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:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | | | | 65 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | | | | 5 | | |
HP:0012681 | HP:0012681 | Abnormal pineal morphology | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0012681 | HP:0012682 | Pineal gland calcification | 1 | CL E G H | | | | | | | | | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0012681 | HP:0012684 | Abnormal pineal volume | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040284 - Very rare | | | 65 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040284 - Very rare | | | 4 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0012681 | HP:0012687 | Agenesis of pineal gland | 1 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | . | | | 5 | | |
HP:0012681 | HP:0012683 | Pineal cyst | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0012681 | HP:0012685 | Decreased pineal volume | 2 | CL E G H | | | | | | | | | | |
HP:0012681 | HP:0012686 | Increased pineal volume | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |