Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	MONDO:0015365	SCN11A	Unknown	24036948 24207120 26746779 27556810 28289907 28298626 30046661 30395542 32817686 32970203 9671787	Orphanet	Phase 0 - rapid depolarisation
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES	C0027889 MESH:D009477	DNMT1	Unknown	21532572	CTD, Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		FLVCR1	Unknown	—	Disgenet	Heme biosynthesis Iron uptake and transport
		KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		NGF	Unknown	—	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		NTRK1	Unknown	—	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
		PRDM12	Unknown	—	Disgenet	—
		RETREG1	Unknown	19838196	CTD, Disgenet	—
		WNK1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	MONDO:0015364	NGF	Unknown	14976160 20978020 27997532 30296891 31685654 33884296 8137419	ClinGen, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		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	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		ATL1	Unknown	21194679	GWAS catalog, Orphanet	—
		ATL3	Unknown	24459106	GWAS catalog, Orphanet	—
		SPTLC2	Unknown	20920666	Orphanet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2	970 MONDO:0019941	RETREG1	Causal	21089229	ClinVar, Disgenet, Orphanet	—
		KIF1A	Unknown	21089229	ClinVar, GWAS catalog, Orphanet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		SCN9A	Unknown	23596073	ClinVar, HPO, Orphanet	Taste transduction Phase 0 - rapid depolarisation
		WNK1	Unknown	21089229	ClinVar, GWAS catalog, Orphanet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4	642 MONDO:0009746	NTRK1	Unknown	10090906 10233776 10330344 10861667 10982191 19250380 20301726 8145823 8696348	ClinGen, Disgenet, Orphanet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5	64752 MONDO:0012092	NGF	Unknown	14976160 19038341 19945432 20978020 21387003 22302274	Disgenet, Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5	64752 MONDO:0012092	NTRK1	Unknown	11310631	Orphanet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
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	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7	391397 C3809882 MONDO:0014244	SCN11A	Causal	24036948	ClinVar, Disgenet, GWAS catalog, Orphanet	Phase 0 - rapid depolarisation
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 8	478664 C4225308	PRDM12	Unknown	26005867 26975306 28050684	Orphanet, Disgenet	—
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IE	C3279885	DNMT1	Unknown	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IE	C3279885	SHFL	Unknown	—	Disgenet	—
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE II	C5574675	KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		RETREG1	Unknown	—	Disgenet	—
		SCN9A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		WNK1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE IA	C5235211	SPTLC1	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE IC	C3150896	SPTLC2	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 1	C0020071	ATL1	Unknown	—	Disgenet	—
		ATL3	Unknown	—	Disgenet	—
		DNMT1	Unknown	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		NGF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		NTRK1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
		RETREG1	Unknown	—	Disgenet	—
		SPTLC1	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		SPTLC2	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		WNK1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 2	C0020072	DNMT1	Unknown	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		NGF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		NTRK1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
		RETREG1	Unknown	—	Disgenet	—
		SCN9A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		WNK1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 5	C0020075	DNMT1	Unknown	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		NGF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		NTRK1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
		RETREG1	Unknown	—	Disgenet	—
		SCN11A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		WNK1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1A	MONDO:0008086	SPTLC1	Causal	11242114 15037712 16210380 19132419 19651702 21618344 23454272 24604904 250360 251382 26681808 281200 282316 282892 30373780	CTD, ClinVar	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1C	MONDO:0013337	SPTLC2	Causal	20920666 23658386 25567748 26573920 29761896 30955194	ClinGen, ClinVar, GWAS catalog	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2A	MONDO:0024309	KIF1A	Causal	—	ClinVar	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		SCN9A	Causal	—	ClinVar	Taste transduction Phase 0 - rapid depolarisation
		WNK1	Causal	15060842 16534117 24389050	ClinGen, ClinVar, GWAS catalog	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
		RETREG1	Unknown	—	ClinVar	—
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2B	MONDO:0013142	RETREG1	Causal	19838196	ClinVar, GWAS catalog	—
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA	162400 OMIM:162400	SPTLC1	Unknown	—	CTD, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SEVERE	C5231533	SPTLC1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC	613640 OMIM:613640	SPTLC2	Unknown	—	CTD, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA	201300 C2752089 OMIM:201300	KIF1A	Unknown	—	CTD, Disgenet, HPO	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		RETREG1	Unknown	—	CTD, Disgenet, HPO	—
		SCN9A	Unknown	—	CTD, Disgenet, HPO	Taste transduction Phase 0 - rapid depolarisation
		WNK1	Unknown	—	CTD, Disgenet, HPO	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB	613115 C2751092 MESH:C567738	RETREG1	Unknown	24327336 21115472 19838196	CTD, Disgenet, HPO, ClinGen	—
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID	C4012054	SCN9A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III	223900	ELP1	Unknown	—	HPO	—
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY	615031 C3542549 OMIM:615031	TECPR2	Unknown	—	CTD, Disgenet, HPO	—
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V	608654	NGF	Unknown	—	HPO, ClinGen	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	614653 OMIM:614653	DST	Unknown	—	CTD, HPO	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	615548 OMIM:615548	SCN11A	Unknown	—	CTD, HPO	Phase 0 - rapid depolarisation
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII	616488 OMIM:616488	PRDM12	Unknown	26005867	CTD, HPO	—
NEUROPATHY, HEREDITARY SENSORY, TYPE 1D	MONDO:0013381	ATL1	Causal	11685207 12499504 14506257 19665976 20935645 21194679 22340599 24969372 28860117	ClinGen, ClinVar, GWAS catalog	—
NEUROPATHY, HEREDITARY SENSORY, TYPE 1F	MONDO:0014286	ATL3	Causal	24459106 24736309 29768202 30666337 30773365	ClinGen, ClinVar, GWAS catalog	—
NEUROPATHY, HEREDITARY SENSORY, TYPE 2C	MONDO:0013634	KIF1A	Causal	21820098 21487076 22258533 25585697 28017198 28332297	ClinVar, GWAS catalog	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
NEUROPATHY, HEREDITARY SENSORY, TYPE ID	613708 C3150972 OMIM:613708	ATL1	Unknown	—	CTD, Disgenet, HPO	—
NEUROPATHY, HEREDITARY SENSORY, TYPE IE	614116 OMIM:614116	DNMT1	Unknown	—	CTD, HPO	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
NEUROPATHY, HEREDITARY SENSORY, TYPE IF	615632 C3810194 OMIM:615632	ATL3	Unknown	—	CTD, Disgenet, HPO	—
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	614213 C3280168 OMIM:614213	KIF1A	Unknown	—	CTD, Disgenet, HPO	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	256840 C1850395 MESH:C564948	CCT5	Unknown	—	CTD, Disgenet, HPO	Association of TriC/CCT with target proteins during biosynthesis BBSome-mediated cargo-targeting to cilium Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Hereditary sensory and autonomic neuropathy

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