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	23746
Gene name	AIP like 1 HSP90 co-chaperone
Gene symbol	AIPL1
Synonyms (NCBI Gene)	AIPL2LCA4
Chromosome	17
Chromosome location	17p13.2
Summary	Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with ny

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs16955851	T>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Intron variant, missense variant, coding sequence variant
rs61757484	G>A,C	Benign-likely-benign, likely-benign, pathogenic, benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs62637010	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637011	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637012	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637014	C>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs62637015	C>A,T	Benign-likely-benign, likely-benign, pathogenic, benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs62637016	CT>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs62637017	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs115681466	C>A,T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, missense variant
rs142208422	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs142326926	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs143092701	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, missense variant
rs145304845	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs150427474	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs150656720	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs281865195	CAGGTGGCTCTG>-	Not-provided, pathogenic, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, 3 prime UTR variant
rs775364986	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1264794214	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1284009768	C>G,T	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs1468041544	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1555547812	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1597331616	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1597340989	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant

187

Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052853	hsa-miR-3615	CLASH	23622248
MIRT662528	hsa-miR-4705	HITS-CLIP	23824327
MIRT662527	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT662526	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT662525	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT662524	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT662523	hsa-miR-1281	HITS-CLIP	23824327
MIRT662522	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT616496	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT616495	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT662528	hsa-miR-4705	HITS-CLIP	23824327
MIRT662527	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT662526	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT662525	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT662524	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT662523	hsa-miR-1281	HITS-CLIP	23824327
MIRT662522	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT616496	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT616495	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT774531	hsa-miR-125a-3p	CLIP-seq
MIRT774532	hsa-miR-129-3p	CLIP-seq
MIRT774533	hsa-miR-1299	CLIP-seq
MIRT774534	hsa-miR-1539	CLIP-seq
MIRT774535	hsa-miR-197	CLIP-seq
MIRT774536	hsa-miR-3187-3p	CLIP-seq
MIRT774537	hsa-miR-3193	CLIP-seq
MIRT774538	hsa-miR-3663-5p	CLIP-seq
MIRT774539	hsa-miR-3934	CLIP-seq
MIRT774540	hsa-miR-4435	CLIP-seq
MIRT774541	hsa-miR-4527	CLIP-seq
MIRT774542	hsa-miR-4701-5p	CLIP-seq
MIRT774543	hsa-miR-4716-5p	CLIP-seq
MIRT774544	hsa-miR-4755-3p	CLIP-seq
MIRT774545	hsa-miR-4781-3p	CLIP-seq
MIRT774546	hsa-miR-5096	CLIP-seq
MIRT774547	hsa-miR-520d-5p	CLIP-seq
MIRT774548	hsa-miR-524-5p	CLIP-seq
MIRT774549	hsa-miR-548s	CLIP-seq
MIRT774550	hsa-miR-561	CLIP-seq
MIRT774551	hsa-miR-588	CLIP-seq
MIRT774552	hsa-miR-595	CLIP-seq
MIRT774553	hsa-miR-640	CLIP-seq
MIRT774554	hsa-miR-671-5p	CLIP-seq
MIRT774555	hsa-miR-764	CLIP-seq
MIRT774556	hsa-miR-875-3p	CLIP-seq
MIRT774557	hsa-miR-1254	CLIP-seq
MIRT774558	hsa-miR-1293	CLIP-seq
MIRT774559	hsa-miR-129-5p	CLIP-seq
MIRT774560	hsa-miR-2861	CLIP-seq
MIRT774561	hsa-miR-3116	CLIP-seq
MIRT774562	hsa-miR-3149	CLIP-seq
MIRT774563	hsa-miR-4265	CLIP-seq
MIRT774564	hsa-miR-4296	CLIP-seq
MIRT774565	hsa-miR-4322	CLIP-seq
MIRT774566	hsa-miR-4417	CLIP-seq
MIRT774567	hsa-miR-4483	CLIP-seq
MIRT774568	hsa-miR-4687-3p	CLIP-seq
MIRT774569	hsa-miR-4698	CLIP-seq
MIRT774570	hsa-miR-661	CLIP-seq
MIRT1928609	hsa-miR-106a	CLIP-seq
MIRT1928610	hsa-miR-106b	CLIP-seq
MIRT1928611	hsa-miR-122	CLIP-seq
MIRT1928612	hsa-miR-1234	CLIP-seq
MIRT774531	hsa-miR-125a-3p	CLIP-seq
MIRT774533	hsa-miR-1299	CLIP-seq
MIRT1928613	hsa-miR-130a	CLIP-seq
MIRT1928614	hsa-miR-130b	CLIP-seq
MIRT1928615	hsa-miR-150	CLIP-seq
MIRT1928616	hsa-miR-17	CLIP-seq
MIRT1928617	hsa-miR-20a	CLIP-seq
MIRT1928618	hsa-miR-20b	CLIP-seq
MIRT1928619	hsa-miR-301a	CLIP-seq
MIRT1928620	hsa-miR-301b	CLIP-seq
MIRT1928621	hsa-miR-3135b	CLIP-seq
MIRT774536	hsa-miR-3187-3p	CLIP-seq
MIRT1928622	hsa-miR-3652	CLIP-seq
MIRT774538	hsa-miR-3663-5p	CLIP-seq
MIRT1928623	hsa-miR-3666	CLIP-seq
MIRT774539	hsa-miR-3934	CLIP-seq
MIRT1928624	hsa-miR-4295	CLIP-seq
MIRT1928625	hsa-miR-4430	CLIP-seq
MIRT774540	hsa-miR-4435	CLIP-seq
MIRT774541	hsa-miR-4527	CLIP-seq
MIRT1928626	hsa-miR-454	CLIP-seq
MIRT774542	hsa-miR-4701-5p	CLIP-seq
MIRT774544	hsa-miR-4755-3p	CLIP-seq
MIRT1928627	hsa-miR-4757-3p	CLIP-seq
MIRT1928628	hsa-miR-519d	CLIP-seq
MIRT1928629	hsa-miR-520g	CLIP-seq
MIRT1928630	hsa-miR-520h	CLIP-seq
MIRT774549	hsa-miR-548s	CLIP-seq
MIRT774551	hsa-miR-588	CLIP-seq
MIRT774553	hsa-miR-640	CLIP-seq
MIRT774555	hsa-miR-764	CLIP-seq
MIRT774556	hsa-miR-875-3p	CLIP-seq
MIRT1928631	hsa-miR-93	CLIP-seq
MIRT1928609	hsa-miR-106a	CLIP-seq
MIRT1928610	hsa-miR-106b	CLIP-seq
MIRT1928611	hsa-miR-122	CLIP-seq
MIRT1928612	hsa-miR-1234	CLIP-seq
MIRT774531	hsa-miR-125a-3p	CLIP-seq
MIRT2169369	hsa-miR-1266	CLIP-seq
MIRT774533	hsa-miR-1299	CLIP-seq
MIRT1928613	hsa-miR-130a	CLIP-seq
MIRT1928614	hsa-miR-130b	CLIP-seq
MIRT2169370	hsa-miR-143	CLIP-seq
MIRT1928615	hsa-miR-150	CLIP-seq
MIRT1928616	hsa-miR-17	CLIP-seq
MIRT2169371	hsa-miR-1915	CLIP-seq
MIRT774535	hsa-miR-197	CLIP-seq
MIRT1928617	hsa-miR-20a	CLIP-seq
MIRT1928618	hsa-miR-20b	CLIP-seq
MIRT2169372	hsa-miR-24	CLIP-seq
MIRT1928619	hsa-miR-301a	CLIP-seq
MIRT1928620	hsa-miR-301b	CLIP-seq
MIRT2169373	hsa-miR-302a	CLIP-seq
MIRT2169374	hsa-miR-302b	CLIP-seq
MIRT2169375	hsa-miR-302c	CLIP-seq
MIRT2169376	hsa-miR-302d	CLIP-seq
MIRT2169377	hsa-miR-302e	CLIP-seq
MIRT1928621	hsa-miR-3135b	CLIP-seq
MIRT774536	hsa-miR-3187-3p	CLIP-seq
MIRT1928622	hsa-miR-3652	CLIP-seq
MIRT774538	hsa-miR-3663-5p	CLIP-seq
MIRT1928623	hsa-miR-3666	CLIP-seq
MIRT2169378	hsa-miR-372	CLIP-seq
MIRT2169379	hsa-miR-373	CLIP-seq
MIRT774539	hsa-miR-3934	CLIP-seq
MIRT2169380	hsa-miR-4284	CLIP-seq
MIRT1928624	hsa-miR-4295	CLIP-seq
MIRT1928625	hsa-miR-4430	CLIP-seq
MIRT774540	hsa-miR-4435	CLIP-seq
MIRT2169381	hsa-miR-4518	CLIP-seq
MIRT774541	hsa-miR-4527	CLIP-seq
MIRT1928626	hsa-miR-454	CLIP-seq
MIRT774542	hsa-miR-4701-5p	CLIP-seq
MIRT774543	hsa-miR-4716-5p	CLIP-seq
MIRT774544	hsa-miR-4755-3p	CLIP-seq
MIRT1928627	hsa-miR-4757-3p	CLIP-seq
MIRT2169382	hsa-miR-4770	CLIP-seq
MIRT2169383	hsa-miR-4772-3p	CLIP-seq
MIRT774545	hsa-miR-4781-3p	CLIP-seq
MIRT774546	hsa-miR-5096	CLIP-seq
MIRT1928628	hsa-miR-519d	CLIP-seq
MIRT2169384	hsa-miR-520a-3p	CLIP-seq
MIRT2169385	hsa-miR-520b	CLIP-seq
MIRT2169386	hsa-miR-520c-3p	CLIP-seq
MIRT2169387	hsa-miR-520d-3p	CLIP-seq
MIRT2169388	hsa-miR-520e	CLIP-seq
MIRT1928629	hsa-miR-520g	CLIP-seq
MIRT1928630	hsa-miR-520h	CLIP-seq
MIRT774549	hsa-miR-548s	CLIP-seq
MIRT774551	hsa-miR-588	CLIP-seq
MIRT774553	hsa-miR-640	CLIP-seq
MIRT774555	hsa-miR-764	CLIP-seq
MIRT774556	hsa-miR-875-3p	CLIP-seq
MIRT1928631	hsa-miR-93	CLIP-seq
MIRT774559	hsa-miR-129-5p	CLIP-seq
MIRT774562	hsa-miR-3149	CLIP-seq
MIRT1928609	hsa-miR-106a	CLIP-seq
MIRT1928610	hsa-miR-106b	CLIP-seq
MIRT1928612	hsa-miR-1234	CLIP-seq
MIRT774559	hsa-miR-129-5p	CLIP-seq
MIRT1928615	hsa-miR-150	CLIP-seq
MIRT1928616	hsa-miR-17	CLIP-seq
MIRT2169371	hsa-miR-1915	CLIP-seq
MIRT1928617	hsa-miR-20a	CLIP-seq
MIRT1928618	hsa-miR-20b	CLIP-seq
MIRT2169373	hsa-miR-302a	CLIP-seq
MIRT2169374	hsa-miR-302b	CLIP-seq
MIRT2169375	hsa-miR-302c	CLIP-seq
MIRT2169376	hsa-miR-302d	CLIP-seq
MIRT2169377	hsa-miR-302e	CLIP-seq
MIRT2674793	hsa-miR-3186-5p	CLIP-seq
MIRT2169378	hsa-miR-372	CLIP-seq
MIRT2169379	hsa-miR-373	CLIP-seq
MIRT2674794	hsa-miR-4731-5p	CLIP-seq
MIRT2674795	hsa-miR-512-3p	CLIP-seq
MIRT1928628	hsa-miR-519d	CLIP-seq
MIRT2169384	hsa-miR-520a-3p	CLIP-seq
MIRT2169385	hsa-miR-520b	CLIP-seq
MIRT2169386	hsa-miR-520c-3p	CLIP-seq
MIRT2169387	hsa-miR-520d-3p	CLIP-seq
MIRT2169388	hsa-miR-520e	CLIP-seq
MIRT1928629	hsa-miR-520g	CLIP-seq
MIRT1928630	hsa-miR-520h	CLIP-seq
MIRT1928631	hsa-miR-93	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001895	Process	Retina homeostasis	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001918	Function	Farnesylated protein binding	IDA	14555765
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0005515	Function	Protein binding	IPI	12374762, 21044950, 32296183
GO:0005634	Component	Nucleus	IDA	12374762
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10615133
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	12374762
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10615133
GO:0007603	Process	Phototransduction, visible light	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0018343	Process	Protein farnesylation	IDA	14555765
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	10615133

MIM	HGNC	e!Ensembl
604392	359	ENSG00000129221

Q9NZN9

Protein name

Aryl-hydrocarbon-interacting protein-like 1

Protein function

May be important in protein trafficking and/or protein folding and stabilization.

PDB

5U9A , 5U9I , 5U9J , 5U9K , 5V35 , 6PX0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	26 → 154	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. {ECO:0000269|PubMed:12374762}.

Sequence

MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMH
IIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHT
CGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPV
LHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCL
LKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKA
VRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSA
ELSAGPPAEPATEPPPSPGHSLQH

Sequence length

384

Interactions

View interactions

	KEGG
	Cushing syndrome Chemical carcinogenesis - receptor activation

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
Abnormality of the eye	Likely pathogenic	rs2150675170	RCV001814356	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AIPL1-related disorder	Pathogenic	rs62637014, rs142326926, rs751881283	RCV000365317 RCV005625259 RCV004733170	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AIPL1-related retinopathy	Pathogenic; Likely pathogenic	rs140808549, rs62637009, rs765411357, rs150097891, rs201883601, rs62637014, rs62637016, rs62637012, rs2543878362, rs1336690304, rs1264794214, rs62637010, rs142326926, rs775364986, rs752193525, rs776024427, rs773387922, rs200125117 View all (3 more)	RCV005646860 RCV005646863 RCV005647395 RCV005647396 RCV005647404 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy 2	Likely pathogenic; Pathogenic	rs1597331616	RCV000790980	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONE-ROD DYSTROPHY, AIPL1-RELATED	Pathogenic	rs142326926	RCV005625259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile retinitis pigmentosa, AIPL1-related	Pathogenic	rs142326926	RCV005625259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs62637014, rs62637012, rs2543878362, rs748210823, rs1208703297, rs758001091, rs62637010, rs1468041544, rs775364986, rs752193525, rs201883601, rs200125117	RCV000505017 RCV004585988 RCV005419655 RCV001199638 RCV002509532 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 4	Pathogenic; Likely pathogenic	rs140808549, rs62637009, rs1912058703, rs2150677132, rs887335730, rs2150674258, rs765411357, rs150097891, rs2150674982, rs2150678060, rs1912228419, rs2150675032, rs201883601, rs62637014, rs62637016 View all (41 more)	RCV001172395 RCV003505096 RCV001383804 RCV001591896 RCV001861049 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs62637014, rs758001091, rs776024427	RCV001074840 RCV004794454 RCV001075646	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs150097891, rs62637014, rs1597331616, rs1597340989, rs201883601	RCV002497862 RCV002496274 RCV000790979 RCV001002866 RCV002489728	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

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.
Abnormality of neuronal migration	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS AND LOW VISION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser syndrome 3	Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber congenital amaurosis 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly due to TUBA1A mutation	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia 25, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	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	Pubtator	21900377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	10873396, 11420621, 11929855, 12374762, 12881340, 14555765, 14611946, 15081406, 15249368, 15347646, 15469903, 16052170, 16505055, 16936081, 18408180 View all (18 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	40141357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	32976546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16020312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	14611946, 28739921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	15249368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	40141357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	39986747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	22347407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	24108108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	19710705, 25274777, 26139345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	25148430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	10873396		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19710705, 25274777, 26139345		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)	Cone Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)	Cone Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37318461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	25148430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	15249368, 16936081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	32976546	Associate	★★★★★ ★☆☆☆☆ 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
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	10711674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	15249368, 19407021, 30578499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	16020312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	10615133, 30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	10615133, 10711674, 12881340, 14611946, 15024725, 15347646, 16052170, 16505055, 18055820, 18936139, 19753312, 19959640, 21602930, 21900377, 22347407 View all (10 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	11420621, 12374762, 12881340, 14555765, 15081406, 15249368, 15347646, 15365173, 15469903, 16020312, 16052170, 18408180, 19299492, 19710705, 19758987 View all (15 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	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	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 4	Leber Congenital Amaurosis	CLINVAR_DG	10615133, 10873396, 15249368, 15347646, 20702822, 21153841, 21474771, 22412862, 23737531, 25799540, 27268253, 28973376		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 4	Leber Congenital Amaurosis	UNIPROT_DG	10615133, 12374762, 17724218		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 4	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	10873396, 25148430		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 4	Leber Congenital Amaurosis	BEFREE	21474771, 23737531, 28378769		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 4	Leber congenital amaurosis	Pubtator	36982987	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 4	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular Degeneration	Macular degeneration	Pubtator	22412862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	25148430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	16020312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25799540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	15347646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	24426771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10873396, 11420621, 15365173, 26139345, 27268253, 28973376, 29721967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	19299492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	12881340, 16272259, 16505055, 32976546	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16020312, 19299492, 19710705, 20079931		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16272259		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	16272259		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa, Juvenile, Aipl1-Related	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Juvenile, Aipl1-Related	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	11929855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	19710705, 25274777, 26139345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32214115, 36982987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AIPL1 (AIP like 1 HSP90 co-chaperone)