DisGeNET - a database of gene-disease associations

List of shared genes

Fenestration (morphologic abnormality), C0015826

Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Protein Class

Gene	Uniprot	Gene Full Name	Protein Class	pLI	DSI _v	DPI _v
ACTB	P60709	actin beta	Cellular structure	0.99	0.325	0.923
CSF2	P04141	colony stimulating factor 2	Signaling	0.83	0.330	0.962
LAMC2	Q13753	laminin subunit gamma 2	Enzyme modulator	2.9E-12	0.389	0.923
SMN1	Q16637	survival of motor neuron 1, telomeric	Epigenetic regulator	1.6E-02	0.454	0.769
SMN2	Q16637	survival of motor neuron 2, centromeric		0.10	0.459	0.769