Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	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