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: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 3 7.9E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 13 7.8E-02 12 4.7E-02
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		9 0 2 7.7E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 9 2 7.7E-02 2 6.7E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		9 10 2 7.7E-02 2 6.5E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		9 13 2 7.7E-02 3 9.1E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 3 7.5E-02 4 8.0E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 0 2 7.4E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 11 2 7.4E-02 2 6.2E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 4 7.1E-02 2 2.6E-02
CUI: C1843108
Disease: Short palm
Short palm 		11 13 2 7.1E-02 2 5.9E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		11 13 2 7.1E-02 1 2.9E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		11 13 2 7.1E-02 2 5.9E-02
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 13 2 6.9E-02 2 5.9E-02
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		12 0 2 6.9E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 39 3 6.8E-02 5 8.8E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 4 6.8E-02 3 3.1E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 33 2 6.7E-02 1 1.8E-02
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 2 6.7E-02 1 2.6E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 4 6.6E-02 2 2.7E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 0 3 6.5E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		14 17 2 6.5E-02 1 2.6E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 0 2 6.5E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		14 14 2 6.5E-02 1 2.8E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 3 6.4E-02 4 7.0E-02