 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002339 | HP:0034180 | Fusion of the caudate and putamen | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | | | | 64 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0002339 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040283 - Occasional | | | 143 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | HP:0040284 - Very rare | | | 12 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0002339 | HP:0002340 | Caudate atrophy | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |