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: C0036572
Disease: Seizures
Seizures 		237 417 20 7.2E-02 19 4.0E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 5 7.1E-02 3 3.1E-02
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 62 5 7.1E-02 3 2.1E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 10 7.1E-02 13 6.9E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 7 7.0E-02 5 3.8E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 5 6.9E-02 6 6.2E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 6 6.9E-02 6 5.2E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 9 6.9E-02 5 1.7E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		16 19 5 6.8E-02 4 4.1E-02
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 25 5 6.8E-02 1 9.3E-03
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		16 17 5 6.8E-02 3 3.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 8 6.8E-02 5 3.2E-02
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 105 5 6.7E-02 2 1.1E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 7 6.7E-02 6 4.4E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 21 5 6.5E-02 5 5.1E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		20 26 5 6.5E-02 7 6.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 24 6.4E-02 5 7.3E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 9 6.4E-02 3 1.6E-02
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		6 14 4 6.2E-02 2 2.1E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 16 6.2E-02 13 2.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 13 6.2E-02 11 3.5E-02
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		7 7 4 6.2E-02 2 2.3E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 5 6.0E-02 4 1.6E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 6 6.0E-02 8 6.0E-02
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 12 4 5.9E-02 1 1.1E-02