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encyclopedia of Rare Disease Annotation for Precision Medicine

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	hereditary sensory neuropathy

Disease ID	1716
Disease	hereditary sensory neuropathy
Definition	group of peripheral nervous system hereditary disorders with varying course, symptoms, neuropathology, and genetics, but characterized by degeneration of peripheral nerves, and clinically by loss of sensation.
Synonym	acroosteolyses, neurogenic acroosteolysis, neurogenic congenital sensory neuropathies congenital sensory neuropathy hered sensory neuropathy hereditary sensory neuropathies hereditary sensory neuropathy (disorder) hereditary sensory neuropathy, nos neurogenic acroosteolyses neurogenic acroosteolysis neuropathies, congenital sensory neuropathies, hereditary sensory neuropathy, congenital sensory neuropathy, congenital, sensory neuropathy, hereditary sensory posterior sensory radicular neuropathy sensory neuropathies, congenital sensory neuropathies, hereditary sensory neuropathy, congenital sensory neuropathy, hereditary
Orphanet	ORPHANET:970
OMIM	OMIM:201300
DOID	DOID:0050548
UMLS	C0699739
SNOMED-CT	SNOMEDCT_US_2016_09_01:11442006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0497327 \| dementia \| 3
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 4803 \| NGF \| GHR 6335 \| SCN9A \| GHR 8518 \| IKBKAP \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 10881 \| ACTL7A \| 3.308 \| DISEASES 10880 \| ACTL7B \| 3.063 \| DISEASES 10121 \| ACTR1A \| 3.093 \| DISEASES 51062 \| ATL1 \| 2.924 \| DISEASES 25923 \| ATL3 \| 4.115 \| DISEASES 627 \| BDNF \| 2.729 \| DISEASES 10575 \| CCT4 \| 3.263 \| DISEASES 10370 \| CITED2 \| 1.433 \| DISEASES 8218 \| CLTCL1 \| 2.316 \| DISEASES 8727 \| CTNNAL1 \| 2.573 \| DISEASES 5476 \| CTSA \| 1.566 \| DISEASES 57703 \| CWC22 \| 1.174 \| DISEASES 9547 \| CXCL14 \| 1.001 \| DISEASES 1621 \| DBH \| 3.076 \| DISEASES 1639 \| DCTN1 \| 2.47 \| DISEASES 3300 \| DNAJB2 \| 2.4 \| DISEASES 1786 \| DNMT1 \| 3.074 \| DISEASES 1798 \| DPAGT1 \| 1.032 \| DISEASES 1778 \| DYNC1H1 \| 2.817 \| DISEASES 55250 \| ELP2 \| 2.66 \| DISEASES 2643 \| GCH1 \| 1.634 \| DISEASES 10013 \| HDAC6 \| 1.614 \| DISEASES 3181 \| HNRNPA2B1 \| 1.001 \| DISEASES 60495 \| HPSE2 \| 1.242 \| DISEASES 8518 \| IKBKAP \| 6.667 \| DISEASES 9118 \| INA \| 1.702 \| DISEASES 387755 \| INSC \| 1.64 \| DISEASES 56704 \| JPH1 \| 2.049 \| DISEASES 547 \| KIF1A \| 3.178 \| DISEASES 3798 \| KIF5A \| 1.582 \| DISEASES 9516 \| LITAF \| 1.576 \| DISEASES 4128 \| MAOA \| 1.78 \| DISEASES 4214 \| MAP3K1 \| 1.131 \| DISEASES 4157 \| MC1R \| 1.529 \| DISEASES 4644 \| MYO5A \| 2.11 \| DISEASES 4692 \| NDN \| 1.253 \| DISEASES 4803 \| NGF \| 5.457 \| DISEASES 4814 \| NINJ1 \| 3.636 \| DISEASES 4857 \| NOVA1 \| 2.114 \| DISEASES 594857 \| NPS \| 1.768 \| DISEASES 4914 \| NTRK1 \| 6.274 \| DISEASES 4916 \| NTRK3 \| 1.561 \| DISEASES 94233 \| OPN4 \| 2.206 \| DISEASES 5313 \| PKLR \| 1.462 \| DISEASES 5457 \| POU4F1 \| 1.397 \| DISEASES 221662 \| RBM24 \| 3.205 \| DISEASES 65055 \| REEP1 \| 1.815 \| DISEASES 6336 \| SCN10A \| 2.553 \| DISEASES 6334 \| SCN8A \| 2.13 \| DISEASES 6335 \| SCN9A \| 5.629 \| DISEASES 6560 \| SLC12A4 \| 2.436 \| DISEASES 55304 \| SPTLC3 \| 3.691 \| DISEASES 165679 \| SPTSSB \| 2.922 \| DISEASES 6428 \| SRSF3 \| 1.823 \| DISEASES 8428 \| STK24 \| 1.242 \| DISEASES 27347 \| STK39 \| 1.309 \| DISEASES 11075 \| STMN2 \| 1.905 \| DISEASES 6863 \| TAC1 \| 2.661 \| DISEASES 51347 \| TAOK3 \| 2.983 \| DISEASES 9895 \| TECPR2 \| 2.784 \| DISEASES 23731 \| TMEM245 \| 3.545 \| DISEASES 51592 \| TRIM33 \| 2.265 \| DISEASES 79054 \| TRPM8 \| 1.153 \| DISEASES 7442 \| TRPV1 \| 2.409 \| DISEASES 51393 \| TRPV2 \| 1.385 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1716
Disease	hereditary sensory neuropathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000726 \| Dementia \| 3 HP:0012531 \| Pain \| 1 HP:0000975 \| Increased sweating \| 1 HP:0001257 \| Spasticity \| 1

Disease ID	1716
Disease	hereditary sensory neuropathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0086815 \| plantar ulcers
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1716
Disease	hereditary sensory neuropathy
Case	(Waiting for update.)

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