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: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		23 0 23 0.88 0 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		32 0 26 0.81 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 8 0.16 0 0
CUI: C4755264
Disease: Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability and progressive spastic paraplegia 		5 0 4 0.15 0 0
CUI: C0037020
Disease: Shyness
Shyness 		9 0 4 0.13 0 0
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		18 0 5 0.13 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 4 0.12 0 0
CUI: C0346099
Disease: Nevus spilus
Nevus spilus 		3 0 3 0.12 0 0
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		3 0 3 0.12 0 0
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		3 0 3 0.12 0 0
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		14 0 4 0.11 0 0
CUI: C0473574
Disease: Inflammatory linear verrucous epidermal nevus
Inflammatory linear verrucous epidermal nevus 		5 0 3 0.11 0 0
CUI: C3179502
Disease: Linear Verrucous Epidermal Nevus
Linear Verrucous Epidermal Nevus 		5 0 3 0.11 0 0
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus 		6 0 3 0.10 0 0
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		6 0 3 0.10 0 0
CUI: C4022025
Disease: Asymmetric growth
Asymmetric growth 		6 0 3 0.10 0 0
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 0 3 0.10 0 0
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		7 0 3 1.0E-01 0 0
CUI: C0334263
Disease: Trichilemmoma
Trichilemmoma 		8 0 3 9.7E-02 0 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		8 0 3 9.7E-02 0 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		20 0 4 9.5E-02 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 3 9.4E-02 0 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		44 0 6 9.4E-02 0 0
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		9 0 3 9.4E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 5 9.3E-02 0 0