SBF1 (SET binding factor 1)

Gene

• Entrez ID: 6305
• Gene name: SET binding factor 1
• Gene symbol: SBF1
• Synonyms (NCBI Gene): CMT4B3, DENND7A, MTMR5
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs182956712	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200488568	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs201399007	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201985055	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs202049257	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374299843	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377428323	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs377462059	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587776986	T>C	Pathogenic	Coding sequence variant, missense variant
rs690016543	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1009209509	C>T	Likely-pathogenic	Splice donor variant
rs1057519117	C>A	Likely-pathogenic	Splice acceptor variant
rs1404020990	A>C	Pathogenic	Coding sequence variant, missense variant
rs1569512576	CC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569513495	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1603430221	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051209	hsa-miR-16-5p	CLASH	23622248
MIRT048226	hsa-miR-196a-5p	CLASH	23622248
MIRT046284	hsa-miR-23b-3p	CLASH	23622248
MIRT045439	hsa-miR-149-5p	CLASH	23622248
MIRT044578	hsa-miR-320a	CLASH	23622248
MIRT042986	hsa-miR-324-3p	CLASH	23622248
MIRT042710	hsa-miR-346	CLASH	23622248
MIRT041127	hsa-miR-503-5p	CLASH	23622248
MIRT038372	hsa-miR-296-3p	CLASH	23622248
MIRT037625	hsa-miR-744-5p	CLASH	23622248
MIRT037199	hsa-miR-877-3p	CLASH	23622248
MIRT726655	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT726654	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT726653	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT726651	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT726652	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT037625	hsa-miR-744-5p	PAR-CLIP	26701625
MIRT037625	hsa-miR-744-5p	PAR-CLIP	26701625
MIRT1326731	hsa-miR-1184	CLIP-seq
MIRT1326732	hsa-miR-1226	CLIP-seq
MIRT1326733	hsa-miR-1275	CLIP-seq
MIRT1326734	hsa-miR-128	CLIP-seq
MIRT1326735	hsa-miR-1291	CLIP-seq
MIRT1326736	hsa-miR-1301	CLIP-seq
MIRT1326737	hsa-miR-140-5p	CLIP-seq
MIRT1326738	hsa-miR-1538	CLIP-seq
MIRT1326739	hsa-miR-1908	CLIP-seq
MIRT1326740	hsa-miR-1913	CLIP-seq
MIRT1326741	hsa-miR-200b	CLIP-seq
MIRT1326742	hsa-miR-200c	CLIP-seq
MIRT1326743	hsa-miR-2113	CLIP-seq
MIRT1326744	hsa-miR-2117	CLIP-seq
MIRT1326745	hsa-miR-3064-5p	CLIP-seq
MIRT1326746	hsa-miR-3065-3p	CLIP-seq
MIRT1326747	hsa-miR-30a	CLIP-seq
MIRT1326748	hsa-miR-30b	CLIP-seq
MIRT1326749	hsa-miR-30c	CLIP-seq
MIRT1326750	hsa-miR-30d	CLIP-seq
MIRT1326751	hsa-miR-30e	CLIP-seq
MIRT1326752	hsa-miR-3121-5p	CLIP-seq
MIRT1326753	hsa-miR-3124-3p	CLIP-seq
MIRT1326754	hsa-miR-3154	CLIP-seq
MIRT1326755	hsa-miR-3173-5p	CLIP-seq
MIRT1326756	hsa-miR-3191	CLIP-seq
MIRT1326757	hsa-miR-338-3p	CLIP-seq
MIRT1326758	hsa-miR-3545-5p	CLIP-seq
MIRT1326759	hsa-miR-3607-3p	CLIP-seq
MIRT1326760	hsa-miR-3619-3p	CLIP-seq
MIRT1326761	hsa-miR-3652	CLIP-seq
MIRT1326762	hsa-miR-3692	CLIP-seq
MIRT1326763	hsa-miR-4265	CLIP-seq
MIRT1326764	hsa-miR-4279	CLIP-seq
MIRT1326765	hsa-miR-429	CLIP-seq
MIRT1326766	hsa-miR-4296	CLIP-seq
MIRT1326767	hsa-miR-4322	CLIP-seq
MIRT1326768	hsa-miR-4430	CLIP-seq
MIRT1326769	hsa-miR-4438	CLIP-seq
MIRT1326770	hsa-miR-4460	CLIP-seq
MIRT1326771	hsa-miR-4505	CLIP-seq
MIRT1326772	hsa-miR-4508	CLIP-seq
MIRT1326773	hsa-miR-4522	CLIP-seq
MIRT1326774	hsa-miR-4530	CLIP-seq
MIRT1326775	hsa-miR-4533	CLIP-seq
MIRT1326776	hsa-miR-4651	CLIP-seq
MIRT1326777	hsa-miR-4665-5p	CLIP-seq
MIRT1326778	hsa-miR-4684-5p	CLIP-seq
MIRT1326779	hsa-miR-4691-5p	CLIP-seq
MIRT1326780	hsa-miR-4699-3p	CLIP-seq
MIRT1326781	hsa-miR-4707-5p	CLIP-seq
MIRT1326782	hsa-miR-4711-5p	CLIP-seq
MIRT1326783	hsa-miR-4733-3p	CLIP-seq
MIRT1326784	hsa-miR-4743	CLIP-seq
MIRT1326785	hsa-miR-4745-3p	CLIP-seq
MIRT1326786	hsa-miR-4749-3p	CLIP-seq
MIRT1326787	hsa-miR-4776-5p	CLIP-seq
MIRT1326788	hsa-miR-4777-5p	CLIP-seq
MIRT1326789	hsa-miR-4796-5p	CLIP-seq
MIRT1326790	hsa-miR-499-3p	CLIP-seq
MIRT1326791	hsa-miR-499a-3p	CLIP-seq
MIRT1326792	hsa-miR-5047	CLIP-seq
MIRT1326793	hsa-miR-5095	CLIP-seq
MIRT1326794	hsa-miR-518d-5p	CLIP-seq
MIRT1326795	hsa-miR-519b-5p	CLIP-seq
MIRT1326796	hsa-miR-519c-5p	CLIP-seq
MIRT1326797	hsa-miR-520c-5p	CLIP-seq
MIRT1326798	hsa-miR-526a	CLIP-seq
MIRT1326799	hsa-miR-608	CLIP-seq
MIRT1326800	hsa-miR-634	CLIP-seq
MIRT1326801	hsa-miR-663	CLIP-seq
MIRT1326802	hsa-miR-744	CLIP-seq
MIRT1326803	hsa-miR-766	CLIP-seq
MIRT1326731	hsa-miR-1184	CLIP-seq
MIRT1326735	hsa-miR-1291	CLIP-seq
MIRT2097003	hsa-miR-1915	CLIP-seq
MIRT1326741	hsa-miR-200b	CLIP-seq
MIRT1326742	hsa-miR-200c	CLIP-seq
MIRT1326743	hsa-miR-2113	CLIP-seq
MIRT2097004	hsa-miR-296-5p	CLIP-seq
MIRT1326745	hsa-miR-3064-5p	CLIP-seq
MIRT1326755	hsa-miR-3173-5p	CLIP-seq
MIRT1326756	hsa-miR-3191	CLIP-seq
MIRT2097005	hsa-miR-329	CLIP-seq
MIRT2097006	hsa-miR-361-3p	CLIP-seq
MIRT1326760	hsa-miR-3619-3p	CLIP-seq
MIRT1326761	hsa-miR-3652	CLIP-seq
MIRT2097007	hsa-miR-4258	CLIP-seq
MIRT2097008	hsa-miR-4260	CLIP-seq
MIRT1326763	hsa-miR-4265	CLIP-seq
MIRT1326765	hsa-miR-429	CLIP-seq
MIRT1326766	hsa-miR-4296	CLIP-seq
MIRT1326767	hsa-miR-4322	CLIP-seq
MIRT2097009	hsa-miR-4417	CLIP-seq
MIRT1326768	hsa-miR-4430	CLIP-seq
MIRT1326771	hsa-miR-4505	CLIP-seq
MIRT1326772	hsa-miR-4508	CLIP-seq
MIRT2097010	hsa-miR-4511	CLIP-seq
MIRT1326780	hsa-miR-4699-3p	CLIP-seq
MIRT2097011	hsa-miR-4707-3p	CLIP-seq
MIRT1326784	hsa-miR-4743	CLIP-seq
MIRT1326787	hsa-miR-4776-5p	CLIP-seq
MIRT1326800	hsa-miR-634	CLIP-seq
MIRT1326731	hsa-miR-1184	CLIP-seq
MIRT2321368	hsa-miR-1207-3p	CLIP-seq
MIRT2321369	hsa-miR-1225-3p	CLIP-seq
MIRT1326732	hsa-miR-1226	CLIP-seq
MIRT2321370	hsa-miR-1233	CLIP-seq
MIRT2321371	hsa-miR-1250	CLIP-seq
MIRT1326735	hsa-miR-1291	CLIP-seq
MIRT1326736	hsa-miR-1301	CLIP-seq
MIRT2321372	hsa-miR-139-5p	CLIP-seq
MIRT1326737	hsa-miR-140-5p	CLIP-seq
MIRT1326740	hsa-miR-1913	CLIP-seq
MIRT1326741	hsa-miR-200b	CLIP-seq
MIRT1326742	hsa-miR-200c	CLIP-seq
MIRT1326744	hsa-miR-2117	CLIP-seq
MIRT1326745	hsa-miR-3064-5p	CLIP-seq
MIRT1326747	hsa-miR-30a	CLIP-seq
MIRT1326748	hsa-miR-30b	CLIP-seq
MIRT1326749	hsa-miR-30c	CLIP-seq
MIRT1326750	hsa-miR-30d	CLIP-seq
MIRT1326751	hsa-miR-30e	CLIP-seq
MIRT1326752	hsa-miR-3121-5p	CLIP-seq
MIRT2321373	hsa-miR-3132	CLIP-seq
MIRT1326754	hsa-miR-3154	CLIP-seq
MIRT1326755	hsa-miR-3173-5p	CLIP-seq
MIRT2321374	hsa-miR-3184	CLIP-seq
MIRT2321375	hsa-miR-3187-3p	CLIP-seq
MIRT2321376	hsa-miR-3200-3p	CLIP-seq
MIRT1326758	hsa-miR-3545-5p	CLIP-seq
MIRT1326760	hsa-miR-3619-3p	CLIP-seq
MIRT1326761	hsa-miR-3652	CLIP-seq
MIRT2321377	hsa-miR-3665	CLIP-seq
MIRT2321378	hsa-miR-3689a-3p	CLIP-seq
MIRT2321379	hsa-miR-3689c	CLIP-seq
MIRT2321380	hsa-miR-3907	CLIP-seq
MIRT2321381	hsa-miR-423-5p	CLIP-seq
MIRT2321382	hsa-miR-4273	CLIP-seq
MIRT1326765	hsa-miR-429	CLIP-seq
MIRT2321383	hsa-miR-4292	CLIP-seq
MIRT1326768	hsa-miR-4430	CLIP-seq
MIRT2321384	hsa-miR-4435	CLIP-seq
MIRT1326769	hsa-miR-4438	CLIP-seq
MIRT1326770	hsa-miR-4460	CLIP-seq
MIRT1326771	hsa-miR-4505	CLIP-seq
MIRT1326772	hsa-miR-4508	CLIP-seq
MIRT2097010	hsa-miR-4511	CLIP-seq
MIRT1326775	hsa-miR-4533	CLIP-seq
MIRT1326778	hsa-miR-4684-5p	CLIP-seq
MIRT2321385	hsa-miR-4688	CLIP-seq
MIRT1326780	hsa-miR-4699-3p	CLIP-seq
MIRT2321386	hsa-miR-4701-5p	CLIP-seq
MIRT2321387	hsa-miR-4728-5p	CLIP-seq
MIRT1326783	hsa-miR-4733-3p	CLIP-seq
MIRT2321388	hsa-miR-4736	CLIP-seq
MIRT1326784	hsa-miR-4743	CLIP-seq
MIRT1326786	hsa-miR-4749-3p	CLIP-seq
MIRT2321389	hsa-miR-4753-3p	CLIP-seq
MIRT2321390	hsa-miR-4758-5p	CLIP-seq
MIRT2321391	hsa-miR-4766-3p	CLIP-seq
MIRT2321392	hsa-miR-4767	CLIP-seq
MIRT1326787	hsa-miR-4776-5p	CLIP-seq
MIRT2321393	hsa-miR-486-3p	CLIP-seq
MIRT1326792	hsa-miR-5047	CLIP-seq
MIRT1326793	hsa-miR-5095	CLIP-seq
MIRT2321394	hsa-miR-548p	CLIP-seq
MIRT2321395	hsa-miR-548s	CLIP-seq
MIRT2321396	hsa-miR-564	CLIP-seq
MIRT2321397	hsa-miR-588	CLIP-seq
MIRT1326800	hsa-miR-634	CLIP-seq
MIRT2321398	hsa-miR-769-5p	CLIP-seq
MIRT1326732	hsa-miR-1226	CLIP-seq
MIRT1326739	hsa-miR-1908	CLIP-seq
MIRT1326740	hsa-miR-1913	CLIP-seq
MIRT1326744	hsa-miR-2117	CLIP-seq
MIRT1326760	hsa-miR-3619-3p	CLIP-seq
MIRT1326783	hsa-miR-4733-3p	CLIP-seq
MIRT1326786	hsa-miR-4749-3p	CLIP-seq
MIRT1326801	hsa-miR-663	CLIP-seq
MIRT2458858	hsa-miR-150	CLIP-seq
MIRT2458859	hsa-miR-3180-5p	CLIP-seq
MIRT2458860	hsa-miR-4755-3p	CLIP-seq
MIRT2458861	hsa-miR-629	CLIP-seq
MIRT2458862	hsa-miR-764	CLIP-seq
MIRT2458863	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16787938
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006470	Process	Protein dephosphorylation	TAS	9736772
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008138	Function	Protein tyrosine/serine/threonine phosphatase activity	TAS	9736772
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	TAS	9736772
GO:0016604	Component	Nuclear body	IDA
GO:0016791	Function	Phosphatase activity	IMP	9537414
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 603560
• HGNC: 10542
• e!Ensembl: ENSG00000100241

Protein

• UniProt ID: O95248
• Protein name: Myotubularin-related protein 5 (Inactive phosphatidylinositol 3-phosphatase 5) (SET-binding factor 1) (Sbf1)
• Protein function: Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03456	uDENN	25 → 85	uDENN domain	Domain
  PF02141	DENN	129 → 311	DENN (AEX-3) domain	Family
  PF12335	SBF2	543 → 765	Myotubularin protein	Family
  PF02893	GRAM	879 → 1018	GRAM domain	Domain
  PF06602	Myotub-related	1108 → 1533	Myotubularin-like phosphatase domain	Domain
  PF00169	PH	1763 → 1866	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neurons within the frontal cortex, in neurons of the deep cerebellar nuclei, stellate and basket cells of the molecular layer, and Golgi cells of the granular layer (at protein level). {ECO:0000269|PubMed:35580604}.
• Sequence:

  MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPER
  NPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPT
  APAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLA
  GGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFL
  SRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQEL
  LDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSS
  LKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKV
  LEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNEN
  PYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTV
  PSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARR
  CLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLS
  PGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQED
  ERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLL
  RERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCT
  ESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDG
  LRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVA
  ALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPD
  IRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWE
  HRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLS
  SSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRS
  GRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADAS
  GRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFL
  RPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEP
  SPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLS
  DPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPM
  EFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDR
  LSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPE
  EERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVK
  AAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGS
  RQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRV
  DTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDR
  IQSCLSDA

• Sequence length: 1868

Pathways

Reactome:

Synthesis of PIPs at the ER membrane
RAB GEFs exchange GTP for GDP on RABs

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism spectrum disorder	Likely pathogenic	rs1569513495	RCV000754681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic	rs144773853	RCV004798921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Likely pathogenic; Pathogenic	rs1569512576	RCV000781831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4B3	Likely pathogenic; Pathogenic	rs1556436855, rs200624784, rs2148590692, rs144773853, rs2521930871, rs2521943497, rs587776986, rs1009209509	RCV001332200 RCV001449576 RCV001449644 RCV001733595 RCV002471622 RCV002471659 RCV000043693 RCV000995635	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs587776986	RCV001252745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SBF1-related disorder	Likely pathogenic	rs2522010204	RCV003402255	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease X-linked dominant 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ 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, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Conflicting classifications of pathogenicity; no classifications from unflagged records	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	BEFREE	11994405		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	11001925, 12687498, 28005197, 30039846		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	BEFREE	23749797, 28005197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	UNIPROT_DG	23749797		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	ORPHANET_DG	23749797		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	24799518, 28902413		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31409769		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	12687498	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	36272304	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	12687498	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	34118926	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	30415825		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22525724		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34118926	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32444983	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30039846		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12687498		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	32444983	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12687498		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polyneuropathies	Polyneuropathy	Pubtator	34118926, 36272304	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	30039846		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24817947	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24817947		★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	24649974		★☆☆☆☆ Found in Text Mining only