TaoMedAI/RareMedData huggingface dataset:
Gene: PREPL
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Short stature (HP:0004322)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Cystinuria (HP:0003131)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Cystinuria (HP:0003131)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Cystinuria (HP:0003131)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Epicanthus (HP:0000286)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Retrognathia (HP:0000278)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Growth delay (HP:0001510)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Growth delay (HP:0001510)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Fatigue (HP:0012378)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Long eyelashes (HP:0000527)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Ptosis (HP:0000508)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: CARTPT
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: CARTPT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: CARTPT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: CARTPT
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: CARTPT
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: CARTPT
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: CELSR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 9 (OMIM:619319)
Gene: CELSR1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHATIC MALFORMATION 9 (OMIM:619319)
Gene: CELSR1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Tortuous lymphatic vessels (HP:0033986)
Associated disease: LYMPHATIC MALFORMATION 9 (OMIM:619319)
Gene: CELSR1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CELSR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KLK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: KLK4
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: KLK4
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: KLK4
Phenotype: Infantile onset (HP:0003593)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: KLK4
Phenotype: Carious teeth (HP:0000670)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: KLK4
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: KLK4
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Gene: SNCAIP
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: SNCAIP
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GNA14
Phenotype: Abnormality of the common coagulation pathway (HP:0010990)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Elevated circulating D-dimer concentration (HP:0033106)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Paresthesia (HP:0003401)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Lymphedema (HP:0001004)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Chronic disseminated intravascular coagulation (HP:0005520)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Anemia (HP:0001903)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Purpura (HP:0000979)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Purpura (HP:0000979)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Edema (HP:0000969)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Petechiae (HP:0000967)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Petechiae (HP:0000967)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Hemangioma of the lip (HP:0031490)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Esotropia (HP:0000565)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Pain (HP:0012531)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: GNA14
Phenotype: Pain (HP:0012531)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Gene: GNA14
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Gene: NUP155
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Atrial flutter (HP:0004749)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Third trimester onset (HP:0034197)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Gene: NUP155
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NUP155
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SEC24C
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Meningocele (HP:0002435)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Spina bifida (HP:0002414)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Tetany (HP:0001281)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Seizure (HP:0001250)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Hypotonia (HP:0001252)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: SEC24C
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)