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.
Congenital disorder of glycosylation type 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 9 0.920 None 1.000 6 9 1996 2016
CUI: C1859339
Disease: Midfrontal capillary hemangioma
Midfrontal capillary hemangioma
phenotype Finding 2 1 0.100 None 0
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
disease Disease or Syndrome 3 2 0.010 None 1.000 1 2017 2017
CUI: C4023159
Disease: Reduced factor IX activity
Reduced factor IX activity
phenotype Finding 5 0.100 None 0
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis
phenotype Finding 6 0.100 None 0
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile
phenotype Finding 7 0.100 None 0
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity
phenotype Finding 7 1 0.100 None 0
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 9 0.100 None 0
CUI: C0266036
Disease: Macrodontia
Macrodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.100 None 0
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 13 0.100 None 0
Abnormal isoelectric focusing of serum transferrin
phenotype Finding 15 10 0.100 None 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage
disease Anatomical Abnormality 16 0.100 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
phenotype Finding 17 1 0.100 None 0
Congenital dyserythropoietic anemia, type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 14 0.010 None 1.000 1 1997 1997
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
phenotype Finding 27 4 0.100 None 0
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 52 0.100 None 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb
phenotype Finding 32 3 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone
phenotype Finding 35 5 0.100 None 0
Intellectual disability, progressive
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 22 0.010 None 1.000 1 2020 2020
CUI: C0239137
Disease: Coxa valga
Coxa valga
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature
phenotype Finding 79 14 0.100 None 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 83 17 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0