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: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		disease Mental or Behavioral Dysfunction 1 7 0.400 None 1.000 0 7 2015 2018
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 21 29 0.100 None 1.000 1 3 2017 2017
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 9 24 0.100 None 1.000 1 4 2017 2017
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		phenotype Behavior and Behavior Mechanisms Pathologic Function 3 13 0.100 None 1.000 1 8 2017 2017
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 1 2 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 9 2017 2017
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 39 59 0.100 None 1.000 1 8 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 1.000 1 8 2017 2017
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 1.000 1 8 2017 2017
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 5 0.100 None 1.000 1 1 2017 2017
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 4 5 0.100 None 1.000 1 1 2017 2017
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 2 3 0.100 None 1.000 1 2 2017 2017
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.100 None 1.000 1 2 2017 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 1 4 2017 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 162 240 0.100 None 1.000 1 1 2017 2017
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 31 34 0.100 None 1.000 1 1 2017 2017