Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ADULT-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL DOMINANT	MONDO:0008453	VAPB	Causal	15372378 24212516	CTD
BICD2-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY	363454	BICD2	Unknown	23664119	Orphanet
DYNC1H1-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY	209341	DYNC1H1	Unknown	22459677	Orphanet
SPINAL MUSCULAR ATROPHIES OF CHILDHOOD	C0700595 MESH:D014897	DYNC1H1	Unknown	—	CTD Disgenet
		SMN1	Unknown	17924536	CTD Disgenet
		SMN2	Unknown	—	CTD
SPINAL MUSCULAR ATROPHY	C0026847 HP:0007269 MONDO:0001516	DYNC1H1	Causal	—	Disgenet
		IGHMBP2	Causal	—	Disgenet
		SMN1	Causal	—	ClinVar Disgenet GenCC
		VRK1	Causal	—	Disgenet
		ANKRD1	Unknown	—	Disgenet
		AR	Unknown	—	Disgenet
		ARHGEF10	Unknown	—	Disgenet
		DPP6	Unknown	—	Disgenet
		GEMIN2	Unknown	—	ClinVar
		HEXB	Unknown	—	Disgenet
		SMN2	Unknown	—	Disgenet
		SMNDC1	Unknown	—	ClinVar
		TLL2	Unknown	—	Disgenet
		TRPV4	Unknown	—	Disgenet
		VAPB	Unknown	—	Disgenet
SPINAL MUSCULAR ATROPHY 4	MESH:C538417	SMN1	Unknown	—	CTD
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1	616866 C4225177 MONDO:0014806 OMIM:616866	TRIP4	Causal	—	CTD ClinVar Disgenet GenCC HPO
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2	616867 C4225176 MONDO:0014807 OMIM:616867	ASCC1	Causal	26924529 28218388 30327447 32160656 34204919	CTD ClinVar Disgenet GWAS catalog HPO
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY	159950 OMIM:159950	ASAH1	Unknown	—	CTD HPO
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	C1858517 MESH:C536880	IGHMBP2	Unknown	—	CTD Disgenet
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1	98920	IGHMBP2	Unknown	11528396	Orphanet
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 2	404521 MONDO:0018450 C4749434	LAS1L	Unknown	24647030	GWAS catalog Orphanet
SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT	C1834690	BICD2	Unknown	—	Disgenet
	C1834690	DYNC1H1	Unknown	—	Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	C1970211 MESH:C567023	PLEKHG5	Unknown	—	CTD Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	C1970211 MESH:C567023	TNFRSF25	Unknown	—	Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 6	MONDO:0859279	REEP1	Causal	—	ClinVar GenCC
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE	C1838492 MESH:C563981	TRPV4	Unknown	20037588	CTD Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	C1845359 MESH:C564506	ATP7A	Unknown	—	CTD Disgenet
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE	C1866783	PLEKHG5	Causal	—	Disgenet
SPINAL MUSCULAR ATROPHY, INFANTILE	C5848259	NAIP	Unknown	—	Disgenet
		SMN1	Unknown	—	Disgenet
		SMN2	Unknown	—	Disgenet
SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE	619042 C5436669 MONDO:0033621	GARS1	Causal	—	ClinVar Disgenet GenCC HPO
SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE	619042 C5436669 MONDO:0033621	FHOD3	Unknown	—	Disgenet
SPINAL MUSCULAR ATROPHY, JERASH TYPE	C1854023 MESH:C535715	DNAJB2	Unknown	—	Disgenet
		FBXO38	Unknown	—	Disgenet
		HSPB1	Unknown	—	Disgenet
		HSPB3	Unknown	—	Disgenet
		HSPB8	Unknown	—	Disgenet
		SIGMAR1	Unknown	—	CTD Disgenet
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	615048 C3554398 OMIM:615048	CHCHD10	Unknown	—	CTD Disgenet HPO
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE	C1854058	KIF1B	Unknown	—	Disgenet

Spinal muscular atrophy