Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SPINOCEREBELLAR ATAXIA 46	617770 MONDO:0033481	PLD3	Causal	29053796	ClinVar GWAS catalog HPO
SPINOCEREBELLAR ATAXIA 47	C5888376 MONDO:0033482	PUM1	Causal	25768905 29474920 30903679 31422002 31859446	ClinVar Disgenet GWAS catalog
SPINOCEREBELLAR ATAXIA 48	618093 C4748158 MONDO:0032526	STUB1	Causal	—	ClinVar Disgenet GenCC HPO
		JMJD8	Unknown	—	Disgenet
		RHBDL1	Unknown	—	Disgenet
		WDR24	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 49	619806 C5676950 MONDO:0030805	SAMD9L	Unknown	—	ClinVar Disgenet GenCC HPO
SPINOCEREBELLAR ATAXIA 5	600224	SPTBN2	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 50	620158 C5774272 MONDO:0859334	NPTX1	Causal	34788392 35285082 35288776 35560436	ClinVar Disgenet HPO
SPINOCEREBELLAR ATAXIA 50	620158 C5774272 MONDO:0859334	SPG21	Unknown	—	Disgenet
SPINOCEREBELLAR ATAXIA 51	620947 MONDO:0975800	THAP11	Unknown	—	ClinVar HPO
SPINOCEREBELLAR ATAXIA 6	183086	CACNA1A	Unknown	—	HPO
SPINOCEREBELLAR ATAXIA 7	164500 MONDO:0016163	ATXN7	Causal	7477379 9288099 8908515	ClinVar GWAS catalog HPO
SPINOCEREBELLAR ATAXIA 8	608768 C1837454 MESH:C537307	ATXN8	Unknown	—	CTD Disgenet HPO
SPINOCEREBELLAR ATAXIA TYPE 1	98755 C0752120 MONDO:0008119	ATXN1	Causal	11673415 15148151 18337722 18418661 22053053 29533923 8198139 8358429 8619528	ClinVar Disgenet GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 10	98761 MONDO:0011330	ATXN10	Unknown	11506407 15505178 16385455 16717236 16924013 17420323 19936807 20548952 22065565 24278426	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 11	98767 MONDO:0011464	TTBK2	Causal	18037885 20301317 20667868 21548880 2314154 23141541 27165044 30532139 31485862	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 12	98762 MONDO:0011439	PPP2R2B	Unknown	10581021 11198281 16138911 20533062	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 13	98768 MONDO:0011529	KCNC3	Causal	16501573 18448641 19953606 20712895 21543613 24218544 25756792 25981959 28444220 29482223 31692161 31907387 33446253	ClinGen ClinVar Disgenet Orphanet
SPINOCEREBELLAR ATAXIA TYPE 14	98763 MONDO:0011540	PRKCG	Causal	—	ClinVar GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 15/16	98769 MONDO:0011694	ITPR1	Causal	17590087 20082166 20301536 21367767 21555639 25794864 27108797	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 17	98759 MONDO:0011781	TBP	Causal	—	ClinVar GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 18	98771 MONDO:0011834	IFRD1	Unknown	—	GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 19/22	98772 MONDO:0011819	KCND3	Causal	22890214	ClinVar GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 2	98756 C0752121 MONDO:0008458	ATXN2	Causal	—	ClinGen ClinVar Disgenet GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 21	98773 MONDO:0011833	TMEM240	Causal	25070513 32705938 30522958 29687291 26813285 34053174 35001331 36123134	ClinVar Disgenet Orphanet
SPINOCEREBELLAR ATAXIA TYPE 23	101108 MONDO:0012449	PDYN	Causal	21035104 23471613 25595316 26169942	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 25	101111 MONDO:0012103	PNPT1	Causal	35411967	ClinVar GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 25	101111 MONDO:0012103	SCA25	Unknown	—	Orphanet
SPINOCEREBELLAR ATAXIA TYPE 26	101112 MONDO:0012246	EEF2	Causal	15732118 20301317 23001565	CTD ClinVar Orphanet
SPINOCEREBELLAR ATAXIA TYPE 27	MONDO:0012247	FGF14	Causal	—	ClinVar GenCC
SPINOCEREBELLAR ATAXIA TYPE 27A	98764	FGF14	Unknown	—	Orphanet
SPINOCEREBELLAR ATAXIA TYPE 27B	675216 C5925077	FGF14	Unknown	36516086	Disgenet Orphanet
SPINOCEREBELLAR ATAXIA TYPE 28	101109 MONDO:0012450	AFG3L2	Causal	16251216 19625515 20208537 20725928 24814845 30389403 30910913	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 29	208513 MONDO:0007298	ITPR1	Causal	11334652 22986007 25794864 27062503 28620721 29925855 30429331 31632679 37964426 8538767	ClinGen ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 31	217012 MONDO:0007296	BEAN1	Unknown	17611710 19878914 20301317 22049201 22992774 23607545 28362824	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 34	1955 MONDO:0007574	ELOVL4	Causal	24566826	ClinVar GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 35	276193 MONDO:0013485	TGM6	Causal	21106500 22554020 23355175 24123792 25133958 25253745 25356970 28214262 28362824 28927799	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 36	276198 MONDO:0013594	NOP56	Causal	—	ClinVar GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 37	363710 MONDO:0014410	DAB1	Unknown	28686858 29939198 30588707	ClinVar Disgenet Orphanet
SPINOCEREBELLAR ATAXIA TYPE 37	363710 MONDO:0014410	SCA37	Unknown	23700170	Orphanet
SPINOCEREBELLAR ATAXIA TYPE 38	423296 MONDO:0014417 C4518337	ELOVL5	Causal	18838740 25065913 27143115 29482223 31692161 32314013	ClinVar GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 4	C0752122 98765 MONDO:0010847	VPS13D	Causal	—	Disgenet
		PLEKHG4	Unknown	18293026 20301317 21267591	Orphanet
		ZFHX3	Unknown	—	ClinVar Disgenet GenCC
SPINOCEREBELLAR ATAXIA TYPE 40	423275 C4518336 MONDO:0014475	CCDC88C	Causal	25062847	ClinVar Disgenet GenCC Orphanet
SPINOCEREBELLAR ATAXIA TYPE 40	423275 C4518336 MONDO:0014475	CCDC8	Unknown	25062847 30398676 33602173	Disgenet GWAS catalog
SPINOCEREBELLAR ATAXIA TYPE 41	458798 C4225158 MONDO:0014626	TRPC3	Causal	25477146 31475037 34183866	ClinVar Disgenet GWAS catalog Orphanet
SPINOCEREBELLAR ATAXIA TYPE 42	458803 C4225205 MONDO:0014776	CACNA1G	Causal	26456284 26715324 29878067 31229688	ClinVar Disgenet Orphanet

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Spinocerebellar ataxia