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.
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
disease Musculoskeletal Diseases Disease or Syndrome 6 3 0.700 None 1.000 2 3 2006 2016
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.420 limited 1.000 2 1 2018 2019
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.300 None 0
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2015 2015
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
phenotype Organism Function 131 1106 0.100 None 1.000 1 1 2015 2015
Abnormality of immune system physiology
phenotype Pathologic Function 42 1 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
Abnormality of female internal genitalia
disease Anatomical Abnormality 31 0.100 None 0
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 14 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 0.100 None 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 11 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
phenotype Finding 19 0.100 None 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process
phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
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 0.100 None 0
Abnormality of the intervertebral disk
disease Anatomical Abnormality 30 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities
phenotype Finding 12 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger
phenotype Finding 20 5 0.100 None 0