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:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 94 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 58 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 129 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 39 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 5 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 124 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 4 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 63 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 54 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 42 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 126 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | | | | 159 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | | | | 32 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 107 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | | | | 107 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | | | | 47 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 32 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 66 | | |
HP:0030639 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 0 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 104 | | |
HP:0030639 | HP:0030642 | Fundus albipunctatus | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | . | | | 159 | | |
HP:0030639 | HP:0030642 | Fundus albipunctatus | 1 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | . | | | 32 | | |
HP:0030639 | HP:0030642 | Fundus albipunctatus | 1 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | . | | | 107 | | |
HP:0030639 | HP:0030642 | Fundus albipunctatus | 1 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | . | | | 47 | | |