TaoMedAI/RareMedData huggingface dataset:
Gene: GATA3
Phenotype: Parathyroid hypoplasia (HP:0000860)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Aplasia of the vagina (HP:0003250)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome; Barakat syndrome; Hypoparathyroidism-sensorineural deafness-renal disease syndrome; HDR syndrome (ORPHA:2237)
Gene: GATA3
Phenotype: Ptosis (HP:0000508)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA3
Phenotype: Pseudopapilledema (HP:0000538)
Associated disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Gene: GATA4
Phenotype: Tapered finger (HP:0001182)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Poor speech (HP:0002465)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Seizure (HP:0001250)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Hypospadias (HP:0000047)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 4 (OMIM:614430)
Gene: GATA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Primum atrial septal defect (HP:0010445)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 4 (OMIM:614430)
Gene: GATA4
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Congenital onset (HP:0003577)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 4 (OMIM:614430)
Gene: GATA4
Phenotype: Congenital onset (HP:0003577)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Corpus cavernosum hypoplasia (HP:4000094)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Broad thumb (HP:0011304)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Short stature (HP:0004322)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Short nose (HP:0003196)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA4
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Epicanthus (HP:0000286)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Full cheeks (HP:0000293)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: GATA4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Microcephaly (HP:0000252)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: High palate (HP:0000218)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Growth delay (HP:0001510)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Obesity (HP:0001513)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Low-set ears (HP:0000369)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)