Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
AAAS	gene	AAAS	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME;AAAS						False	3	100;0;0	0.51	True		ENSG00000094914	ENSG00000094914	HGNC:13666													
DBH	gene	DBH	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 223360 ORTHOSTATIC HYPOTENSION 1;ORTHYP1				21209083;11857564		False	3	100;0;0	0.51	True		ENSG00000123454	ENSG00000123454	HGNC:2689													
DST	gene	DST	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI;HSAN6				30371979;28468842		False	3	100;0;0	0.51	True		ENSG00000151914	ENSG00000151914	HGNC:1090													
ELP1	gene	ELP1	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	Dysautonomia, familial, MIM# 223900;Riley-Day syndrome MONDO:0009131				11179008;11179021;17644305		False	3	100;0;0	0.51	True		ENSG00000070061	ENSG00000070061	HGNC:5959													
GMPPA	gene	GMPPA	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)						False	3	100;0;0	0.51	True		ENSG00000144591	ENSG00000144591	HGNC:22923													
LIFR	gene	LIFR	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 601559 STUVE-WIEDEMANN SYNDROME;STWS						False	3	0;0;0	0.51	True		ENSG00000113594	ENSG00000113594	HGNC:6597													
LMNB1	gene	LMNB1	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT;ADLD						False	3	100;0;0	0.51	True		ENSG00000113368	ENSG00000113368	HGNC:6637													
MADD	gene	MADD	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 619004 DEEAH SYNDROME;DEEAH						False	3	100;0;0	0.51	True		ENSG00000110514	ENSG00000110514	HGNC:6766													
NGF	gene	NGF	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V;HSAN5						False	3	100;0;0	0.51	False		ENSG00000134259	ENSG00000134259	HGNC:7808													
NTRK1	gene	NTRK1	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1;NTRK1						False	3	100;0;0	0.51	True		ENSG00000198400	ENSG00000198400	HGNC:8031													
PHOX2B	gene	PHOX2B	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL;CCHS						False	3	100;0;0	0.51	True		ENSG00000109132	ENSG00000109132	HGNC:9143													
PRDM12	gene	PRDM12	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488;MONDO:0014662				26005867;33789102;33010785;32828702		False	3	100;0;0	0.51	True		ENSG00000130711	ENSG00000130711	HGNC:13997													
RETREG1	gene	RETREG1	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115;MONDO:0013142				19838196;24327336;31737055;31596031		False	3	100;0;0	0.51	True		ENSG00000154153	ENSG00000154153	HGNC:25964													
SCN11A	gene	SCN11A	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII;HSAN7						False	3	100;0;0	0.51	True		ENSG00000168356	ENSG00000168356	HGNC:10583													
SCN9A	gene	SCN9A	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED;HSAN2D,				23596073		False	3	100;0;0	0.51	True		ENSG00000169432	ENSG00000169432	HGNC:10597													
SPTLC1	gene	SPTLC1	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	OMIM# 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA;HSAN1A						False	3	100;0;0	0.51	True		ENSG00000090054	ENSG00000090054	HGNC:11277													
SPTLC2	gene	SPTLC2	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	OMIM# 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC;HSAN1C						False	3	100;0;0	0.51	True		ENSG00000100596	ENSG00000100596	HGNC:11278													
WNK1	gene	WNK1	Expert Review Green;Literature	Autonomic neuropathy		Autonomic Neuropathy	BIALLELIC, autosomal or pseudoautosomal	# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA;HSAN2A						False	3	100;0;0	0.51	True		ENSG00000060237	ENSG00000060237	HGNC:14540