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: C4479599
Disease: STANKIEWICZ-ISIDOR SYNDROME
STANKIEWICZ-ISIDOR SYNDROME
disease Disease or Syndrome 1 4 0.400 strong 1.000 1 4 2017 2017
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity
phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 None 1.000 1 2015 2015
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.300 None 1.000 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2017 2018
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2012 2012
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
CUI: C1335411
Disease: Cyst of pineal gland
Cyst of pineal gland
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 111 16 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype Finding 67 11 0.100 None 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 49 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
Hypoplasia involving bones of the upper limbs
phenotype Finding 9 3 0.100 None 0
CUI: C1844734
Disease: Hemihypotrophy of lower limb
Hemihypotrophy of lower limb
phenotype Finding 3 0.100 None 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles
disease Anatomical Abnormality 17 1 0.100 None 0
Impaired visuospatial constructive cognition
phenotype Finding 15 0.100 None 0