Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
PONTOCEREBELLAR HYPOPLASIA	MESH:C580383	TOE1	Unknown	28092684	CTD
PONTOCEREBELLAR HYPOPLASIA TYPE 1	2254 MONDO:0016396 MESH:C548069	AGTPBP1	Unknown	30976113	GWAS catalog Orphanet
		EXOSC3	Unknown	22544365 25144110	CTD Orphanet
		EXOSC8	Unknown	24989451	CTD Orphanet
		EXOSC9	Unknown	29727687	GWAS catalog Orphanet
		SLC25A46	Unknown	28637197	GenCC Orphanet
		VRK1	Unknown	19646678	CTD GWAS catalog Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 10	411493 MONDO:0014349	CLP1	Causal	24766809 24766810	ClinVar GenCC Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 1A	MONDO:0011866	VRK1	Causal	21937992 19646678	ClinVar GWAS catalog
PONTOCEREBELLAR HYPOPLASIA TYPE 1B	MONDO:0013853	EXOSC3	Causal	22544365 23284067 24524299 28687512 30025162 3264500	ClinVar Disgenet
PONTOCEREBELLAR HYPOPLASIA TYPE 2	2524 C2932714 MONDO:0016759	TSEN54	Causal	20301773	Disgenet GWAS catalog Orphanet
		SEPSECS	Unknown	20920667	CTD Disgenet Orphanet
		TSEN15	Unknown	27392077	CTD Disgenet Orphanet
		TSEN2	Unknown	23562994	Disgenet GWAS catalog Orphanet
		TSEN34	Unknown	18711368	Disgenet HPO Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 2A	C1848526 MESH:C564738 MONDO:0010190	TSEN54	Causal	—	CTD ClinVar Disgenet
PONTOCEREBELLAR HYPOPLASIA TYPE 2B	C2676466 MESH:C567325 MONDO:0012890	TSEN2	Causal	—	CTD ClinVar Disgenet GenCC
PONTOCEREBELLAR HYPOPLASIA TYPE 2C	C2676465 MESH:C567324 MONDO:0012891	TSEN34	Causal	—	CTD ClinVar Disgenet GenCC
PONTOCEREBELLAR HYPOPLASIA TYPE 2D	MONDO:0013438	SEPSECS	Causal	26888482 29464431 26805434	CTD ClinVar
PONTOCEREBELLAR HYPOPLASIA TYPE 2E	MONDO:0014370	VPS53	Causal	—	ClinVar
PONTOCEREBELLAR HYPOPLASIA TYPE 3	97249 C1842687 MESH:C548072 MONDO:0011948	PCLO	Causal	20332206 25832664 30287594	CTD ClinVar Disgenet GWAS catalog Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 4	166063 C1856974 MONDO:0009166	TSEN54	Causal	—	ClinVar Disgenet GenCC Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 5	MONDO:0012438	TSEN54	Causal	17641900 18711368 20952379 21273289 21368912 23307886	CTD ClinVar
PONTOCEREBELLAR HYPOPLASIA TYPE 6	166073 C1969084 MESH:C548074 MONDO:0012683	RARS2	Causal	34085948	CTD ClinVar Disgenet GWAS catalog Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 7	284339 MONDO:0013993	TOE1	Causal	28092684	ClinVar Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 7	284339 MONDO:0013993	MINPP1	Unknown	33168985	GenCC Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 8	324569 MONDO:0013990	CHMP1A	Causal	23023333	ClinVar Disgenet Orphanet
PONTOCEREBELLAR HYPOPLASIA TYPE 9	369920 MONDO:0014351	AMPD2	Causal	23911318	ClinVar GenCC Orphanet
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL	618810 C5394137 MONDO:0032931	ATAD3A	Causal	—	ClinVar Disgenet GenCC HPO
	618810 C5394137 MONDO:0032931	ATAD3C	Unknown	28549128 30143558 32004445	Disgenet GWAS catalog
PONTOCEREBELLAR HYPOPLASIA, IIA 17	MONDO:0030890	PRDM13	Causal	—	ClinVar GenCC
PONTOCEREBELLAR HYPOPLASIA, TYPE 10	615803 OMIM:615803	CLP1	Unknown	—	CTD HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695 C4540164 MONDO:0054669	TBC1D23	Causal	28823706 28823707	ClinVar Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 12	618266 C4748873 MONDO:0032643	COASY	Causal	30089828 35499143	CTD ClinVar Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 13	618606 C5231425 MONDO:0032831	VPS51	Causal	—	ClinVar Disgenet GenCC HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 13	618606 C5231425 MONDO:0032831	VPS53	Unknown	18511934 201512 24577744 277470 28567303 29760218 30100179 31418091 32209057	Disgenet GWAS catalog
PONTOCEREBELLAR HYPOPLASIA, TYPE 14	619301 C5543322 MONDO:0030258	PPIL1	Causal	33220177	ClinVar Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 15	619302 C5543326 MONDO:0030259	CDC40	Causal	33220177	CTD ClinVar Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 16	619527 C5561987 MONDO:0030438	MINPP1	Causal	33257696	ClinVar Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 17	619909 C5676999	PRDM13	Unknown	—	Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	C1843504 607596	CHMP1A	Unknown	—	Disgenet
		EXOSC3	Unknown	—	Disgenet
		VRK1	Unknown	—	Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B	614678 C3553449 OMIM:614678	EXOSC3	Unknown	—	CTD Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B	614678 C3553449 OMIM:614678	VRK1	Unknown	—	Disgenet
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	616081 C4015160 MONDO:0014485 OMIM:616081	EXOSC8	Causal	38017281 24989451 34210538	CTD ClinVar Disgenet HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065 C4748058 MONDO:0054844	EXOSC9	Causal	29727687 33040083	ClinVar Disgenet GWAS catalog HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 1E	619303 C5543328 MONDO:0030260	SLC25A46	Causal	27543974 28653766	ClinVar Disgenet GWAS catalog HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 1F	619304 C5543331 MONDO:0030261	EXOSC1	Causal	33463720 37024942	ClinVar Disgenet GenCC HPO
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A	277470	TSEN54	Unknown	—	HPO

Pontocerebellar hypoplasia