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: C1859093
Disease: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 		1 0 1 0.14 0 0
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		1 0 1 0.14 0 0
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		1 0 1 0.14 0 0
CUI: C2827432
Disease: Bile Acid Synthesis Defect
Bile Acid Synthesis Defect 		1 0 1 0.14 0 0
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		1 0 1 0.14 0 0
CUI: C4020736
Disease: Elevated urinary homovanillic acid
Elevated urinary homovanillic acid 		1 0 1 0.14 0 0
CUI: C4304715
Disease: Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 3 		1 0 1 0.14 0 0
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		1 0 1 0.14 0 0
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A 		1 0 1 0.14 0 0
CUI: C4707897
Disease: Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency 		1 0 1 0.14 0 0
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		1 0 1 0.14 0 0
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		10 0 2 0.13 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 0.12 0 0
CUI: C0019937
Disease: Horner Syndrome
Horner Syndrome 		2 0 1 0.12 0 0
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		11 0 2 0.12 0 0
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		11 0 2 0.12 0 0
CUI: C0751716
Disease: Adult Neuroaxonal Dystrophy
Adult Neuroaxonal Dystrophy 		2 0 1 0.12 0 0
CUI: C0751717
Disease: Juvenile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy 		2 0 1 0.12 0 0
CUI: C0751718
Disease: Late Infantile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy 		2 0 1 0.12 0 0
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 		2 0 1 0.12 0 0
CUI: C3151147
Disease: Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 3 		2 0 1 0.12 0 0
CUI: C4020735
Disease: Elevated urinary vanillylmandelic acid
Elevated urinary vanillylmandelic acid 		2 0 1 0.12 0 0
CUI: C4072887
Disease: Decreased circulating gonadotropin level
Decreased circulating gonadotropin level 		2 0 1 0.12 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 0.12 0 0
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		12 0 2 0.12 0 0