TaoMedAI/RareMedData huggingface dataset:
Gene: ARL6
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hypertension (HP:0000822)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: High palate (HP:0000218)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Allergy (HP:0012393)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Astigmatism (HP:0000483)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Strabismus (HP:0000486)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Short foot (HP:0001773)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Broad foot (HP:0001769)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Cataract (HP:0000518)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 55 (OMIM:613575)
Gene: ARL6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Ptosis (HP:0000508)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Visual impairment (HP:0000505)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Glaucoma (HP:0000501)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Myopia (HP:0000545)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATRIP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATRIP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP78
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Ataxia (HP:0001251)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Hemeralopia (HP:0012047)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Anxiety (HP:0000739)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Depression (HP:0000716)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Astigmatism (HP:0000483)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Cataract (HP:0000518)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Gene: CEP78
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Scotoma (HP:0000575)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Visual loss (HP:0000572)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CEP78
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP78
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNRF3
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Panic attack (HP:0025269)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Abnormality of reproductive system physiology (HP:0000080)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Striae distensae (HP:0001065)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Palpitations (HP:0001962)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Increased body weight (HP:0004324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Irritability (HP:0000737)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Anxiety (HP:0000739)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Hypertension (HP:0000822)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Weight loss (HP:0001824)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: ZNRF3
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: SLC7A6OS
Phenotype: Mental deterioration (HP:0001268)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Ataxia (HP:0001251)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Dysmetria (HP:0001310)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Anxiety (HP:0000739)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Depression (HP:0000716)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: SLC7A6OS
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Gene: FAM161A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)
Gene: FAM161A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)