TaoMedAI/RareMedData huggingface dataset:
Gene: BCAP31
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Seizure (HP:0001250)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Seizure (HP:0001250)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Cholestasis (HP:0001396)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Dystonia (HP:0001332)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Dystonia (HP:0001332)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Short nose (HP:0003196)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Micrognathia (HP:0000347)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Cholangitis (HP:0030151)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Strabismus (HP:0000486)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: BCAP31
Phenotype: Strabismus (HP:0000486)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Cataract (HP:0000518)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: RBM12
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: RBM12
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: RBM12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: RBM12
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: RBM12
Phenotype: Middle age onset (HP:0003596)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: RBM12
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: RBM12
Phenotype: Young adult onset (HP:0011462)
Associated disease: SCHIZOPHRENIA 19 (OMIM:617629)
Gene: AKAP9
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 11 (OMIM:611820)
Gene: AKAP9
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: AKAP9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 11 (OMIM:611820)
Gene: AKAP9
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LONG QT SYNDROME 11 (OMIM:611820)
Gene: AKAP9
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: AKAP9
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 11 (OMIM:611820)
Gene: AKAP9
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: AKAP9
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: AKAP9
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: AKAP9
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: AKAP9
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: AKAP9
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: AKAP9
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: FAM13A
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: FAM13A
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ADGRG2
Phenotype: Azoospermia (HP:0000027)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED (OMIM:300985)
Gene: ADGRG2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: ADGRG2
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED (OMIM:300985)
Gene: ADGRG2
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: ADGRG2
Phenotype: Seminal vesicle agenesis (HP:0430121)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: ADGRG2
Phenotype: Young adult onset (HP:0011462)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED (OMIM:300985)
Gene: ADGRG2
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: ADGRG2
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: ADGRG2
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED (OMIM:300985)
Gene: ADGRG2
Phenotype: Male infertility (HP:0003251)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED (OMIM:300985)
Gene: ADGRG2
Phenotype: Male infertility (HP:0003251)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: ADGRG2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: TRIM28
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)