PORCN, porcupine O-acyltransferase, 64840

N. diseases: 162; N. variants: 9
Source: ALL
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: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 9 1.000 None 0.968 31 9 1962 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 strong 1.000 1 2009 2009
Hyperthyroxinemia, Familial Dysalbuminemic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 12 4 0.300 strong 1.000 1 2007 2007
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.110 None 1.000 1 2015 2015
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 71 13 0.100 None 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
phenotype Finding 30 0.100 None 0
CUI: C1844529
Disease: Midclavicular aplasia
Midclavicular aplasia
phenotype Finding 1 0.100 None 0
CUI: C1844530
Disease: Midclavicular hypoplasia
Midclavicular hypoplasia
phenotype Finding 3 0.100 None 0
CUI: C1844537
Disease: Cleft ala nasi
Cleft ala nasi
phenotype Finding 4 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0332573
Disease: Macule
Macule
phenotype Finding 31 2 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris
disease Eye Diseases Congenital Abnormality 19 1 0.100 None 0