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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55975
Gene name	Kelch like family member 7
Gene symbol	KLHL7
Synonyms (NCBI Gene)	CISS3KLHL6PERCHINGSBBI26
Chromosome	7
Chromosome location	7p15.3
Summary	This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77078070	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs137853112	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs137853113	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs137853114	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs746612410	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs780705654	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs879255556	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs879255557	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs879255558	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs943339467	C>T	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1182983579	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554286093	GTT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, inframe deletion
rs1554286384	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554289078	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554293056	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1554293083	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1583657698	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

252

Show/Hide all (252)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019844	hsa-miR-375	Microarray	20215506
MIRT048153	hsa-miR-196a-5p	CLASH	23622248
MIRT047233	hsa-miR-181b-5p	CLASH	23622248
MIRT702349	hsa-miR-374c-3p	HITS-CLIP	23313552
MIRT702348	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT702347	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT702346	hsa-miR-4677-3p	HITS-CLIP	23313552
MIRT702345	hsa-miR-4679	HITS-CLIP	23313552
MIRT702344	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT702343	hsa-miR-218-1-3p	HITS-CLIP	23313552
MIRT702342	hsa-miR-659-3p	HITS-CLIP	23313552
MIRT702340	hsa-miR-4635	HITS-CLIP	23313552
MIRT702341	hsa-miR-4680-5p	HITS-CLIP	23313552
MIRT702339	hsa-miR-6790-3p	HITS-CLIP	23313552
MIRT702338	hsa-miR-6821-3p	HITS-CLIP	23313552
MIRT702337	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT702336	hsa-miR-378a-5p	HITS-CLIP	23313552
MIRT702335	hsa-miR-7158-3p	HITS-CLIP	23313552
MIRT702334	hsa-miR-203b-3p	HITS-CLIP	23313552
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT641028	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT641027	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT641026	hsa-miR-4474-5p	HITS-CLIP	23824327
MIRT641025	hsa-miR-5691	HITS-CLIP	23824327
MIRT641024	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636471	hsa-miR-4284	HITS-CLIP	23824327
MIRT641027	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT641026	hsa-miR-4474-5p	HITS-CLIP	27418678
MIRT702349	hsa-miR-374c-3p	HITS-CLIP	23313552
MIRT702348	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT702347	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT702346	hsa-miR-4677-3p	HITS-CLIP	23313552
MIRT702345	hsa-miR-4679	HITS-CLIP	23313552
MIRT702344	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT702343	hsa-miR-218-1-3p	HITS-CLIP	23313552
MIRT702342	hsa-miR-659-3p	HITS-CLIP	23313552
MIRT702340	hsa-miR-4635	HITS-CLIP	23313552
MIRT702341	hsa-miR-4680-5p	HITS-CLIP	23313552
MIRT702339	hsa-miR-6790-3p	HITS-CLIP	23313552
MIRT702338	hsa-miR-6821-3p	HITS-CLIP	23313552
MIRT702337	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT702336	hsa-miR-378a-5p	HITS-CLIP	23313552
MIRT702335	hsa-miR-7158-3p	HITS-CLIP	23313552
MIRT702334	hsa-miR-203b-3p	HITS-CLIP	23313552
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT641028	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT641027	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT641026	hsa-miR-4474-5p	HITS-CLIP	23824327
MIRT641025	hsa-miR-5691	HITS-CLIP	23824327
MIRT641024	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636471	hsa-miR-4284	HITS-CLIP	23824327
MIRT1098825	hsa-miR-141	CLIP-seq
MIRT1098826	hsa-miR-200a	CLIP-seq
MIRT1098827	hsa-miR-3121-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT1098829	hsa-miR-3182	CLIP-seq
MIRT1098830	hsa-miR-3647-3p	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT1098832	hsa-miR-3973	CLIP-seq
MIRT1098833	hsa-miR-451	CLIP-seq
MIRT1098834	hsa-miR-505	CLIP-seq
MIRT1098835	hsa-miR-518d-5p	CLIP-seq
MIRT1098836	hsa-miR-519b-5p	CLIP-seq
MIRT1098837	hsa-miR-519c-5p	CLIP-seq
MIRT1098838	hsa-miR-520c-5p	CLIP-seq
MIRT1098839	hsa-miR-520g	CLIP-seq
MIRT1098840	hsa-miR-520h	CLIP-seq
MIRT1098841	hsa-miR-526a	CLIP-seq
MIRT1098842	hsa-miR-144	CLIP-seq
MIRT1098843	hsa-miR-3159	CLIP-seq
MIRT1098844	hsa-miR-1298	CLIP-seq
MIRT1098825	hsa-miR-141	CLIP-seq
MIRT1098826	hsa-miR-200a	CLIP-seq
MIRT1098845	hsa-miR-2277-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT1098846	hsa-miR-3908	CLIP-seq
MIRT1098832	hsa-miR-3973	CLIP-seq
MIRT1098847	hsa-miR-4504	CLIP-seq
MIRT1098848	hsa-miR-4666-5p	CLIP-seq
MIRT1098834	hsa-miR-505	CLIP-seq
MIRT1098839	hsa-miR-520g	CLIP-seq
MIRT1098840	hsa-miR-520h	CLIP-seq
MIRT1098849	hsa-miR-542-3p	CLIP-seq
MIRT1098850	hsa-miR-758	CLIP-seq
MIRT1098850	hsa-miR-758	CLIP-seq
MIRT2258071	hsa-miR-193a-5p	CLIP-seq
MIRT2258072	hsa-miR-217	CLIP-seq
MIRT2258073	hsa-miR-3158-5p	CLIP-seq
MIRT2258074	hsa-miR-432	CLIP-seq
MIRT2258075	hsa-miR-4417	CLIP-seq
MIRT2258076	hsa-miR-4418	CLIP-seq
MIRT2258077	hsa-miR-4420	CLIP-seq
MIRT2258078	hsa-miR-509-3-5p	CLIP-seq
MIRT2258079	hsa-miR-509-5p	CLIP-seq
MIRT2258080	hsa-miR-541	CLIP-seq
MIRT2258081	hsa-miR-637	CLIP-seq
MIRT2258082	hsa-miR-654-5p	CLIP-seq
MIRT2452693	hsa-miR-3136-5p	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT2452694	hsa-miR-4439	CLIP-seq
MIRT2452695	hsa-miR-4513	CLIP-seq
MIRT2452696	hsa-miR-943	CLIP-seq
MIRT2559009	hsa-miR-1271	CLIP-seq
MIRT2559010	hsa-miR-129-5p	CLIP-seq
MIRT2559011	hsa-miR-1323	CLIP-seq
MIRT2559012	hsa-miR-149	CLIP-seq
MIRT2559013	hsa-miR-182	CLIP-seq
MIRT2559014	hsa-miR-1825	CLIP-seq
MIRT2559015	hsa-miR-2113	CLIP-seq
MIRT2559016	hsa-miR-3064-5p	CLIP-seq
MIRT1098827	hsa-miR-3121-3p	CLIP-seq
MIRT2452693	hsa-miR-3136-5p	CLIP-seq
MIRT2559017	hsa-miR-3140-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT2559018	hsa-miR-3163	CLIP-seq
MIRT2559019	hsa-miR-3168	CLIP-seq
MIRT1098829	hsa-miR-3182	CLIP-seq
MIRT2559020	hsa-miR-320e	CLIP-seq
MIRT2559021	hsa-miR-34b	CLIP-seq
MIRT1098830	hsa-miR-3647-3p	CLIP-seq
MIRT2559022	hsa-miR-3662	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT2559023	hsa-miR-3672	CLIP-seq
MIRT2559024	hsa-miR-4263	CLIP-seq
MIRT2559025	hsa-miR-433	CLIP-seq
MIRT2258077	hsa-miR-4420	CLIP-seq
MIRT2452694	hsa-miR-4439	CLIP-seq
MIRT2559026	hsa-miR-4502	CLIP-seq
MIRT1098833	hsa-miR-451	CLIP-seq
MIRT2452695	hsa-miR-4513	CLIP-seq
MIRT2559027	hsa-miR-4639-3p	CLIP-seq
MIRT2559028	hsa-miR-4662a-3p	CLIP-seq
MIRT2559029	hsa-miR-4694-3p	CLIP-seq
MIRT2559030	hsa-miR-4727-5p	CLIP-seq
MIRT2559031	hsa-miR-4760-3p	CLIP-seq
MIRT2559032	hsa-miR-4769-3p	CLIP-seq
MIRT2559033	hsa-miR-4778-5p	CLIP-seq
MIRT2559034	hsa-miR-4794	CLIP-seq
MIRT2559035	hsa-miR-485-3p	CLIP-seq
MIRT2559036	hsa-miR-509-3p	CLIP-seq
MIRT1098835	hsa-miR-518d-5p	CLIP-seq
MIRT1098836	hsa-miR-519b-5p	CLIP-seq
MIRT1098837	hsa-miR-519c-5p	CLIP-seq
MIRT1098838	hsa-miR-520c-5p	CLIP-seq
MIRT2559037	hsa-miR-520d-5p	CLIP-seq
MIRT2559038	hsa-miR-520f	CLIP-seq
MIRT2559039	hsa-miR-524-5p	CLIP-seq
MIRT1098841	hsa-miR-526a	CLIP-seq
MIRT2559040	hsa-miR-526b	CLIP-seq
MIRT2559041	hsa-miR-539	CLIP-seq
MIRT2559042	hsa-miR-548g	CLIP-seq
MIRT2559043	hsa-miR-548o	CLIP-seq
MIRT2559044	hsa-miR-576-5p	CLIP-seq
MIRT2559045	hsa-miR-595	CLIP-seq
MIRT2559046	hsa-miR-610	CLIP-seq
MIRT1098850	hsa-miR-758	CLIP-seq
MIRT2452696	hsa-miR-943	CLIP-seq
MIRT2559047	hsa-miR-96	CLIP-seq
MIRT2559009	hsa-miR-1271	CLIP-seq
MIRT2559010	hsa-miR-129-5p	CLIP-seq
MIRT2683624	hsa-miR-1303	CLIP-seq
MIRT2559011	hsa-miR-1323	CLIP-seq
MIRT2559012	hsa-miR-149	CLIP-seq
MIRT2683625	hsa-miR-154	CLIP-seq
MIRT2559013	hsa-miR-182	CLIP-seq
MIRT2559014	hsa-miR-1825	CLIP-seq
MIRT2683626	hsa-miR-186	CLIP-seq
MIRT2683627	hsa-miR-2052	CLIP-seq
MIRT2559016	hsa-miR-3064-5p	CLIP-seq
MIRT1098827	hsa-miR-3121-3p	CLIP-seq
MIRT2452693	hsa-miR-3136-5p	CLIP-seq
MIRT2559017	hsa-miR-3140-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT2559018	hsa-miR-3163	CLIP-seq
MIRT2559019	hsa-miR-3168	CLIP-seq
MIRT1098829	hsa-miR-3182	CLIP-seq
MIRT2683628	hsa-miR-330-3p	CLIP-seq
MIRT1098830	hsa-miR-3647-3p	CLIP-seq
MIRT2559022	hsa-miR-3662	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT2559023	hsa-miR-3672	CLIP-seq
MIRT2683629	hsa-miR-3690	CLIP-seq
MIRT2683630	hsa-miR-4254	CLIP-seq
MIRT2559024	hsa-miR-4263	CLIP-seq
MIRT2683631	hsa-miR-4307	CLIP-seq
MIRT2559025	hsa-miR-433	CLIP-seq
MIRT2258077	hsa-miR-4420	CLIP-seq
MIRT2452694	hsa-miR-4439	CLIP-seq
MIRT2683632	hsa-miR-4475	CLIP-seq
MIRT2559026	hsa-miR-4502	CLIP-seq
MIRT1098833	hsa-miR-451	CLIP-seq
MIRT2452695	hsa-miR-4513	CLIP-seq
MIRT2559027	hsa-miR-4639-3p	CLIP-seq
MIRT2559028	hsa-miR-4662a-3p	CLIP-seq
MIRT2683633	hsa-miR-4668-5p	CLIP-seq
MIRT2559029	hsa-miR-4694-3p	CLIP-seq
MIRT2559030	hsa-miR-4727-5p	CLIP-seq
MIRT2559031	hsa-miR-4760-3p	CLIP-seq
MIRT2559032	hsa-miR-4769-3p	CLIP-seq
MIRT2559033	hsa-miR-4778-5p	CLIP-seq
MIRT2559034	hsa-miR-4794	CLIP-seq
MIRT2559035	hsa-miR-485-3p	CLIP-seq
MIRT1098835	hsa-miR-518d-5p	CLIP-seq
MIRT1098836	hsa-miR-519b-5p	CLIP-seq
MIRT1098837	hsa-miR-519c-5p	CLIP-seq
MIRT1098838	hsa-miR-520c-5p	CLIP-seq
MIRT2559037	hsa-miR-520d-5p	CLIP-seq
MIRT2559038	hsa-miR-520f	CLIP-seq
MIRT2559039	hsa-miR-524-5p	CLIP-seq
MIRT1098841	hsa-miR-526a	CLIP-seq
MIRT2559040	hsa-miR-526b	CLIP-seq
MIRT2559042	hsa-miR-548g	CLIP-seq
MIRT2559043	hsa-miR-548o	CLIP-seq
MIRT2683634	hsa-miR-549	CLIP-seq
MIRT2559044	hsa-miR-576-5p	CLIP-seq
MIRT2559046	hsa-miR-610	CLIP-seq
MIRT2452696	hsa-miR-943	CLIP-seq
MIRT2559047	hsa-miR-96	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21145461, 21828050, 30190310, 32814053, 33961781, 34591642
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0016567	Process	Protein ubiquitination	IDA	21828050
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	21828050
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0042802	Function	Identical protein binding	IPI	21828050
GO:0042803	Function	Protein homodimerization activity	IDA	21828050
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	27392078
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

MIM	HGNC	e!Ensembl
611119	15646	ENSG00000122550

Q8IXQ5

Protein name

Kelch-like protein 7

Protein function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. {ECO:000

PDB

3II7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	34 → 141	BTB/POZ domain	Domain
PF07707	BACK	146 → 248	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	371 → 417	Kelch motif	Repeat
PF01344	Kelch_1	419 → 468	Kelch motif	Repeat
PF01344	Kelch_1	470 → 515	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis. {ECO:0000269|PubMed:16918702}.

Sequence

MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRV
VLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDA
ANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTD
EFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISK
NFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGG
SQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKD
SWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQR
CSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVK
DKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVG
RLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET

Sequence length

586

Interactions

View interactions

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bohring-Opitz syndrome	Likely pathogenic; Pathogenic	rs1583657698	RCV000852400	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cold-induced sweating syndrome 1	Pathogenic; Likely pathogenic	rs879255557, rs879255558, rs780705654, rs879255556	RCV000491711 RCV000490973 RCV000491153 RCV000491913	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal arthrogryposis	Likely pathogenic	rs1554289078	RCV000824875	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KLHL7-related disorder	Likely pathogenic; Pathogenic	rs2534860969, rs2534860980, rs746612410	RCV003335908 RCV003335909 RCV005863314	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs1583733628, rs746612410	RCV002274440 RCV002274113	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PERCHING syndrome	Pathogenic; Likely pathogenic	rs1784553913, rs769053076, rs2128460058, rs2128466903, rs2128469474, rs2534869708, rs879255557, rs879255558, rs780705654, rs879255556, rs2534860969, rs2534860980, rs2534868328, rs1554289078, rs1583657698, rs746612410, rs943339467 View all (2 more)	RCV001332689 RCV001614473 RCV001614477 RCV001614479 RCV002274224 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs137853113, rs137853114, rs1784156837	RCV001073803 RCV004814788 RCV001075490	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs137853113, rs1784160131	RCV001003071 RCV001199699	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 42	Likely pathogenic; Pathogenic	rs1182983579, rs2128469727, rs2128469724, rs137853112, rs137853113, rs137853114, rs2534860969, rs2534860980, rs1554289078	RCV001706939 RCV004798917 RCV002074474 RCV000001063 RCV000001064 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar deviation of the wrist	Likely pathogenic	rs1554289078, rs1554293056, rs1554293083	RCV000576878 RCV000576874 RCV000576886	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

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
BOHRING SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring-Opitz-like syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD-INDUCED SWEATING SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRISPONI SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLHL7-RELATED BOHRING OPITZ-LIKE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLHL7-RELATED BOHRING-OPITZ-LIKE AND CRISPONI/COLD-INDUCED SWEATING-LIKE OVERLAP SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLHL7-RELATED BOHRING-OPITZ-LIKE SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (95)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	30142437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	36471356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring-Opitz syndrome	ORPHANET_DG	29074562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring syndrome	Pubtator	30142437, 31856884	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring-Opitz syndrome	BEFREE	30300710		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring-Opitz syndrome	Bohring-Opitz Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Diseases	Brain disease	Pubtator	35670385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29633055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21642962, 29044464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25584925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cold-induced sweating syndrome	Cold-Induced Sweating Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD-INDUCED SWEATING SYNDROME 1	Cold-Induced Sweating Syndrome	ORPHANET_DG	27392078		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLD-INDUCED SWEATING SYNDROME 1	Cold-Induced Sweating Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLD-INDUCED SWEATING SYNDROME 1	Cold-Induced Sweating Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLD-INDUCED SWEATING SYNDROME 2	Cold-Induced Sweating Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	BEFREE	31497877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi Syndrome	BEFREE	27392078, 30142437, 30300710		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crisponi syndrome	Crisponi Syndrome	ORPHANET_DG	27392078		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crisponi syndrome	Crisponi syndrome	Pubtator	27392078, 30142437, 31856884, 35670385	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crisponi syndrome	Crisponi Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3	Crisponi syndrome	GENOMICS_ENGLAND_DG	27392078		★★★★★ ★☆☆☆☆ Found in Text Mining only
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3	Crisponi syndrome	UNIPROT_DG	27392078		★★★★★ ★☆☆☆☆ Found in Text Mining only
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3	Crisponi syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	BEFREE	30300710		★★★★★ ★☆☆☆☆ 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
Distal arthrogryposis syndrome	Distal arthrogryposis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	19520207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32466770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	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
Malignant neoplasm of breast	Breast Cancer	BEFREE	29633055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29044464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16918702, 29044464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16918702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29044464		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16918702		★★★★★ ★☆☆☆☆ 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			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	30142437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	BEFREE	31497877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25584925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	22084217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19520207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	20547956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	19520207, 27392078, 29032201		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19520207, 20547956, 22084217, 23950152, 27392078, 31856884	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 42	Retinitis Pigmentosa	UNIPROT_DG	19520207, 20547956, 21828050, 22084217		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 42	Retinitis pigmentosa	Pubtator	22084217	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 42	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 42	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 42	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	Rhyns syndrome	Pubtator	31856884	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
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	16108817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35606755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29044464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	22084217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL7 (kelch like family member 7)