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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		80 11 73 0.36 5 0.21
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 36 0.17 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 42 0.15 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 62 0.15 0 0
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		36 0 27 0.13 0 0
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		31 11 26 0.13 1 3.6E-02
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 28 0.13 0 0
CUI: C0151908
Disease: Dry skin
Dry skin 		159 12 40 0.13 1 3.4E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 43 0.13 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 44 0.13 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 37 0.13 0 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		87 0 31 0.12 0 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		176 0 40 0.12 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 43 0.12 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 0 25 0.12 0 0
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		22 0 22 0.11 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 31 0.11 0 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		24 0 22 0.11 0 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		64 0 26 0.11 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 26 0.11 0 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		37 0 23 0.11 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 36 0.11 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 36 0.11 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 32 0.11 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 22 0.10 0 0