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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1258
Gene name	Cyclic nucleotide gated channel subunit beta 1
Gene symbol	CNGB1
Synonyms (NCBI Gene)	CNCG2CNCG3LCNCG4CNG4CNGB1BGAR1GARPGARP2RCNC2RCNCbRCNCbetaRP45
Chromosome	16
Chromosome location	16q21
Summary	In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta,

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SNP ID	Visualize variation	Clinical significance	Consequence
rs7190978	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant
rs121918532	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853902	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs189234741	C>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs200963831	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs201162411	T>A	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs201553871	G>C	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs372504780	G>A	Uncertain-significance, pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs527236060	C>G,T	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs527236061	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs747258045	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs749199721	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs750620302	G>A,T	Likely-pathogenic	Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs753353134	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs754786301	G>A,C	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs756806434	->CACC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs760373259	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs760430056	C>-,CC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs770011113	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs775887058	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs778884136	CTCA>-	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs797044693	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853394	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs888090139	C>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1028371920	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064794342	TCGT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064794573	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1231250334	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1286857064	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1352458826	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1365926616	ACCACGTTGGCCGTGCGCC>-,ACCACGTTGGCCGTGCGCCACCACGTTGGCCGTGCGCC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1420628245	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555488069	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555488573	G>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555493707	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1567360969	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596974169	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596976316	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596996962	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, 5 prime UTR variant
rs1596997875	T>A,G	Pathogenic	Genic downstream transcript variant, splice acceptor variant

104

Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017103	hsa-miR-335-5p	Microarray	18185580
MIRT045902	hsa-miR-125b-5p	CLASH	23622248
MIRT525339	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT525338	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT525337	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT525336	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT525335	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT525334	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT525333	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT525332	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT525331	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT525330	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT525329	hsa-miR-203b-3p	PAR-CLIP	22012620
MIRT525328	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT525327	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT525339	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT525338	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT525337	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT525336	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT525335	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT525334	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT525333	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT525332	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT525331	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT525330	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT525329	hsa-miR-203b-3p	PAR-CLIP	22012620
MIRT525328	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT525327	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT899547	hsa-miR-1909	CLIP-seq
MIRT899548	hsa-miR-34c-3p	CLIP-seq
MIRT899549	hsa-miR-3591-5p	CLIP-seq
MIRT899550	hsa-miR-3646	CLIP-seq
MIRT899551	hsa-miR-3678-3p	CLIP-seq
MIRT899552	hsa-miR-3681	CLIP-seq
MIRT899553	hsa-miR-3944-5p	CLIP-seq
MIRT899554	hsa-miR-3974	CLIP-seq
MIRT899555	hsa-miR-409-3p	CLIP-seq
MIRT899556	hsa-miR-4272	CLIP-seq
MIRT899557	hsa-miR-4460	CLIP-seq
MIRT899558	hsa-miR-4705	CLIP-seq
MIRT899559	hsa-miR-4727-3p	CLIP-seq
MIRT899560	hsa-miR-576-3p	CLIP-seq
MIRT1966833	hsa-miR-106a	CLIP-seq
MIRT1966834	hsa-miR-106b	CLIP-seq
MIRT1966835	hsa-miR-150	CLIP-seq
MIRT1966836	hsa-miR-17	CLIP-seq
MIRT1966837	hsa-miR-1976	CLIP-seq
MIRT1966838	hsa-miR-20a	CLIP-seq
MIRT1966839	hsa-miR-20b	CLIP-seq
MIRT1966840	hsa-miR-302a	CLIP-seq
MIRT1966841	hsa-miR-302b	CLIP-seq
MIRT1966842	hsa-miR-302c	CLIP-seq
MIRT1966843	hsa-miR-302d	CLIP-seq
MIRT1966844	hsa-miR-302e	CLIP-seq
MIRT1966845	hsa-miR-372	CLIP-seq
MIRT1966846	hsa-miR-373	CLIP-seq
MIRT1966847	hsa-miR-4283	CLIP-seq
MIRT1966848	hsa-miR-4437	CLIP-seq
MIRT1966849	hsa-miR-4438	CLIP-seq
MIRT1966850	hsa-miR-4508	CLIP-seq
MIRT1966851	hsa-miR-4722-3p	CLIP-seq
MIRT1966852	hsa-miR-4731-5p	CLIP-seq
MIRT1966853	hsa-miR-5095	CLIP-seq
MIRT1966854	hsa-miR-512-3p	CLIP-seq
MIRT1966855	hsa-miR-519d	CLIP-seq
MIRT1966856	hsa-miR-520a-3p	CLIP-seq
MIRT1966857	hsa-miR-520b	CLIP-seq
MIRT1966858	hsa-miR-520c-3p	CLIP-seq
MIRT1966859	hsa-miR-520d-3p	CLIP-seq
MIRT1966860	hsa-miR-520e	CLIP-seq
MIRT1966861	hsa-miR-520g	CLIP-seq
MIRT1966862	hsa-miR-520h	CLIP-seq
MIRT1966863	hsa-miR-93	CLIP-seq
MIRT1966833	hsa-miR-106a	CLIP-seq
MIRT1966834	hsa-miR-106b	CLIP-seq
MIRT1966835	hsa-miR-150	CLIP-seq
MIRT1966836	hsa-miR-17	CLIP-seq
MIRT1966837	hsa-miR-1976	CLIP-seq
MIRT1966838	hsa-miR-20a	CLIP-seq
MIRT1966839	hsa-miR-20b	CLIP-seq
MIRT1966840	hsa-miR-302a	CLIP-seq
MIRT1966841	hsa-miR-302b	CLIP-seq
MIRT1966842	hsa-miR-302c	CLIP-seq
MIRT1966843	hsa-miR-302d	CLIP-seq
MIRT1966844	hsa-miR-302e	CLIP-seq
MIRT1966845	hsa-miR-372	CLIP-seq
MIRT1966846	hsa-miR-373	CLIP-seq
MIRT1966848	hsa-miR-4437	CLIP-seq
MIRT1966849	hsa-miR-4438	CLIP-seq
MIRT2202603	hsa-miR-4713-5p	CLIP-seq
MIRT1966851	hsa-miR-4722-3p	CLIP-seq
MIRT1966852	hsa-miR-4731-5p	CLIP-seq
MIRT1966853	hsa-miR-5095	CLIP-seq
MIRT1966854	hsa-miR-512-3p	CLIP-seq
MIRT1966855	hsa-miR-519d	CLIP-seq
MIRT1966856	hsa-miR-520a-3p	CLIP-seq
MIRT1966857	hsa-miR-520b	CLIP-seq
MIRT1966858	hsa-miR-520c-3p	CLIP-seq
MIRT1966859	hsa-miR-520d-3p	CLIP-seq
MIRT1966860	hsa-miR-520e	CLIP-seq
MIRT1966861	hsa-miR-520g	CLIP-seq
MIRT1966862	hsa-miR-520h	CLIP-seq
MIRT2202604	hsa-miR-532-3p	CLIP-seq
MIRT1966863	hsa-miR-93	CLIP-seq

Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001895	Process	Retina homeostasis	IBA
GO:0001895	Process	Retina homeostasis	IMP	15557452
GO:0005221	Function	Intracellularly cyclic nucleotide-activated monoatomic cation channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IBA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IDA	34699778
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IEA
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IBA
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IDA	24164424, 34699778
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20890309
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IDA	24164424
GO:0006813	Process	Potassium ion transport	ISS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0007601	Process	Visual perception	TAS	7682292
GO:0007602	Process	Phototransduction	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	7682292
GO:0016020	Component	Membrane	IEA
GO:0017071	Component	Intracellular cyclic nucleotide activated cation channel complex	IBA
GO:0017071	Component	Intracellular cyclic nucleotide activated cation channel complex	IEA
GO:0021630	Process	Olfactory nerve maturation	IEA
GO:0021630	Process	Olfactory nerve maturation	ISS
GO:0030552	Function	CAMP binding	IDA	34699778
GO:0030552	Function	CAMP binding	IEA
GO:0030553	Function	CGMP binding	IBA
GO:0030553	Function	CGMP binding	IDA	24164424, 34699778
GO:0030553	Function	CGMP binding	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0033365	Process	Protein localization to organelle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043855	Function	Cyclic nucleotide-activated monoatomic ion channel activity	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	15557452
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0051899	Process	Membrane depolarization	IEA
GO:0051899	Process	Membrane depolarization	ISS
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0098804	Component	Non-motile cilium membrane	IEA
GO:0098804	Component	Non-motile cilium membrane	ISS
GO:0120200	Component	Rod photoreceptor outer segment	IEA
GO:0120200	Component	Rod photoreceptor outer segment	ISS
GO:1902495	Component	Transmembrane transporter complex	IDA	24164424
GO:1990834	Process	Response to odorant	IEA
GO:1990834	Process	Response to odorant	ISS

MIM	HGNC	e!Ensembl
600724	2151	ENSG00000070729

Q14028

Protein name

Cyclic nucleotide-gated channel beta-1 (CNG channel beta-1) (Cyclic nucleotide-gated cation channel 4) (CNG channel 4) (CNG-4) (CNG4) (Cyclic nucleotide-gated cation channel gamma) (Cyclic nucleotide-gated cation channel modulatory subunit) (Glutamic acid

Protein function

Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel o

PDB

7RH9 , 7RHG , 7RHH , 7RHI , 7RHJ , 7RHK , 7RHL , 8DGH , 8DGK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00027	cNMP_binding	980 → 1069	Cyclic nucleotide-binding domain	Domain

Sequence

MLGWVQRVLPQPPGTPRKTKMQEEEEVEPEPEMEAEVEPEPNPEEAETESESMPPEESFK
EEEVAVADPSPQETKEAALTSTISLRAQGAEISEMNSPSRRVLTWLMKGVEKVIPQPVHS
ITEDPAQILGHGSTGDTGCTDEPNEALEAQDTRPGLRLLLWLEQNLERVLPQPPKSSEVW
RDEPAVATGAASDPAPPGRPQEMGPKLQARETPSLPTPIPLQPKEEPKEAPAPEPQPGSQ
AQTSSLPPTRDPARLVAWVLHRLEMALPQPVLHGKIGEQEPDSPGICDVQTISILPGGQV
EPDLVLEEVEPPWEDAHQDVSTSPQGTEVVPAYEEENKAVEKMPRELSRIEEEKEDEEEE
EEEEEEEEEEEVTEVLLDSCVVSQVGVGQSEEDGTRPQSTSDQKLWEEVGEEAKKEAEEK
AKEEAEEVAEEEAEKEPQDWAETKEEPEAEAEAASSGVPATKQHPEVQVEDTDADSCPLM
AEENPPSTVLPPPSPAKSDTLIVPSSASGTHRKKLPSEDDEAEELKALSPAESPVVAWSD
PTTPKDTDGQDRAASTASTNSAIINDRLQELVKLFKERTEKVKEKLIDPDVTSDEESPKP
SPAKKAPEPAPDTKPAEAEPVEEEHYCDMLCCKFKHRPWKKYQFPQSIDPLTNLMYVLWL
FFVVMAWNWNCWLIPVRWAFPYQTPDNIHHWLLMDYLCDLIYFLDITVFQTRLQFVRGGD
IITDKKDMRNNYLKSRRFKMDLLSLLPLDFLYLKVGVNPLLRLPRCLKYMAFFEFNSRLE
SILSKAYVYRVIRTTAYLLYSLHLNSCLYYWASAYQGLGSTHWVYDGVGNSYIRCYYFAV
KTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDST
VKYMNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKV
ALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGPDGKSVLV
TLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHYPESQKLLRKKA
RRMLRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELA
ALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQHTHPKEAATDPPAPRTPPEPPGSPPSSP
PPASLGRPEGEEEGPAEPEEHSVRICMSPGPEPGEQILSVKMPEEREEKAE

Sequence length

1251

Interactions

View interactions

	KEGG		Reactome
	cGMP-PKG signaling pathway cAMP signaling pathway Olfactory transduction Phototransduction		Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade VxPx cargo-targeting to cilium

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

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs761839551, rs771833874	RCV001257780 RCV001257779	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNGB1-related disorder	Pathogenic; Likely pathogenic	rs878853394, rs770011113	RCV004730910 RCV004758021	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNGB1-related retinopathy	Likely pathogenic; Pathogenic	rs1064794342	RCV005355941	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2149366536, rs2544630794, rs760430056, rs878853394, rs753353134, rs1959981166, rs1960498164, rs2544630752, rs2544633545, rs2544676588, rs8055343, rs749199721, rs770011113, rs756806434, rs1352458826 View all (11 more)	RCV004815524 RCV003889163 RCV000225473 RCV000225584 RCV001074987 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs201286463, rs1429797650, rs527236060, rs527236061, rs760430056, rs878853394, rs2544620357, rs1377594602, rs749199721, rs770011113, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826 View all (18 more)	RCV004770069 RCV003323871 RCV000132646 RCV000132647 RCV001723813 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 45	Likely pathogenic; Pathogenic	rs201286463, rs368329828, rs2149358592, rs2149359022, rs2149359033, rs772330738, rs755036276, rs750222574, rs2149372033, rs2149358455, rs760430056, rs865818297, rs756239195, rs1427995653, rs375519490 View all (38 more)	RCV005419089 RCV005014483 RCV001376232 RCV001376253 RCV001376251 View all (49 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMBLYOPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 49	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa, Recessive	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (61)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anosmia	Anosmia	Pubtator	29800053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21907864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28001437, 29618665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29879453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35668376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23423978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28261204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17143621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35151267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16079167, 18226556, 18334578, 20407468, 20707788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	27448748, 27884290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27448748, 27884290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hibernoma	Hibernoma	BEFREE	12800150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29879453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28261204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28001437, 28763790, 29458436, 29618665, 30674536		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27248166, 30443770		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30219744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17143621, 27248166, 30093071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	34064005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30443770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	31033124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	26352687, 29800053, 37107588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	25775262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	11379879		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20126465, 23201897, 23977260, 28056120, 29202463, 29354133, 29800053, 30451805		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	20126465, 24339724, 29800053, 29912909, 31960602, 33465333, 35743231, 35814500, 37107588	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	21147909, 21987686, 25943428, 25999674, 28056120, 30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 45	Retinitis Pigmentosa	UNIPROT_DG	11379879		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 45	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 45	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 45	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	Rhyns syndrome	Pubtator	29800053, 37107588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	BEFREE	9386826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	30624672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CNGB1 (cyclic nucleotide gated channel subunit beta 1)