Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cardiovascular system physiology (HP:0011025)

Parent Node:
Abnormal heart valve physiology (HP:0031653)

..Starting node
..Abnormal aortic valve physiology (HP:0031652)

Term ID:

31652

Name:

Abnormal aortic valve physiology

Synonym:

Definition:

Comments:

Reference:

HP:0031652

Genes and Diseases:

Child Nodes:

........

Aortic valve stenosis (HP:0001650)

................... HP:0004381 Supravalvular aortic stenosis

........

Aortic regurgitation (HP:0001659)

Sister Nodes:

Abnormal atrioventricular valve physiology (HP:0031650)

Abnormal pulmonary valve physiology (HP:0031654)

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:0031652	HP:0031652	Abnormal aortic valve physiology	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome		63
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia		179
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	ORPHA:3193	Supravalvular aortic stenosis		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia		36
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome		1361
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia		493
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve		10
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma		57
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis		4
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1		4
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome		115
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome		123
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3		123
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form		136
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia		30
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve		90
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve		452
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4		13
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13		126
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve		33
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2		11
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome		11
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia		5
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome		5
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0031652	HP:0031652	Abnormal aortic valve physiology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	67
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	76
HP:0031652	HP:0001659	Aortic regurgitation	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0031652	HP:0001650	Aortic valve stenosis	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0031652	HP:0001650	Aortic valve stenosis	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	63
HP:0031652	HP:0001650	Aortic valve stenosis	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0031652	HP:0001659	Aortic regurgitation	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0031652	HP:0001650	Aortic valve stenosis	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0031652	HP:0001659	Aortic regurgitation	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0031652	HP:0001659	Aortic regurgitation	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0031652	HP:0001650	Aortic valve stenosis	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0031652	HP:0001650	Aortic valve stenosis	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	356
HP:0031652	HP:0001659	Aortic regurgitation	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0031652	HP:0001650	Aortic valve stenosis	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0031652	HP:0001659	Aortic regurgitation	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0031652	HP:0001650	Aortic valve stenosis	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0031652	HP:0001659	Aortic regurgitation	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0031652	HP:0001650	Aortic valve stenosis	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001650	Aortic valve stenosis	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0031652	HP:0001659	Aortic regurgitation	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0031652	HP:0001659	Aortic regurgitation	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0031652	HP:0001659	Aortic regurgitation	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0031652	HP:0001659	Aortic regurgitation	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0031652	HP:0001659	Aortic regurgitation	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0031652	HP:0001650	Aortic valve stenosis	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0031652	HP:0001650	Aortic valve stenosis	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0031652	HP:0001659	Aortic regurgitation	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0031652	HP:0001659	Aortic regurgitation	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031652	HP:0001659	Aortic regurgitation	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0031652	HP:0001659	Aortic regurgitation	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0031652	HP:0001659	Aortic regurgitation	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0031652	HP:0001650	Aortic valve stenosis	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0031652	HP:0001659	Aortic regurgitation	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0031652	HP:0001650	Aortic valve stenosis	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0031652	HP:0001659	Aortic regurgitation	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0031652	HP:0001659	Aortic regurgitation	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0031652	HP:0001650	Aortic valve stenosis	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0031652	HP:0001650	Aortic valve stenosis	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0031652	HP:0001659	Aortic regurgitation	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0031652	HP:0001650	Aortic valve stenosis	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0031652	HP:0001659	Aortic regurgitation	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0031652	HP:0001650	Aortic valve stenosis	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0031652	HP:0001659	Aortic regurgitation	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0031652	HP:0001650	Aortic valve stenosis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0031652	HP:0001659	Aortic regurgitation	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0031652	HP:0001650	Aortic valve stenosis	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0031652	HP:0001650	Aortic valve stenosis	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0031652	HP:0001650	Aortic valve stenosis	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0031652	HP:0001659	Aortic regurgitation	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0031652	HP:0001650	Aortic valve stenosis	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0031652	HP:0001659	Aortic regurgitation	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0031652	HP:0001659	Aortic regurgitation	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	ELN CL E G H	2006	3327	ORPHA:3193	Supravalvular aortic stenosis	HP:0040281 - Very frequent	172
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0031652	HP:0001650	Aortic valve stenosis	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0031652	HP:0001659	Aortic regurgitation	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0031652	HP:0001659	Aortic regurgitation	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0031652	HP:0001659	Aortic regurgitation	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0031652	HP:0001659	Aortic regurgitation	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0031652	HP:0001659	Aortic regurgitation	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0031652	HP:0001650	Aortic valve stenosis	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0031652	HP:0001659	Aortic regurgitation	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0031652	HP:0001650	Aortic valve stenosis	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	1361
HP:0031652	HP:0001650	Aortic valve stenosis	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0031652	HP:0001650	Aortic valve stenosis	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001650	Aortic valve stenosis	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0031652	HP:0001659	Aortic regurgitation	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.	493
HP:0031652	HP:0001659	Aortic regurgitation	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0031652	HP:0001659	Aortic regurgitation	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0031652	HP:0001659	Aortic regurgitation	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0031652	HP:0001650	Aortic valve stenosis	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0031652	HP:0001659	Aortic regurgitation	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0031652	HP:0001650	Aortic valve stenosis	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0031652	HP:0001650	Aortic valve stenosis	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0031652	HP:0001659	Aortic regurgitation	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0031652	HP:0001650	Aortic valve stenosis	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0031652	HP:0001650	Aortic valve stenosis	1	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0031652	HP:0001659	Aortic regurgitation	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0031652	HP:0001659	Aortic regurgitation	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0031652	HP:0001650	Aortic valve stenosis	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0031652	HP:0001659	Aortic regurgitation	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0031652	HP:0001659	Aortic regurgitation	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0031652	HP:0001659	Aortic regurgitation	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0031652	HP:0001650	Aortic valve stenosis	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0031652	HP:0001659	Aortic regurgitation	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0031652	HP:0001650	Aortic valve stenosis	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0031652	HP:0001659	Aortic regurgitation	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional	185
HP:0031652	HP:0001659	Aortic regurgitation	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0031652	HP:0001659	Aortic regurgitation	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0031652	HP:0001659	Aortic regurgitation	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional	4
HP:0031652	HP:0001659	Aortic regurgitation	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0031652	HP:0001659	Aortic regurgitation	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0031652	HP:0001659	Aortic regurgitation	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0031652	HP:0001650	Aortic valve stenosis	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0031652	HP:0001659	Aortic regurgitation	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040281 - Very frequent	115
HP:0031652	HP:0001659	Aortic regurgitation	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0031652	HP:0001650	Aortic valve stenosis	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0031652	HP:0001659	Aortic regurgitation	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0031652	HP:0001659	Aortic regurgitation	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0031652	HP:0001659	Aortic regurgitation	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031652	HP:0001659	Aortic regurgitation	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031652	HP:0001659	Aortic regurgitation	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0031652	HP:0001659	Aortic regurgitation	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031652	HP:0001650	Aortic valve stenosis	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	2157
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	73
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001650	Aortic valve stenosis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0031652	HP:0001650	Aortic valve stenosis	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0031652	HP:0001659	Aortic regurgitation	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0031652	HP:0001650	Aortic valve stenosis	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0031652	HP:0001659	Aortic regurgitation	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0031652	HP:0001659	Aortic regurgitation	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0031652	HP:0001650	Aortic valve stenosis	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	123
HP:0031652	HP:0001650	Aortic valve stenosis	1	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0031652	HP:0001659	Aortic regurgitation	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040284 - Very rare	136
HP:0031652	HP:0001659	Aortic regurgitation	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040284 - Very rare	136
HP:0031652	HP:0001659	Aortic regurgitation	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0031652	HP:0001659	Aortic regurgitation	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0031652	HP:0001659	Aortic regurgitation	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0031652	HP:0001659	Aortic regurgitation	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0031652	HP:0001659	Aortic regurgitation	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4	.	418
HP:0031652	HP:0001659	Aortic regurgitation	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0031652	HP:0001659	Aortic regurgitation	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0031652	HP:0001659	Aortic regurgitation	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0031652	HP:0001659	Aortic regurgitation	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0031652	HP:0001650	Aortic valve stenosis	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0031652	HP:0001650	Aortic valve stenosis	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0031652	HP:0001659	Aortic regurgitation	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0031652	HP:0001659	Aortic regurgitation	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0031652	HP:0001650	Aortic valve stenosis	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	.	452
HP:0031652	HP:0001659	Aortic regurgitation	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0031652	HP:0001650	Aortic valve stenosis	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0031652	HP:0001650	Aortic valve stenosis	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0031652	HP:0001650	Aortic valve stenosis	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0031652	HP:0001650	Aortic valve stenosis	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0031652	HP:0001650	Aortic valve stenosis	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.	13
HP:0031652	HP:0001659	Aortic regurgitation	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	178
HP:0031652	HP:0001659	Aortic regurgitation	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0031652	HP:0001659	Aortic regurgitation	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0031652	HP:0001659	Aortic regurgitation	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001650	Aortic valve stenosis	1	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2	HP:0040283 - Occasional
HP:0031652	HP:0001650	Aortic valve stenosis	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0031652	HP:0001650	Aortic valve stenosis	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0031652	HP:0001650	Aortic valve stenosis	1	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	HP:0040283 - Occasional	126
HP:0031652	HP:0001659	Aortic regurgitation	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0031652	HP:0001659	Aortic regurgitation	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0031652	HP:0001659	Aortic regurgitation	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0031652	HP:0001659	Aortic regurgitation	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0031652	HP:0001659	Aortic regurgitation	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0031652	HP:0001650	Aortic valve stenosis	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0031652	HP:0001659	Aortic regurgitation	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0031652	HP:0001659	Aortic regurgitation	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0031652	HP:0001659	Aortic regurgitation	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0031652	HP:0001659	Aortic regurgitation	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0031652	HP:0001659	Aortic regurgitation	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0031652	HP:0001650	Aortic valve stenosis	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0031652	HP:0001650	Aortic valve stenosis	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0031652	HP:0001659	Aortic regurgitation	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0031652	HP:0001650	Aortic valve stenosis	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0031652	HP:0001659	Aortic regurgitation	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0031652	HP:0001659	Aortic regurgitation	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0031652	HP:0001659	Aortic regurgitation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031652	HP:0001659	Aortic regurgitation	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001650	Aortic valve stenosis	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0031652	HP:0001659	Aortic regurgitation	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0031652	HP:0001650	Aortic valve stenosis	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040283 - Occasional	11
HP:0031652	HP:0001650	Aortic valve stenosis	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0031652	HP:0001659	Aortic regurgitation	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0031652	HP:0001659	Aortic regurgitation	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0031652	HP:0001659	Aortic regurgitation	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0031652	HP:0001659	Aortic regurgitation	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0031652	HP:0001659	Aortic regurgitation	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001659	Aortic regurgitation	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0031652	HP:0001659	Aortic regurgitation	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0031652	HP:0001659	Aortic regurgitation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0031652	HP:0001650	Aortic valve stenosis	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0031652	HP:0001650	Aortic valve stenosis	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0031652	HP:0001659	Aortic regurgitation	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031652	HP:0004381	Supravalvular aortic stenosis	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0031652	HP:0001650	Aortic valve stenosis	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0031652	HP:0001650	Aortic valve stenosis	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0031652	HP:0001650	Aortic valve stenosis	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0031652	HP:0001650	Aortic valve stenosis	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0031652	HP:0001659	Aortic regurgitation	1	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040282 - Frequent	5
HP:0031652	HP:0001650	Aortic valve stenosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0031652	HP:0001650	Aortic valve stenosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0031652	HP:0001659	Aortic regurgitation	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0031652	HP:0001650	Aortic valve stenosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (166) :ABCG5 ABCG8 ACTA2 ACTB ADAMTS10 ADAMTS19 ADAMTSL2 ALDH18A1 AMER1 ANKS6 APOB ARF1 ARFGEF2 ARHGAP31 ARSK ATP6V1E1 B4GALT7 BAZ1B BCL7B BCOR BCR BUB1 BUB1B BUB3 BUD23 C12ORF57 C4A CBL CCDC22 CCNQ CCR1 CEP57 CHST14 CHST3 CLIC2 CLIP2 COA6 COL1A2 CREBBP CRKL CYP24A1 D2HGDH DNAJC30 DOHH DPH1 DYRK1A EBP EFEMP2 EHMT1 EIF4H ELN EP300 ERAP1 ERMARD FAS FBLN5 FBN1 FGFR1 FKBP6 FLI1 FLNA FOXE3 FOXF1 GATA4 GATA5 GBA1 GJA1 GJA5 GJA8 GLB1 GNPTAB GNPTG GTF2I GTF2IRD1 GTF2IRD2 HAAO HCN4 HEATR3 HEY2 HLA-B IDUA IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 KRAS LDLR LDLRAP1 LIMK1 LMNA LMOD2 LOX LTBP1 LTBP2 MAN2B1 MAP1B MAPK1 MAT2A MEFV METTL27 MFAP5 MLXIPL MYH11 MYLK NCF1 NEDD4L NEK8 NKX2-5 NKX2-6 NOTCH1 NOTCH2 NPHP3 NR2F2 PCGF2 PCSK9 PDSS1 PLXND1 PRKG1 PUF60 RFC2 RIGI RMRP ROBO4 RRAS2 SCN1B SHOC2 SKIC2 SKIC3 SLC2A10 SLC35A1 SMAD2 SMAD3 SMAD4 SMAD6 SNIP1 SON SPRED2 SPTBN1 STAT4 STX1A TAB2 TAF2 TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLR4 TMEM270 TMTC3 TRIP13 TTC26 TTR TWIST1 UBAC2 VPS37D VWF WASHC5 WT1 YY1AP1 ZEB2 ZMPSTE24

Diseases (127) :ORPHA:391665 ORPHA:91387 OMIM:243310 ORPHA:3449 OMIM:277600 OMIM:620067 OMIM:231050 ORPHA:90348 OMIM:616603 ORPHA:2780 OMIM:615382 ORPHA:98892 OMIM:100300 OMIM:619698 OMIM:617402 ORPHA:75496 ORPHA:904 OMIM:300166 ORPHA:261330 ORPHA:1052 OMIM:218340 ORPHA:117 OMIM:613563 ORPHA:7 ORPHA:140952 OMIM:614114 OMIM:601776 OMIM:143095 ORPHA:324410 OMIM:616501 ORPHA:230851 OMIM:225320 ORPHA:353281 ORPHA:353277 OMIM:143880 OMIM:600721 OMIM:620066 ORPHA:459061 ORPHA:268261 ORPHA:464311 ORPHA:401973 OMIM:300960 ORPHA:90349 ORPHA:96147 OMIM:123700 OMIM:185500 ORPHA:3193 OMIM:194050 ORPHA:353284 OMIM:219100 OMIM:614185 OMIM:154700 OMIM:608328 ORPHA:2396 ORPHA:2308 OMIM:314400 ORPHA:555877 ORPHA:210122 OMIM:607941 OMIM:617912 ORPHA:402075 OMIM:230800 OMIM:241550 OMIM:612474 OMIM:253010 OMIM:252500 OMIM:252600 ORPHA:576 OMIM:252605 OMIM:617660 OMIM:163800 OMIM:620072 ORPHA:29207 OMIM:106300 OMIM:607014 OMIM:607015 ORPHA:93474 OMIM:607016 OMIM:182250 ORPHA:79474 ORPHA:740 ORPHA:363618 OMIM:619897 OMIM:614819 ORPHA:309288 ORPHA:309282 OMIM:132900 ORPHA:229 OMIM:615415 ORPHA:3384 OMIM:109730 ORPHA:955 OMIM:267010 OMIM:208540 OMIM:615779 OMIM:618371 OMIM:614651 ORPHA:508498 OMIM:616298 OMIM:607095 OMIM:618496 OMIM:618624 OMIM:615377 OMIM:607721 ORPHA:84064 OMIM:222470 OMIM:208050 OMIM:603585 ORPHA:284984 OMIM:139210 OMIM:614501 OMIM:617140 OMIM:619745 OMIM:619475 OMIM:614980 ORPHA:228410 OMIM:615599 OMIM:619825 OMIM:619534 ORPHA:85451 OMIM:123100 OMIM:193400 OMIM:220210 ORPHA:3097 ORPHA:79094 ORPHA:261552 ORPHA:261537

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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