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:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 67 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 76 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 356 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 2157 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 73 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040282 - Frequent | | | 96 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:3000062 | HP:3000062 | Abnormal internal carotid artery morphology | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 178 | | |
HP:3000062 | HP:0410006 | Abnormality of ophthalmic artery | 1 | CL E G H | | | | | | | | | | |
HP:3000062 | HP:0005290 | Internal carotid artery hypoplasia | 1 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:3000062 | HP:0005290 | Internal carotid artery hypoplasia | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040284 - Very rare | | | 165 | | |
HP:3000062 | HP:3000039 | Abnormality of dorsal nasal artery | 2 | CL E G H | | | | | | | | | | |
HP:3000062 | HP:3000032 | Abnormality of central retinal artery | 2 | CL E G H | | | | | | | | | | |
HP:3000062 | HP:3000031 | Abnormality of anterior ethmoidal artery | 2 | CL E G H | | | | | | | | | | |
HP:3000062 | HP:0025342 | Central retinal artery occlusion | 3 | CL E G H | | | | | | | | | | |