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:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | . | | | 665 | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0002507 | HP:0002507 | Semilobar holoprosencephaly | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |