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: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.730 None 1.000 5 1 2008 2016
CUI: C0268355
Disease: Cutis Laxa, Autosomal Recessive, Type IIA
Cutis Laxa, Autosomal Recessive, Type IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 10 0.700 None 1.000 4 10 2008 2013
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		disease Disease or Syndrome 3 2 0.300 None 1.000 2 2008 2009
CUI: C4479387
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		disease Disease or Syndrome 3 2 0.300 None 1.000 2 2008 2009
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.200 None 1.000 10 2008 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.110 None 1.000 1 2011 2011
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		phenotype Laboratory Procedure 25 70 0.100 None 1.000 1 1 2012 2012
CUI: C2931006
Disease: Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 1L 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 3 0.100 None 1.000 1 1 2009 2009
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1837467
Disease: Excessive skin wrinkling on dorsum of hands and fingers
Excessive skin wrinkling on dorsum of hands and fingers 		phenotype Finding 1 0.100 None 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype Finding 65 12 0.100 None 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype Mental Disorders Finding 13 2 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		phenotype Finding 16 3 0.100 None 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		phenotype Finding 16 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		phenotype Finding 3 2 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		phenotype Finding 4 1 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 5 0.100 None 0
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: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 0