TaoMedAI/RareMedData huggingface dataset:
Gene: NR1H4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Pruritus (HP:0000989)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Skin rash (HP:0000988)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Jaundice (HP:0000952)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Death in infancy (HP:0001522)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Ascites (HP:0001541)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Ascites (HP:0001541)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Premature birth (HP:0001622)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: THOC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Gene: THOC1
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Gene: THOC1
Phenotype: Abnormal inner ear morphology (HP:0011390)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Gene: THOC1
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Gene: THOC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Gene: THOC1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Gene: HNRNPDL
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Decreased movement range in interphalangeal joints (HP:0006203)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Flexion limitation of toes (HP:0008116)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Adult onset (HP:0003581)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Myopathy (HP:0003198)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: HNRNPDL
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Gene: SLC12A6
Phenotype: Tapered finger (HP:0001182)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Long fingers (HP:0100807)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Motor delay (HP:0001270)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Areflexia (HP:0001284)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Seizure (HP:0001250)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Seizure (HP:0001250)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Seizure (HP:0001250)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Hypotonia (HP:0001252)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Spasticity (HP:0001257)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Inability to walk (HP:0002540)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Facial diplegia (HP:0001349)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Absent speech (HP:0001344)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Tremor (HP:0001337)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Scoliosis (HP:0002650)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Axonal loss (HP:0003447)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Limb tremor (HP:0200085)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Progressive (HP:0003676)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Abolished vibration sense (HP:0006944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Psychosis (HP:0000709)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Short nose (HP:0003196)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Turricephaly (HP:0000262)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Long face (HP:0000276)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: High palate (HP:0000218)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Macrotia (HP:0000400)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Strabismus (HP:0000486)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: SLC12A6
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Gene: SLC12A6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Ptosis (HP:0000508)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Esotropia (HP:0000565)
Associated disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Gene: SLC12A6
Phenotype: Myopia (HP:0000545)
Associated disease: Andermann syndrome; Corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease (ORPHA:1496)
Gene: KCNE2
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Late onset (HP:0003584)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Adult onset (HP:0003581)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)