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:0000616 | HP:0000616 | Miosis | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | . | | | 9 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | . | | | 43 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | DNMBP CL E G H | 23268 | 30373 | OMIM:618415 | Cataract 48 | . | | | | | |
HP:0000616 | HP:0000616 | Miosis | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000616 | HP:0000616 | Miosis | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040282 - Frequent | | | | | |
HP:0000616 | HP:0000616 | Miosis | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0000616 | HP:0000616 | Miosis | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0000616 | HP:0000616 | Miosis | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | . | | | 20 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0000616 | HP:0000616 | Miosis | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |