GJB6 (gap junction protein beta 6)

Gene

• Entrez ID: 10804
• Gene name: Gap junction protein beta 6
• Gene symbol: GJB6
• Synonyms (NCBI Gene): CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
• Chromosome: 13
• Chromosome location: 13q12.11
• Summary: Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extrac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937872	G>A	Pathogenic	Missense variant, coding sequence variant
rs35002004	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs104894414	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894415	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894416	A>T	Pathogenic	Missense variant, coding sequence variant
rs150075979	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs371123633	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs397517206	CG>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs398124236	->T	Pathogenic	Coding sequence variant, frameshift variant
rs398124237	->T	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs756597598	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770612890	C>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs772862268	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs780320724	G>A	Pathogenic	Coding sequence variant, missense variant
rs1566538321	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017331	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IDA	12767933
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005884	Component	Actin filament	IMP	19285977
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	IMP	19285977
GO:0005921	Component	Gap junction	NAS	12767933
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	10610709
GO:0008017	Function	Microtubule binding	IDA	19285977
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IMP	19285977
GO:0016264	Process	Gap junction assembly	NAS	12767933
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042471	Process	Ear morphogenesis	IEA
GO:0048487	Function	Beta-tubulin binding	IDA	19285977
GO:0048839	Process	Inner ear development	IEA
GO:0051015	Function	Actin filament binding	IDA	19285977
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0055085	Process	Transmembrane transport	IDA	12767933
GO:0070161	Component	Anchoring junction	IEA
GO:0071333	Process	Cellular response to glucose stimulus	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

Other IDs

• MIM: 604418
• HGNC: 4288
• e!Ensembl: ENSG00000121742

Protein

• UniProt ID: O95452
• Protein name: Gap junction beta-6 protein (Connexin-30) (Cx30)
• Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
• Family and domains:

  Pfam

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

• Sequence:

  MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGC
  KNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIED
  IKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDC
  FISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
  QNEMNELISDSGQNAITGFPS

• Sequence length: 261

Pathways

Reactome:

Gap junction assembly

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
Autosomal dominant nonsyndromic hearing loss 3B	Pathogenic	rs104894414, rs104894415, rs28937872	RCV000088666 RCV000645727 RCV000798432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic	rs104894415, rs28937872	RCV000645727 RCV000798432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 1B	Pathogenic	rs104894415, rs28937872	RCV000645727 RCV000798432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GJB6-related disorder	Pathogenic	rs104894415	RCV003335016	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hidrotic ectodermal dysplasia syndrome	Pathogenic; Likely pathogenic	rs104894415, rs28937872, rs104894416, rs1869351345	RCV000005882 RCV000005883 RCV000005886 RCV003985842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Deafness	Likely pathogenic	rs1566538321	RCV001844222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked mixed hearing loss with perilymphatic gusher	Pathogenic	rs28937872	RCV002504751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ 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	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLOUSTON SYNDROME	—	ClinGen, GWAS catalog, HPO ClinGen, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 3B	—	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 1A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 1B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, X-LINKED 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis and erythrokeratoderma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE HEARING LOSS STAPES FIXATION	—	CTD, Disgenet CTD, 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25861020		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30899365		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia universalis	Pubtator	15140211	Associate	★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	18816645		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrichia	Atrichia	BEFREE	15140211		★☆☆☆☆ 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
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	23405946		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25383624		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17695503	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31846200		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27228968		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	19877196		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	16228229, 18207244, 23405946, 27411570		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28865023		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21406965, 32170581	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	12775564		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	15140211		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ 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
Craniosynostosis	Craniosynostosis	BEFREE	26919292		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	11807148, 15365987, 16773579, 19265722, 21465647, 22389666, 22785241, 23430402, 26075227, 32067424, 33530996, 35062939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness Autosomal Dominant 1	Deafness	Pubtator	16648378	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 3B	Deafness	CLINVAR_DG	10471490, 11017065, 12419304, 12788524, 14708603, 15213106, 15769851, 17259707, 23863883, 23926005, 23981984, 24514865, 24522190, 24685692, 26551294, 27137747, 27817781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 3B	Deafness	UNIPROT_DG	10471490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 3B	Deafness	GENOMICS_ENGLAND_DG	9799458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 3B	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	15464308, 16941638, 23434199, 24807585		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	CLINVAR_DG	11017065, 12419304, 12788524, 14708603, 15213106, 15769851, 23863883, 23926005, 23981984, 24514865, 24522190, 24685692, 26551294, 27137747, 27817781		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	GENOMICS_ENGLAND_DG	9799458		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 1b	Deafness	GENOMICS_ENGLAND_DG	9799458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 1b	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 1b	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)	DEAFNESS, DIGENIC	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)	DEAFNESS, DIGENIC	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11933201, 12419304, 24522190		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26490746		★☆☆☆☆ 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
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	11874494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	11874494, 14708603, 15140211, 15245427, 25575739, 30043857, 32843087	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	12788524, 27137747		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	12788524, 27137747		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	12788524, 27137747		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	12788524, 27137747		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27411570		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25155356		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25155356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	28875331, 30280947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19528455	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	14681040, 16380907, 17615163, 18585793, 20096356, 20442751, 21731760, 21738759, 22106692, 22281206, 22617145, 24785695, 25528277, 26896187, 29926981, 31731535, 31846914, 32067424, 33096615, 33530996, 33839059, 34042254, 35062939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 21254920, 22785241	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	30559251		★☆☆☆☆ 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
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	CLINGEN_DG	10471490, 11017065, 11874494, 15140211, 17259707, 18717672, 19416251, 23219093, 24522190, 25808784, 26620415, 27137747		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	UNIPROT_DG	11017065, 11874494		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	CLINVAR_DG	11017065, 12419304, 12788524, 14708603, 15213106, 15769851, 16950989, 20536673, 23219093, 23863883, 23926005, 23981984, 24514865, 24522190, 24685692, 25262649, 26551294, 27137747, 27817781		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	ORPHANET_DG	11017065, 11874494		★☆☆☆☆ Found in Text Mining only
Hidrotic ectodermal dysplasia	Hidrotic Ectodermal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	BEFREE	11874494, 12788524, 14708603, 15140211, 15245427, 19318801, 23219093, 23675785, 24685692, 25575739, 25808784, 27137747, 30559251		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	11874494, 23981984, 27137747, 9799458		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29038048		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	24702986		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	27409001	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25155356, 27411570		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25101702		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	25575739		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	Pubtator	27409001	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis Ichthyosis Deafness Syndrome	Keratitis ichthyosis deafness syndrome	Pubtator	15140211, 27409001	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis-Ichthyosis-Deafness Syndrome	Keratitis ichthyosis and deafness syndrome	BEFREE	15140211, 25625422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis-Ichthyosis-Deafness Syndrome	Keratitis ichthyosis and deafness syndrome	ORPHANET_DG	15140211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	19416251, 20096356, 29267478		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
KID syndrome	KID Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	19047647, 29911391, 31421828		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12731087		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	16941638	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25155356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25383624		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21116114		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30717194		★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	22281206		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25101702, 30464764		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	8530067		★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	22281206		★☆☆☆☆ 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	21116114, 21612405, 25155356, 28875331, 31248124		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	14759569, 18554165, 23510777		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10610709, 11807148, 12522692, 12865758, 15028842, 15064611, 15744158, 17253936, 18294049, 18797288, 19371219, 19393408, 19814620, 20563649, 20583176, 21731760, 22103400, 22617145, 23510777, 24785695, 25288386, 26075227, 26444186, 8530067, 9529365		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	BEFREE	24702986		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	16648378		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	16648378	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	16648378	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	GENOMICS_ENGLAND_DG	11874494		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30103794		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	BEFREE	11807148, 17227867, 19450429, 22142852, 22292956		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive hearing loss stapes fixation	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	12064630, 12885339, 15464308, 15638823, 16222667, 16840571, 17666888, 19877196, 20233142, 20835527, 22103400, 22617145, 22785241, 23751281, 24774219, 27177978, 28012540, 30837189		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	17666888		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senter syndrome	Senter Syndrome	BEFREE	15140211, 25625422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senter syndrome	Senter Syndrome	ORPHANET_DG	15140211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	27409001	Associate	★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	8530067		★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	15140211		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21116114		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	32170581	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	29054607	Associate	★☆☆☆☆ Found in Text Mining only