GJB2 (gap junction protein beta 2)

Gene

• Entrez ID: 2706
• Gene name: Gap junction protein beta 2
• Gene symbol: GJB2
• Synonyms (NCBI Gene): BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
• Chromosome: 13
• Chromosome location: 13q12.11
• Summary: This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801002	C>A,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28929485	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28931593	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931594	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs28931595	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs34988750	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs35887622	A>C,G	Benign, conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72474224	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, likely-pathogenic, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72561723	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs76434661	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338939	C>-,CC	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, not-provided, pathogenic	Frameshift variant, coding sequence variant
rs80338940	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs80338941	C>A,G	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338942	A>-	Likely-benign, pathogenic	Frameshift variant, coding sequence variant
rs80338943	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs80338944	C>T	Pathogenic	Stop gained, coding sequence variant
rs80338945	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338946	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs80338947	CTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs80338948	G>A	Pathogenic	Missense variant, coding sequence variant
rs80338949	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338950	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894395	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs104894396	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894397	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894398	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894401	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894402	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894403	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894404	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894406	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894407	C>G,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs104894408	C>A,G	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894409	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894410	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894412	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894413	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs111033190	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033203	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs111033204	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033217	T>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033222	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033225	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs111033253	CTTGATGAACTTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033293	T>A,C	Likely-pathogenic, pathogenic	Missense variant, initiator codon variant
rs111033294	T>C	Pathogenic	Missense variant, coding sequence variant
rs111033295	T>A,G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033296	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs111033297	G>A	Pathogenic	Stop gained, coding sequence variant
rs111033299	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033327	G>A	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs111033335	TCCAGACAC>GAATGTCATGAACACTG	Pathogenic-likely-pathogenic, pathogenic	Stop gained, inframe indel, coding sequence variant
rs111033360	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033361	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033401	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs111033420	G>A,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs111033451	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121912968	T>C	Pathogenic	Missense variant, coding sequence variant
rs141774369	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs141962118	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143343083	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs150529554	C>A,T	Likely-benign, uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs199883710	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs200104362	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201004645	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201895089	T>C,G	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Splice acceptor variant
rs371024165	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs371086981	A>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Initiator codon variant, missense variant
rs375759781	G>A,C	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs376898963	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs397516871	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516873	ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397516874	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516875	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs397516877	G>T	Pathogenic	Coding sequence variant, missense variant
rs397516878	A>G	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs529500747	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs532203068	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs561870637	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs568612627	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783644	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs587783645	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783646	CA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587783647	TCTA>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs727503066	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs727504302	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs730880338	->A	Pathogenic	Frameshift variant, coding sequence variant
rs747847191	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs750188782	ACACGTTCTTGCAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs756484720	TT>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs763572195	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767178508	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs769486081	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs770116143	CT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs771748289	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs772264564	A>T	Pathogenic	Stop gained, coding sequence variant
rs773528125	->CGTT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs774518779	C>T	Pathogenic	Coding sequence variant, missense variant
rs775828835	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779018464	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs781534323	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs781767722	T>C	Pathogenic	Coding sequence variant, missense variant
rs786204491	->T	Pathogenic	Coding sequence variant, stop gained
rs786204597	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs786204690	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786204734	C>A,T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs797045596	CCCTTGATGAACTTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs876657693	GTGTTGGGACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853241	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253741	C>A	Pathogenic	Coding sequence variant, missense variant
rs886037624	CCAATGCTGGTG>T	Pathogenic	Coding sequence variant, frameshift variant
rs886037625	->ACGTG	Pathogenic	Coding sequence variant, frameshift variant
rs886037849	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs998045226	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517491	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517508	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517519	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057517521	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797088	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064797089	G>T	Pathogenic	Coding sequence variant, missense variant
rs1064797090	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1131691709	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1273330603	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1291519904	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1302739538	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1422767764	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555341783	TTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341794	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341926	->ACTC	Likely-pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1555341931	CC>T	Pathogenic	Coding sequence variant, frameshift variant
rs1555341949	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341954	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341960	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341993	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555342003	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555342007	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555342014	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1566528185	->AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC	Pathogenic	Stop gained, coding sequence variant
rs1566528711	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566528901	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1593351503	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016358	hsa-miR-193b-3p	Microarray	20304954
MIRT017821	hsa-miR-335-5p	Microarray	18185580
MIRT496250	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496249	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496248	hsa-miR-3142	PAR-CLIP	22291592
MIRT496247	hsa-miR-5704	PAR-CLIP	22291592
MIRT496246	hsa-miR-1295a	PAR-CLIP	22291592
MIRT735549	hsa-miR-892a	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	33664589
MIRT496250	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496249	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496248	hsa-miR-3142	PAR-CLIP	22291592
MIRT496247	hsa-miR-5704	PAR-CLIP	22291592
MIRT496246	hsa-miR-1295a	PAR-CLIP	22291592
MIRT1019749	hsa-miR-1285	CLIP-seq
MIRT1019750	hsa-miR-2277-3p	CLIP-seq
MIRT1019751	hsa-miR-3152-5p	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019753	hsa-miR-3187-5p	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019755	hsa-miR-3622a-3p	CLIP-seq
MIRT1019756	hsa-miR-3622b-3p	CLIP-seq
MIRT1019757	hsa-miR-3663-3p	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019760	hsa-miR-3976	CLIP-seq
MIRT1019761	hsa-miR-409-3p	CLIP-seq
MIRT1019762	hsa-miR-4307	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019764	hsa-miR-4423-5p	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019767	hsa-miR-4649-3p	CLIP-seq
MIRT1019768	hsa-miR-4663	CLIP-seq
MIRT1019769	hsa-miR-4795-3p	CLIP-seq
MIRT1019770	hsa-miR-4796-5p	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT1019772	hsa-miR-5096	CLIP-seq
MIRT1019773	hsa-miR-544b	CLIP-seq
MIRT1019774	hsa-miR-612	CLIP-seq
MIRT1019775	hsa-miR-626	CLIP-seq
MIRT1019776	hsa-miR-642a	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019778	hsa-miR-944	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT2388478	hsa-miR-555	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT2538863	hsa-miR-4318	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT2538864	hsa-miR-4693-5p	CLIP-seq
MIRT2538865	hsa-miR-4694-3p	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT2538866	hsa-miR-522	CLIP-seq
MIRT2538867	hsa-miR-592	CLIP-seq
MIRT2538868	hsa-miR-597	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IDA	12767933, 21094651
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	26753910
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	TAS
GO:0005886	Component	Plasma membrane	IDA	12767933, 21094651
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	IDA	12767933
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	21094651
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IDA	12767933
GO:0016264	Process	Gap junction assembly	IEA
GO:0042802	Function	Identical protein binding	IPI	17551008, 19340074
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IDA	12767933
GO:0070161	Component	Anchoring junction	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IDA	12767933
GO:1990349	Process	Gap junction-mediated intercellular transport	IBA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	12767933, 21094651
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA

Other IDs

• MIM: 121011
• HGNC: 4284
• e!Ensembl: ENSG00000165474

Protein

• UniProt ID: P29033
• Protein name: Gap junction beta-2 protein (Connexin-26) (Cx26)
• Protein function: Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed b
• PDB: 2ZW3, 3IZ1, 3IZ2, 5ER7, 5ERA, 5KJ3, 5KJG, 6UVR, 6UVS, 6UVT, 7QEO, 7QEQ, 7QER, 7QES, 7QET, 7QEU, 7QEV, 7QEW, 7QEY, 8Q9Z, 8QA0, 8QA1, 8QA2, 8QA3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00029	Connexin	2 → 215	Connexin	Family

• Sequence:

  MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGC
  KNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE
  IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDC
  FVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV

• Sequence length: 226

Pathways

Reactome:

Transport of connexons to the plasma membrane

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	Pathogenic	rs80338943, rs111033204	RCV003313925 RCV003313933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	Likely pathogenic; Pathogenic	rs2137307322, rs1555341945, rs35887622, rs28931594, rs104894408, rs28929485, rs72561723, rs1566528711	RCV001730114 RCV004565138 RCV004783726 RCV000018546 RCV000018548 RCV000018549 RCV000018556 RCV000018561 RCV000735855	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant nonsyndromic hearing loss 3A	Likely pathogenic; Pathogenic	rs587783647, rs786204597, rs532203068, rs35887622, rs104894396, rs104894397, rs80338939, rs80338950, rs80338948, rs80338942, rs104894402, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs1801002, rs1057517521, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs201895089, rs1064797088, rs1064797090, rs111033361, rs397516873, rs104894408, rs111033295, rs76434661, rs111033190, rs998045226, rs1566528901, rs1566528185	RCV000411907 RCV000411925 RCV000490342 RCV000487479 RCV000411010 RCV000412297 RCV000411531 RCV001112462 RCV001196233 RCV000409300 RCV000018535 RCV000410166 RCV000409625 RCV000018542 RCV000018544 RCV000018545 RCV001002768 RCV000018553 RCV000018555 RCV003147300 RCV000018559 RCV000410225 RCV000412324 RCV000409438 RCV000409815 RCV000411084 RCV000410120 RCV000410947 RCV000411693 RCV000410366 RCV001109960 RCV000022511 RCV000487475 RCV000623392 RCV001836634 RCV000411009 RCV000411497 RCV000412394 RCV000409236 RCV000411577 RCV001078465 RCV000721922 RCV001809798	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 104	Pathogenic; Likely pathogenic	rs80338939, rs80338940	RCV003335044 RCV003458323	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 1A	Likely pathogenic; Pathogenic	rs370696868, rs80338939, rs760489970, rs199883710, rs2137307658, rs2137308740, rs1555341986, rs1959060696, rs587783647, rs587783646, rs143343083, rs104894407, rs777225786, rs727503066, rs730880338, rs727504302, rs104894409, rs200023879, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs104894413, rs111033296, rs371024165, rs111033420, rs763572195, rs772264564, rs797045596, rs397516875, rs532203068, rs774518779, rs1959057429, rs750188782, rs2500252186, rs35887622, rs80338944, rs104894396, rs104894397, rs104894398, rs80338947, rs80338950, rs80338948, rs80338942, rs886037624, rs80338943, rs80338945, rs104894401, rs72474224, rs886037625, rs28931593, rs80338940, rs72561723, rs1801002, rs80338941, rs1057517521, rs1057517508, rs767178508, rs1057517491, rs1057517519, rs371086981, rs201895089, rs1131691709, rs1378679640, rs1555341794, rs141774369, rs1555342014, rs775828835, rs111033190, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033335, rs111033294, rs111033401, rs568612627, rs770330002, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341907, rs1555341949, rs769486081, rs1555341954, rs998045226, rs375759781, rs1302739538, rs1566528711, rs1566528185, rs1291519904, rs1422767764, rs587783645, rs1959056736, rs1959062017, rs1476034902	RCV005431465 RCV000169169 RCV003232335 RCV005438075 RCV001822874 RCV001729948 RCV002051744 RCV002051745 RCV000175766 RCV000169500 RCV000169347 RCV000984267 RCV004577374 RCV005237586 RCV000154347 RCV000505508 RCV000169112 RCV005629670 RCV000169350 RCV000169613 RCV000169473 RCV000169498 RCV000169446 RCV000169160 RCV000169070 RCV000169604 RCV000169176 RCV000169292 RCV000169075 RCV004796760 RCV005869992 RCV001276815 RCV000194203 RCV000210857 RCV000416724 RCV000490342 RCV000587164 RCV003236760 RCV000374903 RCV003493993 RCV000018523 RCV000018524 RCV000018525 RCV000018526 RCV000018527 RCV000018529 RCV000018530 RCV000018531 RCV000018533 RCV000018534 RCV000018537 RCV000018538 RCV000018541 RCV000018543 RCV000018550 RCV000018552 RCV000210858 RCV000018557 RCV000018560 RCV000022510 RCV000018564 RCV000020570 RCV000020575 RCV000411838 RCV000411799 RCV000409580 RCV000412105 RCV000409450 RCV000410601 RCV000409687 RCV000416425 RCV003236759 RCV005431707 RCV000505521 RCV000664954 RCV000855645 RCV000588025 RCV000586317 RCV000597784 RCV000505512 RCV000037820 RCV000037821 RCV005237459 RCV000675160 RCV000037834 RCV000037835 RCV000037836 RCV000409896 RCV000410006 RCV000037844 RCV000037846 RCV000289146 RCV000037855 RCV000667555 RCV000037866 RCV000037868 RCV000410025 RCV000666282 RCV000665870 RCV000673989 RCV000670090 RCV000672814 RCV000674832 RCV000665536 RCV000665123 RCV000669046 RCV000664585 RCV000668607 RCV000665228 RCV000670427 RCV000667085 RCV000667043 RCV000664869 RCV001089546 RCV002287436 RCV000721943 RCV005860137 RCV000770823 RCV000778387 RCV001835954 RCV000781416 RCV000785599 RCV004789378 RCV001175165 RCV004768913	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 1B	Pathogenic; Likely pathogenic	rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs80338942, rs80338943, rs80338945, rs72474224, rs80338940, rs111033204, rs111033253, rs104894408, rs76434661, rs111033294	RCV001004397 RCV001004393 RCV001004398 RCV001004394 RCV001004400 RCV001004395 RCV001004392 RCV001004391 RCV001004396 RCV001004401 RCV001004390 RCV001004389 RCV001004399 RCV001004388 RCV001004386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral conductive hearing impairment	Pathogenic	rs80338939	RCV000415367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral sensorineural hearing impairment	Pathogenic	rs80338939	RCV000414886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs201895089	RCV005900709	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs201895089	RCV005900710	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CREBBP-related disorder	Pathogenic	rs111033204	RCV005222723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Pathogenic; Likely pathogenic	rs80338939, rs80338945, rs150529554	RCV000509532 RCV001775068 RCV000679816	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, digenic, GJB2/GJB3	Pathogenic	rs80338943	RCV000018539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, digenic, GJB2/GJB6	Pathogenic	rs80338939	RCV000018528	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Pathogenic; Likely pathogenic	rs773528125, rs80338939, rs80338940	RCV001814083 RCV001813994 RCV001813995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GJB2-related disorder	Likely pathogenic; Pathogenic	rs587783647, rs587783646, rs143343083, rs771748289, rs773528125, rs781534323, rs104894413, rs763572195, rs532203068, rs35887622, rs104894396, rs104894397, rs80338939, rs104894398, rs80338948, rs80338942, rs80338943, rs80338945, rs72474224, rs80338940, rs104894409, rs1801002, rs1057517521, rs767178508, rs371086981, rs201895089, rs111033297, rs111033299, rs397516873, rs104894408, rs111033294, rs111033190	RCV004734703 RCV004528870 RCV004734702 RCV004535149 RCV004539571 RCV004528922 RCV004734765 RCV006270568 RCV004530262 RCV004724749 RCV004734522 RCV004532383 RCV004532384 RCV004734523 RCV004532385 RCV000346888 RCV004528121 RCV004734524 RCV003335045 RCV004532386 RCV003335046 RCV004532387 RCV004734527 RCV004529564 RCV004735500 RCV004530500 RCV004530519 RCV004534804 RCV004734552 RCV004534806 RCV004734553 RCV004734554 RCV004534808 RCV000778388	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs80338939, rs587783647, rs587783646, rs143343083, rs587783645, rs104894407, rs35887622, rs104894396, rs104894397, rs104894398, rs80338947, rs80338948, rs80338942, rs80338943, rs80338945, rs72474224, rs28931593, rs80338940, rs104894409, rs1801002, rs80338950, rs111033299, rs111033253, rs104894408, rs111033295, rs76434661, rs111033294	RCV001375474 RCV000146027 RCV000146026 RCV000146015 RCV000146009 RCV000146007 RCV001375142 RCV000146028 RCV001526518 RCV000146019 RCV000146008 RCV000146018 RCV000146023 RCV000146010 RCV000146011 RCV000146013 RCV000146005 RCV005624697 RCV000146002 RCV000146012 RCV000146020 RCV000146024 RCV000146014 RCV000146016 RCV000146017 RCV000146021 RCV000146022 RCV000146025	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss	Likely pathogenic; Pathogenic	rs80338939, rs143343083, rs730880338, rs756484720, rs35887622, rs104894396, rs104894398, rs80338947, rs80338950, rs80338948, rs80338942, rs104894403, rs80338943, rs80338945, rs28931594, rs80338940, rs80338941, rs1057517519, rs111033190, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs998045226, rs375759781, rs104894402	RCV000678861 RCV000678877 RCV000678876 RCV000678879 RCV000678866 RCV000678864 RCV000678860 RCV000678867 RCV000678881 RCV000678888 RCV000678885 RCV000678869 RCV000678871 RCV000678874 RCV000678875 RCV000678868 RCV000678858 RCV000678862 RCV000678863 RCV000678889 RCV000678865 RCV000678870 RCV000678878 RCV000678859 RCV000678882 RCV000678883 RCV000678884 RCV000678892 RCV000678887 RCV000678886 RCV000678872	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs80338944, rs104894396, rs80338939, rs104894402, rs72474224, rs28931593, rs80338940, rs150529554	RCV001291332 RCV001291329 RCV001270107 RCV001291330 RCV004699117 RCV001291331 RCV001291328 RCV001291333	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs201895089	RCV005900707	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary palmoplantar keratoderma	Pathogenic; Likely pathogenic	rs104894396, rs80338939, rs104894402, rs28931593, rs80338940	RCV004798735 RCV004798736 RCV001257037 RCV001257038 RCV004798737	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis and erythrokeratoderma	Pathogenic	rs28931594	RCV005646842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis, hystrix-like, with hearing loss	Pathogenic; Likely pathogenic	rs104894396, rs80338945, rs28931594, rs201895089	RCV001112641 RCV001109788 RCV000018547 RCV001109959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFAP syndrome 1, with or without BRESHECK syndrome	Pathogenic	rs781767722	RCV000766235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs80338939, rs76434661	RCV005624696 RCV005625227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Knuckle pads, deafness AND leukonychia syndrome	Pathogenic; Likely pathogenic	rs80338944, rs104894396, rs80338939, rs80338948, rs80338942, rs80338943, rs80338945, rs72474224, rs80338940, rs104894412, rs1801002, rs201895089, rs111033253, rs76434661	RCV005229816 RCV005229817 RCV001542777 RCV005357139 RCV005357140 RCV005357141 RCV005364882 RCV005357142 RCV005364883 RCV000018558 RCV005357157 RCV005355708 RCV005357269 RCV005357270	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs201895089	RCV005900706	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs201895089	RCV005900712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic; Likely pathogenic	rs756484720, rs371024165, rs575453513, rs80338944, rs80338947, rs80338942, rs1057517521, rs111033293, rs111033253, rs111033190	RCV005638459 RCV005860022 RCV005862542 RCV005862503 RCV006272082 RCV006261939 RCV005645080 RCV006255137 RCV005859481 RCV006258939	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mutilating keratoderma	Pathogenic; Likely pathogenic	rs104894396, rs80338939, rs80338948, rs80338942, rs104894403, rs80338943, rs80338945, rs28931594, rs72474224, rs80338940, rs1801002, rs201895089, rs111033253, rs104894408, rs76434661, rs998045226	RCV002247354 RCV005357138 RCV005357139 RCV000291910 RCV000018536 RCV005357141 RCV005364882 RCV002247355 RCV005357142 RCV005364883 RCV005357157 RCV005355708 RCV005357269 RCV002247424 RCV005357270 RCV002249403	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs201895089	RCV005900708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Deafness	Pathogenic; Likely pathogenic	rs730880338, rs35887622, rs72474224, rs28931593, rs111033299	RCV001270032 RCV001270137 RCV001270106 RCV004771802 RCV006255138	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs756467247, rs587783646, rs730880338, rs727504302, rs2500250227, rs786204597, rs756484720, rs781534323, rs575453513, rs2500253846, rs532203068, rs35887622, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338950, rs80338948, rs80338942, rs104894402, rs80338943, rs80338945, rs104894401, rs72474224, rs28931593, rs80338940, rs104894409, rs1801002, rs80338941, rs767178508, rs199883710, rs1057517519, rs371086981, rs201895089, rs1131691709, rs1378679640, rs141774369, rs111033190, rs111033293, rs111033361, rs111033299, rs111033253, rs397516873, rs104894408, rs111033294, rs111033401, rs568612627, rs1555341960, rs1566528901, rs1302739538, rs1291519904, rs1422767764, rs747847191, rs374572413	RCV003331179 RCV005632251 RCV001257559 RCV005237590 RCV002444408 RCV005055667 RCV001257562 RCV001257041 RCV004690348 RCV003315266 RCV001252673 RCV000211758 RCV000211778 RCV001257039 RCV000211775 RCV001257036 RCV001257563 RCV001257160 RCV001257564 RCV000211757 RCV001257037 RCV000211768 RCV001257157 RCV006262323 RCV000211759 RCV001257038 RCV001257033 RCV001257042 RCV001257034 RCV001257035 RCV001257565 RCV004767246 RCV001257156 RCV001171533 RCV000710316 RCV002281716 RCV001004776 RCV004595511 RCV001252676 RCV002232559 RCV003990963 RCV001252671 RCV001257560 RCV001257561 RCV001527052 RCV000037839 RCV001257566 RCV001293597 RCV001779042 RCV003991034 RCV001257040 RCV003991035 RCV004689868 RCV001004778 RCV003317365 RCV004017739 RCV003230592 RCV001251625	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
nonsyndromic sensorineural hearing loss	Likely pathogenic; Pathogenic	rs760489970, rs143343083, rs1057517519, rs111033190, rs1291519904	RCV001374649 RCV001374647 RCV001374656 RCV001374640 RCV001374648	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 1	Pathogenic	rs1593351503	RCV000991326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma-deafness syndrome	Pathogenic; Likely pathogenic	rs879253741, rs104894396, rs80338939, rs80338948, rs80338942, rs104894402, rs80338943, rs104894404, rs80338945, rs72474224, rs28931593, rs80338940, rs121912968, rs1801002, rs201895089, rs104894410, rs111033253, rs76434661	RCV000234850 RCV003388568 RCV005357138 RCV005357139 RCV005357140 RCV001799506 RCV005357141 RCV000018540 RCV005364882 RCV005357142 RCV000018554 RCV005364883 RCV000018565 RCV005357157 RCV005355708 RCV000588875 RCV005357269 RCV005357270	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Porokeratotic adnexal ostial nevus	Pathogenic	rs1555341945	RCV005863610	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive sensorineural hearing impairment	Pathogenic	rs104894409	RCV000626853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs80338939, rs587783647, rs143343083, rs727503066, rs104894404, rs730880338, rs727504302, rs72474224, rs771748289, rs773528125, rs756484720, rs104894395, rs371024165, rs876657693, rs774518779, rs35887622, rs80338944, rs104894396, rs104894397, rs104894398, rs80338947, rs80338950, rs80338948, rs80338942, rs104894402, rs80338943, rs80338945, rs28931593, rs80338940, rs104894409, rs1801002, rs80338941, rs767178508, rs1555341794, rs141774369, rs111033296, rs111033297, rs111033451, rs111033293, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs397516877, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401	RCV000609278 RCV000217521 RCV000215444 RCV000150729 RCV000150733 RCV000211771 RCV000154345 RCV000156043 RCV000609655 RCV004017450 RCV000616234 RCV000218259 RCV000614720 RCV000213910 RCV004017573 RCV000844701 RCV000211767 RCV000844631 RCV000211765 RCV000844702 RCV000211760 RCV000211776 RCV000211781 RCV000211779 RCV000844699 RCV000211763 RCV000844630 RCV000211772 RCV000211764 RCV000211766 RCV000211770 RCV000211769 RCV000211720 RCV000602210 RCV000825565 RCV000826191 RCV000603609 RCV000826112 RCV000037813 RCV000211761 RCV000211718 RCV000211762 RCV000037832 RCV000211719 RCV000211773 RCV000211774 RCV000037837 RCV000844703 RCV000211721 RCV000211777 RCV000037851 RCV000037852 RCV000211780 RCV000037856 RCV000211782 RCV000211783 RCV000037873 RCV000037874	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs201895089	RCV005900711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs80338944, rs104894396, rs28931594	RCV005420505 RCV005420506 RCV001175247	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe sensorineural hearing impairment	Pathogenic	rs80338939	RCV000415175	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 12	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BART-PUMPHREY SYNDROME	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTIVE HEARING LOSS, BILATERAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 3A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 104	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 1A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 1B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DIGENIC, GJB2-GJB3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DIGENIC, GJB2-GJB6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, X-LINKED 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis ichthyosis and deafness syndrome	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS, ICHTHYOSIS, AND DEAFNESS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOTIC ECCRINE OSTIAL AND DERMAL DUCT NEVUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE HEARING LOSS STAPES FIXATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENTER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VOHWINKEL SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	30204287		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	22391066		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	22391066		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	22031297		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amniotic Bands	Amniotic Bands	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11872644		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32228510	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31146170		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	16549217		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	22298274, 9008232, 9665389	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	23252691		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	16154643		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	16154643, 16549217		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	16222667, 17701047, 24164807		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	16222667, 17701047, 24164807, 30816908		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	21298644	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	28012523		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11313783, 11779406, 18288642, 23579952, 31539120, 8187096		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	19235794, 21298644	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	9932890		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11872627, 18191019, 21617344, 25383624, 30542725		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14681046, 16567471, 23374644, 31292488, 32918981	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11912510, 11918723, 34111567	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12557263, 15386363, 20372813		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26299454	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15334670	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34830068, 36498978	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11313783, 11779406, 18288642, 23579952, 31539120, 8187096		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15386363, 18191019, 30845770		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27228968		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10767631		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10610709, 9529365		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30204287		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	19877196		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	17989577		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	21298644	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16549217		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	23437299	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18245526, 30259389		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15770735, 16207476, 20565955, 23386606	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	18278224	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	18412859, 25583854		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	LHGDN	18412859		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss, bilateral	Hearing Loss	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of brain	Brain malformation	BEFREE	19175781		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	31618082		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	31372730		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	16679758, 1951425, 23675785		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	10376574, 10544226, 10713883, 15140211, 15280719, 15603707, 20668687, 21042228, 27827000, 28821934		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31842654		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	17989577, 26919292		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10704187		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	19793313		★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	16172043		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	10204859, 10353784, 10633135, 10903123, 11807148, 11977173, 12083723, 12172394, 14571368, 14985372, 15070423, 15113126, 15245427, 15365987, 15790391, 16379178, 16460646, 16773579, 16849369, 16885744, 16941638, 17581693, 17698299, 18585793, 18656178, 18787097, 19040761, 19265722, 19744334, 20154630, 20835527, 20890442, 21122151, 21162657, 21205314, 21811586, 21917135, 21956600, 22106692, 22384008, 22534022, 22574200, 22785241, 22787277, 23430402, 23503914, 23767834, 23826813, 23967202, 24341454, 24346070, 24612839, 24830326, 24899615, 24998936, 25149889, 25153233, 25493717, 25585383, 25625422, 25636251, 26043044, 26061099, 26061264, 26075227, 26252218, 26763442, 26763877, 26783197, 26831144, 26896187, 27308839, 27344577, 27350192, 27573290, 28151902, 28198501, 28222800, 28429364, 28687817, 28717060, 28821934, 28900111, 28901477, 28925492, 29434063, 29568747, 29685927, 29926981, 30036422, 30086704, 30139988, 30235673, 30316039, 30344259, 30466042, 30576380, 30693673, 31250571, 31345197, 31370293, 31564438, 31581539, 31871493, 31992338, 32048449, 32067424, 32090102, 32388442, 32400865, 32708339, 32847582, 33095980, 33138774, 33187236, 33443819, 33466560, 33517119, 33524517, 33530996, 33724713, 33780732, 33827324, 33907123, 34335733, 34837038, 35047053, 35061219, 35106950, 35114279, 35126756, 35200227, 35212567, 36555390, 37070846, 37996878, 38172182, 38172427, 39302317, 39700758, 40225913, 7668291, 9482292, 9507396, 9819448	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Deafness	Pubtator	26061264	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Dominant 1	Deafness	Pubtator	16648378	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	10204859, 10903123, 22567152, 9482292	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	18656178	Stimulate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 1A	Deafness	Pubtator	31195736, 37239361	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	16172043		★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	BEFREE	28322114		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	Deafness	CLINVAR_DG	10376574, 10501520, 10713883, 10982180, 11102979, 11313763, 11354642, 11438992, 11493200, 11584050, 12172392, 12172394, 12176036, 12189493, 12352684, 12408072, 12505163, 12792423, 12865758, 12910486, 12925341, 14676473, 14985372, 15070423, 15365987, 15617550, 15666300, 15967879, 16059934, 16217030, 16222667, 16380907, 16931589, 16950989, 17041943, 17485979, 17567887, 17660464, 17666888, 17935238, 18294064, 18472371, 18776652, 19235794, 19371219, 19567088, 19715472, 19929407, 20022641, 20096356, 20234132, 20650534, 20863150, 21040787, 21094084, 21094651, 21465647, 21777984, 22567861, 22613756, 22695344, 22925408, 22991996, 23668481, 23680645, 23856378, 23967136, 24158611, 24256046, 24529908, 24774219, 24949729, 25266519, 25288386, 25388846, 25401782, 25625422, 26043044, 26252218, 26397989, 26444186, 9285800, 9328482, 9336442, 9856479		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	Deafness	UNIPROT_DG	10807696, 11313763, 11439000, 12668604, 12786758, 19384972, 9620796		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	Deafness	GENOMICS_ENGLAND_DG	31160754		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	10874298, 11180233, 12820705, 12833397, 12885338, 15464308, 15855033, 15954104, 17365058, 21776002, 22567152, 23434199, 24346070, 24807585, 31195736, 9195157, 9285800		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	CLINGEN_DG	12176036, 15241677, 21876744, 25801282, 9139825, 9482292, 9507396, 9529365		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 12	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	CLINVAR_DG	10049954, 10218527, 10376574, 10501520, 10544226, 10556284, 10633133, 10713883, 10751669, 10830906, 10903123, 10982180, 10983956, 11102979, 11134236, 11216656, 11313751, 11313763, 11438992, 11439000, 11493200, 11494963, 11556849, 11584050, 11935342, 11968091, 12081719, 12112666, 12121355, 12172392, 12172394, 12176036, 12176179, 12189487, 12189493, 12239718, 12325027, 12352684, 12384501, 12408072, 12457340, 12497637, 12505163, 12560944, 12562518, 12673800, 12746422, 12792423, 12833397, 12865758, 12885339, 12910486, 12925341, 14676473, 14681040, 14694360, 14985372, 15033936, 15070423, 15113126, 15146474, 15241677, 15253766, 15365987, 15464305, 15479191, 15488970, 15592461, 15617550, 15656949, 15666300, 15700112, 15954104, 15964725, 15967879, 16088916, 16154643, 16217030, 16222667, 16300957, 16380907, 16532460, 16712961, 16840571, 16849369, 16864573, 16931589, 16950989, 17036313, 17041943, 17146393, 17146396, 17331080, 17406097, 17426645, 17428836, 17431919, 17485979, 17567887, 17660464, 17666888, 17935238, 18294064, 18472371, 18519481, 18560174, 18580690, 18684989, 18758381, 18776652, 18837651, 18941476, 18983339, 19027181, 19125024, 19157576, 19235794, 19366456, 19371219, 19384972, 19390476, 19567088, 19707039, 19715472, 19775242, 19925344, 19929407, 20022641, 20073550, 20083784, 20095872, 20096356, 20146813, 20154630, 20234132, 20236118, 20381175, 20441744, 20497192, 20553101, 20639189, 20650534, 20708129, 20739944, 20815033, 20863150, 21040787, 21094084, 21094651, 21112098, 21122151, 21131880, 21198395, 21287563, 21292415, 21366436, 21465647, 21738759, 21776002, 21777984, 21811586, 21912263, 21962949, 22384008, 22429511, 22567152, 22567861, 22592158, 22613756, 22668073, 22695344, 22785241, 22787277, 22796187, 22925408, 22975760, 22991996, 23039283, 23120683, 23141775, 23266159, 23418865, 23555729, 23638949, 23668481, 23680645, 23695287, 23826813, 23856378, 23873582, 23967136, 24013081, 24078562, 24158611, 24224790, 24256046, 24372583, 24503448, 24507663, 24529908, 24551843, 24737404, 24774219, 24793888, 24949729, 25012701, 25085072, 25189242, 25262649, 25266519, 25270357, 25288386, 25388846, 25401782, 25625422, 25636251, 25708704, 25788563, 25891447, 26043044, 26061099, 26061264, 26088551, 26095810, 26096904, 26117665, 26188157, 26236732, 26252218, 26346709, 26381000, 26397989, 26444186, 26482070, 26553399, 26749107, 26763877, 26778469, 26896187, 27169813, 27247933, 27534436, 27623246, 9139825, 9285800, 9328482, 9336442, 9471561, 9482292, 9529365, 9600457, 9710598, 9716127, 9819448		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	UNIPROT_DG	10807696, 11313763, 11439000, 12668604, 12786758, 19384972, 9620796		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	GENOMICS_ENGLAND_DG	15482471, 31160754		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 1b	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 9	Deafness	BEFREE	16097006		★☆☆☆☆ Found in Text Mining only
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)	DEAFNESS, DIGENIC	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)	DEAFNESS, DIGENIC	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)	DEAFNESS, DIGENIC	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)	DEAFNESS, DIGENIC	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	23430402	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	10757647, 10888284, 11933201, 12064628, 12668604, 14681040, 14681041, 14978038, 15245427, 15337980, 15482471, 17428836, 18472371, 18787097, 18987669, 19283857, 19775242, 19939300, 22643125, 23035047, 23447037, 23856378, 24604124, 26763442, 28428247, 28569788, 30228305, 30530766, 31419744, 31472357		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	LHGDN	14681041, 18787097		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26490746, 28603488		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29587265	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15091236, 19027966		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	24359029	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	24807585		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10369869, 10633135, 10807696, 11493200, 11918723, 12072059, 15040442, 15365987, 15482471, 18804553, 21465647, 25937001, 26940866		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	12172394	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	11912510, 17106596, 20230788		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	11912510		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	15140211, 15245427, 17106596, 25575739	Associate	★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	27137747		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	27137747		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	27137747		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	27137747		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11433394		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18519234		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18519234, 19820388	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24270393		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	20031451	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29227800		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12557263, 14532970		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12557263, 14532970		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	12557263		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22502669	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	18191019		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	15775754		★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	15775754		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30280947		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	29381772, 30747249		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	17695503		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	17695503	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	15823911	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	10544226, 16849369, 31564438, 38037722	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	10544226, 10633133, 10633135, 10739769, 10807696, 11134236, 11483639, 12172394, 14571368, 14681040, 14985372, 15070423, 15140211, 15365987, 15482471, 15719042, 16158474, 16380907, 16460646, 16650419, 16840571, 16849369, 16931589, 16941638, 17041943, 17615163, 17660464, 18278224, 18585793, 18985073, 19040761, 19082351, 19235794, 19274344, 19744334, 20083784, 20096356, 20154630, 20393307, 20442751, 20668687, 20890442, 21122151, 21298213, 21728752, 21738759, 21811586, 21912263, 22106692, 22574200, 22617145, 22842402, 23469187, 23489192, 23503914, 23504403, 23637863, 23873582, 23967202, 24039984, 24080506, 24156272, 24337325, 24346070, 24551843, 24714853, 24804242, 24945352, 24959830, 25149764, 25153233, 25388789, 25484013, 25628337, 25636251, 26043044, 26061099, 26061264, 26381000, 26399936, 26429191, 26832775, 26896187, 27057829, 27177978, 27224056, 27308839, 27350192, 27573290, 27792752, 27884957, 28000701, 28225033, 28281779, 28405014, 28428247, 28513246, 28640090, 28687817, 28821934, 28872160, 28901477, 28925492, 29270100, 29293505, 29634755, 29707576, 29926981, 30036422, 30068397, 30086704, 30146550, 30303587, 30316039, 30837189, 30867468, 30872814, 31160754, 31195736, 31347505, 31370293, 31412945, 31846914, 31926383, 31985074, 31992338, 32012697, 32067424, 32120898, 32388442, 32708339, 32802038, 32842620, 33096615, 33187236, 33466560, 33517119, 33530996, 33638616, 33639928, 33753912, 33780732, 33839059, 33907123, 34032567, 34042254, 34062854, 34154485, 34194829, 34325055, 34360009, 34440452, 34581455, 34753855, 34883447, 34936523, 34946889, 34997062, 35016843, 35101039, 35114279, 35177385, 35577055, 35816303, 35982127, 36555390, 36593740, 36633841, 36980833, 37017887, 37167444, 37239361, 37438890, 37683890, 37801830, 38002950, 38037722, 38069086, 40225913, 9529365	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing Loss	Hearing loss	Pubtator	26061264, 37996878	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing Loss Sensorineural	Hearing loss	Pubtator	10544226, 10633135, 11912510, 15140211, 16840571, 17119768, 18787097, 18941476, 19235794, 20083784, 20146813, 20236118, 20835527, 21122151, 21131880, 21254920, 21298644, 22106692, 22567152, 22785241, 23873582, 24804242, 24945352, 25162826, 25493717, 25885414, 26381000, 27057829, 27583405, 28102197, 28405014, 28428247, 28717060, 28821934, 28872160, 28946916, 30036422, 30146550, 30576380, 31160754, 32090102, 32388442, 33233769, 34325055, 36928321, 37239394, 37683890, 39336818, 39684270, 40225913, 7668291, 9482292, 9507396	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35853923	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	10830906		★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	BEFREE	29911391		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27228968		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	29270100	Associate	★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	CTD_human_DG	16172043		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	BEFREE	15245427, 25575739, 25808784		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	15757815		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	18790089, 26896187		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	10536965, 10633135, 25229253, 27087580		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	10633135, 24346921	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	9023700		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	11874189		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	CTD_human_DG	16172043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	BEFREE	16679758, 1951425, 23675785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis	Ichthyosis	Pubtator	27409001, 30287322	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	Hystrix-like ichthyosis with deafness	CLINVAR_DG	10376574, 10713883, 12172392, 17666888, 18294064, 9285800, 9328482, 9336442		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	Hystrix-like ichthyosis with deafness	BEFREE	12072059		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	Hystrix-like ichthyosis with deafness	UNIPROT_DG	12072059		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	Hystrix-like ichthyosis with deafness	GENOMICS_ENGLAND_DG	15482471, 15757815, 31160754		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	Hystrix-like ichthyosis with deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30150638	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30150638		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27417573, 28430383, 31243856		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	27417573	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	30542725		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31243856		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	12752120, 15140211, 16172043, 17106596, 18024254, 18412859, 19785089, 20846357, 21933663, 22592158, 22643125, 23447037, 23756814, 23924173, 24939841, 25229253, 25575739, 26831144, 27141831, 29018324, 29742560, 30530766, 3232512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis	Keratitis	CTD_human_DG	16172043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis	Keratitis	Pubtator	27409001, 30287322	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis	Keratitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis Ichthyosis Deafness Syndrome	Keratitis ichthyosis deafness syndrome	Pubtator	11912510, 11918723, 15140211, 15245427, 15482471, 15823911, 16885744, 17106596, 22592158, 23924173, 24785414, 25422938, 25575739, 25625422, 26831144, 27141831, 27884957, 28158657, 30150638, 30287322, 33022747, 33443819	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis-Ichthyosis-Deafness Syndrome	Keratitis ichthyosis and deafness syndrome	BEFREE	11912510, 11918723, 12072059, 12752120, 15140211, 15337980, 15547422, 15633193, 15691545, 15823911, 16197390, 16679758, 16877344, 16885744, 17106596, 17381453, 17428836, 18024254, 18412859, 18950394, 18987669, 19175781, 19785089, 19793313, 20101161, 20230788, 20307501, 20412116, 20584891, 20846357, 21933663, 22011219, 22031297, 22592158, 22643125, 23447037, 23756814, 23797419, 23924173, 2394858, 24939841, 25229253, 25422938, 25575739, 25625422, 26831144, 27141831, 28635012, 29267468, 29742560, 30150638, 30287322, 30530766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis-Ichthyosis-Deafness Syndrome	Keratitis ichthyosis and deafness syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma hereditarium mutilans	Keratoderma Hereditarium Mutilans	Orphanet			★☆☆☆☆ Found in Text Mining only
Keratoderma with deafness	Keratoderma With Deafness	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	11493646, 12372058, 15668823, 18688874, 19939300, 20096356, 20583176, 20890442, 21040787, 24604124, 24945352, 24975403, 26763442, 28872160, 7514461, 9023700, 9856479		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	CTD_human_DG	16172043		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	BEFREE	30195761		★☆☆☆☆ Found in Text Mining only
KID syndrome	KID Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Knuckle pads, leuconychia and sensorineural deafness	Knuckle pads, deafness AND leukonychia syndrome	CLINVAR_DG	10376574, 10713883, 12172392, 17666888, 18294064, 9285800, 9328482, 9336442		★☆☆☆☆ Found in Text Mining only
Knuckle pads, leuconychia and sensorineural deafness	Knuckle pads, deafness AND leukonychia syndrome	ORPHANET_DG	15482471, 15952212, 22421650		★☆☆☆☆ Found in Text Mining only
Knuckle pads, leuconychia and sensorineural deafness	Knuckle pads, deafness AND leukonychia syndrome	GENOMICS_ENGLAND_DG	15482471, 24346921, 31160754		★☆☆☆☆ Found in Text Mining only
Knuckle pads, leuconychia and sensorineural deafness	Knuckle pads, deafness AND leukonychia syndrome	UNIPROT_DG	15482471, 15952212		★☆☆☆☆ Found in Text Mining only
Knuckle pads, leuconychia and sensorineural deafness	Knuckle pads, deafness AND leukonychia syndrome	BEFREE	19939300, 23675785		★☆☆☆☆ Found in Text Mining only
Knuckle pads, leuconychia and sensorineural deafness	Knuckle pads, deafness AND leukonychia syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	31871493	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	19047647, 20307501		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11576997, 15334670, 16075462		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15334670		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11576997		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	22498363		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15386363		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16567471	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	16941638	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29103018		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	16481813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11872627, 18191019, 21617344, 30542725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12557263, 14532970		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15386363, 18191019, 30845770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21388975, 28177904, 30410422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14719096, 16114058		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	7586191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11313783, 11779406, 18288642, 23579952, 31539120, 8187096		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18245526, 19326169, 23321642, 23579952, 30725231		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11872627		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11872627, 12042301, 16777986		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30204287		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	29267468		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17614106, 23321642		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	17614106		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	17614106, 37435067	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meleda Disease	Meleda Disease	CTD_human_DG	16172043		★☆☆☆☆ Found in Text Mining only
Meleda Disease	Meleda Disease	BEFREE	24604124		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	12484567		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26432548		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32400865	Associate	★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	15775754		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	8530067		★☆☆☆☆ Found in Text Mining only
Mutilating keratoderma	Mutilating Keratoderma	BEFREE	10369869, 11174420, 15140211, 16197390, 17106596, 17993581, 18688874, 20031451, 20854437, 23675785, 30565282		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mutilating keratoderma	Mutilating Keratoderma	UNIPROT_DG	10369869, 12668604, 15954104, 18688874		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mutilating keratoderma	Mutilating Keratoderma	CLINVAR_DG	10376574, 10713883, 12172392, 17666888, 18294064, 9285800, 9328482, 9336442		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mutilating keratoderma	Mutilating Keratoderma	GENOMICS_ENGLAND_DG	15482471, 24346921, 31160754		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mutilating keratoderma	Mutilating Keratoderma	ORPHANET_DG	20854437, 22960825		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mutilating keratoderma	Mutilating Keratoderma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26995693		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10545425, 10698257, 11779406, 11872627, 11872644, 12557263, 14719096, 15386363, 16207476, 16777986, 18191019, 18288642, 20372813, 21388975, 29103018, 29422613, 30542725, 31539120, 8391000		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10698257		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	29267468		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	30106187		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	10983956, 11313763, 12173596, 12522692, 14759569, 15113126, 18554165, 19929407, 20739942, 23510777, 24645897, 24793888, 25761933, 26783197, 28640090, 28734895, 28862181, 29542069, 30094485, 30235673, 30872718, 31389194		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26203858, 31485592		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30725231		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10049954, 10590915, 10646192, 10704187, 10982182, 10983956, 11074495, 11216656, 11216657, 11385713, 11551103, 11591486, 11992483, 12176179, 12352684, 12487079, 12522692, 12865758, 14520102, 14534413, 15028842, 15064611, 15235365, 15547422, 15547423, 15603707, 15638823, 15656949, 15700112, 15744158, 15841999, 15937416, 15996214, 16145690, 16300957, 16379542, 16380907, 16570074, 16575343, 16941638, 17253936, 17365058, 17473676, 17505205, 17581693, 18259073, 18294049, 18294064, 18554165, 18804553, 19072567, 19101659, 19157576, 19366456, 19371219, 19393408, 19715472, 19744334, 19814620, 19929407, 19929408, 19939300, 19941053, 20059378, 20073550, 20095872, 20096468, 20377502, 20563649, 20583176, 20593197, 20937258, 21122151, 21298213, 21366436, 21392827, 21484990, 21731760, 21825995, 21868108, 22103400, 22172221, 22288896, 22364789, 22903915, 23447037, 23504403, 23510777, 23640091, 23680645, 23826813, 24053799, 24256046, 24645897, 24691507, 24785695, 25162826, 25288386, 25393658, 25708704, 25761933, 26011067, 26059209, 26061264, 26075227, 26444186, 26783197, 27063752, 27068579, 27169813, 27246798, 27466889, 27481527, 27861301, 28198501, 28273078, 28322114, 28552523, 28603488, 28640090, 28779115, 29016196, 29097507, 29207085, 29575629, 29773520, 30169122, 30175840, 30816908, 31160754, 31200317, 31586237, 8530067, 9529365, 9600457		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	23127570		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	16648378	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26668150	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16647893		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31794425	Associate	★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	9023700		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratoderma with Deafness	Palmoplantar Keratoderma with Deafness	CLINVAR_DG	10376574, 10713883, 12172392, 17666888, 18294064, 9285800, 9328482, 9336442		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratoderma with Deafness	Palmoplantar Keratoderma with Deafness	UNIPROT_DG	10633135, 10757647, 12372058, 12668604, 15996214, 17993581, 9856479		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratoderma with Deafness	Palmoplantar Keratoderma with Deafness	ORPHANET_DG	10633135, 17993581		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratoderma with Deafness	Palmoplantar Keratoderma with Deafness	GENOMICS_ENGLAND_DG	15482471, 24346921, 31160754		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratoderma with Deafness	Palmoplantar Keratoderma with Deafness	BEFREE	17993581, 18787097, 19416251		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratoderma with Deafness	Palmoplantar Keratoderma with Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma-deafness syndrome	Palmoplantar Keratoderma with Deafness	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	10633135		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	LHGDN	17993581, 18787097		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21388975, 28177904, 30410422		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15502644		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15870276, 23363606	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28177904	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	18191019		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28212331		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	28222800	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	Pubtator	10807696	Associate	★☆☆☆☆ Found in Text Mining only
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	15482471		★☆☆☆☆ Found in Text Mining only
Porokeratotic eccrine ostial and dermal duct nevus	Porokeratotic Eccrine Ostial And Dermal Duct Nevus	ORPHANET_DG	22592158, 25692760, 26215685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratotic eccrine ostial and dermal duct nevus	Porokeratotic Eccrine Ostial And Dermal Duct Nevus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratotic eccrine ostial and dermal duct nevus	Porokeratotic Eccrine Ostial And Dermal Duct Nevus	BEFREE	25692760, 27087580, 29267468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prelingual Deafness	Deafness	BEFREE	10218527, 10607953, 11180233, 11551103, 11587277, 11698809, 11807148, 11874189, 11935342, 12111646, 12167443, 12176179, 12497637, 12792423, 12865758, 15305352, 15638823, 16258398, 17227867, 18274916, 18294064, 18758381, 19450429, 22142852, 22178340, 22292956, 22569142, 22925408, 9336442		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	16172043		★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	BEFREE	17671735, 22484064		★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Profound hearing impairment	Hearing Impairment	BEFREE	15954104, 20553101		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive hearing loss stapes fixation	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	14719096, 16114058		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	16114058		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14719096		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	GENOMICS_ENGLAND_DG	15757815		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	CTD_human_DG	20953187, 24212883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	20953187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	22298274	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	22890607, 24212883, 26104599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	23252691, 26104599		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Punctate epithelial keratitis	Punctate keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punctate keratitis	Punctate keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	20953187, 24212883		★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	22842402		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	22842402	Associate	★☆☆☆☆ Found in Text Mining only
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	BEFREE	23035047		★☆☆☆☆ Found in Text Mining only
Scarring alopecia	Alopecia	GENOMICS_ENGLAND_DG	15757815		★☆☆☆☆ Found in Text Mining only
Sclerodactyly	Sclerodactyly	BEFREE	27339777		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	10544226, 10596881, 10633135, 10830906, 10874298, 10903123, 11134236, 11174420, 11313763, 11354642, 11439000, 11603757, 11846738, 11960582, 11968091, 12064630, 12107817, 12121355, 12169891, 12172392, 12189487, 12562518, 12668604, 12885339, 14520102, 14676473, 14681041, 14691997, 14978038, 15064611, 15138772, 15337980, 15464308, 15577772, 15617546, 15633193, 15638823, 15775754, 15811717, 15832357, 15841999, 15857182, 15996214, 16015155, 16097006, 16172043, 16222667, 16280295, 16840571, 16952406, 17036313, 17276518, 17299707, 17455295, 17666888, 18412859, 18641518, 18688874, 18758381, 18787097, 18990456, 19235794, 19283857, 19413608, 19715470, 19723508, 19877196, 19887791, 20146813, 20201936, 20233142, 20234132, 20236118, 20381175, 20601923, 20829717, 20835527, 21298644, 21488715, 21586435, 21738759, 21989059, 22037723, 22103400, 22321824, 22364789, 22567152, 22668073, 23073770, 23442195, 23503914, 23640091, 23665763, 23668481, 23751281, 23797419, 23873582, 24080506, 24691507, 24774219, 24793888, 24804242, 24945352, 24975403, 25012701, 25229253, 25401782, 25583854, 25719458, 25885414, 26553399, 26743077, 27057829, 27177978, 27389523, 27501294, 27827000, 27861301, 28012523, 28271504, 28428247, 28717060, 28872160, 28917982, 29575629, 29665173, 29773520, 29926981, 30030956, 30146550, 30199819, 30531641, 30837189, 31246659, 31419744, 31472357, 7668291, 7881423, 8677023, 9139825, 9482292, 9529365		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	12189487, 15064611, 15274422, 15635064, 16650419, 16840571, 17299707, 17455295, 17568408, 17666888, 18324688, 18472371		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	15091236		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ 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	BEFREE	16650079, 20230788, 21868108, 22991996		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensory Disorders	Sensory Disorders	BEFREE	21776002		★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	15091236		★☆☆☆☆ Found in Text Mining only
Senter syndrome	Senter Syndrome	CLINVAR_DG	10376574, 10713883, 12172392, 17666888, 18294064, 9285800, 9328482, 9336442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senter syndrome	Senter Syndrome	UNIPROT_DG	11912510, 12548749, 12752120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senter syndrome	Senter Syndrome	BEFREE	12072059, 12752120, 15140211, 15633193, 15691545, 15823911, 16679758, 16885744, 17106596, 17381453, 18024254, 18412859, 18950394, 18987669, 19175781, 1951425, 19785089, 19793313, 20230788, 20307501, 20412116, 20846357, 21933663, 22011219, 22592158, 22643125, 23447037, 23756814, 23797419, 23924173, 24939841, 25229253, 25575739, 25625422, 26831144, 27141831, 28635012, 29267468, 29742560, 30150638, 30287322, 30530766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senter syndrome	Senter Syndrome	GENOMICS_ENGLAND_DG	15337980, 31160754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senter syndrome	Senter Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senter syndrome	Senter Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	8530067		★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	18787097, 26831144	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	14681040, 15245427, 18787097, 23035047, 25153233, 26763442, 28158657, 28428247	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	16091133	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	22592158, 28158657		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	7586191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep apnea	Pubtator	25422938	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32243356	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	BEFREE	16154643		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15386363, 20829717		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19326169		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30041406		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20372813		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18411733		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	15775754		★☆☆☆☆ Found in Text Mining only
Temporal hypotrichosis	Temporal hypotrichosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	18191019		★☆☆☆☆ Found in Text Mining only
Trichiasis	Trichiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29422613		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18288642, 23579952, 36451132	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	19186249, 20613545, 22842402		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	22842402, 26429191, 31985074	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11379007		★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	21465647	Associate	★☆☆☆☆ Found in Text Mining only
Vohwinkel syndrome	Vohwinkel syndrome	Pubtator	15140211, 15482471, 17106596, 20031451, 24346921	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	22569142, 29287868		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	32199281	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	29287868		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	22196401		★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	BEFREE	22196401		★☆☆☆☆ Found in Text Mining only
Xeroderma	Xeroderma	CTD_human_DG	16172043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX males	XX Males	BEFREE	17426450		★☆☆☆☆ Found in Text Mining only