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:0010544	HP:0010544	Vertical nystagmus	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0010544	HP:0010544	Vertical nystagmus	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0010544	HP:0010544	Vertical nystagmus	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0010544	HP:0010544	Vertical nystagmus	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0010544	HP:0010544	Vertical nystagmus	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2		449
HP:0010544	HP:0010544	Vertical nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0010544	HP:0010544	Vertical nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent	449
HP:0010544	HP:0010544	Vertical nystagmus	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0010544	HP:0010544	Vertical nystagmus	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0010544	HP:0010544	Vertical nystagmus	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0010544	HP:0010544	Vertical nystagmus	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0010544	HP:0010544	Vertical nystagmus	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0010544	HP:0010544	Vertical nystagmus	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0010544	HP:0010544	Vertical nystagmus	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0010544	HP:0010544	Vertical nystagmus	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0010544	HP:0010544	Vertical nystagmus	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010544	HP:0010544	Vertical nystagmus	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0010544	HP:0010544	Vertical nystagmus	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0010544	HP:0010544	Vertical nystagmus	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0010544	HP:0010544	Vertical nystagmus	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0010544	HP:0010544	Vertical nystagmus	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0010544	HP:0010544	Vertical nystagmus	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent	57
HP:0010544	HP:0011477	Upbeat nystagmus	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0010544	HP:0010545	Downbeat nystagmus	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0010544	HP:0010545	Downbeat nystagmus	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0010544	HP:0010545	Downbeat nystagmus	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0010544	HP:0011477	Upbeat nystagmus	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.	47
HP:0010544	HP:0010545	Downbeat nystagmus	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare	133
HP:0010544	HP:0010545	Downbeat nystagmus	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome