Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	MONDO:0015365	SCN11A	Unknown	24036948 24207120 26746779 27556810 28289907 28298626 30046661 30395542 32817686 32970203 9671787	Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES	C0027889 MESH:D009477	DNMT1	Unknown	21532572	CTD Disgenet
		FLVCR1	Unknown	—	Disgenet
		KIF1A	Unknown	—	Disgenet
		NGF	Unknown	—	CTD Disgenet
		NTRK1	Unknown	—	CTD Disgenet
		PRDM12	Unknown	—	Disgenet
		RETREG1	Unknown	19838196	CTD Disgenet
		WNK1	Unknown	—	Disgenet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	MONDO:0015364	NGF	Unknown	14976160 20978020 27997532 30296891 31685654 33884296 8137419	ClinGen Disgenet
		PRDM12	Unknown	25891934 26005867 28807049 31128170	Disgenet
		RETREG1	Unknown	19838196 21115472 26040720	ClinGen Disgenet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION	320385	TECPR2	Unknown	23176824	Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECTONIN BETA-PROPELLER REPEAT CONTAINING 2 MUTATION	C5190860	TECPR2	Unknown	—	Disgenet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1	36386 MONDO:0018213	SPTLC1	Causal	11242114	ClinVar GWAS catalog Orphanet
		ATL1	Unknown	21194679	GWAS catalog Orphanet
		ATL3	Unknown	24459106	GWAS catalog Orphanet
		SPTLC2	Unknown	20920666	Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2	970 MONDO:0019941	RETREG1	Causal	21089229	ClinVar Disgenet Orphanet
		KIF1A	Unknown	21089229	ClinVar GWAS catalog Orphanet
		SCN9A	Unknown	23596073	ClinVar HPO Orphanet
		WNK1	Unknown	21089229	ClinVar GWAS catalog Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4	642 MONDO:0009746	NTRK1	Unknown	10090906 10233776 10330344 10861667 10982191 19250380 20301726 8145823 8696348	ClinGen Disgenet Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5	64752 MONDO:0012092	NGF	Unknown	14976160 19038341 19945432 20978020 21387003 22302274	Disgenet Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5	64752 MONDO:0012092	NTRK1	Unknown	11310631	Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6	314381 C3539003 MONDO:0013839	DST	Causal	14581450 18638474 22522446 24381311 27693510 28468842 30371979 31633269 32802955 7736575 9242412	ClinGen ClinVar Disgenet GWAS catalog Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7	391397 C3809882 MONDO:0014244	SCN11A	Causal	24036948	ClinVar Disgenet GWAS catalog Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 8	478664 C4225308	PRDM12	Unknown	26005867 26975306 28050684	Orphanet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IE	C3279885	DNMT1	Unknown	—	Disgenet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IE	C3279885	SHFL	Unknown	—	Disgenet
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE II	C5574675	KIF1A	Unknown	—	Disgenet
		RETREG1	Unknown	—	Disgenet
		SCN9A	Unknown	—	Disgenet
		WNK1	Unknown	—	Disgenet
HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE IA	C5235211	SPTLC1	Unknown	—	Disgenet
HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE IC	C3150896	SPTLC2	Unknown	—	Disgenet
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 1	C0020071	ATL1	Unknown	—	Disgenet
		ATL3	Unknown	—	Disgenet
		DNMT1	Unknown	—	Disgenet
		KIF1A	Unknown	—	Disgenet
		NGF	Unknown	—	Disgenet
		NTRK1	Unknown	—	Disgenet
		RETREG1	Unknown	—	Disgenet
		SPTLC1	Unknown	—	Disgenet
		SPTLC2	Unknown	—	Disgenet
		WNK1	Unknown	—	Disgenet
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 2	C0020072	DNMT1	Unknown	—	Disgenet
		KIF1A	Unknown	—	Disgenet
		NGF	Unknown	—	Disgenet

Hereditary sensory and autonomic neuropathy