TaoMedAI/RareMedData huggingface dataset:
Gene: CCR6
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Carious teeth (HP:0000670)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Xerostomia (HP:0000217)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Abnormal bowel sounds (HP:0030142)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCR6
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCR6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: ABCC2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Abnormal urinary color (HP:0012086)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DUBIN-JOHNSON SYNDROME (OMIM:237500)
Gene: ABCC2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: DUBIN-JOHNSON SYNDROME (OMIM:237500)
Gene: ABCC2
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Fever (HP:0001945)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Jaundice (HP:0000952)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Jaundice (HP:0000952)
Associated disease: DUBIN-JOHNSON SYNDROME (OMIM:237500)
Gene: ABCC2
Phenotype: Fatigue (HP:0012378)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Sprinz-Nelson syndrome; Hyperbilirubinemia type 2 (ORPHA:234)
Gene: ABCC2
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: DUBIN-JOHNSON SYNDROME (OMIM:237500)
Gene: CNGB1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Gene: CNGB1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGB1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CNGA1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CNGA1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Gene: CNGA1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Hemeralopia (HP:0012047)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGA3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Nystagmus (HP:0000639)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Photophobia (HP:0000613)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Photophobia (HP:0000613)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)
Gene: CNGA3
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Central scotoma (HP:0000603)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CNGA3
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGA3
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated disease: ACHROMATOPSIA 2 (OMIM:216900)