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	92211
Gene name	Cadherin related family member 1
Gene symbol	CDHR1
Synonyms (NCBI Gene)	CORD15PCDH21PRCADRP65
Chromosome	10
Chromosome location	10q23.1
Summary	This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherite

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137876961	A>G	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs141787212	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs146588811	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs147346345	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs150969538	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, synonymous variant
rs190906755	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs199567321	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs747425652	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs756678484	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs760942217	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs763399323	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs767366723	T>C,G	Pathogenic	Splice donor variant
rs781781440	->A	Pathogenic	Coding sequence variant, frameshift variant
rs786205459	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786205613	G>-	Likely-pathogenic	Stop gained, coding sequence variant, frameshift variant
rs794726954	A>G,T	Uncertain-significance, pathogenic	Upstream transcript variant, initiator codon variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794727197	TCTCTGA>-	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs878853347	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs886041900	G>A,T	Pathogenic	Splice acceptor variant
rs886044648	GCACCATC>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1477733493	T>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1554857529	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1589300382	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1589306127	C>T	Pathogenic	Coding sequence variant, stop gained
rs1589307705	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1589313739	CAAA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048768	hsa-miR-93-5p	CLASH	23622248
MIRT879968	hsa-miR-103a	CLIP-seq
MIRT879969	hsa-miR-107	CLIP-seq
MIRT879970	hsa-miR-146a	CLIP-seq
MIRT879971	hsa-miR-146b-5p	CLIP-seq
MIRT879972	hsa-miR-15a	CLIP-seq
MIRT879973	hsa-miR-15b	CLIP-seq
MIRT879974	hsa-miR-16	CLIP-seq
MIRT879975	hsa-miR-195	CLIP-seq
MIRT879976	hsa-miR-424	CLIP-seq
MIRT879977	hsa-miR-4524	CLIP-seq
MIRT879978	hsa-miR-497	CLIP-seq
MIRT879979	hsa-miR-503	CLIP-seq
MIRT879980	hsa-miR-589	CLIP-seq
MIRT879981	hsa-miR-646	CLIP-seq
MIRT879982	hsa-let-7a	CLIP-seq
MIRT879983	hsa-let-7b	CLIP-seq
MIRT879984	hsa-let-7c	CLIP-seq
MIRT879985	hsa-let-7d	CLIP-seq
MIRT879986	hsa-let-7e	CLIP-seq
MIRT879987	hsa-let-7f	CLIP-seq
MIRT879988	hsa-let-7g	CLIP-seq
MIRT879989	hsa-let-7i	CLIP-seq
MIRT879990	hsa-miR-122	CLIP-seq
MIRT879991	hsa-miR-1245b-3p	CLIP-seq
MIRT879992	hsa-miR-1294	CLIP-seq
MIRT879993	hsa-miR-1910	CLIP-seq
MIRT879994	hsa-miR-194	CLIP-seq
MIRT879995	hsa-miR-202	CLIP-seq
MIRT879996	hsa-miR-3064-5p	CLIP-seq
MIRT879997	hsa-miR-3126-5p	CLIP-seq
MIRT879998	hsa-miR-3135b	CLIP-seq
MIRT879999	hsa-miR-3529	CLIP-seq
MIRT880000	hsa-miR-3605-5p	CLIP-seq
MIRT880001	hsa-miR-3607-5p	CLIP-seq
MIRT880002	hsa-miR-3652	CLIP-seq
MIRT880003	hsa-miR-379	CLIP-seq
MIRT880004	hsa-miR-3915	CLIP-seq
MIRT880005	hsa-miR-3918	CLIP-seq
MIRT880006	hsa-miR-3927	CLIP-seq
MIRT880007	hsa-miR-3928	CLIP-seq
MIRT880008	hsa-miR-4316	CLIP-seq
MIRT880009	hsa-miR-4419a	CLIP-seq
MIRT880010	hsa-miR-4430	CLIP-seq
MIRT880011	hsa-miR-4436b-3p	CLIP-seq
MIRT880012	hsa-miR-4458	CLIP-seq
MIRT880013	hsa-miR-4500	CLIP-seq
MIRT880014	hsa-miR-4505	CLIP-seq
MIRT880015	hsa-miR-4510	CLIP-seq
MIRT880016	hsa-miR-4512	CLIP-seq
MIRT880017	hsa-miR-4534	CLIP-seq
MIRT880018	hsa-miR-4706	CLIP-seq
MIRT880019	hsa-miR-4729	CLIP-seq
MIRT880020	hsa-miR-4749-5p	CLIP-seq
MIRT880021	hsa-miR-4781-5p	CLIP-seq
MIRT880022	hsa-miR-499a-5p	CLIP-seq
MIRT880023	hsa-miR-542-5p	CLIP-seq
MIRT880024	hsa-miR-555	CLIP-seq
MIRT880025	hsa-miR-579	CLIP-seq
MIRT880026	hsa-miR-587	CLIP-seq
MIRT880027	hsa-miR-98	CLIP-seq
MIRT1960739	hsa-miR-105	CLIP-seq
MIRT1960740	hsa-miR-4468	CLIP-seq
MIRT879991	hsa-miR-1245b-3p	CLIP-seq
MIRT880000	hsa-miR-3605-5p	CLIP-seq
MIRT880004	hsa-miR-3915	CLIP-seq
MIRT880007	hsa-miR-3928	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0008594	Process	Photoreceptor cell morphogenesis	IMP	23044944
GO:0016020	Component	Membrane	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IMP	23044944
GO:0042622	Component	Photoreceptor outer segment membrane	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	20805371
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
609502	14550	ENSG00000148600

Q96JP9

Protein name

Cadherin-related family member 1 (Photoreceptor cadherin) (prCAD) (Protocadherin-21)

Protein function

Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	40 → 125	Cadherin domain	Domain
PF00028	Cadherin	140 → 237	Cadherin domain	Domain
PF00028	Cadherin	251 → 344	Cadherin domain	Domain
PF00028	Cadherin	477 → 567	Cadherin domain	Domain
PF00028	Cadherin	581 → 677	Cadherin domain	Domain

Sequence

MRRCRWAALALGLLRLCLAQANFAPHFFDNGVGSTNGNMALFSLPEDTPVGSHVYTLNGT
DPEGDPISYHISFDPSTRSVFSVDPTFGNITLVEELDREREDEIEAIISISDGLNLVAEK
VVILVTDANDEAPRFIQEPYVALVPEDIPAGSIIFKVHAVDRDTGSGGSVTYFLQNLHSP
FAVDRHSGVLRLQAGATLDYERSRTHYITVVAKDGGGRLHGADVVFSATTTVTVNVEDVQ
DMAPVFVGTPYYGYVYEDTLPGSEVLKVVAMDGDRGKPNRILYSLVNGNDGAFEINETSG
AISITQSPAQLQREVYELHVQVTEMSPAGSPAAQATVPVTIRIVDLNNHPPTFYGESGPQ
NRFELSMNEHPPQGEILRGLKITVNDSDQGANAKFNLQLVGPRGIFRVVPQTVLNEAQVT
IIVENSAAIDFEKSKVLTFKLLAVEVNTPEKFSSTADVVIQLLDTNDNVPKFDSLYYVAR
IPENAPGGSSVVAVTAVDPDTGPWGEVKYSTYGTGADLFLIHPSTGLIYTQPWASLDAEA
TARYNFYVKAEDMEGKYSVAEVFITLLDVNDHPPQFGKSVQKKTMVLGTPVKIEAIDEDA
EEPNNLVDYSITHAEPANVFDINSHTGEIWLKNSIRSLDALHNITPGRDCLWSLEVQAKD
RGSPSFSTTALLKIDITDAETLSRSPMAAFLIQTKDNPMKAVGVLAGTMATVVAITVLIS
TATFWRNKKSNKVLPMRRVLRKRPSPAPRTIRIEWLKSKSTKAATKFMLKEKPPNENCNN
NSPESSLLPRAPALPPPPSVAPSTGAAQWTVPTVSGSLTPQPTQPPPKPKTMGSPVQSTL
ISELKQKFEKKSVHNKAYF

Sequence length

859

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CDHR1-related disorder	Likely pathogenic; Pathogenic	rs750895925, rs547198427	RCV003399208 RCV003393836	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Likely pathogenic; Pathogenic	rs794727197	RCV000626977	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs142980820, rs1589306127, rs767366723	RCV004017867 RCV002267755 RCV002267756	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 15	Pathogenic; Likely pathogenic	rs373978786, rs2132782773, rs1842216995, rs751972593, rs1346965647, rs1842385241, rs794727197, rs886041900, rs2492497251, rs781781440, rs756678484, rs1589307705, rs767366723, rs373412516, rs1183979115	RCV001591909 RCV001591910 RCV002227535 RCV005232754 RCV005863512 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Pathogenic	rs781781440	RCV000787810	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy, retinal, 5	Likely pathogenic; Pathogenic	rs1842216995, rs794727197, rs1446751435	RCV003222341 RCV003221835 RCV003159259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1346965647, rs794727197, rs878853347, rs1554857529, rs756678484, rs747425652, rs767366723, rs1842189258, rs760608593, rs1842324166, rs547198427	RCV004815678 RCV001075783 RCV000225405 RCV000504869 RCV000505058 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1842216995, rs794727197, rs781781440, rs1477733493, rs794726954, rs1589313739, rs867166472	RCV001724851 RCV000504886 RCV001723582 RCV000504623 RCV001002928 RCV001002933 RCV001724270 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 65	Likely pathogenic; Pathogenic	rs794727197, rs1257781536, rs1395276529, rs756678484, rs747425652	RCV003221834 RCV003159256 RCV003159257 RCV000030832 RCV000030831	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

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.
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Recessive	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
maculopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	18654668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	28885867, 31387115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35627310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	BEFREE	31387115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	26957898, 28765526	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone Dystrophy	BEFREE	28765526		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	20805371, 23233793, 24265541		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY 15	Cone-rod dystrophy	UNIPROT_DG	20805371, 26350383		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 15	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 15	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 15	Cone-rod dystrophy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	20805371, 23233793, 24265541, 28765526, 31136651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	20805371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ 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
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24265541	Associate	★★★★★ ★☆☆☆☆ 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
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	30718709		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Macular Degeneration	BEFREE	18654668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32681094, 35627310	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)
Retinal Degeneration	Retinal degeneration	Pubtator	20087419, 23044944, 23233793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24265541, 27623334, 28885867, 31387115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	24265541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	16288196, 21677792, 26350383, 27623334, 28765526, 28885867, 30160356, 31387115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	20087419, 30718709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	20087419		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	28765526, 35656873	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 65	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	20805371, 23233793, 24265541		★★★★★ ★☆☆☆☆ 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
Tourette Syndrome	Tourette syndrome	Pubtator	33837273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1D	Usher syndrome	Pubtator	16288196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1D	Usher Syndrome	BEFREE	16288196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	35656873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23044944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CDHR1 (cadherin related family member 1)