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:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | . | | | 39 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 4 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | | | | 2 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PER2 CL E G H | 8864 | 8846 | OMIM:604348 | Advanced sleep phase syndrome, familial, 1 | | | | 2 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PER3 CL E G H | 8863 | 8847 | OMIM:616882 | Advanced sleep phase syndrome, familial, 3 | | | | 3 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | . | | | 59 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 37 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | TIMELESS CL E G H | 8914 | 11813 | OMIM:620015 | | | | | | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 278 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0006979 | HP:0006979 | Sleep-wake cycle disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0006979 | HP:0031874 | Late chronotype | 1 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0006979 | HP:0031873 | Early chronotype | 1 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | . | | | 2 | | |
HP:0006979 | HP:0031849 | Sleep-wake inversion | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0006979 | HP:0031873 | Early chronotype | 1 | PER2 CL E G H | 8864 | 8846 | OMIM:604348 | Advanced sleep phase syndrome, familial, 1 | . | | | 2 | | |
HP:0006979 | HP:0031873 | Early chronotype | 1 | PER3 CL E G H | 8863 | 8847 | OMIM:616882 | Advanced sleep phase syndrome, familial, 3 | . | | | 3 | | |
HP:0006979 | HP:0031849 | Sleep-wake inversion | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006979 | HP:0031873 | Early chronotype | 1 | TIMELESS CL E G H | 8914 | 11813 | OMIM:620015 | | | | | | | |