Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | | | | 92 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | | | | 118 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | | | | 89 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | | | | 199 | | |
HP:0011422 | HP:0011422 | Abnormal blood chloride concentration | 0 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | | | | 71 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0011422 | HP:0011423 | Hyperchloremia | 1 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | . | | | 92 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0011422 | HP:0011423 | Hyperchloremia | 1 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | . | | | 118 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0011422 | HP:0003113 | Hypochloremia | 1 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0011422 | HP:0011423 | Hyperchloremia | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | . | | | 199 | | |
HP:0011422 | HP:0011423 | Hyperchloremia | 1 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | . | | | 71 | | |