TaoMedAI/RareMedData huggingface dataset:
Gene: KCNJ13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Retinal dots (HP:0032027)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Snowflake vitreoretinal degeneration (HP:0011533)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Strabismus (HP:0000486)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Cataract (HP:0000518)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Cataract (HP:0000518)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Retinal detachment (HP:0000541)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ16
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Acidosis (HP:0001941)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNJ16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Gene: KCNK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Atrial flutter (HP:0004749)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Middle age onset (HP:0003596)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Progressive (HP:0003676)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Pulmonary arterial hypertension with lack of acute response to NO challenge (HP:0033424)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Thromboembolism (HP:0001907)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNK3
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Gene: KCNMA1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Seizure (HP:0001250)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Ataxia (HP:0001251)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Dystonia (HP:0001332)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Gene: KCNMA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Gene: KCNMA1
Phenotype: Macroglossia (HP:0000158)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Wide mouth (HP:0000154)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Chorea (HP:0002072)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)
Gene: KCNMA1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Gene: KCNMA1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Gene: KCNMA1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: LIANG-WANG SYNDROME (OMIM:618729)