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: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		disease Disease or Syndrome 1 25 0.600 strong 1.000 10 25 2004 2016
CUI: C0220692
Disease: Maxillonasal dysplasia, Binder type
Maxillonasal dysplasia, Binder type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1991 1991
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 0.010 None 1.000 1 2016 2016
CUI: C0266692
Disease: Craniopagus
Craniopagus 		disease Congenital Abnormality 1 0.010 None 1.000 1 1991 1991
CUI: C0795829
Disease: Chromosome 8, trisomy 8q
Chromosome 8, trisomy 8q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C3552136
Disease: HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA 		disease Finding 1 1 0.100 None 0 1
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2008 2008
CUI: C4319808
Disease: Trisomy 13 Syndrome
Trisomy 13 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 2 0.100 None 0
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 2 4 0.100 None 0 1
CUI: C4025317
Disease: Bilateral choanal atresia
Bilateral choanal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 3 0.010 None 1.000 1 2001 2001
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		phenotype Finding 3 0.100 None 0
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.510 None 1.000 9 2005 2015
CUI: C1838608
Disease: Radial aplasia
Radial aplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		disease Congenital Abnormality 4 0.100 None 0
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
Morphological abnormality of the semicircular canal 		disease Anatomical Abnormality 4 2 0.100 None 0 1
CUI: C4023824
Disease: Bifid femur
Bifid femur 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0546952
Disease: Congenital facial asymmetry
Congenital facial asymmetry 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.020 None 1.000 2 2006 2011
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 5 0.010 None 1.000 1 2017 2017
CUI: C0266614
Disease: Bat ear
Bat ear 		disease Congenital Abnormality 5 0.100 None 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		disease Immune System Diseases Congenital Abnormality 6 2 0.010 None 1.000 1 2010 2010
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 0.300 None 0