Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Clinical modifier (HP:0012823)

Parent Node:
Phenotypic variability (HP:0003812)

..Starting node
..Variable expressivity (HP:0003828)

Term ID:

3828

Name:

Variable expressivity

Synonym:

Highly variable severity; Variable severity

Definition:

A variable severity of phenotypic features.

Comments:

Reference:

HP:0003828

Genes and Diseases:

Child Nodes:

Sister Nodes:

Typified by incomplete penetrance (HP:0003829)

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:0003828	HP:0003828	Variable expressivity	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0003828	HP:0003828	Variable expressivity	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0003828	HP:0003828	Variable expressivity	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.	3
HP:0003828	HP:0003828	Variable expressivity	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0003828	HP:0003828	Variable expressivity	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0003828	HP:0003828	Variable expressivity	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0003828	HP:0003828	Variable expressivity	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003828	HP:0003828	Variable expressivity	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0003828	HP:0003828	Variable expressivity	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0003828	HP:0003828	Variable expressivity	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0003828	HP:0003828	Variable expressivity	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0003828	HP:0003828	Variable expressivity	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0003828	HP:0003828	Variable expressivity	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0003828	HP:0003828	Variable expressivity	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.	200
HP:0003828	HP:0003828	Variable expressivity	0	CFD CL E G H	1675	2771	OMIM:613912	Complement factor D deficiency	.	4
HP:0003828	HP:0003828	Variable expressivity	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003828	HP:0003828	Variable expressivity	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0003828	HP:0003828	Variable expressivity	0	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	.
HP:0003828	HP:0003828	Variable expressivity	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0003828	HP:0003828	Variable expressivity	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0003828	HP:0003828	Variable expressivity	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0003828	HP:0003828	Variable expressivity	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0003828	HP:0003828	Variable expressivity	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0003828	HP:0003828	Variable expressivity	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0003828	HP:0003828	Variable expressivity	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0003828	HP:0003828	Variable expressivity	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0003828	HP:0003828	Variable expressivity	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities	.	47
HP:0003828	HP:0003828	Variable expressivity	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0003828	HP:0003828	Variable expressivity	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	.	3
HP:0003828	HP:0003828	Variable expressivity	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0003828	HP:0003828	Variable expressivity	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003828	HP:0003828	Variable expressivity	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0003828	HP:0003828	Variable expressivity	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.	3
HP:0003828	HP:0003828	Variable expressivity	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0003828	HP:0003828	Variable expressivity	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0003828	HP:0003828	Variable expressivity	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0003828	HP:0003828	Variable expressivity	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0003828	HP:0003828	Variable expressivity	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0003828	HP:0003828	Variable expressivity	0	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.	70
HP:0003828	HP:0003828	Variable expressivity	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.	1
HP:0003828	HP:0003828	Variable expressivity	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0003828	HP:0003828	Variable expressivity	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0003828	HP:0003828	Variable expressivity	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.	111
HP:0003828	HP:0003828	Variable expressivity	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.	111
HP:0003828	HP:0003828	Variable expressivity	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003828	HP:0003828	Variable expressivity	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003828	HP:0003828	Variable expressivity	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003828	HP:0003828	Variable expressivity	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.	44
HP:0003828	HP:0003828	Variable expressivity	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0003828	HP:0003828	Variable expressivity	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0003828	HP:0003828	Variable expressivity	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0003828	HP:0003828	Variable expressivity	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003828	HP:0003828	Variable expressivity	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0003828	HP:0003828	Variable expressivity	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0003828	HP:0003828	Variable expressivity	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0003828	HP:0003828	Variable expressivity	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0003828	HP:0003828	Variable expressivity	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	.	270
HP:0003828	HP:0003828	Variable expressivity	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0003828	HP:0003828	Variable expressivity	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0003828	HP:0003828	Variable expressivity	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0003828	HP:0003828	Variable expressivity	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0003828	HP:0003828	Variable expressivity	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0003828	HP:0003828	Variable expressivity	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.	30
HP:0003828	HP:0003828	Variable expressivity	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0003828	HP:0003828	Variable expressivity	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W	.
HP:0003828	HP:0003828	Variable expressivity	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0003828	HP:0003828	Variable expressivity	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0003828	HP:0003828	Variable expressivity	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0003828	HP:0003828	Variable expressivity	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0003828	HP:0003828	Variable expressivity	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.	114
HP:0003828	HP:0003828	Variable expressivity	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0003828	HP:0003828	Variable expressivity	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0003828	HP:0003828	Variable expressivity	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.	276
HP:0003828	HP:0003828	Variable expressivity	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	.	13
HP:0003828	HP:0003828	Variable expressivity	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.	3
HP:0003828	HP:0003828	Variable expressivity	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.	65
HP:0003828	HP:0003828	Variable expressivity	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.	10
HP:0003828	HP:0003828	Variable expressivity	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0003828	HP:0003828	Variable expressivity	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0003828	HP:0003828	Variable expressivity	0	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.	6
HP:0003828	HP:0003828	Variable expressivity	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0003828	HP:0003828	Variable expressivity	0	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70	.	1
HP:0003828	HP:0003828	Variable expressivity	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.	203
HP:0003828	HP:0003828	Variable expressivity	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003828	HP:0003828	Variable expressivity	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.	6
HP:0003828	HP:0003828	Variable expressivity	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0003828	HP:0003828	Variable expressivity	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0003828	HP:0003828	Variable expressivity	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0003828	HP:0003828	Variable expressivity	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0003828	HP:0003828	Variable expressivity	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0003828	HP:0003828	Variable expressivity	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0003828	HP:0003828	Variable expressivity	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0003828	HP:0003828	Variable expressivity	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	.	24
HP:0003828	HP:0003828	Variable expressivity	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0003828	HP:0003828	Variable expressivity	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0003828	HP:0003828	Variable expressivity	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0003828	HP:0003828	Variable expressivity	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0003828	HP:0003828	Variable expressivity	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0003828	HP:0003828	Variable expressivity	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0003828	HP:0003828	Variable expressivity	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0003828	HP:0003828	Variable expressivity	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0003828	HP:0003828	Variable expressivity	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	.	1
HP:0003828	HP:0003828	Variable expressivity	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0003828	HP:0003828	Variable expressivity	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0003828	HP:0003828	Variable expressivity	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0003828	HP:0003828	Variable expressivity	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003828	HP:0003828	Variable expressivity	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0003828	HP:0003828	Variable expressivity	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003828	HP:0003828	Variable expressivity	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003828	HP:0003828	Variable expressivity	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0003828	HP:0003828	Variable expressivity	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.	1
HP:0003828	HP:0003828	Variable expressivity	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0003828	HP:0003828	Variable expressivity	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0003828	HP:0003828	Variable expressivity	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0003828	HP:0003828	Variable expressivity	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0003828	HP:0003828	Variable expressivity	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0003828	HP:0003828	Variable expressivity	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0003828	HP:0003828	Variable expressivity	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0003828	HP:0003828	Variable expressivity	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	.	34
HP:0003828	HP:0003828	Variable expressivity	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0003828	HP:0003828	Variable expressivity	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0003828	HP:0003828	Variable expressivity	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0003828	HP:0003828	Variable expressivity	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0003828	HP:0003828	Variable expressivity	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0003828	HP:0003828	Variable expressivity	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0003828	HP:0003828	Variable expressivity	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0003828	HP:0003828	Variable expressivity	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.	263
HP:0003828	HP:0003828	Variable expressivity	0	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3	.	67
HP:0003828	HP:0003828	Variable expressivity	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0003828	HP:0003828	Variable expressivity	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.	47
HP:0003828	HP:0003828	Variable expressivity	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0003828	HP:0003828	Variable expressivity	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.	17
HP:0003828	HP:0003828	Variable expressivity	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0003828	HP:0003828	Variable expressivity	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5	.	67
HP:0003828	HP:0003828	Variable expressivity	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor	.	67
HP:0003828	HP:0003828	Variable expressivity	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28	.	5
HP:0003828	HP:0003828	Variable expressivity	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0003828	HP:0003828	Variable expressivity	0	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12	.	255
HP:0003828	HP:0003828	Variable expressivity	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0003828	HP:0003828	Variable expressivity	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0003828	HP:0003828	Variable expressivity	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.	274
HP:0003828	HP:0003828	Variable expressivity	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0003828	HP:0003828	Variable expressivity	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0003828	HP:0003828	Variable expressivity	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0003828	HP:0003828	Variable expressivity	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0003828	HP:0003828	Variable expressivity	0	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	.	9
HP:0003828	HP:0003828	Variable expressivity	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K	.	73
HP:0003828	HP:0003828	Variable expressivity	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	.	13
HP:0003828	HP:0003828	Variable expressivity	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5
HP:0003828	HP:0003828	Variable expressivity	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0003828	HP:0003828	Variable expressivity	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.	23
HP:0003828	HP:0003828	Variable expressivity	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0003828	HP:0003828	Variable expressivity	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0003828	HP:0003828	Variable expressivity	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0003828	HP:0003828	Variable expressivity	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003828	HP:0003828	Variable expressivity	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	.	23
HP:0003828	HP:0003828	Variable expressivity	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0003828	HP:0003828	Variable expressivity	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0003828	HP:0003828	Variable expressivity	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0003828	HP:0003828	Variable expressivity	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0003828	HP:0003828	Variable expressivity	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63
HP:0003828	HP:0003828	Variable expressivity	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.	4
HP:0003828	HP:0003828	Variable expressivity	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0003828	HP:0003828	Variable expressivity	0	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.	533
HP:0003828	HP:0003828	Variable expressivity	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0003828	HP:0003828	Variable expressivity	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149

Genes (173) :ACTA1 ACTN4 ADD3 AFG3L2 AGK ANO5 ATL1 ATP6V1A BRPF1 CA5A CANT1 CD3E CDON CFD CHRNE CIT CLPX COL6A1 COL6A2 COL6A3 COQ8A COX1 COX2 COX3 CSPP1 CYTB DAG1 DARS2 DEGS1 DHDDS DHFR DLX5 DPAGT1 DPM1 EIF2S3 EPHB4 EXOSC2 EXOSC3 EYA1 F10 F2 F7 FBXO38 FGF12 FGFR2 FIG4 FKRP FKTN GABRB2 GATA1 GCH1 GFPT1 GJB6 GLE1 GLI2 GLI3 GM2A GNAS GP6 GRIA4 GTPBP3 GUCY1A1 HARS1 HDAC8 IARS1 IBA57 KCNA1 KCNMA1 KIF11 KIF14 KIF1A KLHL41 KRT81 KRT83 KRT86 LAMA1 LMNA MAPKBP1 MBTPS2 MCM2 MFN2 MPC1 MPDZ MRE11 MRPS7 MYH7 NAA10 ND1 ND5 ND6 NDUFA1 NDUFAF1 NEFH NIPA1 NRIP1 NUP107 ORAI1 PAX3 PDHX PEX2 PFKM PIGH PIGN PITX2 PLAA PMP22 PNPLA2 POLG2 POMT1 POMT2 PRDM8 PRPS1 PSAP PTPRO QDPR RARS1 RHOBTB2 RMND1 RNASEH2B ROGDI RTEL1 RYR1 SAMD9L SAMHD1 SCN1A SCN2A SCN4A SCNN1A SELENON SERAC1 SETX SFXN4 SH3KBP1 SHH SLC25A26 SLC25A46 SLC2A1 SLC52A2 SLC5A2 SLX4 SPAST SPG21 SPR STIM1 STX1B SURF1 TBCK TENM4 TH TMEM126A TNFRSF11B TPM2 TPM3 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TUBB2A TUBB2B TUBB4A TUBB6 TWIST1 VCP VEGFC VPS13D VWF WDR26 WWOX

Diseases (155) :OMIM:255310 OMIM:603278 OMIM:617008 OMIM:614487 OMIM:212350 OMIM:613319 OMIM:611307 OMIM:182600 OMIM:618012 OMIM:617333 OMIM:615751 OMIM:251450 OMIM:615615 OMIM:614226 OMIM:613912 OMIM:608931 OMIM:617090 OMIM:618015 OMIM:254090 OMIM:612016 OMIM:540000 OMIM:615636 OMIM:616538 OMIM:611105 OMIM:618404 OMIM:617836 OMIM:613839 OMIM:183600 OMIM:608093 OMIM:608799 OMIM:300148 OMIM:617300 OMIM:617763 OMIM:614678 OMIM:602588 OMIM:227600 OMIM:613679 OMIM:227500 OMIM:615575 OMIM:617166 OMIM:101400 OMIM:611228 OMIM:612691 OMIM:606612 OMIM:607155 OMIM:611588 OMIM:617829 OMIM:300835 OMIM:300367 OMIM:233910 OMIM:129500 OMIM:611890 OMIM:615849 OMIM:610829 OMIM:175700 OMIM:146510 OMIM:272750 OMIM:166350 OMIM:614201 OMIM:617864 OMIM:616198 OMIM:615750 OMIM:616625 OMIM:300882 OMIM:617093 OMIM:615330 OMIM:160120 OMIM:617643 OMIM:152950 OMIM:617914 OMIM:614255 OMIM:615731 OMIM:158000 OMIM:615960 OMIM:613205 OMIM:617271 OMIM:308205 OMIM:616968 OMIM:617087 OMIM:609260 OMIM:614741 OMIM:615219 OMIM:604391 OMIM:617872 OMIM:300855 OMIM:301020 OMIM:618234 OMIM:616924 OMIM:600363 OMIM:618270 OMIM:616730 OMIM:615883 OMIM:148820 OMIM:245349 OMIM:614867 OMIM:232800 OMIM:618010 OMIM:614080 OMIM:180500 OMIM:617527 OMIM:118220 OMIM:610717 OMIM:610131 OMIM:609308 OMIM:613158 OMIM:616640 OMIM:311070 OMIM:249900 OMIM:614196 OMIM:261630 OMIM:616140 OMIM:618004 OMIM:614922 OMIM:610181 OMIM:226750 OMIM:615190 OMIM:159550 OMIM:612952 OMIM:604403 OMIM:613721 OMIM:614198 OMIM:618126 OMIM:614739 OMIM:606002 OMIM:615578 OMIM:300310 OMIM:611638 OMIM:147250 OMIM:616794 OMIM:616505 OMIM:614847 OMIM:614707 OMIM:233100 OMIM:613951 OMIM:182601 OMIM:248900 OMIM:612716 OMIM:612783 OMIM:616172 OMIM:616684 OMIM:616900 OMIM:616736 OMIM:605407 OMIM:612989 OMIM:239000 OMIM:615763 OMIM:610031 OMIM:612438 OMIM:617732 OMIM:616687 OMIM:615907 OMIM:607317 OMIM:613554 OMIM:617616 OMIM:616211

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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