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:
Abnormal cardiac ventricular function (HP:0030872)

Parent Node:
Abnormal left ventricular function (HP:0005162)

..Starting node
..Left ventricular systolic dysfunction (HP:0025169)

Term ID:

25169

Name:

Left ventricular systolic dysfunction

Synonym:

Definition:

Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.

Comments:

Reference:

HP:0025169

Genes and Diseases:

Child Nodes:

........

Reduced ejection fraction (HP:0012664)

................... HP:0012663 Mildly reduced ejection fraction
................... HP:0012665 Moderately reduced ejection fraction
................... HP:0012666 Severely reduced ejection fraction

Sister Nodes:

Left ventricular diastolic dysfunction (HP:0025168)

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:0025169	HP:0025169	Left ventricular systolic dysfunction	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis		8
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B		35
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	645
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	HP:0040283 - Occasional	221
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd		363
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional	83
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0025169	HP:0025169	Left ventricular systolic dysfunction	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	83
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0025169	HP:0034385	Abnormal left ventricular endsystolic diameter	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B		35
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0025169	HP:0012664	Reduced left ventricular ejection fraction	1	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0025169	HP:0012663	Mildly reduced left ventricular ejection fraction	2	CL E G H
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0025169	HP:0012665	Moderately reduced left ventricular ejection fraction	2	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0025169	HP:0034386	Reduced left ventricular endsystolic diameter	2	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0025169	HP:0012666	Severely reduced left ventricular ejection fraction	2	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180

Genes (51) :AARS2 ABCC6 ABCC9 ACADVL B2M BAG5 COA6 CRYAB CSRP3 DES DSG2 DYSF ENPP1 FHOD3 FKTN GATAD1 GTPBP3 LAMA2 LAMA4 LMNA LMOD2 MYBPC3 MYH6 MYH7 NEXN NPPA POLG POLG2 POMT2 PPCS PRDM16 PSEN1 PSEN2 RAF1 RBM20 RPL3L RRM2B SCN5A SDHA SDHD SGCD SGCG SLC25A4 SLC6A6 TNNI3 TNNT2 TTN TTR TWNK VCL ZMPSTE24

Diseases (50) :OMIM:614096 OMIM:614473 ORPHA:51608 OMIM:619719 OMIM:201475 ORPHA:314652 OMIM:619747 OMIM:616501 OMIM:615184 OMIM:607482 OMIM:612124 OMIM:604765 OMIM:612877 ORPHA:268 OMIM:619402 OMIM:611615 OMIM:614672 ORPHA:444013 ORPHA:258 OMIM:615235 OMIM:181350 ORPHA:740 OMIM:619897 OMIM:115197 OMIM:613252 OMIM:613251 OMIM:613426 OMIM:613122 ORPHA:1344 ORPHA:254892 OMIM:613156 ORPHA:206559 OMIM:618189 OMIM:615373 OMIM:613694 OMIM:613697 OMIM:615916 OMIM:613172 OMIM:619371 OMIM:601154 OMIM:613642 OMIM:619167 OMIM:606685 ORPHA:353 OMIM:145350 OMIM:613286 OMIM:601494 OMIM:604145 ORPHA:85451 OMIM:611407

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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