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:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 415 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 151 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | . | | | 151 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | FGF23 CL E G H | 8074 | 3680 | OMIM:617993 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2 | | | | 51 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040282 - Frequent | | | 47 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:616963 | HYPERCALCEMIA, INFANTILE, 2; HCINF2 | | | | 47 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040282 - Frequent | | | 52 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0012408 | HP:0012408 | Medullary nephrocalcinosis | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |