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:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | | | | 301 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | | | | 102 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:609322 | Rhabdoid tumor predisposition syndrome 1 | | | | 87 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | | | | 911 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:2807 | Papilloma of choroid plexus | | | | 911 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | | | | 911 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0007376 | HP:0007376 | Abnormal choroid plexus morphology | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0007376 | HP:0012422 | Villous hypertrophy of choroid plexus | 1 | CL E G H | | | | | | | | | | |
HP:0007376 | HP:0030392 | Choroid plexus carcinoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0007376 | HP:0030392 | Choroid plexus carcinoma | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0007376 | HP:0006960 | Choroid plexus calcification | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | . | | | 50 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0007376 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0007376 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0007376 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0007376 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0007376 | HP:0030392 | Choroid plexus carcinoma | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0007376 | HP:0200022 | Choroid plexus papilloma | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | HP:0040283 - Occasional | | | 102 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0007376 | HP:0030392 | Choroid plexus carcinoma | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:609322 | Rhabdoid tumor predisposition syndrome 1 | . | | | 87 | | |
HP:0007376 | HP:0030392 | Choroid plexus carcinoma | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | | | | 911 | | |
HP:0007376 | HP:0030392 | Choroid plexus carcinoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0007376 | HP:0200022 | Choroid plexus papilloma | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | . | | | 911 | | |
HP:0007376 | HP:0200022 | Choroid plexus papilloma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:2807 | Papilloma of choroid plexus | HP:0040281 - Very frequent | | | 911 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0007376 | HP:0002190 | Choroid plexus cyst | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040282 - Frequent | | | 5 | | |