TaoMedAI/RareMedData huggingface dataset:
Gene: NCF1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Insomnia (HP:0100785)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Cellulitis (HP:0100658)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Open bite (HP:0010807)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal tubulointerstitial morphology (HP:0001969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Blue irides (HP:0000635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Fever (HP:0001945)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Microdontia (HP:0000691)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Macule (HP:0012733)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Anxiety (HP:0000739)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Depression (HP:0000716)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Elfin facies (HP:0004428)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Myopathy (HP:0003198)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypertension (HP:0000822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Decreased activity of NADPH oxidase (HP:0003206)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Flat cornea (HP:0007720)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Otitis media (HP:0000388)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Rectal abscess (HP:0005224)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Granulomatosis (HP:0002955)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Gene: NCF1
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: NCF1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF1
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: SFTPA1
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Nonspecific interstitial pneumonia (HP:0033584)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Clubbing (HP:0001217)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)