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: C0796182
Disease: Acromelic frontonasal dysplasia
Acromelic frontonasal dysplasia 		1 0 1 1.00 0 0
CUI: C4021763
Disease: Abnormality of the glabella
Abnormality of the glabella 		1 0 1 1.00 0 0
CUI: C4024973
Disease: Midline central nervous system lipomas
Midline central nervous system lipomas 		1 0 1 1.00 0 0
CUI: C4693405
Disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 		1 0 1 1.00 0 0
CUI: C1843677
Disease: Large sella turcica
Large sella turcica 		3 0 1 0.33 0 0
CUI: C1850968
Disease: Median cleft palate
Median cleft palate 		3 0 1 0.33 0 0
CUI: C1969181
Disease: Aplasia/Hypoplasia of the tibia
Aplasia/Hypoplasia of the tibia 		3 0 1 0.33 0 0
CUI: C1845370
Disease: Retrocerebellar cyst
Retrocerebellar cyst 		4 0 1 0.25 0 0
CUI: C4025411
Disease: Midline defect of the nose
Midline defect of the nose 		4 0 1 0.25 0 0
CUI: C1840068
Disease: Patellar hypoplasia
Patellar hypoplasia 		5 0 1 0.20 0 0
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		5 0 1 0.20 0 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		7 0 1 0.14 0 0
CUI: C0221363
Disease: Bifid nose
Bifid nose 		9 0 1 0.11 0 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		10 0 1 1.0E-01 0 0
CUI: C1851059
Disease: Broad columella
Broad columella 		10 0 1 1.0E-01 0 0
CUI: C1856115
Disease: Happy demeanor
Happy demeanor 		10 0 1 1.0E-01 0 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		10 0 1 1.0E-01 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 0 1 6.7E-02 0 0
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		16 0 1 6.2E-02 0 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis 		17 0 1 5.9E-02 0 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		17 0 1 5.9E-02 0 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		18 0 1 5.6E-02 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		26 0 1 3.8E-02 0 0
CUI: C0278076
Disease: Behavioral tic
Behavioral tic 		31 0 1 3.2E-02 0 0
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst 		33 0 1 3.0E-02 0 0