Source: CLINVAR ×
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: C4283894
Disease: MENTAL RETARDATION, X-LINKED 61
MENTAL RETARDATION, X-LINKED 61 		disease Disease or Syndrome 1 8 0.700 limited 1.000 0 8 2009 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.100 None 1.000 1 1 2015 2015
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 2 0.100 None 1.000 1 1 2015 2015
CUI: C4478462
Disease: Severe feeding problems
Severe feeding problems 		phenotype Finding 1 1 0.100 None 1.000 1 1 2015 2015
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 8 8 0.100 None 0 1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 46 52 0.100 None 0 1
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding 1 1 0.100 None 0 1
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		phenotype Skin and Connective Tissue Diseases Finding 6 5 0.100 None 0 1
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 5 5 0.100 None 0 1
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 8 8 0.100 None 0 1
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 14 16 0.100 None 0 1
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 2 2 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 0 1
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 14 14 0.100 None 0 1