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: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		5 0 3 0.60 0 0
CUI: C0270150
Disease: Perinatal respiratory failure
Perinatal respiratory failure 		1 0 1 0.33 0 0
CUI: C0333072
Disease: Claw-shaped deformity
Claw-shaped deformity 		1 0 1 0.33 0 0
CUI: C1655035
Disease: congenital muscle disorder
congenital muscle disorder 		1 0 1 0.33 0 0
CUI: C1858279
Disease: Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma 		1 0 1 0.33 0 0
CUI: C1858280
Disease: Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma 		1 0 1 0.33 0 0
CUI: C4024922
Disease: Irregular myelin loops
Irregular myelin loops 		1 0 1 0.33 0 0
CUI: C1846169
Disease: Myotubular Myopathy with Abnormal Genital Development
Myotubular Myopathy with Abnormal Genital Development 		2 0 1 0.25 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		14 0 3 0.21 0 0
CUI: C1848182
Disease: Blind vagina
Blind vagina 		3 0 1 0.20 0 0
CUI: C0426440
Disease: Large nostrils
Large nostrils 		4 0 1 0.17 0 0
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		12 0 2 0.15 0 0
CUI: C0452168
Disease: Hypospadias, balanic
Hypospadias, balanic 		5 0 1 0.14 0 0
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		6 0 1 0.12 0 0
CUI: C1839271
Disease: Birth length greater than 97th percentile
Birth length greater than 97th percentile 		6 0 1 0.12 0 0
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		15 0 2 0.12 0 0
CUI: C4021168
Disease: Slender toe
Slender toe 		6 0 1 0.12 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 2 0.11 0 0
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		8 0 1 1.0E-01 0 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		8 0 1 1.0E-01 0 0
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		9 0 1 9.1E-02 0 0
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		21 0 2 9.1E-02 0 0
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		21 0 2 9.1E-02 0 0
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		21 0 2 9.1E-02 0 0
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		9 0 1 9.1E-02 0 0