MITF (melanocyte inducing transcription factor)

Gene

• Entrez ID: 4286
• Gene name: Melanocyte inducing transcription factor
• Gene symbol: MITF
• Synonyms (NCBI Gene): CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
• Chromosome: 3
• Chromosome location: 3p13
• Summary: The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893744	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs104893745	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs104893746	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs104893747	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs137944487	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs147682682	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs149617956	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs200580325	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs368915509	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs876657698	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs876657699	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs876657700	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs878853234	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1057517966	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518765	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519325	G>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519326	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519327	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057521096	G>A	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs1057522775	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064797294	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1236436555	G>C	Likely-pathogenic	Intron variant
rs1553701477	G>A	Pathogenic	Splice donor variant, intron variant
rs1553702006	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs1553702406	TT>CC	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553703612	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553703619	->CGGGAAACTTGAT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1553704086	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553704093	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553704097	T>C	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553704814	AGA>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1553704841	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1553704850	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1553705282	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1559745185	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1559749017	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1559751245	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1576005420	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576047519	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Review	19935707
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	22771905
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	22771905
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	22771905
MIRT001990	hsa-miR-182-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22848417
MIRT001990	hsa-miR-182-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22848417
MIRT001990	hsa-miR-182-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22848417
MIRT027612	hsa-miR-98-5p	Microarray	19088304
MIRT053171	hsa-miR-218-5p	Flow, Immunofluorescence, Luciferase reporter assay, Western blot	24696000
MIRT438717	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23962556
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT438717	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23962556
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT701955	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT701954	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT701953	hsa-miR-551b-5p	HITS-CLIP	23313552
MIRT701952	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT701951	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT701950	hsa-miR-6830-5p	HITS-CLIP	23313552
MIRT701949	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT701948	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT701947	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT701946	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT701945	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT701944	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT701943	hsa-miR-3679-3p	HITS-CLIP	23313552
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607079	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607079	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607079	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607081	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT607080	hsa-miR-147a	HITS-CLIP	24906430
MIRT607079	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT473191	hsa-miR-6828-5p	PAR-CLIP	23592263
MIRT473189	hsa-miR-147b	PAR-CLIP	23592263
MIRT473190	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT473188	hsa-miR-2113	PAR-CLIP	23592263
MIRT734944	hsa-miR-340-5p	Immunoprecipitaion???Luciferase reporter assay	25414259
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT438717	hsa-miR-101-3p	Microarray	28416776
MIRT575643	hsa-miR-147a	HITS-CLIP	27418678
MIRT575646	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT575642	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575644	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT575645	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT734944	hsa-miR-340-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33179560
MIRT701955	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT701954	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT701953	hsa-miR-551b-5p	HITS-CLIP	23313552
MIRT701952	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT701951	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT701950	hsa-miR-6830-5p	HITS-CLIP	23313552
MIRT701949	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT701948	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT701947	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT701946	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT701945	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT701944	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT701943	hsa-miR-3679-3p	HITS-CLIP	23313552
MIRT575646	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT575645	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT575642	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT473191	hsa-miR-6828-5p	PAR-CLIP	23592263
MIRT473189	hsa-miR-147b	PAR-CLIP	23592263
MIRT473190	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT473188	hsa-miR-2113	PAR-CLIP	23592263
MIRT1149555	hsa-miR-1183	CLIP-seq
MIRT1149556	hsa-miR-124	CLIP-seq
MIRT1149557	hsa-miR-1298	CLIP-seq
MIRT1149558	hsa-miR-2682	CLIP-seq
MIRT1149559	hsa-miR-3613-3p	CLIP-seq
MIRT1149560	hsa-miR-3714	CLIP-seq
MIRT1149561	hsa-miR-3910	CLIP-seq
MIRT1149562	hsa-miR-3935	CLIP-seq
MIRT1149563	hsa-miR-4477b	CLIP-seq
MIRT1149564	hsa-miR-449c	CLIP-seq
MIRT1149565	hsa-miR-4738-3p	CLIP-seq
MIRT1149566	hsa-miR-4775	CLIP-seq
MIRT1149567	hsa-miR-506	CLIP-seq
MIRT1149568	hsa-miR-548a-5p	CLIP-seq
MIRT1149569	hsa-miR-548ab	CLIP-seq
MIRT1149570	hsa-miR-548ak	CLIP-seq
MIRT1149571	hsa-miR-548b-5p	CLIP-seq
MIRT1149572	hsa-miR-548c-5p	CLIP-seq
MIRT1149573	hsa-miR-548d-5p	CLIP-seq
MIRT1149574	hsa-miR-548h	CLIP-seq
MIRT1149575	hsa-miR-548i	CLIP-seq
MIRT1149576	hsa-miR-548j	CLIP-seq
MIRT1149577	hsa-miR-548n	CLIP-seq
MIRT1149578	hsa-miR-548w	CLIP-seq
MIRT1149579	hsa-miR-548y	CLIP-seq
MIRT1149580	hsa-miR-559	CLIP-seq
MIRT1149581	hsa-miR-577	CLIP-seq
MIRT1149582	hsa-miR-607	CLIP-seq
MIRT1149583	hsa-miR-4452	CLIP-seq
MIRT1149584	hsa-miR-183	CLIP-seq
MIRT1149585	hsa-miR-320a	CLIP-seq
MIRT1149586	hsa-miR-320b	CLIP-seq
MIRT1149587	hsa-miR-320c	CLIP-seq
MIRT1149588	hsa-miR-320d	CLIP-seq
MIRT1149589	hsa-miR-377	CLIP-seq
MIRT1149590	hsa-miR-4429	CLIP-seq
MIRT1149557	hsa-miR-1298	CLIP-seq
MIRT2042528	hsa-miR-4504	CLIP-seq
MIRT2042529	hsa-miR-4645-3p	CLIP-seq
MIRT2042530	hsa-miR-542-3p	CLIP-seq
MIRT2042531	hsa-miR-758	CLIP-seq
MIRT2272176	hsa-miR-3612	CLIP-seq
MIRT2272177	hsa-miR-650	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF1	Activation	12966428
ATF1	Unknown	20068147
CREB1	Activation	19937254
EWSR1	Activation	12966428
FOXD3	Repression	21519923
LEF1	Activation	12048204
ONECUT1	Unknown	11478782
ONECUT2	Activation	11478782
PAX3	Activation	20925909;21965087
PAX3	Repression	19074888
PAX3	Unknown	19026785;9500554
POU3F2	Unknown	18628967
SOX10	Activation	16921166
SOX10	Repression	16494873
SOX10	Unknown	10938265;19026785
SOX9	Unknown	17702866
TCF4	Repression	21519923
TRRAP	Repression	15581068
ZNF382	Repression	20682794

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	24769727
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	14737107
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	NAS	24769727
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	14737107, 20530484
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	14737107
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	15507434, 20530484, 21811243, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16822840, 36608670
GO:0005634	Component	Nucleus	IDA	27889061, 28842328
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9647758, 10578055
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	16822840, 28842328, 36608670
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	23401004, 36608670
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	27889061
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9647758, 10578055
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	22234890
GO:0010628	Process	Positive regulation of gene expression	IMP	22234890, 22523078
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IBA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	NAS	9647758
GO:0030336	Process	Negative regulation of cell migration	IMP	19188590
GO:0032991	Component	Protein-containing complex	IDA	20530484
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9647758
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	10578055
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20530484, 21209915
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14737107
GO:0046849	Process	Bone remodeling	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	20530484
GO:0070888	Function	E-box binding	IDA	27889061
GO:0070888	Function	E-box binding	IEA
GO:1902362	Process	Melanocyte apoptotic process	IEA
GO:2000144	Process	Positive regulation of DNA-templated transcription initiation	IDA	8995290, 12204775
GO:2001141	Process	Regulation of RNA biosynthetic process	IDA	16411896

Other IDs

• MIM: 156845
• HGNC: 7105
• e!Ensembl: ENSG00000187098

Protein

• UniProt ID: O75030
• Protein name: Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32)
• Protein function: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrica
• PDB: 4C7N, 7D8R, 7D8S, 7D8T, 7EOD, 8E1D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15951	MITF_TFEB_C_3_N	56 → 228	MITF/TFEB/TFEC/TFE3 N-terminus	Family
  PF00010	HLH	312 → 365	Helix-loop-helix DNA-binding domain	Domain
  PF11851	DUF3371	397 → 522	Domain of unknown function (DUF3371)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in melanocytes (at protein level). {ECO:0000269|PubMed:28842328}.; TISSUE SPECIFICITY: [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta (PubMed:9647758). Expressed in the kidney (PubMed:10578055,
• Sequence:

  MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
  QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
  THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
  PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
  ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTE
  SEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDY
  IRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR
  IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK
  LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC

• Sequence length: 526

Pathways

KEGG:

Mitophagy - animal
Osteoclast differentiation
Melanogenesis
Pathways in cancer
Transcriptional misregulation in cancer
Melanoma

Reactome:

SUMOylation of transcription factors

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
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Pathogenic; Likely pathogenic	rs1553704814, rs1057519325, rs1057519326, rs1057519327, rs149617956	RCV000498643 RCV000416286 RCV000416308 RCV000416298 RCV002490402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs1057517966	RCV000721949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Pathogenic	rs104893746	RCV001813988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial melanoma	Likely pathogenic; Pathogenic	rs149617956	RCV005364885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs104893746	RCV000414854	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs760273611	RCV001374510	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs149617956	RCV000129682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterochromia iridis	Pathogenic	rs104893746	RCV000415265	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs2471644439, rs149617956	RCV006254373 RCV001195106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma, cutaneous malignant, susceptibility to, 8	Pathogenic; Likely pathogenic	rs2107537021, rs1246772999, rs2471621034, rs2471620779, rs2471591500, rs2471630430, rs876657699, rs1553704814, rs2471584748, rs2471585091, rs2471598592, rs2471591650, rs1057517966, rs1057519327, rs1057521096, rs149617956, rs1553702006, rs1559749017, rs1236436555, rs1553704097, rs2065962813, rs2066399731, rs2066264802, rs2066482593, rs1464157509	RCV002544262 RCV003800513 RCV002651712 RCV002857304 RCV002848099 RCV002889744 RCV005222836 RCV005222684 RCV003785634 RCV003804215 RCV003801884 RCV003813250 RCV003766148 RCV003766173 RCV003766234 RCV000022661 RCV003767250 RCV003767887 RCV002534250 RCV003767914 RCV001072064 RCV001053671 RCV005225359 RCV002543007 RCV003770470	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITF-related disorder	Likely pathogenic; Pathogenic	rs1057517966, rs149617956, rs147682682	RCV004745368 RCV005249995 RCV003411560	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic	rs1553704814, rs1464157509	RCV005859464 RCV006250226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic	rs1464157509	RCV001544533	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Poliosis	Pathogenic	rs104893746	RCV000415265	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prelingual sensorineural hearing impairment	Pathogenic	rs104893746	RCV000415265	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs876657700, rs876657698, rs876657699, rs1553703619	RCV000223662 RCV000216354 RCV000218716 RCV000604220	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tietz syndrome	Pathogenic; Likely pathogenic	rs2107537021, rs1246772999, rs2471621034, rs2471620779, rs2471591500, rs2471630430, rs876657699, rs1553704814, rs104893745, rs2471584748, rs2471585091, rs2471598592, rs2471591650, rs1057517966, rs1057519327, rs1057521096, rs149617956, rs1553702006, rs1559749017, rs1553704086, rs1236436555, rs1553704097, rs1576005420, rs2065962813, rs2066399731, rs2066264802, rs2066482593, rs1464157509	RCV002544262 RCV003800513 RCV002651712 RCV002857304 RCV002848099 RCV002889744 RCV005222836 RCV000015342 RCV000015345 RCV003785634 RCV003804215 RCV003801884 RCV003813250 RCV003766148 RCV003766173 RCV003766234 RCV000627790 RCV003767250 RCV003767887 RCV000656418 RCV002534250 RCV003767914 RCV000987285 RCV001072064 RCV001053671 RCV005225359 RCV002543007 RCV003770470	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome	Pathogenic; Likely pathogenic	rs1553704814, rs1057518765, rs1064797294	RCV000826199 RCV000415280 RCV001375177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 1	Pathogenic	rs1559749017	RCV000770828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2	Likely pathogenic; Pathogenic	rs876657699, rs1057521096, rs1236436555, rs1559745185	RCV005250037 RCV003987532 RCV000722130 RCV004800570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2A	Likely pathogenic; Pathogenic	rs2107536936, rs2107552171, rs2107483975, rs2107537096, rs2107519634, rs2107537021, rs1246772999, rs2107519404, rs2107478777, rs2107552061, rs2471621034, rs2471620779, rs2471591500, rs2471630430, rs876657699, rs878853234, rs1553701477, rs1553703612, rs1553704814, rs104893744, rs1553705282, rs104893746, rs2471584748, rs2471585091, rs2471598592, rs2471591650, rs1057517966, rs1057519325, rs1057519326, rs1057519327, rs1057521096, rs149617956, rs1553702006, rs1553704841, rs1559749017, rs147682682, rs1553704086, rs1236436555, rs1553702406, rs1553704097, rs1553704850, rs1576047519, rs2065962813, rs2066399731, rs1439150504, rs2066264802, rs2066400236, rs2066400330, rs2066482593, rs1464157509, rs2066652447	RCV001353101 RCV001353102 RCV001729952 RCV001729950 RCV002051746 RCV002544262 RCV003800513 RCV001808122 RCV002052091 RCV002052211 RCV002052255 RCV002651712 RCV002857304 RCV002848099 RCV002889744 RCV001290157 RCV000225077 RCV000015340 RCV000015341 RCV001290155 RCV000015343 RCV000015344 RCV000015346 RCV003785634 RCV003804215 RCV003801884 RCV003813250 RCV000626399 RCV000416300 RCV000416288 RCV000416310 RCV001290159 RCV000627790 RCV000626398 RCV001029993 RCV000721950 RCV000721951 RCV000656418 RCV002534250 RCV000659861 RCV000659862 RCV000659865 RCV001004797 RCV001072064 RCV001053671 RCV001253716 RCV001290151 RCV001290152 RCV001290153 RCV001290156 RCV001290158 RCV001290160 RCV001290161	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL PAPILLARY RENAL CELL CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KLEINS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Deafness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCUTANEOUS ALBINISM, TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLARY RENAL CELL CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIETZ ALBINISM-DEAFNESS SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIETZES SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 2A	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG-SHAH SYNDROME	—	ClinVar, Orphanet ClinVar, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28837273		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	27680874		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	20201954, 28982372, 31242455		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	32728090, 35488210	Associate	★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	19938076, 30942644		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Sensorineural Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Congenital Sensorineural Deafness	GENOMICS_ENGLAND_DG	27889061		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Congenital Sensorineural Deafness	ORPHANET_DG	9158138		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Albinism, Tyrosinase-Negative	Tyrosinase-negative oculocutaneous albinism	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Albinism, Tyrosinase-Positive	Tyrosinase-positive oculocutaneous albinism	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	8630497		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	31793097		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22523078, 26530832		★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	28837273		★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	29094203		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG	22012259, 23167872, 25803691, 26650189		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28011484, 28976960		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	32012241	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17464203	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	17464203	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	15205688	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31554806, 36045272	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18971960, 25890285, 26999813	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28794318	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	37236926	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33371469	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17284252, 19396149, 19496784, 20679884, 24899691, 25401301, 26650189, 28840857, 30591082, 30622287, 31034483, 31828108, 33242557, 33854184, 34767027, 36564980, 37095531	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22491060	Associate	★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	21119619, 28880216		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28794318		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28794318	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	15205688	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22012259		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	22711280		★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	ORPHANET_DG	22012259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	11826187, 12966428, 15884099, 16766266, 16899407, 18627530, 21949374, 25880253, 31796507		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22012259		★☆☆☆☆ Found in Text Mining only
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	GENOMICS_ENGLAND_DG	23787126, 27889061, 7874167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	BEFREE	27889061		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	UNIPROT_DG	27889061		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21577209, 25789707	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	26025865		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19496784, 22012259, 23167872, 24290354, 26650189, 26999813, 29148086, 30116909, 30707172, 30908700, 31034483, 31326218		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22012259		★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	8589691		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CTD_human_DG	22080950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	24290354, 27473757, 29156734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deaf Mutism	Deafness	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	10851256, 22258527, 23787126, 27759048, 31960627, 31992338, 33942382, 34325055, 34997062	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Acquired	Deafness	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28880216		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28380427		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28380427		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38041124	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35092699	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35092699	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	22258527, 32728090	Associate	★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	ORPHANET_DG	25431349		★☆☆☆☆ Found in Text Mining only
Familial melanoma	Melanoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibromatosis, Aggressive	Fibromatosis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21977985, 36241703, 36834926	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29885053		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	15205688	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26337759		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29293505, 31213145, 31436206, 31898538, 32728090, 33045145, 35982127, 36194208	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29986705, 34323021	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26025865		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28556023		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	28146043		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	27680874		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	22848661		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	33557787	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytoma Angiomatoid Fibrous	Angiomatoid fibrous histiocytoma	Pubtator	35347249	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	15884099, 17188428		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29094203		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	23038766		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28380427		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	29773427		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	10851256, 22258527, 23787126, 29094203, 30644113, 9680380		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20526217, 24390218, 24471568, 25867763, 31207090	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23144021	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	31796507		★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	26999813, 28837273, 28840857		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23038766, 26999813, 28787086, 31034483	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	36834926	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28837273		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	29094203		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28794318, 29383183		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38065972	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	27926791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	22012259, 23038766, 24735727, 24899691, 28787086, 31034483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23167872, 24767713		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30310055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31171711, 31347172		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16001072, 16899407, 22012259, 23167872, 23207919, 25705847, 28543699, 28635133, 30116909, 30502589, 31172223		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	23787126		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31554806		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	21273305		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	21273305		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	20482673, 24406078, 28376192		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10747853, 11886515, 12136092, 12944398, 15103749, 15607961, 16001072, 16116595, 16455654, 16489066, 16645588, 17071589, 17384650, 18628967, 18971960, 19056895, 19233913, 19422606, 19659611, 19784067, 20067553, 20371696, 20439467, 20482673, 20925909, 21494657, 21577209, 21811243, 21887372, 22080950, 22496449, 22537248, 22978401, 23275444, 23349796, 23368872, 23447565, 23774529, 23787126, 23884313, 23934065, 24039954, 24406078, 24443471, 24595456, 24616037, 24733089, 24771846, 24884915, 24954720, 25105565, 25414259, 25605940, 25705847, 25789707, 25803691, 25880253, 25909218, 26035829, 26106605, 26489459, 26650189, 26824319, 26927636, 26977874, 26977879, 27055402, 27181379, 27185926, 27351373, 27391157, 27399772, 27542908, 27702651, 28036292, 28380427, 28545079, 28903138, 29317335, 29369499, 29545604, 29665239, 29679610, 30072397, 30254208, 30277012, 30414346, 30705290, 30910803, 31034483, 31207090, 31881017, 32054529, 32147909, 32532957, 32881934, 33202765, 33322357, 33371469, 33438577, 33741716, 33744299, 33794192, 33800001, 33875769, 33916908, 33990669, 34296805, 34560251, 34573422, 34724200, 34767027, 34958806, 35580987, 35813236, 36040798, 36251678, 36351409, 36879448, 37175614, 37353163, 37752231, 37770430, 37898636, 37924516	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	11700328, 11929831, 12086670, 12235125, 12741683, 12819038, 14583455, 14744763, 15577322, 15607961, 16001072, 16129781, 16204058, 16510564, 16766266, 16862190, 16899407, 17024102, 17071589, 17182868, 17363583, 17371876, 17404109, 17975146, 18451137, 18627530, 19067971, 19233913, 19422606, 19659611, 19784067, 19805117, 20045939, 20083088, 20099279, 20163701, 20357686, 20388797, 20439467, 20442294, 20482673, 20596077, 20644734, 20925909, 21203491, 21245091, 21278792, 21278797, 21358674, 21435193, 21670085, 21801332, 21811243, 21883983, 21912348, 21949374, 22004179, 22012259, 22080950, 22131883, 22250051, 22496449, 22555175, 22594792, 22661227, 22978401, 23167872, 23207919, 23349796, 23414473, 23416000, 23447565, 23477830, 23480510, 23724991, 23728343, 23787126, 23831555, 23921446, 24039954, 24290354, 24317198, 24390218, 24406078, 24595456, 24733089, 24767713, 24769727, 24771846, 24927141, 25030625, 25066122, 25105565, 25111671, 25280339, 25431349, 25433395, 25502142, 25623140, 25705847, 25789707, 25803486, 25803691, 25818589, 25853464, 25866058, 25880253, 26003288, 26035829, 26301891, 26337759, 26387540, 26530832, 26650189, 26824319, 26927636, 26962685, 26973244, 26977879, 27008969, 27012829, 27165740, 27181209, 27185926, 27473757, 27515299, 27680874, 27827304, 27857118, 27869170, 27926791, 28036292, 28119061, 28263292, 28376192, 28380427, 28392346, 28435246, 28463841, 28543699, 28545079, 28584020, 28692464, 28738256, 28759004, 28825724, 28855355, 28880216, 28883623, 28923400, 28976960, 29181082, 29317335, 29408204, 29545604, 29665239, 29679610, 29773427, 29881716, 29960207, 30061422, 30084054, 30150413, 30157785, 30209981, 30254208, 30266801, 30277012, 30414346, 30502589, 30651597, 30699982, 30705290, 30707172, 30823658, 30910803, 30967646, 31123060, 31172223, 31207090, 31208857, 31242455, 31289481, 31318566, 31354817, 31582381, 31733993		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	12086670, 12235125, 15983061, 16129781, 16489066, 16510564, 17182868, 17975146, 18316599, 18451137, 18628967, 18971960, 19188590		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	17201154, 23477830, 35562405	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CTD_human_DG	25043973		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Amelanotic	Melanoma	Pubtator	22555175, 23774529	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19383316, 27640074, 32054529, 32699307, 33322357, 34573422, 35512098, 37898636	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	22555175		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	27181379		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	27181379	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	17975146, 19188590, 21949374, 24039954, 30266801, 31216476		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	10400990, 11493672, 11886515, 11929831, 16394501, 23774529, 26003288, 27604145, 27889061, 31242455, 7874167, 8589691		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	24899691, 28840857, 29148086, 30622287		★☆☆☆☆ Found in Text Mining only
MITF-related melanoma and renal cell carcinoma predisposition syndrome	Cutaneous malignant melanoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG	22012259, 23167872, 25803691, 26650189		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32495878	Associate	★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26845432		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31408435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11929831, 12235125, 14633602, 16001072, 16862190, 17024102, 17975146, 19422606, 19809274, 20596077, 21358674, 21996743, 22325793, 22594792, 22848417, 23167872, 23349796, 23831555, 23921446, 24290354, 24317198, 24616037, 24733089, 24735727, 25433395, 25866058, 26387540, 26530832, 26999813, 27124452, 28011484, 28096186, 28435246, 28545079, 28855355, 28883623, 29408204, 29773427, 30953519, 31162548, 31796507		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	22012259, 22080950, 22158021, 23046018, 23167872, 23774529, 23787126, 23802662, 24290354, 24406078, 2440678, 24660985, 24767713, 25803691, 25975176, 26650189, 26775776, 26800492, 26999813, 27153395, 27473757, 27680874		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9680380		★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	BEFREE	27680874		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	24406078, 28376192		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	29741433		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	29484430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular albinism with congenital sensorineural deafness	Ocular Albinism With Congenital Sensorineural Deafness	GENOMICS_ENGLAND_DG	27889061		★☆☆☆☆ Found in Text Mining only
Ocular albinism with congenital sensorineural deafness	Ocular Albinism With Congenital Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	34323021	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	15205688	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	17464203		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	17464203	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33371469	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	23038766		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23167872, 24767713		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28283772, 39256447	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	ORPHANET_DG	22012259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22012259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma	Papillary Renal Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraganglioma	Paraganglioma	BEFREE	27680874		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	33371469	Associate	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	25621681, 28837273, 29516164		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	26032282	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	27680874		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	BEFREE	28880216		★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Poliosis	Poliosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	9158138		★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prolactinoma	Prolactinoma	BEFREE	31162548		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30310055		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30310055		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36768146	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	22012259, 23038766, 24735727, 24899691, 28787086, 31034483		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12837690, 19496784, 22012259, 23167872, 24290354, 26650189, 26999813, 28840857, 29148086, 30116909, 30707172, 30908700, 31034483, 31326218		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22012259		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30718228		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16586042		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	15205688	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25880253, 31796507		★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	25805798	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	12966428, 25805798	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	35347249	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22012259		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29986705		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37353163	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	CLINVAR_DG	22012259, 23167872, 25803691, 26650189		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	31796507		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31171711, 31347172		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36268034	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32495885	Associate	★☆☆☆☆ Found in Text Mining only
Tietz syndrome	Tietz syndrome	Pubtator	10536986, 10851256, 22258527, 23787126, 33506017	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	BEFREE	10851256, 20485200, 23787126, 27604145		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	ORPHANET_DG	10851256		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	UNIPROT_DG	10851256		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	CLINVAR_DG	22012259, 22080950, 23167872, 23787126, 27473757		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	GENOMICS_ENGLAND_DG	27889061		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tietz syndrome	Tietz Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	27918305	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	22848417, 35512098, 37240204	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	BEFREE	15095274, 26315342, 28082234		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	17071589, 26315342, 36438898	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	15095274, 26315342, 28082234		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	30707172		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	10536986, 12944398, 22876130, 24194866, 25932447, 26781036, 29115496, 29630160, 30936914, 31213145, 31960627, 32728090, 32908492, 33045145, 33454628, 33557787, 33571247, 33942382, 34323021, 34544414, 36329483, 36331148, 37770430	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	10942418, 10982026, 11478782, 16921166, 17627390, 18039926, 22320238, 23207919, 24194866, 27562378, 28236341, 28356565, 29094203, 29531335, 30549420, 31213145, 31562697, 8589691, 8630497, 9500554, 9584079, 9856573		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	LHGDN	12666593, 17627390, 18424413, 18595666		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	CLINVAR_DG	20478267, 20485200, 22258527, 23787126, 24194866, 26781036, 27073475, 27889061, 29094203, 29115496, 29531335, 8589691		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	ORPHANET_DG	30612693		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	7874167		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2	Waardenburg syndrome	Pubtator	10536986, 10851256, 29531335, 31213145, 33045145, 34323021, 8659547	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	10587587, 12871913, 15715979, 17347546, 20485200, 22196401, 22320238, 22848661, 23098757, 26522471, 28356565, 29531335, 30549420, 7874167, 8782819, 9856573		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	ORPHANET_DG	23098757		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2	Waardenburg Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	CLINGEN_DG	23512835, 23787126, 27349893, 27759048, 28356565, 7874167, 7874168, 8782819, 9499424		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	CTD_human_DG	9158138		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2A	Waardenburg syndrome	Pubtator	16638435, 17999358, 23787126, 24194866, 27759048, 31436206, 33557787, 33571247, 33942382, 34544414, 36329483, 8659547	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	30549420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	ORPHANET_DG	30612693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	BEFREE	10400990, 10587587, 11478782, 20485200, 22196401, 22320238, 23098757, 23787126, 24194866, 26522471, 27604145, 28263292, 28356565, 30549420, 30644113, 8659547, 8782819, 9158138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	CLINVAR_DG	22012259, 22080950, 23167872, 23787126, 27473757, 29407415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	GENOMICS_ENGLAND_DG	23787126, 27889061, 7874167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	UNIPROT_DG	28236341, 8589691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	Waardenburg syndrome	CTD_human_DG	9158138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg-Shah syndrome	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations