PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 209; N. variants: 100
Source: INFERRED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.720 None 1.000 18 56 1997 2017
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.700 strong 1.000 9 8 1997 2016
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 3 0.600 None 1.000 33 94 1997 2017
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.600 strong 1.000 17 11 1997 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.400 strong 1.000 0 2016 2016
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 622 0.110 None 1.000 0 2016 2016
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.110 None 1.000 0 1 1998 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1259 0.110 None 1.000 0 2014 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 199 0.110 None 1.000 0 2016 2016
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype Finding 23 0.100 None 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 0.100 None 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 0.100 None 0 1
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 0.100 None 0 1
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 56 0.100 None 0 1
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		phenotype Finding 16 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0 1
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 942 0.100 None 0 1
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 189 0.100 None 0 1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 0.100 None 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 0.100 None 0
CUI: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture 		phenotype Finding 2 0.100 None 0 1
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 21 0.100 None 0