LIPN, lipase family member N, 643418

N. diseases: 34; N. variants: 3
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.
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2011 2011
Congenital Nonbullous Ichthyosiform Erythroderma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.500 limited 1.000 1 2011 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
phenotype Finding 21 2 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0
CUI: C1843359
Disease: Orthokeratosis
Orthokeratosis
phenotype Skin and Connective Tissue Diseases Finding 10 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis
phenotype Finding 16 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype Finding 52 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity
phenotype Finding 22 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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 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: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0013592
Disease: Ectropion
Ectropion
disease Eye Diseases Disease or Syndrome 50 3 0.100 None 0
CUI: C0017086
Disease: Gangrene
Gangrene
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.100 None 0