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

859

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic	rs2150675170	RCV001814356
AIPL1-related disorder	Pathogenic	rs62637014, rs142326926, rs751881283	RCV000365317 RCV005625259 RCV004733170
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 RCV004786238 RCV005646839 RCV005646840 RCV005647409 RCV005647410 RCV005646986 RCV005646851 RCV005646852 RCV005647366 RCV005647367 RCV005647370 RCV005647371 RCV005647376
Cone-rod dystrophy 2	Likely pathogenic; Pathogenic	rs1597331616	RCV000790980
CONE-ROD DYSTROPHY, AIPL1-RELATED	Pathogenic	rs142326926	RCV005625259
Juvenile retinitis pigmentosa, AIPL1-related	Pathogenic	rs142326926	RCV005625259
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs62637014, rs62637012, rs2543878362, rs748210823, rs1208703297, rs758001091, rs62637010, rs1468041544, rs775364986, rs752193525, rs201883601, rs200125117	RCV000505017 RCV004585988 RCV005419655 RCV001199638 RCV002509532 RCV000787530 RCV005430958 RCV001002864 RCV001002865 RCV001199639 RCV002222668 RCV003987790
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 RCV001808097 RCV001940650 RCV002007326 RCV001993339 RCV001922675 RCV001956316 RCV002250978 RCV003074985 RCV000005906 RCV000005907 RCV000005908 RCV002834349 RCV002876610 RCV002848016 RCV003152894 RCV003506503 RCV003506581 RCV003506582 RCV003506583 RCV003504839 RCV003505632 RCV003614482 RCV003613535 RCV003614000 RCV003614603 RCV003614918 RCV003615038 RCV000696451 RCV000685799 RCV001390292 RCV003485643 RCV000790981 RCV000055939 RCV000055941 RCV001380823 RCV001172386 RCV005056744 RCV001052372 RCV001376195 RCV001172396 RCV001172392 RCV001172398 RCV001172390 RCV001172389 RCV001172388 RCV001172393 RCV001172385 RCV001172394 RCV001172391 RCV001172397 RCV001172387 RCV001172384
Retinal dystrophy	Pathogenic; Likely pathogenic	rs62637014, rs758001091, rs776024427	RCV001074840 RCV004794454 RCV001075646
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs150097891, rs62637014, rs1597331616, rs1597340989, rs201883601	RCV002497862 RCV002496274 RCV000790979 RCV001002866 RCV002489728

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Benign	rs863223363	RCV000201363
Fraser syndrome 3	Likely benign	rs751881283	RCV001251014
Leber congenital amaurosis 1	Benign; Conflicting classifications of pathogenicity	rs12449580, rs16955851, rs62637015	RCV000989686 RCV000989685 RCV000989684
Lissencephaly due to TUBA1A mutation	Benign	rs62619924	RCV001258272
Malignant tumor of esophagus	Benign	rs62061020	RCV005922132
Myopia 25, autosomal dominant	Conflicting classifications of pathogenicity	rs62637015	RCV005864450
Retinitis Pigmentosa, Dominant	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs62653020, rs11650007, rs12449580, rs2292546, rs62637018, rs140124986, rs188246267, rs181055698, rs886053255, rs886053259, rs11869118, rs111456528, rs559951043, rs112307858, rs77115868 View all (36 more)	RCV000345097 RCV000393168 RCV000350965 RCV000287948 RCV000353479 RCV000360989 RCV000325640 RCV000387971 RCV000347167 RCV000346532 RCV000300237 RCV000320443 RCV000305002 RCV000380964 RCV000332498 RCV000366287 RCV000373713 RCV000344923 RCV000395151 RCV000284684 RCV000375448 RCV000402337 RCV000271286 RCV000268743 RCV000319335 RCV000316870 RCV000329669 RCV000401270 RCV000277185 RCV000285248 RCV000270465 RCV000400033 RCV000347653 RCV000323291 RCV000310392 RCV000357023 RCV000268379 RCV000361638 RCV000354189 RCV000259688 RCV000297859 RCV000277065 RCV000351354 RCV000340884 RCV000328866 RCV000395557 RCV000398512 RCV000385713 RCV000339003 RCV000406818 RCV000274581 RCV000348234
Retinitis Pigmentosa, Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs62653020, rs62637017, rs11650007, rs12453262, rs117749485, rs8069375, rs62637018, rs140124986, rs8075035, rs181630986, rs188246267, rs181055698, rs886053256, rs886053259, rs886053260 View all (45 more)	RCV000306547 RCV000311702 RCV000358078 RCV000268231 RCV000338386 RCV000300344 RCV000263430 RCV000303893 RCV000309547 RCV000363323 RCV000296424 RCV000348629 RCV000301797 RCV000385234 RCV000339846 RCV000259320 RCV000289361 RCV000399464 RCV000267562 RCV000398404 RCV000289957 RCV000269108 RCV000271709 RCV000379251 RCV000396827 RCV000335969 RCV000288480 RCV000278527 RCV000377368 RCV000356241 RCV000387721 RCV000341931 RCV000367277 RCV000339053 RCV000395561 RCV000369874 RCV000355535 RCV000290629 RCV000376687 RCV000333834 RCV000380213 RCV000398439 RCV000399064 RCV000363150 RCV000297569 RCV000358585 RCV000267113 RCV000276531 RCV000317213 RCV000354948 RCV000267023 RCV000316539 RCV000298029 RCV000280028 RCV000290656 RCV000383056 RCV000284443 RCV000272805 RCV000386776 RCV000308327 RCV000309574

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amaurosis congenita of Leber type 1	Associate	21900377
Anophthalmos	Associate	40141357
Anterior segment mesenchymal dysgenesis	Associate	32976546
Blindness	Associate	14611946, 28739921
Cataract	Associate	40141357
Cognitive Dysfunction	Associate	39986747
Color Vision Defects	Associate	22347407
Cone Rod Dystrophies	Associate	24426771
Diabetic Retinopathy	Associate	37318461
Drug Related Side Effects and Adverse Reactions	Associate	26015512
Eye Diseases	Associate	32976546
Keratoconus	Associate	10711674
Leber Congenital Amaurosis	Associate	10615133, 10711674, 12881340, 14611946, 15024725, 15347646, 16052170, 16505055, 18055820, 18936139, 19753312, 19959640, 21602930, 21900377, 22347407 View all (10 more)
Leber Congenital Amaurosis 4	Associate	36982987
Leber congenital amaurosis type 4	Associate	32214115, 36982987
Macular Degeneration	Associate	22412862
Refsum Disease Infantile	Associate	40141357
Retinal Degeneration	Associate	24426771
Retinal Dystrophies	Associate	32214115, 39986747
Retinitis	Associate	22412862
Retinitis Pigmentosa	Associate	12881340, 16272259, 16505055, 32976546
Vision Disorders	Associate	32214115, 36982987

AIPL1 (AIP like 1 HSP90 co-chaperone)