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: C3697248
Disease: Short lower third of face
Short lower third of face 		33 0 1 2.9E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 1 2.9E-02 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 1 2.9E-02 0 0
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		34 0 1 2.9E-02 0 0
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		35 0 1 2.8E-02 0 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		37 0 1 2.6E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 1 2.4E-02 0 0
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		42 0 1 2.3E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 1 1.9E-02 0 0
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		55 0 1 1.8E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.8E-02 0 0
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 1 1.6E-02 0 0
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		66 0 1 1.5E-02 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 1 1.5E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 1 1.4E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 9 1 1.4E-02 1 0.11
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		77 0 1 1.3E-02 0 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		80 0 1 1.2E-02 0 0
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		84 0 1 1.2E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.2E-02 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 1 1.1E-02 0 0
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		100 0 1 9.9E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 9.9E-03 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 1 9.6E-03 0 0
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		104 0 1 9.5E-03 0 0