Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5376
Gene name	Peripheral myelin protein 22
Gene symbol	PMP22
Synonyms (NCBI Gene)	CIDPCMT1ACMT1EDSSGAS-3GAS3HMSNIAHNPPSp110
Chromosome	17
Chromosome location	17p12
Summary	This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Mari

Show/Hide all (44)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11545341	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs28936682	G>A,C,T	Pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant, missense variant
rs80338763	C>-,CC	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant
rs104894617	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894618	G>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894619	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs104894620	A>C,G,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs104894621	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs104894622	G>T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs104894623	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894624	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs104894625	G>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs104894626	A>G	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs104894627	T>A	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs368908933	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs377467465	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs587776691	TC>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, intron variant
rs775019409	G>A,T	Pathogenic, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs786204064	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205087	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786205111	TGTAGATGGCCG>-	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion
rs797044846	C>G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs863225027	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863225028	G>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs863225029	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs864622180	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs864622678	CC>A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878853113	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879253954	C>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs906563423	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs1426969421	C>A,T	Uncertain-significance, likely-pathogenic	Intron variant, splice donor variant
rs1555564032	G>C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1555564050	G>C	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555565276	A>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555565283	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555568475	C>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1567698872	G>-,GG	Uncertain-significance, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1567704621	G>A	Uncertain-significance, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567704791	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567719258	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1597597527	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1597597900	C>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1597635528	C>A	Likely-pathogenic	Intron variant
rs1597635540	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

152

Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023386	hsa-miR-122-5p	Microarray	17612493
MIRT029747	hsa-miR-26b-5p	Microarray	19088304
MIRT470801	hsa-miR-299-3p	PAR-CLIP	23592263
MIRT470800	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT470799	hsa-miR-4493	PAR-CLIP	23592263
MIRT470798	hsa-miR-4765	PAR-CLIP	23592263
MIRT470797	hsa-miR-4648	PAR-CLIP	23592263
MIRT470796	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT470794	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT470795	hsa-miR-4654	PAR-CLIP	23592263
MIRT470793	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT470792	hsa-miR-6126	PAR-CLIP	23592263
MIRT735445	hsa-miR-139-5p	Luciferase reporter assayqRT-PCR	32174796
MIRT737369	hsa-miR-767-5p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	32333091
MIRT470801	hsa-miR-299-3p	PAR-CLIP	23592263
MIRT470800	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT470799	hsa-miR-4493	PAR-CLIP	23592263
MIRT470798	hsa-miR-4765	PAR-CLIP	23592263
MIRT470797	hsa-miR-4648	PAR-CLIP	23592263
MIRT470796	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT470794	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT470795	hsa-miR-4654	PAR-CLIP	23592263
MIRT470793	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT470792	hsa-miR-6126	PAR-CLIP	23592263
MIRT1244486	hsa-miR-1202	CLIP-seq
MIRT1244487	hsa-miR-1265	CLIP-seq
MIRT1244488	hsa-miR-129-5p	CLIP-seq
MIRT1244489	hsa-miR-1324	CLIP-seq
MIRT1244490	hsa-miR-1910	CLIP-seq
MIRT1244491	hsa-miR-300	CLIP-seq
MIRT1244492	hsa-miR-3064-3p	CLIP-seq
MIRT1244493	hsa-miR-3189-3p	CLIP-seq
MIRT1244494	hsa-miR-340	CLIP-seq
MIRT1244495	hsa-miR-3612	CLIP-seq
MIRT1244496	hsa-miR-3676	CLIP-seq
MIRT1244497	hsa-miR-3682-5p	CLIP-seq
MIRT1244498	hsa-miR-381	CLIP-seq
MIRT1244499	hsa-miR-3914	CLIP-seq
MIRT1244500	hsa-miR-3929	CLIP-seq
MIRT1244501	hsa-miR-3941	CLIP-seq
MIRT1244502	hsa-miR-3972	CLIP-seq
MIRT1244503	hsa-miR-4317	CLIP-seq
MIRT1244504	hsa-miR-432	CLIP-seq
MIRT1244505	hsa-miR-4419b	CLIP-seq
MIRT1244506	hsa-miR-4443	CLIP-seq
MIRT1244507	hsa-miR-4477b	CLIP-seq
MIRT1244508	hsa-miR-4478	CLIP-seq
MIRT1244509	hsa-miR-4495	CLIP-seq
MIRT1244510	hsa-miR-450b-5p	CLIP-seq
MIRT1244511	hsa-miR-466	CLIP-seq
MIRT1244512	hsa-miR-4672	CLIP-seq
MIRT1244513	hsa-miR-4708-3p	CLIP-seq
MIRT1244514	hsa-miR-4729	CLIP-seq
MIRT1244515	hsa-miR-4746-5p	CLIP-seq
MIRT1244516	hsa-miR-4773	CLIP-seq
MIRT1244517	hsa-miR-4798-3p	CLIP-seq
MIRT1244518	hsa-miR-4803	CLIP-seq
MIRT1244519	hsa-miR-485-5p	CLIP-seq
MIRT1244520	hsa-miR-505	CLIP-seq
MIRT1244521	hsa-miR-507	CLIP-seq
MIRT1244522	hsa-miR-557	CLIP-seq
MIRT1244523	hsa-miR-561	CLIP-seq
MIRT1244524	hsa-miR-616	CLIP-seq
MIRT1244525	hsa-miR-650	CLIP-seq
MIRT1244526	hsa-miR-656	CLIP-seq
MIRT1244486	hsa-miR-1202	CLIP-seq
MIRT1244489	hsa-miR-1324	CLIP-seq
MIRT1244527	hsa-miR-15a	CLIP-seq
MIRT1244528	hsa-miR-15b	CLIP-seq
MIRT1244529	hsa-miR-16	CLIP-seq
MIRT1244490	hsa-miR-1910	CLIP-seq
MIRT1244530	hsa-miR-195	CLIP-seq
MIRT1244531	hsa-miR-29a	CLIP-seq
MIRT1244532	hsa-miR-29b	CLIP-seq
MIRT1244533	hsa-miR-29c	CLIP-seq
MIRT1244491	hsa-miR-300	CLIP-seq
MIRT1244534	hsa-miR-3154	CLIP-seq
MIRT1244493	hsa-miR-3189-3p	CLIP-seq
MIRT1244495	hsa-miR-3612	CLIP-seq
MIRT1244497	hsa-miR-3682-5p	CLIP-seq
MIRT1244498	hsa-miR-381	CLIP-seq
MIRT1244500	hsa-miR-3929	CLIP-seq
MIRT1244502	hsa-miR-3972	CLIP-seq
MIRT1244535	hsa-miR-424	CLIP-seq
MIRT1244503	hsa-miR-4317	CLIP-seq
MIRT1244504	hsa-miR-432	CLIP-seq
MIRT1244505	hsa-miR-4419b	CLIP-seq
MIRT1244536	hsa-miR-4420	CLIP-seq
MIRT1244506	hsa-miR-4443	CLIP-seq
MIRT1244507	hsa-miR-4477b	CLIP-seq
MIRT1244508	hsa-miR-4478	CLIP-seq
MIRT1244537	hsa-miR-4524	CLIP-seq
MIRT1244538	hsa-miR-4528	CLIP-seq
MIRT1244539	hsa-miR-4699-3p	CLIP-seq
MIRT1244516	hsa-miR-4773	CLIP-seq
MIRT1244540	hsa-miR-4790-3p	CLIP-seq
MIRT1244519	hsa-miR-485-5p	CLIP-seq
MIRT1244541	hsa-miR-497	CLIP-seq
MIRT1244542	hsa-miR-503	CLIP-seq
MIRT1244543	hsa-miR-548u	CLIP-seq
MIRT1244523	hsa-miR-561	CLIP-seq
MIRT1244544	hsa-miR-582-5p	CLIP-seq
MIRT1244545	hsa-miR-605	CLIP-seq
MIRT1244546	hsa-miR-607	CLIP-seq
MIRT1244524	hsa-miR-616	CLIP-seq
MIRT1244547	hsa-miR-646	CLIP-seq
MIRT1244525	hsa-miR-650	CLIP-seq
MIRT1244548	hsa-miR-668	CLIP-seq
MIRT1244549	hsa-miR-1267	CLIP-seq
MIRT1244550	hsa-miR-2355-3p	CLIP-seq
MIRT1244551	hsa-miR-3181	CLIP-seq
MIRT1244552	hsa-miR-320a	CLIP-seq
MIRT1244553	hsa-miR-320b	CLIP-seq
MIRT1244554	hsa-miR-320c	CLIP-seq
MIRT1244555	hsa-miR-320d	CLIP-seq
MIRT1244556	hsa-miR-377	CLIP-seq
MIRT1244557	hsa-miR-3944-3p	CLIP-seq
MIRT1244558	hsa-miR-4257	CLIP-seq
MIRT1244559	hsa-miR-4429	CLIP-seq
MIRT1244560	hsa-miR-4646-3p	CLIP-seq
MIRT1244561	hsa-miR-4652-3p	CLIP-seq
MIRT1244562	hsa-miR-4687-3p	CLIP-seq
MIRT1244563	hsa-miR-4750	CLIP-seq
MIRT1244564	hsa-miR-885-3p	CLIP-seq
MIRT1244565	hsa-miR-933	CLIP-seq
MIRT1244518	hsa-miR-4803	CLIP-seq
MIRT1244520	hsa-miR-505	CLIP-seq
MIRT2072321	hsa-miR-204	CLIP-seq
MIRT2072322	hsa-miR-211	CLIP-seq
MIRT2072323	hsa-miR-3667-3p	CLIP-seq
MIRT2072324	hsa-miR-4287	CLIP-seq
MIRT2072325	hsa-miR-4446-5p	CLIP-seq
MIRT2072326	hsa-miR-4685-3p	CLIP-seq
MIRT2072327	hsa-miR-4691-5p	CLIP-seq
MIRT2072328	hsa-miR-4755-5p	CLIP-seq
MIRT2072329	hsa-miR-623	CLIP-seq
MIRT1244489	hsa-miR-1324	CLIP-seq
MIRT2072330	hsa-miR-145	CLIP-seq
MIRT1244490	hsa-miR-1910	CLIP-seq
MIRT1244494	hsa-miR-340	CLIP-seq
MIRT1244536	hsa-miR-4420	CLIP-seq
MIRT1244509	hsa-miR-4495	CLIP-seq
MIRT1244523	hsa-miR-561	CLIP-seq
MIRT1244548	hsa-miR-668	CLIP-seq
MIRT1244494	hsa-miR-340	CLIP-seq
MIRT2596182	hsa-miR-3145-5p	CLIP-seq
MIRT1244536	hsa-miR-4420	CLIP-seq
MIRT1244514	hsa-miR-4729	CLIP-seq
MIRT2596183	hsa-miR-4760-5p	CLIP-seq
MIRT2596184	hsa-miR-508-5p	CLIP-seq
MIRT2596185	hsa-miR-576-3p	CLIP-seq
MIRT1244548	hsa-miR-668	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
CNOT7	Unknown	15937477
CNOT8	Unknown	15937477
SOX10	Unknown	11734543

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12107182, 14709540, 25416956, 25910212, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12107182
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005923	Component	Bicellular tight junction	IEA
GO:0006915	Process	Apoptotic process	IDA	12107182
GO:0007268	Process	Chemical synaptic transmission	TAS	8275092
GO:0007399	Process	Nervous system development	IEA
GO:0007422	Process	Peripheral nervous system development	TAS	8275092
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032060	Process	Bleb assembly	IDA	12107182
GO:0032288	Process	Myelin assembly	IBA
GO:0042552	Process	Myelination	IEA
GO:0043218	Component	Compact myelin	IEA
GO:0045202	Component	Synapse	IEA

MIM	HGNC	e!Ensembl
601097	9118	ENSG00000109099

Q01453

Protein name

Peripheral myelin protein 22 (PMP-22) (Growth arrest-specific protein 3) (GAS-3)

Protein function

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00822	PMP22_Claudin	1 → 153	PMP-22/EMP/MP20/Claudin family	Family

Sequence

MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNE
WLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVR
HPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE

Sequence length

160

Interactions

View interactions

	Reactome
			EGR2 and SOX10-mediated initiation of Schwann cell myelination

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive Dejerine-Sottas syndrome	Likely pathogenic; Pathogenic	rs28936682	RCV000008957	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs863225028, rs864622180, rs80338763, rs28936682, rs906563423, rs1567698872, rs1567704621, rs1597597534, rs1555564040, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs104894620, rs1597608203 View all (7 more)	RCV001173911 RCV000790152 RCV001173918 RCV001173916 RCV000790158 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1E	Likely pathogenic; Pathogenic	rs104894623, rs104894626, rs28936682, rs2508077437, rs80338763, rs879253954, rs1567704791, rs1555564040	RCV000008951 RCV000023072 RCV000193053 RCV003340715 RCV000755044 RCV000499331 RCV005863247 RCV003483723 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2E	Likely pathogenic; Pathogenic	rs80338763	RCV000033899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths	Pathogenic	rs104894627	RCV000008955	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, type I	Likely pathogenic; Pathogenic	rs1906263385, rs104894618, rs2150676904, rs1426969421, rs104894621, rs1482355069, rs1597607514, rs906563423, rs2508226636, rs104894622, rs2508227063, rs863225029, rs863225028, rs863225027, rs864622678 View all (33 more)	RCV001351428 RCV001385499 RCV001912639 RCV001958923 RCV002000141 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, type IA	Likely pathogenic; Pathogenic	rs906563423, rs863225029, rs863225027, rs104894617, rs104894618, rs104894620, rs104894621, rs80338763, rs104894625, rs879253954, rs1555564032, rs1567704791, rs1555564040, rs1909248652	RCV005409841 RCV000201019 RCV000201185 RCV000008940 RCV000008941 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dejerine-Sottas disease	Likely pathogenic; Pathogenic	rs2150710219, rs775019409, rs104894622, rs879253954, rs104894624, rs1597607651, rs863225027, rs104894621, rs1597608086	RCV002251247 RCV000790160 RCV000790177 RCV000790159 RCV005252892 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	Pathogenic; Likely pathogenic	rs104894620, rs104894621, rs104894622, rs786205087	RCV000008947 RCV000008948 RCV000008949 RCV000008953	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary liability to pressure palsies	Likely pathogenic; Pathogenic	rs80338763, rs28936682, rs104894625, rs1555568475, rs1567704791, rs1555564040, rs1597597678, rs1597635528	RCV000008952 RCV001332355 RCV000008958 RCV005870719 RCV005863247 RCV003483723 RCV000790004 RCV000989757 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral neuropathy	Likely pathogenic	rs2150710134	RCV001541901	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMP22-related disorder	Pathogenic; Likely pathogenic	rs104894621, rs1597597900, rs1597608203	RCV005867733 RCV004539515 RCV005870870	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Likely pathogenic; Pathogenic	rs863225029, rs104894622	RCV001198269 RCV001195890	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (36)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 1A	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 3	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type 1a, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMYELINATING DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSIES, MYOCLONIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND MOTOR NEUROPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCLONIC EPILEPSY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARESTHESIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory distress	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasticity	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOMACULOUS NEUROPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tongue fasciculations	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agammaglobulinemia	Agammaglobulinemia	Pubtator	16648851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27832451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35653238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	GWASCAT_DG	28779025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	28779025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	26956414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	28825155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29920932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	16648851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	16648851, 22621957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	LHGDN	16648851, 17510920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic veno-occlusive disease-immunodeficiency syndrome	Hepatic Venoocclusive Disease With Immunodeficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic venoocclusive disease with immunodeficiency	Hepatic Venoocclusive Disease With Immunodeficiency	ORPHANET_DG	16648851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic venoocclusive disease with immunodeficiency	Hepatic Venoocclusive Disease With Immunodeficiency	GENOMICS_ENGLAND_DG	16648851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic venoocclusive disease with immunodeficiency	Hepatic Venoocclusive Disease With Immunodeficiency	CLINVAR_DG	16648851, 22621957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic venoocclusive disease with immunodeficiency	Hepatic Venoocclusive Disease With Immunodeficiency	BEFREE	17510920, 28825155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic venoocclusive disease with immunodeficiency	Hepatic veno occlusive disease with immunodeficiency	Pubtator	28825155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic venoocclusive disease with immunodeficiency	Hepatic Venoocclusive Disease With Immunodeficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	35653238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22621957, 23448538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10913195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	28825155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27832451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	22982295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	26956414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PMP22 (peripheral myelin protein 22)