TaoMedAI/RareMedData huggingface dataset:
Gene: CKAP2L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Growth delay (HP:0001510)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Broad forehead (HP:0000337)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Broad forehead (HP:0000337)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Short philtrum (HP:0000322)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Short philtrum (HP:0000322)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Small nail (HP:0001792)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Wide nose (HP:0000445)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Proptosis (HP:0000520)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Visual impairment (HP:0000505)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARL6IP6
Phenotype: Blue nevus (HP:0100814)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Seizure (HP:0001250)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Skin erosion (HP:0200041)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Purpura (HP:0000979)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Short lower limbs (HP:0006385)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Ascites (HP:0001541)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Micrognathia (HP:0000347)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Leukocoria (HP:0000555)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: ARL6IP6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: CATSPERT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 68 (OMIM:619805)
Gene: CATSPERT
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 68 (OMIM:619805)
Gene: CATSPERT
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 68 (OMIM:619805)
Gene: CATSPERT
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 68 (OMIM:619805)
Gene: ASPRV1
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT (OMIM:146750)
Gene: ASPRV1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT (OMIM:146750)
Gene: ASPRV1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Pruritus (HP:0000989)
Associated disease: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT (OMIM:146750)
Gene: ASPRV1
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT (OMIM:146750)
Gene: ASPRV1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ASPRV1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SGO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Atrial flutter (HP:0004749)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Bradycardia (HP:0001662)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: SGO1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Gene: NEK10
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Abnormal sweat electrolytes (HP:0040128)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Heterotaxy (HP:0030853)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Otitis media (HP:0000388)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Gene: NEK10
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NEK10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC50
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Gene: CCDC50
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Gene: CCDC50
Phenotype: Abnormal inner ear morphology (HP:0011390)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Gene: CCDC50
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Gene: CCDC50
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Gene: CCDC50
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Gene: ODAPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (OMIM:614832)
Gene: ODAPH
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (OMIM:614832)
Gene: ODAPH
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (OMIM:614832)
Gene: ODAPH
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (OMIM:614832)
Gene: PPM1K
Phenotype: Hyperisoleucinemia (HP:0010913)
Associated disease: MAPLE SYRUP URINE DISEASE, MILD VARIANT (OMIM:615135)
Gene: PPM1K
Phenotype: Hyperleucinemia (HP:0010911)
Associated disease: MAPLE SYRUP URINE DISEASE, MILD VARIANT (OMIM:615135)
Gene: PPM1K
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAPLE SYRUP URINE DISEASE, MILD VARIANT (OMIM:615135)
Gene: SLC36A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMINOGLYCINURIA (OMIM:242600)
Gene: SLC36A2
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: HYPERGLYCINURIA (OMIM:138500)