PMPCA (peptidase, mitochondrial processing subunit alpha)

Gene

• Entrez ID: 23203
• Gene name: Peptidase, mitochondrial processing subunit alpha
• Gene symbol: PMPCA
• Synonyms (NCBI Gene): Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2
• Disease Acronyms (UniProt): SCAR2
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143813417	G>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs573267388	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs746549806	G>A	Pathogenic	Missense variant, coding sequence variant
rs753611141	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs768643552	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs869025293	G>A	Pathogenic	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs963172852	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028878	hsa-miR-26b-5p	Microarray	19088304
MIRT051702	hsa-let-7e-5p	CLASH	23622248
MIRT038065	hsa-miR-423-5p	CLASH	23622248
MIRT722291	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT722290	hsa-miR-4768-3p	HITS-CLIP	19536157
MIRT722289	hsa-miR-4459	HITS-CLIP	19536157
MIRT722288	hsa-miR-4433a-3p	HITS-CLIP	19536157
MIRT722287	hsa-miR-6131	HITS-CLIP	19536157
MIRT722286	hsa-miR-6801-5p	HITS-CLIP	19536157
MIRT722285	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT722284	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671715	hsa-miR-363-5p	HITS-CLIP	23824327
MIRT671714	hsa-miR-6745	HITS-CLIP	23824327
MIRT671713	hsa-miR-6756-5p	HITS-CLIP	23824327
MIRT671712	hsa-miR-6766-5p	HITS-CLIP	23824327
MIRT671711	hsa-miR-1293	HITS-CLIP	23824327
MIRT671710	hsa-miR-4483	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671707	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT610474	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT550735	hsa-miR-302f	PAR-CLIP	20371350
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT563549	hsa-miR-3929	PAR-CLIP	20371350
MIRT563548	hsa-miR-4419b	PAR-CLIP	20371350
MIRT563547	hsa-miR-4478	PAR-CLIP	20371350
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT550730	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT550729	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT550728	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT550727	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT051702	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT550726	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT550725	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT550724	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT550722	hsa-miR-4458	PAR-CLIP	20371350
MIRT550723	hsa-miR-4500	PAR-CLIP	20371350
MIRT550721	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT550720	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT550719	hsa-miR-6134	PAR-CLIP	20371350
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT550717	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT550712	hsa-miR-1273e	PAR-CLIP	20371350
MIRT550711	hsa-miR-665	PAR-CLIP	20371350
MIRT550735	hsa-miR-302f	PAR-CLIP	21572407
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	21572407
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT550730	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550729	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550728	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550727	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT051702	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550726	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550725	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550724	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550722	hsa-miR-4458	PAR-CLIP	21572407
MIRT550723	hsa-miR-4500	PAR-CLIP	21572407
MIRT550721	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550720	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550719	hsa-miR-6134	PAR-CLIP	21572407
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT550717	hsa-miR-3689d	PAR-CLIP	21572407
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	21572407
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT550712	hsa-miR-1273e	PAR-CLIP	21572407
MIRT550711	hsa-miR-665	PAR-CLIP	21572407
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	27418678
MIRT671719	hsa-miR-149-3p	HITS-CLIP	27418678
MIRT671721	hsa-miR-24-3p	HITS-CLIP	27418678
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	27418678
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	27418678
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	27418678
MIRT671694	hsa-miR-3122	HITS-CLIP	27418678
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	27418678
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	27418678
MIRT671698	hsa-miR-3689c	HITS-CLIP	27418678
MIRT671726	hsa-miR-383-3p	HITS-CLIP	27418678
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	27418678
MIRT671722	hsa-miR-4284	HITS-CLIP	27418678
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	27418678
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	27418678
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	27418678
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	27418678
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	27418678
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	27418678
MIRT671707	hsa-miR-6748-5p	HITS-CLIP	27418678
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	27418678
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	27418678
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	27418678
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	27418678
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	27418678
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	27418678
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	27418678
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	27418678
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	27418678
MIRT671706	hsa-miR-7977	HITS-CLIP	27418678
MIRT671692	hsa-miR-887-5p	HITS-CLIP	27418678
MIRT722291	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT722290	hsa-miR-4768-3p	HITS-CLIP	19536157
MIRT722289	hsa-miR-4459	HITS-CLIP	19536157
MIRT722288	hsa-miR-4433a-3p	HITS-CLIP	19536157
MIRT722287	hsa-miR-6131	HITS-CLIP	19536157
MIRT722286	hsa-miR-6801-5p	HITS-CLIP	19536157
MIRT722285	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT722284	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671715	hsa-miR-363-5p	HITS-CLIP	23824327
MIRT671714	hsa-miR-6745	HITS-CLIP	23824327
MIRT671713	hsa-miR-6756-5p	HITS-CLIP	23824327
MIRT671712	hsa-miR-6766-5p	HITS-CLIP	23824327
MIRT671711	hsa-miR-1293	HITS-CLIP	23824327
MIRT671710	hsa-miR-4483	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671707	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT610474	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT550735	hsa-miR-302f	PAR-CLIP	20371350
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT563549	hsa-miR-3929	PAR-CLIP	20371350
MIRT563548	hsa-miR-4419b	PAR-CLIP	20371350
MIRT563547	hsa-miR-4478	PAR-CLIP	20371350
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT550730	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT550729	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT550728	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT550727	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT051702	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT550726	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT550725	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT550724	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT550722	hsa-miR-4458	PAR-CLIP	20371350
MIRT550723	hsa-miR-4500	PAR-CLIP	20371350
MIRT550721	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT550720	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT550719	hsa-miR-6134	PAR-CLIP	20371350
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT550717	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT550712	hsa-miR-1273e	PAR-CLIP	20371350
MIRT550711	hsa-miR-665	PAR-CLIP	20371350
MIRT550735	hsa-miR-302f	PAR-CLIP	21572407
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	21572407
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT550730	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550729	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550728	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550727	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT051702	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550726	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550725	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550724	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550722	hsa-miR-4458	PAR-CLIP	21572407
MIRT550723	hsa-miR-4500	PAR-CLIP	21572407
MIRT550721	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550720	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550719	hsa-miR-6134	PAR-CLIP	21572407
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT550717	hsa-miR-3689d	PAR-CLIP	21572407
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	21572407
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT550712	hsa-miR-1273e	PAR-CLIP	21572407
MIRT550711	hsa-miR-665	PAR-CLIP	21572407
MIRT1244616	hsa-miR-1976	CLIP-seq
MIRT1244617	hsa-miR-3121-5p	CLIP-seq
MIRT1244618	hsa-miR-370	CLIP-seq
MIRT1244619	hsa-miR-4257	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT1244621	hsa-miR-4279	CLIP-seq
MIRT2072338	hsa-miR-1273	CLIP-seq
MIRT2072339	hsa-miR-186	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT2072341	hsa-miR-556-3p	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT2596187	hsa-miR-1184	CLIP-seq
MIRT2072338	hsa-miR-1273	CLIP-seq
MIRT2596188	hsa-miR-1285	CLIP-seq
MIRT2596189	hsa-miR-1292	CLIP-seq
MIRT2596190	hsa-miR-1301	CLIP-seq
MIRT2596191	hsa-miR-1324	CLIP-seq
MIRT2596192	hsa-miR-1343	CLIP-seq
MIRT2596193	hsa-miR-151-3p	CLIP-seq
MIRT2072339	hsa-miR-186	CLIP-seq
MIRT2596194	hsa-miR-187	CLIP-seq
MIRT2596195	hsa-miR-193a-5p	CLIP-seq
MIRT2596196	hsa-miR-1972	CLIP-seq
MIRT2596197	hsa-miR-2115	CLIP-seq
MIRT2596198	hsa-miR-300	CLIP-seq
MIRT2596199	hsa-miR-3155	CLIP-seq
MIRT2596200	hsa-miR-3155b	CLIP-seq
MIRT2596201	hsa-miR-3187-5p	CLIP-seq
MIRT2596202	hsa-miR-323-5p	CLIP-seq
MIRT2596203	hsa-miR-3622a-3p	CLIP-seq
MIRT2596204	hsa-miR-3622b-3p	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT2596205	hsa-miR-381	CLIP-seq
MIRT2596206	hsa-miR-412	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT2596207	hsa-miR-4292	CLIP-seq
MIRT2596208	hsa-miR-4308	CLIP-seq
MIRT2596209	hsa-miR-4650-5p	CLIP-seq
MIRT2596210	hsa-miR-4660	CLIP-seq
MIRT2596211	hsa-miR-4666-3p	CLIP-seq
MIRT2596212	hsa-miR-4681	CLIP-seq
MIRT2596213	hsa-miR-4738-5p	CLIP-seq
MIRT2596214	hsa-miR-4789-5p	CLIP-seq
MIRT2596215	hsa-miR-4793-3p	CLIP-seq
MIRT2596216	hsa-miR-484	CLIP-seq
MIRT2596217	hsa-miR-5047	CLIP-seq
MIRT2596218	hsa-miR-507	CLIP-seq
MIRT2596219	hsa-miR-508-5p	CLIP-seq
MIRT2596220	hsa-miR-516a-3p	CLIP-seq
MIRT2596221	hsa-miR-557	CLIP-seq
MIRT2596222	hsa-miR-564	CLIP-seq
MIRT2596223	hsa-miR-612	CLIP-seq
MIRT2596224	hsa-miR-766	CLIP-seq
MIRT2596225	hsa-miR-939	CLIP-seq
MIRT2596187	hsa-miR-1184	CLIP-seq
MIRT2072338	hsa-miR-1273	CLIP-seq
MIRT2596188	hsa-miR-1285	CLIP-seq
MIRT2596189	hsa-miR-1292	CLIP-seq
MIRT2596190	hsa-miR-1301	CLIP-seq
MIRT2596191	hsa-miR-1324	CLIP-seq
MIRT2596192	hsa-miR-1343	CLIP-seq
MIRT2596193	hsa-miR-151-3p	CLIP-seq
MIRT2072339	hsa-miR-186	CLIP-seq
MIRT2596195	hsa-miR-193a-5p	CLIP-seq
MIRT2596196	hsa-miR-1972	CLIP-seq
MIRT2596197	hsa-miR-2115	CLIP-seq
MIRT2596198	hsa-miR-300	CLIP-seq
MIRT2596199	hsa-miR-3155	CLIP-seq
MIRT2596200	hsa-miR-3155b	CLIP-seq
MIRT2596201	hsa-miR-3187-5p	CLIP-seq
MIRT2596202	hsa-miR-323-5p	CLIP-seq
MIRT2596203	hsa-miR-3622a-3p	CLIP-seq
MIRT2596204	hsa-miR-3622b-3p	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT2596205	hsa-miR-381	CLIP-seq
MIRT2596206	hsa-miR-412	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT2596207	hsa-miR-4292	CLIP-seq
MIRT2596208	hsa-miR-4308	CLIP-seq
MIRT2596209	hsa-miR-4650-5p	CLIP-seq
MIRT2596210	hsa-miR-4660	CLIP-seq
MIRT2596211	hsa-miR-4666-3p	CLIP-seq
MIRT2596212	hsa-miR-4681	CLIP-seq
MIRT2596213	hsa-miR-4738-5p	CLIP-seq
MIRT2596214	hsa-miR-4789-5p	CLIP-seq
MIRT2596215	hsa-miR-4793-3p	CLIP-seq
MIRT2596216	hsa-miR-484	CLIP-seq
MIRT2596217	hsa-miR-5047	CLIP-seq
MIRT2596218	hsa-miR-507	CLIP-seq
MIRT2596219	hsa-miR-508-5p	CLIP-seq
MIRT2596220	hsa-miR-516a-3p	CLIP-seq
MIRT2596221	hsa-miR-557	CLIP-seq
MIRT2596222	hsa-miR-564	CLIP-seq
MIRT2596223	hsa-miR-612	CLIP-seq
MIRT2596224	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	IDA	25808372
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA	21873635
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IDA	22354088
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IMP	25808372
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 613036
• HGNC: 18667
• e!Ensembl: ENSG00000165688

Protein

• UniProt ID: Q10713
• Protein name: Mitochondrial-processing peptidase subunit alpha (Alpha-MPP) (Inactive zinc metalloprotease alpha) (P-55)
• Protein function: Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00675	Peptidase_M16	77 → 227	Insulinase (Peptidase family M16)	Family
  PF05193	Peptidase_M16_C	232 → 431	Peptidase M16 inactive domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis. {ECO:0000269|PubMed:25808372}.
• Sequence:

  MAAVVLAATRLLRGSGSWGCSRLRFGPPAYRRFSSGGAYPNIPLSSPLPGVPKPVFATVD
  GQEKFETKVTTLDNGLRVASQNKFGQFCTVGILINSGSRYEAKYLSGIAHFLEKLAFSST
  ARFDSKDEILLTLEKHGGICDCQTSRDTTMYAVSADSKGLDTVVALLADVVLQPRLTDEE
  VEMTRMAVQFELEDLNLRPDPEPLLTEMIHEAAYRENTVGLHRFCPTENVAKINREVLHS
  YLRNYYTPDRMVLAGVGVEHEHLVDCARKYLLGVQPAWGSAEAVDIDRSVAQYTGGIAKL
  ERDMSNVSLGPTPIPELTHIMVGLESCSFLEEDFIPFAVLNMMMGGGGSFSAGGPGKGMF
  SRLYLNVLNRHHWMYNATSYHHSYEDTGLLCIHASADPRQVREMVEIITKEFILMGGTVD
  TVELERAKTQLTSMLMMNLESRPVIFEDVGRQVLATRSRKLPHELCTLIRNVKPEDVKRV
  ASKMLRGKPAVAALGDLTDLPTYEHIQTALSSKDGRLPRTYRLFR

• Sequence length: 525

Pathways

Reactome:

Processing of SMDT1

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrocephalus	Hydrocephalus, Normal Pressure	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ocular albinism	Albinism, Ocular	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	10528257, 25808372, 30617178, 26657514

Unknown
Disease term	Disease name	Evidence	References	Source
Spinocerebellar Ataxia	autosomal recessive spinocerebellar ataxia 2			GenCC
Mitochondrial Diseases	mitochondrial disease			GenCC
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	36233161
Cerebellar Ataxia	Associate	25808372
Cerebellar Diseases	Associate	36233161
COVID 19	Associate	37643521
Epileptic Encephalopathy Early Infantile 3	Associate	35803560
Friedreich Ataxia	Associate	25808372
Leukodystrophy Metachromatic	Associate	35803560
Leukoencephalopathies	Associate	35803560
Malformations of Cortical Development	Associate	36233161
Mitochondrial Diseases	Associate	35885985
Optic Atrophy Autosomal Dominant	Associate	35885985
Spinocerebellar Ataxia Autosomal Recessive 2	Associate	35885985
Spinocerebellar Ataxia Autosomal Recessive 9	Associate	35885985
Syndrome	Associate	35803560