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: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 16 0.770 strong 1.000 10 16 2014 2018
CUI: C1834042
Disease: Hypoplasia of facial musculature
Hypoplasia of facial musculature 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1542327
Disease: Fetus or newborn affected by alcohol transmitted via placenta or breast milk
Fetus or newborn affected by alcohol transmitted via placenta or breast milk 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Finding 2 0.300 None 1.000 1 2003 2003
CUI: C1839707
Disease: AUTISM, SEVERE
AUTISM, SEVERE 		disease Finding 2 2 0.100 None 0 1
CUI: C2748932
Disease: Slanting of the palpebral fissure
Slanting of the palpebral fissure 		phenotype Finding 2 0.100 None 0
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 0.100 None 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 7 3 0.100 None 0 1
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 9 92 0.010 None 1.000 1 2017 2017
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		phenotype Finding 12 0.100 None 0
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype Pathologic Function 13 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		phenotype Finding 13 0.100 None 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		phenotype Finding 13 0.100 None 0
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		phenotype Finding 14 0.100 None 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 2 0.100 None 0
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		disease Eye Diseases Anatomical Abnormality 16 3 0.100 None 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype Finding 18 8 0.100 None 0
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0 1
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 20 3 0.100 None 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		phenotype Finding 25 3 0.100 None 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0 1
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 28 0.100 None 0
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 0