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: C3279090
Disease: Unilateral vertebral artery hypoplasia
Unilateral vertebral artery hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C4017128
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4
SPONDYLOCOSTAL DYSOSTOSIS 4 		phenotype Finding 1 0.300 limited 0
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2013 2013
CUI: C1864794
Disease: Abnormality of the odontoid process
Abnormality of the odontoid process 		phenotype Finding 3 0.100 None 0
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 4 3 0.600 strong 1.000 2 3 2008 2010
CUI: C1844753
Disease: Block vertebrae
Block vertebrae 		phenotype Finding 4 0.100 None 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		disease Disease or Syndrome 5 13 0.100 None 0 4
CUI: C2677299
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2015 2015
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		disease Musculoskeletal Diseases Disease or Syndrome 6 3 0.300 None 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.310 None 1.000 1 2015 2015
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: 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 0.440 limited 1.000 4 1 2008 2019
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		phenotype Finding 12 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: C0013393
Disease: Dysostoses
Dysostoses 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2008 2008
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		phenotype Respiratory Tract Diseases Disease or Syndrome 16 6 0.100 None 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		phenotype Finding 19 0.100 None 0
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.010 None 1.000 1 2015 2015
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		disease Anatomical Abnormality 31 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: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 37 2 0.100 None 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.100 None 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype Pathologic Function 42 1 0.100 None 0