LIPH, lipase H, 200879

N. diseases: 36; N. variants: 4
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: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 27 4 0.700 strong 1.000 15 3 2006 2016
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.500 None 0.933 15 1 2007 2019
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital
disease Skin and Connective Tissue Diseases Congenital Abnormality 5 0.500 None 1.000 2 2011 2012
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 5 0.440 None 1.000 12 1 2008 2015
CUI: C0343073
Disease: Wooly hair
Wooly hair
phenotype Skin and Connective Tissue Diseases Finding 19 0.400 None 1.000 1 2011 2011
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.140 None 1.000 4 2 2009 2017
CUI: C3502073
Disease: Woolly Hair, Autosomal Recessive
Woolly Hair, Autosomal Recessive
disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.100 None 0.923 13 2 2009 2018
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.100 None 0.923 13 1 2008 2019
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp
phenotype Finding 12 1 0.100 None 0
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
disease Disease or Syndrome 1 4 0.100 None 0 4
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair
phenotype Finding 23 1 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 20 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
phenotype Finding 35 1 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 45 1 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
phenotype Finding 68 8 0.100 None 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
phenotype Eye Diseases Finding 13 8 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 18 1 0.100 None 0
CUI: C0221228
Disease: Comedone
Comedone
disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.020 None 1.000 2 2019 2019
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.010 None 1.000 1 2016 2016