Source: CLINVAR ×
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: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 0 1 8.3E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 2.4E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 0 1 5.6E-02 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 0 1 4.5E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 2.0E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		8 0 1 8.3E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 2.9E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 1.4E-02 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		2 0 1 0.17 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 2 4.3E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 4.0E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.5E-02 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		15 0 1 5.3E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 0 3 0.12 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 2 3.4E-02 0 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		2 0 1 0.17 0 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		6 0 1 1.0E-01 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 0 1 3.3E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 3.1E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		11 0 1 6.7E-02 0 0
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		11 0 1 6.7E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 2.9E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		7 0 1 9.1E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		5 0 1 0.11 0 0