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: C1850190
Disease: Superiorly displaced ears
Superiorly displaced ears 		phenotype Finding 1 0.100 None 0
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 2 11 0.770 None 1.000 8 11 2010 2020
CUI: C1408806
Disease: Calcification of the auricular cartilage
Calcification of the auricular cartilage 		phenotype Pathologic Function 2 0.100 None 0
CUI: C4280644
Disease: Increased size of the mandible
Increased size of the mandible 		phenotype Finding 2 0.100 None 0
CUI: C1848192
Disease: Absent facial hair
Absent facial hair 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C1850196
Disease: Posterior scalloping of vertebral bodies
Posterior scalloping of vertebral bodies 		phenotype Finding 3 0.100 None 0
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		phenotype Finding 5 4 0.100 None 0 1
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair 		phenotype Finding 7 1 0.100 None 0
CUI: C1707439
Disease: Colorectal Mucinous Adenocarcinoma
Colorectal Mucinous Adenocarcinoma 		disease Neoplasms Neoplastic Process 8 2 0.100 None 1.000 1 1 2018 2018
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		phenotype Finding 8 0.100 None 0
CUI: C1850191
Disease: Posterior polar cataract
Posterior polar cataract 		phenotype Finding 8 0.100 None 0
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 9 0.010 None 1.000 1 2018 2018
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0032209
Disease: Platybasia
Platybasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0 1
CUI: C3551426
Disease: Dystrophic fingernails
Dystrophic fingernails 		phenotype Finding 27 0.100 None 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		disease Musculoskeletal Diseases Acquired Abnormality 34 0.100 None 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 38 4 0.100 None 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.100 None 0
CUI: C0085159
Disease: Seasonal Affective Disorder
Seasonal Affective Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 57 17 0.010 None 1.000 1 2018 2018