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 follicularis atrichia photophobia syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.740 None 1.000 8 6 1997 2015
Keratosis Follicularis Spinulosa Decalvans, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.740 strong 1.000 5 1 2010 2016
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
disease Disease or Syndrome 1 1 0.700 limited 1.000 2 1 2013 2014
CUI: C4746956
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIX
OSTEOGENESIS IMPERFECTA, TYPE XIX
disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2016 2016
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome
disease Disease or Syndrome 5 3 0.340 None 1.000 5 2013 2017
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.340 None 1.000 5 2010 2016
CUI: C0086873
Disease: Pseudopelade
Pseudopelade
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.330 strong 1.000 4 2008 2013
CUI: C2936846
Disease: Scarring alopecia
Scarring alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 8 0.330 strong 1.000 4 2008 2013
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.320 None 1.000 2 1 2012 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 limited 1.000 1 1997 1997
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2004 2004
CUI: C4016470
Disease: IFAP SYNDROME
IFAP SYNDROME
phenotype Finding 1 0.300 strong 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.200 None 1.000 12 1 2005 2019
CUI: C0334013
Disease: Phrynoderma
Phrynoderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.130 None 1.000 3 1992 2009
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.130 None 1.000 3 2008 2012
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.120 None 1.000 2 1997 2014
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.120 None 1.000 2 2010 2016
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.110 None 1.000 1 2014 2014
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 2165 159 0.110 None 1.000 1 2012 2012
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.110 None 1.000 1 2008 2008
CUI: C0016436
Disease: Folliculitis
Folliculitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 9 0.110 None 1.000 1 2008 2008
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 1978 1978
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.110 None 1.000 1 2008 2008
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.110 None 1.000 1 1992 1992
Ichthyosis follicularis with alopecia and photophobia (IFAP)
disease Disease or Syndrome; Congenital Abnormality 2 1 0.100 None 1.000 12 1 2009 2019