Source: CLINVAR ×
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: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		1 0 1 0.50 0 0
CUI: C0268276
Disease: Juvenile GM 2 gangliosidosis
Juvenile GM 2 gangliosidosis 		1 2 1 0.50 2 1.9E-02
CUI: C1848913
Disease: Tay-Sachs Disease, Juvenile
Tay-Sachs Disease, Juvenile 		1 0 1 0.50 0 0
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		1 4 1 0.50 3 2.9E-02
CUI: C2749283
Disease: Gm2-Gangliosidosis, Variant B1
Gm2-Gangliosidosis, Variant B1 		1 0 1 0.50 0 0
CUI: C2874270
Disease: GM2-GANGLIOSIDOSIS, ADULT
GM2-GANGLIOSIDOSIS, ADULT 		1 1 1 0.50 1 9.7E-03
CUI: C4016988
Disease: GM2-GANGLIOSIDOSIS, CHRONIC
GM2-GANGLIOSIDOSIS, CHRONIC 		1 2 1 0.50 2 1.9E-02
CUI: C4017633
Disease: HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE
HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE 		1 1 1 0.50 1 9.7E-03
CUI: C4310843
Disease: TAY-SACHS DISEASE, JUVENILE/ADULT
TAY-SACHS DISEASE, JUVENILE/ADULT 		1 1 1 0.50 1 9.7E-03
CUI: C4310890
Disease: GM2-GANGLIOSIDOSIS, SUBACUTE
GM2-GANGLIOSIDOSIS, SUBACUTE 		1 0 1 0.50 0 0
CUI: C4310891
Disease: GM2-GANGLIOSIDOSIS, LATE ONSET
GM2-GANGLIOSIDOSIS, LATE ONSET 		1 2 1 0.50 1 9.6E-03
CUI: C4310892
Disease: BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF 		1 0 1 0.50 0 0
CUI: C4310893
Disease: GM2-GANGLIOSIDOSIS, ADULT-ONSET
GM2-GANGLIOSIDOSIS, ADULT-ONSET 		1 1 1 0.50 1 9.7E-03
CUI: C0034880
Disease: Hyperacusis
Hyperacusis 		2 9 1 0.33 8 7.7E-02
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		2 15 1 0.33 14 0.13
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		2 6 1 0.33 5 4.8E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 4.5E-02 2 1.5E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 1 4.2E-02 5 4.0E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 1 3.0E-02 1 7.0E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 1 2.5E-02 15 9.0E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 1 1.2E-02 1 5.1E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 1 1.1E-02 5 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 1 7.8E-03 2 7.5E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 1 6.1E-03 2 5.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.2E-03 11 2.2E-02