TaoMedAI/RareMedData huggingface dataset:
Gene: NEK1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Broad first metatarsal (HP:0010068)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Short palm (HP:0004279)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Broad hallux (HP:0010055)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Natal tooth (HP:0000695)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Short stature (HP:0004322)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Short stature (HP:0004322)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Mesomelia (HP:0003027)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Partial duplication of the phalanges of the hallux (HP:0010101)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Complete duplication of hallux phalanx (HP:0010100)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Disproportionate shortening of the tibia (HP:0005766)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Short tibia (HP:0005736)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Polysyndactyly of hallux (HP:0005873)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Polysyndactyly of hallux (HP:0005873)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Postaxial polysyndactyly of foot (HP:0005817)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Central retinal vessel vascular tortuosity (HP:0007768)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: High palate (HP:0000218)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: High palate (HP:0000218)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Talon cusp (HP:0011087)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Thoracic dysplasia (HP:0006644)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Telecanthus (HP:0000506)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 67 (OMIM:615565)
Gene: NEK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 67 (OMIM:615565)
Gene: NEK2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)