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: C1834405
Disease: Nail dysplasia
Nail dysplasia 		78 0 10 9.3E-02 0 0
CUI: C0150993
Disease: Pitting of nails
Pitting of nails 		8 0 4 9.1E-02 0 0
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		8 0 4 9.1E-02 0 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation 		8 0 4 9.1E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 11 8.8E-02 0 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		112 0 12 8.6E-02 0 0
CUI: C2748652
Disease: Large face
Large face 		11 0 4 8.5E-02 0 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		25 0 5 8.3E-02 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 5 8.3E-02 0 0
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		14 0 4 8.0E-02 0 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		14 0 4 8.0E-02 0 0
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		14 0 4 8.0E-02 0 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		14 0 4 8.0E-02 0 0
CUI: C0423867
Disease: Fine hair
Fine hair 		69 0 8 7.9E-02 0 0
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		42 0 6 7.9E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 9 7.8E-02 0 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		114 0 11 7.7E-02 0 0
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		17 0 4 7.5E-02 0 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		60 0 7 7.5E-02 0 0
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		3 0 3 7.5E-02 0 0
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		3 3 3 7.5E-02 3 0.30
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		4 0 3 7.3E-02 0 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		151 0 13 7.3E-02 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		19 0 4 7.3E-02 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 11 7.2E-02 0 0