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: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 7 8.6E-02 0 0
CUI: C1864449
Disease: Limited neck flexion
Limited neck flexion 		3 0 3 8.6E-02 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 4 8.5E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 8 8.3E-02 0 0
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		4 0 3 8.3E-02 0 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		4 0 3 8.3E-02 0 0
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		4 0 3 8.3E-02 0 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle 		5 0 3 8.1E-02 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 3 8.1E-02 0 0
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		19 0 4 8.0E-02 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 9 8.0E-02 0 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		22 0 4 7.5E-02 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 3 7.5E-02 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 10 7.4E-02 0 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		9 0 3 7.3E-02 0 0
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy 		10 0 3 7.1E-02 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 4 7.1E-02 0 0
CUI: C0423823
Disease: Thin nails
Thin nails 		10 0 3 7.1E-02 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 7 7.1E-02 0 0
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		10 0 3 7.1E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 8 7.1E-02 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 6 7.1E-02 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 0 3 7.0E-02 0 0
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		11 0 3 7.0E-02 0 0
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		11 0 3 7.0E-02 0 0