Phenotype: Abnormal heart sound (HP:0031657)
Associated genes and diseases:
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: SLC25A4
disease_id: OMIM:615418
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
gene_symbol: FBN1
disease_id: ORPHA:284979
disease_name: Neonatal Marfan syndrome
Neonatal MFS
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: RBBP8
disease_id: OMIM:606744
disease_name: SECKEL SYNDROME 2
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: CIC
disease_id: OMIM:617600
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
gene_symbol: PRKAR1A
disease_id: ORPHA:615
disease_name: Familial atrial myxoma
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
gene_symbol: NOTCH1
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: NKX2-5
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: GATA5
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: SMAD6
disease_id: ORPHA:402075
disease_name: Familial bicuspid aortic valve
Familial BAV
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: TLL1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ELN
disease_id: ORPHA:3193
disease_name: Supravalvular aortic stenosis
SVAS
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: TWIST1
disease_id: OMIM:123100
disease_name: CRANIOSYNOSTOSIS 1
gene_symbol: TMEM260
disease_id: OMIM:617478
disease_name: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
gene_symbol: BMPR2
disease_id: OMIM:265450
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: SMAD9
disease_id: OMIM:615342
disease_name: PULMONARY HYPERTENSION, PRIMARY, 2