LCA5 (lebercilin LCA5)

Gene

• Entrez ID: 167691
• Gene name: Lebercilin LCA5
• Gene symbol: LCA5
• Synonyms (NCBI Gene): C6orf152
• Chromosome: 6
• Chromosome location: 6q14.1
• Summary: This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918165	G>A	Pathogenic	Stop gained, coding sequence variant
rs183261547	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs746351112	C>A,T	Likely-pathogenic	Splice donor variant
rs781035395	G>A	Pathogenic	Stop gained, coding sequence variant
rs786205653	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs866395428	G>A	Pathogenic	Stop gained, coding sequence variant
rs878853382	TAGCTTC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519136	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1178243254	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019013	hsa-miR-335-5p	Microarray	18185580
MIRT019478	hsa-miR-148b-3p	Microarray	17612493
MIRT021827	hsa-miR-132-3p	Microarray	17612493
MIRT023341	hsa-miR-122-5p	Microarray	17612493
MIRT025623	hsa-miR-10a-5p	Sequencing	20371350
MIRT1105511	hsa-miR-200b	CLIP-seq
MIRT1105512	hsa-miR-200c	CLIP-seq
MIRT1105513	hsa-miR-3973	CLIP-seq
MIRT1105514	hsa-miR-4272	CLIP-seq
MIRT1105515	hsa-miR-429	CLIP-seq
MIRT1105516	hsa-miR-4724-5p	CLIP-seq
MIRT1105517	hsa-miR-494	CLIP-seq
MIRT1105518	hsa-miR-520g	CLIP-seq
MIRT1105519	hsa-miR-520h	CLIP-seq
MIRT1105520	hsa-miR-1298	CLIP-seq
MIRT1105521	hsa-miR-155	CLIP-seq
MIRT1105522	hsa-miR-182	CLIP-seq
MIRT1105523	hsa-miR-205	CLIP-seq
MIRT1105524	hsa-miR-320e	CLIP-seq
MIRT1105525	hsa-miR-3616-5p	CLIP-seq
MIRT1105526	hsa-miR-3647-5p	CLIP-seq
MIRT1105527	hsa-miR-4470	CLIP-seq
MIRT1105528	hsa-miR-4517	CLIP-seq
MIRT1105529	hsa-miR-4720-3p	CLIP-seq
MIRT1105530	hsa-miR-4729	CLIP-seq
MIRT1105531	hsa-miR-4795-5p	CLIP-seq
MIRT1105532	hsa-miR-4804-3p	CLIP-seq
MIRT1105533	hsa-miR-487a	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT1105536	hsa-miR-573	CLIP-seq
MIRT1105537	hsa-miR-586	CLIP-seq
MIRT1105538	hsa-miR-590-3p	CLIP-seq
MIRT1105539	hsa-miR-889	CLIP-seq
MIRT2029085	hsa-miR-1203	CLIP-seq
MIRT2029086	hsa-miR-3125	CLIP-seq
MIRT2029087	hsa-miR-3916	CLIP-seq
MIRT2029088	hsa-miR-4428	CLIP-seq
MIRT2029089	hsa-miR-4633-3p	CLIP-seq
MIRT2260086	hsa-miR-4280	CLIP-seq
MIRT2260087	hsa-miR-4420	CLIP-seq
MIRT2260088	hsa-miR-4704-3p	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT2560312	hsa-miR-105	CLIP-seq
MIRT2560313	hsa-miR-1183	CLIP-seq
MIRT2029085	hsa-miR-1203	CLIP-seq
MIRT2560314	hsa-miR-1224-5p	CLIP-seq
MIRT2560315	hsa-miR-128	CLIP-seq
MIRT2560316	hsa-miR-1291	CLIP-seq
MIRT1105520	hsa-miR-1298	CLIP-seq
MIRT2560317	hsa-miR-1304	CLIP-seq
MIRT2560318	hsa-miR-298	CLIP-seq
MIRT2560319	hsa-miR-3065-5p	CLIP-seq
MIRT2029086	hsa-miR-3125	CLIP-seq
MIRT2560320	hsa-miR-3129-3p	CLIP-seq
MIRT2560321	hsa-miR-3137	CLIP-seq
MIRT2560322	hsa-miR-3143	CLIP-seq
MIRT2560323	hsa-miR-3146	CLIP-seq
MIRT2560324	hsa-miR-3189-3p	CLIP-seq
MIRT2560325	hsa-miR-3202	CLIP-seq
MIRT2560326	hsa-miR-323b-3p	CLIP-seq
MIRT2560327	hsa-miR-328	CLIP-seq
MIRT2560328	hsa-miR-331-3p	CLIP-seq
MIRT2560329	hsa-miR-3620	CLIP-seq
MIRT2560330	hsa-miR-3653	CLIP-seq
MIRT2560331	hsa-miR-3667-3p	CLIP-seq
MIRT2560332	hsa-miR-3671	CLIP-seq
MIRT2560333	hsa-miR-3714	CLIP-seq
MIRT2560334	hsa-miR-3915	CLIP-seq
MIRT2029087	hsa-miR-3916	CLIP-seq
MIRT2560335	hsa-miR-3919	CLIP-seq
MIRT1105513	hsa-miR-3973	CLIP-seq
MIRT2560336	hsa-miR-421	CLIP-seq
MIRT2560337	hsa-miR-425	CLIP-seq
MIRT1105514	hsa-miR-4272	CLIP-seq
MIRT2260086	hsa-miR-4280	CLIP-seq
MIRT2560338	hsa-miR-4422	CLIP-seq
MIRT2029088	hsa-miR-4428	CLIP-seq
MIRT2560339	hsa-miR-4460	CLIP-seq
MIRT1105528	hsa-miR-4517	CLIP-seq
MIRT2029089	hsa-miR-4633-3p	CLIP-seq
MIRT2560340	hsa-miR-4635	CLIP-seq
MIRT2560341	hsa-miR-4637	CLIP-seq
MIRT2560342	hsa-miR-4662a-3p	CLIP-seq
MIRT2560343	hsa-miR-4662a-5p	CLIP-seq
MIRT2560344	hsa-miR-4689	CLIP-seq
MIRT2560345	hsa-miR-4704-5p	CLIP-seq
MIRT2560346	hsa-miR-4727-3p	CLIP-seq
MIRT2560347	hsa-miR-4734	CLIP-seq
MIRT2560348	hsa-miR-4742-3p	CLIP-seq
MIRT2560349	hsa-miR-4747-5p	CLIP-seq
MIRT2560350	hsa-miR-4751	CLIP-seq
MIRT2560351	hsa-miR-4762-5p	CLIP-seq
MIRT2560352	hsa-miR-4764-3p	CLIP-seq
MIRT2560353	hsa-miR-4766-5p	CLIP-seq
MIRT2560354	hsa-miR-4767	CLIP-seq
MIRT2560355	hsa-miR-4775	CLIP-seq
MIRT2560356	hsa-miR-4803	CLIP-seq
MIRT2560357	hsa-miR-486-5p	CLIP-seq
MIRT1105533	hsa-miR-487a	CLIP-seq
MIRT1105517	hsa-miR-494	CLIP-seq
MIRT2560358	hsa-miR-500a	CLIP-seq
MIRT2560359	hsa-miR-502-5p	CLIP-seq
MIRT2560360	hsa-miR-505	CLIP-seq
MIRT2560361	hsa-miR-5096	CLIP-seq
MIRT2560362	hsa-miR-515-5p	CLIP-seq
MIRT2560363	hsa-miR-518a-5p	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105518	hsa-miR-520g	CLIP-seq
MIRT1105519	hsa-miR-520h	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT2560364	hsa-miR-526b	CLIP-seq
MIRT2560365	hsa-miR-527	CLIP-seq
MIRT2560366	hsa-miR-539	CLIP-seq
MIRT2560367	hsa-miR-543	CLIP-seq
MIRT2560368	hsa-miR-548a-3p	CLIP-seq
MIRT2560369	hsa-miR-548e	CLIP-seq
MIRT2560370	hsa-miR-548f	CLIP-seq
MIRT2560371	hsa-miR-554	CLIP-seq
MIRT2560372	hsa-miR-580	CLIP-seq
MIRT1105537	hsa-miR-586	CLIP-seq
MIRT1105538	hsa-miR-590-3p	CLIP-seq
MIRT2560373	hsa-miR-607	CLIP-seq
MIRT2560374	hsa-miR-628-3p	CLIP-seq
MIRT2560375	hsa-miR-654-3p	CLIP-seq
MIRT2560376	hsa-miR-7	CLIP-seq
MIRT2560313	hsa-miR-1183	CLIP-seq
MIRT2560316	hsa-miR-1291	CLIP-seq
MIRT2029086	hsa-miR-3125	CLIP-seq
MIRT2560320	hsa-miR-3129-3p	CLIP-seq
MIRT2560321	hsa-miR-3137	CLIP-seq
MIRT2560325	hsa-miR-3202	CLIP-seq
MIRT2560327	hsa-miR-328	CLIP-seq
MIRT2560328	hsa-miR-331-3p	CLIP-seq
MIRT2029087	hsa-miR-3916	CLIP-seq
MIRT1105513	hsa-miR-3973	CLIP-seq
MIRT1105514	hsa-miR-4272	CLIP-seq
MIRT2260086	hsa-miR-4280	CLIP-seq
MIRT2029088	hsa-miR-4428	CLIP-seq
MIRT2560342	hsa-miR-4662a-3p	CLIP-seq
MIRT2560343	hsa-miR-4662a-5p	CLIP-seq
MIRT2560349	hsa-miR-4747-5p	CLIP-seq
MIRT2560357	hsa-miR-486-5p	CLIP-seq
MIRT1105517	hsa-miR-494	CLIP-seq
MIRT2560358	hsa-miR-500a	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105518	hsa-miR-520g	CLIP-seq
MIRT1105519	hsa-miR-520h	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT2560368	hsa-miR-548a-3p	CLIP-seq
MIRT2560369	hsa-miR-548e	CLIP-seq
MIRT2560370	hsa-miR-548f	CLIP-seq
MIRT1105537	hsa-miR-586	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19800048, 22940612, 25416956, 26638075, 27173435, 28514442, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	21606596
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0015031	Process	Protein transport	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	21606596
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	21606596
GO:0045494	Process	Photoreceptor cell maintenance	ISS

Other IDs

• MIM: 611408
• HGNC: 31923
• e!Ensembl: ENSG00000135338

Protein

• UniProt ID: Q86VQ0
• Protein name: Lebercilin (Leber congenital amaurosis 5 protein)
• Protein function: Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15619	Lebercilin	100 → 292	Ciliary protein causing Leber congenital amaurosis disease	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:17546029}.
• Sequence:

  MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQV
  HHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVS
  ELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQE
  KERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
  ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSN
  RLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEE
  PGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKK
  QKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
  SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSG
  NVRSPASPNEFAFGSYVPSFAKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEK
  KANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLS
  EGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR

• Sequence length: 697

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
LCA5-related disorder	Likely pathogenic	rs761896026	RCV003391398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs386834252, rs121918165, rs2127680021, rs1766535009, rs766143193, rs866395428, rs781035395, rs765473119, rs1286660951, rs1769904494, rs1331645027	RCV001271951 RCV001003073 RCV002238684 RCV005406564 RCV000505038 RCV000505126 RCV001003074 RCV001003072 RCV002282423 RCV003324558 RCV005408821	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 1	Likely pathogenic; Pathogenic	rs1178243254	RCV000987743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 5	Likely pathogenic; Pathogenic	rs757681601, rs2127665995, rs1414684440, rs1318750068, rs2127666004, rs183261547, rs2127683029, rs1429753961, rs386834252, rs386834253, rs121918165, rs2533451741, rs2533392056, rs2533392146, rs866130991, rs2533369355, rs2533439828, rs1481559911, rs2533451770, rs767554181, rs2533369525, rs2533368804, rs761872177, rs2533438140, rs2533368021, rs2533439608, rs2533378064, rs748907928, rs2533451264, rs2533451235, rs1769696205, rs2533367339, rs2533438579, rs374135825, rs2533439675, rs377719240, rs2533367760, rs2127665958, rs2533438607, rs2533386153, rs2533369395, rs750725128, rs2127679884, rs2533369844, rs1769905934, rs1057519136, rs866395428, rs1268307330, rs781035395, rs746351112, rs1178243254, rs1182277140, rs1769845495, rs1286660951, rs1240302846, rs1766524422, rs748370008, rs1248460033, rs1453987164, rs772573829, rs151017794, rs1769703329, rs1769706250, rs1769761816, rs1769904494, rs1766298401, rs1766311263, rs1766311895, rs1766318937, rs1766528592, rs753594556, rs1331645027	RCV001826147 RCV003469717 RCV005038189 RCV003469653 RCV001526723 RCV001783596 RCV005031921 RCV003464289 RCV000001017 RCV000001018 RCV000001019 RCV003465916 RCV005032338 RCV004571217 RCV004572541 RCV003463767 RCV003319563 RCV003389570 RCV003469931 RCV003469932 RCV003461788 RCV003469933 RCV003469934 RCV003469935 RCV003469936 RCV003469937 RCV003469938 RCV003469939 RCV003461789 RCV003469940 RCV003469941 RCV003469942 RCV003461790 RCV005645497 RCV005616691 RCV003991746 RCV004576797 RCV004576798 RCV004576800 RCV004576801 RCV004576802 RCV004576803 RCV004576804 RCV004576805 RCV004576806 RCV004576807 RCV001257107 RCV001834629 RCV001592971 RCV003461262 RCV003467331 RCV003473531 RCV003467560 RCV001030781 RCV003473543 RCV003469269 RCV003467738 RCV001257103 RCV003467811 RCV002504243 RCV001828868 RCV001828861 RCV001257113 RCV001257112 RCV001257111 RCV001257109 RCV001257108 RCV001257106 RCV001257105 RCV001257104 RCV001257102 RCV001257110 RCV005038052	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic liver disease 2	Pathogenic	rs151017794	RCV004813160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs386834252, rs121918165, rs878853382, rs767554181, rs866395428, rs746351112, rs748370008, rs1769692830, rs1769707298	RCV004814787 RCV001073263 RCV000225651 RCV004794644 RCV000504935 RCV001075221 RCV004813601 RCV001073574 RCV001075343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1286660951, rs151017794, rs1766311095	RCV001199701 RCV001724273 RCV001249883	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMAUROSIS CONGENITA OF LEBER, TYPE 5	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LCA5-related retinopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amaurosis	Amaurosis	CTD_human_DG	17546029		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber type 5	Leber congenital amaurosis	Pubtator	27067258	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	16082399, 17546029, 18334959, 19172513, 19503738, 21602930, 21606596, 23946133, 24144451, 31348989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	12642313	Associate	★☆☆☆☆ Found in Text Mining only
Blindness, Acquired	Blindness	CTD_human_DG	17546029		★☆☆☆☆ Found in Text Mining only
Blindness, Legal	Blindness	CTD_human_DG	17546029		★☆☆☆☆ Found in Text Mining only
Blindness, Monocular	Blindness	CTD_human_DG	17546029		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21850168	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	18826961, 29673930		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30537927	Associate	★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	27067258	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	31348989		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31348989		★☆☆☆☆ Found in Text Mining only
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
Eye Abnormalities	Eye abnormalities	Pubtator	12642313	Associate	★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	19800048		★☆☆☆☆ 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
Hereditary macular coloboma	Coloboma of macula	BEFREE	16082399		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	19503738	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	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	BEFREE	12642313, 18000884, 18334959, 19172513, 19503738, 23946133, 24144451, 29673930		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	12642313, 18334959, 18936139, 19503738, 21602930, 21850168, 23946133, 36369640, 39728598	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	17546029, 25685757		★★★★★ 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	CLINVAR_DG	23946133, 25412400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 5	Leber Congenital Amaurosis	UNIPROT_DG	17546029, 18000884, 18334959, 28418496		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 5	Leber Congenital Amaurosis	CLINVAR_DG	17546029, 19503738, 21606596, 23946133, 25356970		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 5	Leber Congenital Amaurosis	BEFREE	27067258		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 5	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 5	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10631161, 12642313, 17546029, 18000884		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	24144451		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	19503738	Associate	★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	18334959		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	18334959		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	26352687	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	23946133, 25412400		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	ORPHANET_DG	23946133		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23946133, 24144451		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	23946133	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	31348989		★☆☆☆☆ Found in Text Mining only
Scleral staphyloma	Scleral staphyloma	BEFREE	12642313		★☆☆☆☆ Found in Text Mining only
Severe early-childhood-onset retinal dystrophy	Retinal Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	18826961		★☆☆☆☆ Found in Text Mining only
Vitreoretinochoroidopathy	Vitreoretinochoroidopathy	Pubtator	12642313	Associate	★☆☆☆☆ Found in Text Mining only