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:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040281 - Very frequent | | | 88 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616490 | Joubert syndrome 23 | HP:0040283 - Occasional | | | 24 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | . | | | 11 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040281 - Very frequent | | | 948 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | . | | | 3 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | RXYLT1 CL E G H | 10329 | 13530 | OMIM:615041 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 | . | | | | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0007033 | HP:0007033 | Cerebellar dysplasia | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0007033 | HP:0033745 | Dysplasia of the superior cerebellar vermis | 1 | CL E G H | | | | | | | | | | |
HP:0007033 | HP:0033744 | Global cerebellar dysplasia | 1 | CL E G H | | | | | | | | | | |
HP:0007033 | HP:0020185 | Superior cerebellar dysplasia | 1 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |