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: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		disease Mental or Behavioral Dysfunction 1 9 0.700 strong 1.000 2 9 2014 2016
CUI: C4025413
Disease: Curved fingers
Curved fingers 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5 		phenotype Finding 1 0.100 None 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		phenotype Finding 1 0.100 None 0
CUI: C4477068
Disease: Abnormality of the periodontium
Abnormality of the periodontium 		phenotype Finding 1 0.100 None 0
CUI: C4531077
Disease: Abnormal thyroid hormone level
Abnormal thyroid hormone level 		phenotype Finding 1 0.100 None 0
CUI: C4524805
Disease: stage IVA gastric cancer
stage IVA gastric cancer 		disease Neoplastic Process 2 0.010 None 1.000 1 1993 1993
CUI: C0857276
Disease: Patellar subluxation
Patellar subluxation 		phenotype Pathologic Function 2 0.100 None 0
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 3 1 0.020 None 1.000 2 1994 2000
CUI: C3806746
Disease: MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 99 		disease Disease or Syndrome 3 4 0.700 None 1.000 2 4 2014 2016
CUI: C4024864
Disease: Depigmentation/hyperpigmentation of skin
Depigmentation/hyperpigmentation of skin 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb 		phenotype Finding 3 2 0.100 None 0
CUI: C0730322
Disease: Multiple evanescent white dot syndrome
Multiple evanescent white dot syndrome 		disease Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0277873
Disease: Nasal Flaring
Nasal Flaring 		phenotype Sign or Symptom 5 0.100 None 0
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		phenotype Finding 6 0.100 None 0
CUI: C4551517
Disease: Flared nostrils abnormality
Flared nostrils abnormality 		phenotype Finding 6 1 0.100 None 0
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2020 2020
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		disease Disease or Syndrome 10 10 0.010 None 1.000 1 2017 2017
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 6 0.010 None 1.000 1 1994 1994
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		phenotype Finding 10 2 0.100 None 0
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		group Anatomical Abnormality 10 7 0.100 None 0 1
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 3 0.100 None 0 1
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype Finding 12 3 0.100 None 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 17 12 0.100 None 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0