Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 20	MONDO:0014601	SNX14	Causal	—	ClinGen ClinVar GenCC
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 7	MONDO:0012235	TPP1	Causal	18684116 23418007 26224725 31283065 9295267	ClinVar GWAS catalog
SPINOCEREBELLAR ATAXIA 1	164400	ATXN1	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 10	603516 C1963674 MESH:C566874	ATXN10	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 11	604432 C1858351 MESH:C565772	TTBK2	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 12	604326 C1858501 MESH:C565790	PPP2R2B	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 13	605259 C1854488 MESH:C537195	KCNC3	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 14	605361 C1854369 MESH:C537196	PRKCG	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 15	606658 C1847725 MESH:C564685	ITPR1	Unknown	22986007	CTD Disgenet HPO
		RUBCN	Unknown	—	Disgenet
		SUMF1	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 17	C1846707 MESH:C564616 607136	ATP5F1B	Unknown	24413982	CTD Disgenet
		HMOX1	Unknown	24413982	CTD Disgenet
		HSPA5	Unknown	24413982	CTD Disgenet
		HSPA8	Unknown	24413982	CTD Disgenet
		HYOU1	Unknown	24413982	CTD Disgenet
		NQO1	Unknown	24413982	CTD Disgenet
		P4HB	Unknown	24413982	CTD Disgenet
		PDIA3	Unknown	24413982	CTD Disgenet
		TBP	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 18	C1843884	IFRD1	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 19	C1846367 607346 MESH:C537198	EEF2	Unknown	—	Disgenet
		KCND3	Unknown	—	CTD Disgenet HPO
		LAMA4	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 2	183090	ATXN2	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 21	607454 C1843891 MESH:C537200	TMEM240	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 23	610245 C1853250 MESH:C537201	PDYN	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 25	608703 C1837518 MESH:C537202	PNPT1	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 26	609306 C1836395 MESH:C537203	EEF2	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 27	C1836383 MESH:C537204	FGF14	Unknown	26089778	CTD Disgenet
SPINOCEREBELLAR ATAXIA 27A	193003 MONDO:0008654 OMIM:193003	FGF14	Causal	12123606 12489043 15470364 17978045 24252256 25530029 25566820 30017992 36493768	CTD ClinVar Disgenet HPO
SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET	620174 C5774278 MONDO:0859340	FGF14	Causal	—	ClinVar Disgenet HPO
SPINOCEREBELLAR ATAXIA 28	610246 C1853249 MESH:C537205	AFG3L2	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 28	610246 C1853249 MESH:C537205	TUBB6	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 29	117360 C1861732 MESH:C537206	ITPR1	Unknown	22986007	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 31	117210 C1861736 MESH:C566146	BEAN1	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA 31	117210 C1861736 MESH:C566146	PLEKHG4	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 34	133190	ELOVL4	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 35	613908 C3888031	TGM6	Unknown	—	Disgenet HPO
SPINOCEREBELLAR ATAXIA 36	614153 C3472711	NOP56	Unknown	—	Disgenet HPO
SPINOCEREBELLAR ATAXIA 37	615945 C3889636	DAB1	Unknown	—	Disgenet HPO
SPINOCEREBELLAR ATAXIA 38	615957	ELOVL5	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 4	600223	ZFHX3	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 40	616053	CCDC88C	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 41	616410	TRPC3	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 42	616795	CACNA1G	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087 C4748120 MONDO:0060758	CACNA1G	Causal	26456284 29878067 31229688	ClinVar Disgenet HPO
SPINOCEREBELLAR ATAXIA 43	617018 C4310763 MONDO:0014867	MME	Causal	—	ClinVar Disgenet GenCC HPO
SPINOCEREBELLAR ATAXIA 44	617691 C4521563 MONDO:0033479	GRM1	Causal	28886343	ClinVar Disgenet GWAS catalog HPO
SPINOCEREBELLAR ATAXIA 45	617769 MONDO:0033480	FAT2	Causal	12213440 29053796	ClinVar GWAS catalog HPO

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Spinocerebellar ataxia