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	9657
Gene name	IQ motif containing B1
Gene symbol	IQCB1
Synonyms (NCBI Gene)	NPHP5PIQSLSN5
Chromosome	3
Chromosome location	3q13.33\|3q21.1
Summary	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1141528	A>T	Benign, pathogenic, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121918244	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121918245	G>A,C	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs140630401	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs201405662	G>A,C	Pathogenic, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained, intron variant
rs373909351	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs387907009	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398123538	TG>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs587783011	->CT	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727503968	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs727503969	T>A	Pathogenic	Splice acceptor variant
rs745340459	->AGCA	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750962965	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs767295178	->TGCCACA	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs768572151	->AGATAA	Conflicting-interpretations-of-pathogenicity	Intron variant
rs779696701	C>T	Pathogenic	Splice acceptor variant
rs779858591	G>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs786200929	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs794727964	C>A	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs866982675	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793692	G>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1156803164	GAGA>-	Pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1189889920	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1280238814	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1474058708	GTCT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553711564	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553722736	A>C	Likely-pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1576559094	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027674	hsa-miR-98-5p	Microarray	19088304
MIRT030516	hsa-miR-24-3p	Microarray	19748357
MIRT047676	hsa-miR-10a-5p	CLASH	23622248
MIRT727435	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727434	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727433	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727432	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727431	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1069477	hsa-miR-30a	CLIP-seq
MIRT1069478	hsa-miR-30b	CLIP-seq
MIRT1069479	hsa-miR-30c	CLIP-seq
MIRT1069480	hsa-miR-30d	CLIP-seq
MIRT1069481	hsa-miR-30e	CLIP-seq
MIRT1069482	hsa-miR-3146	CLIP-seq
MIRT1069483	hsa-miR-4495	CLIP-seq
MIRT1069484	hsa-miR-4639-5p	CLIP-seq
MIRT1069485	hsa-miR-603	CLIP-seq
MIRT1069486	hsa-miR-1205	CLIP-seq
MIRT1069487	hsa-miR-1231	CLIP-seq
MIRT1069488	hsa-miR-1299	CLIP-seq
MIRT1069489	hsa-miR-217	CLIP-seq
MIRT1069490	hsa-miR-3148	CLIP-seq
MIRT1069491	hsa-miR-3150b-3p	CLIP-seq
MIRT1069492	hsa-miR-3655	CLIP-seq
MIRT1069493	hsa-miR-3665	CLIP-seq
MIRT1069494	hsa-miR-410	CLIP-seq
MIRT1069495	hsa-miR-4288	CLIP-seq
MIRT1069496	hsa-miR-4418	CLIP-seq
MIRT1069497	hsa-miR-4784	CLIP-seq
MIRT1069498	hsa-miR-509-3-5p	CLIP-seq
MIRT1069499	hsa-miR-509-5p	CLIP-seq
MIRT1069500	hsa-miR-516b	CLIP-seq
MIRT1069501	hsa-miR-589	CLIP-seq
MIRT1069502	hsa-miR-618	CLIP-seq
MIRT1069503	hsa-miR-632	CLIP-seq
MIRT1069504	hsa-miR-657	CLIP-seq
MIRT1069505	hsa-miR-765	CLIP-seq
MIRT1069506	hsa-miR-875-3p	CLIP-seq
MIRT2249050	hsa-miR-1228	CLIP-seq
MIRT1069487	hsa-miR-1231	CLIP-seq
MIRT2249051	hsa-miR-1258	CLIP-seq
MIRT2249052	hsa-miR-1265	CLIP-seq
MIRT2249053	hsa-miR-1283	CLIP-seq
MIRT2249054	hsa-miR-1291	CLIP-seq
MIRT1069488	hsa-miR-1299	CLIP-seq
MIRT2249055	hsa-miR-142-5p	CLIP-seq
MIRT2249056	hsa-miR-2392	CLIP-seq
MIRT2249057	hsa-miR-23a	CLIP-seq
MIRT2249058	hsa-miR-23b	CLIP-seq
MIRT2249059	hsa-miR-23c	CLIP-seq
MIRT1069477	hsa-miR-30a	CLIP-seq
MIRT1069478	hsa-miR-30b	CLIP-seq
MIRT1069479	hsa-miR-30c	CLIP-seq
MIRT1069480	hsa-miR-30d	CLIP-seq
MIRT1069481	hsa-miR-30e	CLIP-seq
MIRT2249060	hsa-miR-3130-3p	CLIP-seq
MIRT1069482	hsa-miR-3146	CLIP-seq
MIRT1069490	hsa-miR-3148	CLIP-seq
MIRT1069491	hsa-miR-3150b-3p	CLIP-seq
MIRT2249061	hsa-miR-3168	CLIP-seq
MIRT2249062	hsa-miR-328	CLIP-seq
MIRT2249063	hsa-miR-329	CLIP-seq
MIRT2249064	hsa-miR-338-5p	CLIP-seq
MIRT2249065	hsa-miR-362-3p	CLIP-seq
MIRT1069492	hsa-miR-3655	CLIP-seq
MIRT1069495	hsa-miR-4288	CLIP-seq
MIRT1069483	hsa-miR-4495	CLIP-seq
MIRT1069484	hsa-miR-4639-5p	CLIP-seq
MIRT1069497	hsa-miR-4784	CLIP-seq
MIRT2249066	hsa-miR-4793-3p	CLIP-seq
MIRT1069500	hsa-miR-516b	CLIP-seq
MIRT1069501	hsa-miR-589	CLIP-seq
MIRT1069485	hsa-miR-603	CLIP-seq
MIRT1069503	hsa-miR-632	CLIP-seq
MIRT2249067	hsa-miR-651	CLIP-seq
MIRT1069505	hsa-miR-765	CLIP-seq
MIRT1069506	hsa-miR-875-3p	CLIP-seq
MIRT2552676	hsa-miR-1305	CLIP-seq
MIRT2552677	hsa-miR-3647-3p	CLIP-seq
MIRT2552678	hsa-miR-3671	CLIP-seq
MIRT2552679	hsa-miR-4762-5p	CLIP-seq
MIRT2552680	hsa-miR-607	CLIP-seq
MIRT2552681	hsa-miR-653	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	18723859, 21565611, 23446637, 25552655, 26638075, 28514442, 29959317, 32296183, 33961781
GO:0005516	Function	Calmodulin binding	IDA	15723066
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	28498859
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0030030	Process	Cell projection organization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	25552655, 28498859
GO:0032391	Component	Photoreceptor connecting cilium	IDA	15723066
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	15723066
GO:0048496	Process	Maintenance of animal organ identity	IMP	15723066
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IDA	25552655
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0061824	Process	Cytosolic ciliogenesis	IDA	28498859
GO:0061824	Process	Cytosolic ciliogenesis	IDA	28498859
GO:0062063	Function	BBSome binding	IDA	25552655
GO:0070062	Component	Extracellular exosome	HDA	18570454

MIM	HGNC	e!Ensembl
609237	28949	ENSG00000173226

Q15051

Protein name

IQ calmodulin-binding motif-containing protein 1 (Nephrocystin-5) (p53 and DNA damage-regulated IQ motif protein) (PIQ)

Protein function

Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00612	IQ	295 → 315	IQ calmodulin-binding motif	Motif
PF00612	IQ	388 → 408	IQ calmodulin-binding motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors. {ECO:0000269|PubMed:15723066, ECO:000026

Sequence

MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQ
YCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGR
QLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQI
GSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAES
HQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACL
IQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAM
RLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAA
VTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSR
ELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLS
RSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP

Sequence length

598

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

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
IQCB1-related disorder	Likely pathogenic; Pathogenic	rs1949313357, rs121918244, rs1474058708, rs398123538	RCV003407857 RCV003398416 RCV004755699 RCV004755762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs1948821736, rs867772426, rs750962965, rs201405662, rs373909351, rs387907009, rs1553722736, rs748559081	RCV001591797 RCV005419287 RCV000505085 RCV000504702 RCV006261943 RCV000504719 RCV000504928 RCV001199693 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Likely pathogenic	rs768014052	RCV005930675	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Pathogenic; Likely pathogenic	rs2108591614, rs1201853761, rs1226321871, rs776023179, rs773848660, rs1250919247, rs2108643223, rs2108571563, rs1372024420, rs1949313357, rs867772426, rs587783011, rs121918244, rs750962965, rs1474058708 View all (25 more)	RCV001387062 RCV002541151 RCV001984251 RCV002037700 RCV001961933 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal dysplasia and retinal aplasia	Pathogenic	rs121918244, rs866982675, rs1576559094	RCV001003059 RCV000615076 RCV001003060	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs1474058708	RCV006272078	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs121918244, rs750962965, rs745340459, rs373909351, rs1553711564, rs866982675, rs1189889920, rs1280238814, rs398123538	RCV000505099 RCV001073766 RCV001075285 RCV001075299 RCV000504874 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic	rs398123538	RCV000787844	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 5	Likely pathogenic; Pathogenic	rs2108595322, rs2108566215, rs1250919247, rs1949313357, rs867772426, rs587783011, rs121918244, rs750962965, rs1156803164, rs1474058708, rs121918245, rs727503968, rs727503969, rs794727964, rs1189770602 View all (44 more)	RCV001376428 RCV001808054 RCV003471283 RCV005038391 RCV003475250 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs2472529375	RCV005927713	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	20881296, 21220633, 21245082, 21901789, 24066033, 27506978, 29219953, 29322253, 30713422, 31212307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis hypertrichosis	Amaurosis hypertrichosis	Pubtator	29322253	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29503543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	25552655		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Blindness	Blindness	Pubtator	36084637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31520846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	20007846, 21068128, 27491411, 36084637	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	21245082, 27328943, 27506978, 30713422		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	16322217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jalili syndrome	Jalili Syndrome	BEFREE	29322253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20881296, 21220633, 23446637, 27506978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21220633, 36084637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	20881296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	11396547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	15723066, 21220633		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	20881296, 21220633, 27328943, 27506978, 29219953, 29322253, 30713422, 31212307		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	20881296, 21901789		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	21220633, 21901789, 24066033, 26147992, 29219953, 29322253, 31212307, 32088401, 36084637, 40725491	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16322217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602, 26920376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	Pubtator	31754202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG	15723066, 19430481, 20881296, 21866095, 23188109, 23446637, 24625443, 24674142, 25851290, 26274329, 28041643, 28832562		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	18076122, 20881296, 27328943, 30713422		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 1	Nephronophthisis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 3	Nephronophthisis	BEFREE	20007846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	17617513, 18076122, 25851290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	15723066, 18076122, 20007846, 20881296, 21220633, 24674142, 27328943, 30087219, 30713422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	CLINVAR_DG	21220633, 21866095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	22819833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	40725491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	21901789, 23446637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29219953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	15723066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	29322253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15723066, 18076122, 31212307		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	18076122	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa 2	Retinitis pigmentosa	Pubtator	21857984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28987057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	20007846, 21220633, 27491411, 30087219, 36084637, 40725491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senior-Loken Syndrome 1	Senior-Loken Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senior-Loken Syndrome 5	Senior-Loken Syndrome	CLINVAR_DG	15723066, 20881296, 23559409		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Senior-Loken Syndrome 5	Senior-Loken Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Senior-Loken Syndrome 5	Senior-Loken Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	30713422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	21220633, 31212307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IQCB1 (IQ motif containing B1)