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:0002917 | HP:0002917 | Hypomagnesemia | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | HP:0040282 - Frequent | | | 4 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 272 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:613882 | Hypomagnesemia 6, renal | . | | | 47 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:616418 | Hypomagnesemia, seizures, and mental retardation | . | | | 47 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | EGF CL E G H | 1950 | 3229 | OMIM:611718 | HYPOMAGNESEMIA 4, RENAL; HOMG4 | | | | 73 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | . | | | 17 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | HP:0040283 - Occasional | | | 51 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 16 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | HP:0040283 - Occasional | | | 51 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | . | | | 52 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0002917 | HP:0002917 | Hypomagnesemia | 0 | TRPM6 CL E G H | 140803 | 17995 | OMIM:602014 | Hypomagnesemia 1, intestinal | . | | | 85 | | |