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: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 0 4 8.9E-02 0 0
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		7 0 4 8.9E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 6 8.8E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 0 7 8.3E-02 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 12 8.2E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 9 7.5E-02 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 5 7.5E-02 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 5 7.1E-02 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 3 7.1E-02 0 0
CUI: C1864794
Disease: Abnormality of the odontoid process
Abnormality of the odontoid process 		3 0 3 7.1E-02 0 0
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		3 0 3 7.1E-02 0 0
CUI: C2931383
Disease: Chromosomal mosaicism due to mitotic instability
Chromosomal mosaicism due to mitotic instability 		3 0 3 7.1E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 5 7.0E-02 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 3 7.0E-02 0 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae 		4 0 3 7.0E-02 0 0
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		4 0 3 7.0E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 17 6.9E-02 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 5 6.8E-02 0 0
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		22 0 4 6.7E-02 0 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 3 6.7E-02 0 0
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma 		7 0 3 6.5E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 8 6.5E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 5 6.5E-02 0 0
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		73 0 7 6.5E-02 0 0
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		73 0 7 6.5E-02 0 0