Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 1 6.5E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 8.3E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 2.0E-03 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 1 8.8E-03 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 1 2.9E-02 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 1 1.0E-01 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 1 1.8E-02 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 1 6.7E-02 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 1 2.6E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 4.2E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 6.0E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 5.7E-03 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 1 1.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 4.0E-02 0 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		259 0 1 3.9E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 3.4E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 1 2.9E-02 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 8.1E-03 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 1 7.1E-02 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 1 9.1E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 1 2.7E-03 0 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		30 0 1 3.3E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 1 9.5E-03 0 0