Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7287
Gene name Gene Name - the full gene name approved by the HGNC.	TUB like protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TULP1
Synonyms (NCBI Gene) Gene synonyms aliases	LCA15, RP14, TUBL1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protei

Show/Hide all(36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113772629	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs121909073	C>G,T	Uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs121909074	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909075	A>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs121909076	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909077	G>A	Pathogenic	Missense variant, coding sequence variant
rs141980901	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201070350	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs281865168	C>G,T	Pathogenic, not-provided	Splice donor variant
rs373519519	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs387906835	C>A	Pathogenic	Coding sequence variant, stop gained
rs387906836	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906837	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs527236117	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs568898016	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs763272975	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs767030473	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs770045008	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs771723580	TTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205650	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042038	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307806	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1313593155	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1327062642	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1554125521	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554125752	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581735836	->A	Pathogenic	Splice donor variant
rs1581736024	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581736099	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581738478	C>T	Pathogenic	Missense variant, coding sequence variant
rs1581740762	->GGGA	Pathogenic	Coding sequence variant, frameshift variant
rs1581742615	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581742633	->GGAG	Pathogenic	Coding sequence variant, frameshift variant
rs1581742970	A>G	Pathogenic	Splice donor variant
rs1581743256	->A	Pathogenic	Stop gained, coding sequence variant
rs1581744084	C>A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT464981	hsa-miR-3118	PAR-CLIP	20371350
MIRT464980	hsa-miR-134-5p	PAR-CLIP	20371350
MIRT464978	hsa-miR-4779	PAR-CLIP	20371350
MIRT464979	hsa-miR-6777-5p	PAR-CLIP	20371350
MIRT464977	hsa-miR-6889-5p	PAR-CLIP	20371350
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	20371350
MIRT464975	hsa-miR-4706	PAR-CLIP	20371350
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	20371350
MIRT464973	hsa-miR-765	PAR-CLIP	20371350
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT464970	hsa-miR-3178	PAR-CLIP	20371350
MIRT464969	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT464968	hsa-miR-3180	PAR-CLIP	20371350
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	20371350
MIRT464965	hsa-miR-3196	PAR-CLIP	20371350
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	20371350
MIRT464964	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT464972	hsa-miR-5787	PAR-CLIP	20371350
MIRT464981	hsa-miR-3118	PAR-CLIP	24398324
MIRT464980	hsa-miR-134-5p	PAR-CLIP	24398324
MIRT464978	hsa-miR-4779	PAR-CLIP	24398324
MIRT464979	hsa-miR-6777-5p	PAR-CLIP	24398324
MIRT464977	hsa-miR-6889-5p	PAR-CLIP	24398324
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	24398324
MIRT464975	hsa-miR-4706	PAR-CLIP	24398324
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	24398324
MIRT464973	hsa-miR-765	PAR-CLIP	24398324
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT464970	hsa-miR-3178	PAR-CLIP	24398324
MIRT464969	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT464968	hsa-miR-3180	PAR-CLIP	24398324
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	24398324
MIRT464965	hsa-miR-3196	PAR-CLIP	24398324
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	24398324
MIRT464964	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT464972	hsa-miR-5787	PAR-CLIP	24398324
MIRT464981	hsa-miR-3118	PAR-CLIP	23592263
MIRT464980	hsa-miR-134-5p	PAR-CLIP	23592263
MIRT464978	hsa-miR-4779	PAR-CLIP	23592263
MIRT464979	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT464977	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT464975	hsa-miR-4706	PAR-CLIP	23592263
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT464973	hsa-miR-765	PAR-CLIP	23592263
MIRT464972	hsa-miR-5787	PAR-CLIP	23592263
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT464970	hsa-miR-3178	PAR-CLIP	23592263
MIRT464969	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT464968	hsa-miR-3180	PAR-CLIP	23592263
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT464965	hsa-miR-3196	PAR-CLIP	23592263
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT464964	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT464980	hsa-miR-134-5p	PAR-CLIP	27292025
MIRT464980	hsa-miR-134-5p	PAR-CLIP	27292025
MIRT464980	hsa-miR-134-5p	PAR-CLIP	27292025
MIRT464980	hsa-miR-134-5p	PAR-CLIP	27292025
MIRT464980	hsa-miR-134-5p	PAR-CLIP	27292025
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	27292025
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	27292025
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	27292025
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	27292025
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	27292025
MIRT464981	hsa-miR-3118	PAR-CLIP	27292025
MIRT464981	hsa-miR-3118	PAR-CLIP	27292025
MIRT464981	hsa-miR-3118	PAR-CLIP	27292025
MIRT464981	hsa-miR-3118	PAR-CLIP	27292025
MIRT464981	hsa-miR-3118	PAR-CLIP	27292025
MIRT464970	hsa-miR-3178	PAR-CLIP	27292025
MIRT464970	hsa-miR-3178	PAR-CLIP	27292025
MIRT464970	hsa-miR-3178	PAR-CLIP	27292025
MIRT464970	hsa-miR-3178	PAR-CLIP	27292025
MIRT464970	hsa-miR-3178	PAR-CLIP	27292025
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	27292025
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	27292025
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	27292025
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	27292025
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	27292025
MIRT464968	hsa-miR-3180	PAR-CLIP	27292025
MIRT464968	hsa-miR-3180	PAR-CLIP	27292025
MIRT464968	hsa-miR-3180	PAR-CLIP	27292025
MIRT464968	hsa-miR-3180	PAR-CLIP	27292025
MIRT464968	hsa-miR-3180	PAR-CLIP	27292025
MIRT464965	hsa-miR-3196	PAR-CLIP	27292025
MIRT464965	hsa-miR-3196	PAR-CLIP	27292025
MIRT464965	hsa-miR-3196	PAR-CLIP	27292025
MIRT464965	hsa-miR-3196	PAR-CLIP	27292025
MIRT464965	hsa-miR-3196	PAR-CLIP	27292025
MIRT464964	hsa-miR-328-5p	PAR-CLIP	27292025
MIRT464964	hsa-miR-328-5p	PAR-CLIP	27292025
MIRT464964	hsa-miR-328-5p	PAR-CLIP	27292025
MIRT464964	hsa-miR-328-5p	PAR-CLIP	27292025
MIRT464964	hsa-miR-328-5p	PAR-CLIP	27292025
MIRT464975	hsa-miR-4706	PAR-CLIP	27292025
MIRT464975	hsa-miR-4706	PAR-CLIP	27292025
MIRT464975	hsa-miR-4706	PAR-CLIP	27292025
MIRT464975	hsa-miR-4706	PAR-CLIP	27292025
MIRT464975	hsa-miR-4706	PAR-CLIP	27292025
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	27292025
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	27292025
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	27292025
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	27292025
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	27292025
MIRT464978	hsa-miR-4779	PAR-CLIP	27292025
MIRT464978	hsa-miR-4779	PAR-CLIP	27292025
MIRT464978	hsa-miR-4779	PAR-CLIP	27292025
MIRT464978	hsa-miR-4779	PAR-CLIP	27292025
MIRT464978	hsa-miR-4779	PAR-CLIP	27292025
MIRT464972	hsa-miR-5787	PAR-CLIP	27292025
MIRT464972	hsa-miR-5787	PAR-CLIP	27292025
MIRT464972	hsa-miR-5787	PAR-CLIP	27292025
MIRT464972	hsa-miR-5787	PAR-CLIP	27292025
MIRT464972	hsa-miR-5787	PAR-CLIP	27292025
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	27292025
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	27292025
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	27292025
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	27292025
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	27292025
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	27292025
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	27292025
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	27292025
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	27292025
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	27292025
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT464973	hsa-miR-765	PAR-CLIP	27292025
MIRT464973	hsa-miR-765	PAR-CLIP	27292025
MIRT464973	hsa-miR-765	PAR-CLIP	27292025
MIRT464973	hsa-miR-765	PAR-CLIP	27292025
MIRT464973	hsa-miR-765	PAR-CLIP	27292025
MIRT464981	hsa-miR-3118	PAR-CLIP	20371350
MIRT464980	hsa-miR-134-5p	PAR-CLIP	20371350
MIRT464978	hsa-miR-4779	PAR-CLIP	20371350
MIRT464979	hsa-miR-6777-5p	PAR-CLIP	20371350
MIRT464977	hsa-miR-6889-5p	PAR-CLIP	20371350
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	20371350
MIRT464975	hsa-miR-4706	PAR-CLIP	20371350
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	20371350
MIRT464973	hsa-miR-765	PAR-CLIP	20371350
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT464970	hsa-miR-3178	PAR-CLIP	20371350
MIRT464969	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT464968	hsa-miR-3180	PAR-CLIP	20371350
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	20371350
MIRT464965	hsa-miR-3196	PAR-CLIP	20371350
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	20371350
MIRT464964	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT464972	hsa-miR-5787	PAR-CLIP	20371350
MIRT464981	hsa-miR-3118	PAR-CLIP	24398324
MIRT464980	hsa-miR-134-5p	PAR-CLIP	24398324
MIRT464978	hsa-miR-4779	PAR-CLIP	24398324
MIRT464979	hsa-miR-6777-5p	PAR-CLIP	24398324
MIRT464977	hsa-miR-6889-5p	PAR-CLIP	24398324
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	24398324
MIRT464975	hsa-miR-4706	PAR-CLIP	24398324
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	24398324
MIRT464973	hsa-miR-765	PAR-CLIP	24398324
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT464970	hsa-miR-3178	PAR-CLIP	24398324
MIRT464969	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT464968	hsa-miR-3180	PAR-CLIP	24398324
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	24398324
MIRT464965	hsa-miR-3196	PAR-CLIP	24398324
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	24398324
MIRT464964	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT464972	hsa-miR-5787	PAR-CLIP	24398324
MIRT464981	hsa-miR-3118	PAR-CLIP	23592263
MIRT464980	hsa-miR-134-5p	PAR-CLIP	23592263
MIRT464978	hsa-miR-4779	PAR-CLIP	23592263
MIRT464979	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT464977	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT464976	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT464975	hsa-miR-4706	PAR-CLIP	23592263
MIRT464974	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT464973	hsa-miR-765	PAR-CLIP	23592263
MIRT464972	hsa-miR-5787	PAR-CLIP	23592263
MIRT464971	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT464970	hsa-miR-3178	PAR-CLIP	23592263
MIRT464969	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT464968	hsa-miR-3180	PAR-CLIP	23592263
MIRT464967	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT464965	hsa-miR-3196	PAR-CLIP	23592263
MIRT464966	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT464964	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT464963	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT1463774	hsa-miR-134	CLIP-seq
MIRT1463775	hsa-miR-1827	CLIP-seq
MIRT1463776	hsa-miR-2682	CLIP-seq
MIRT1463777	hsa-miR-34a	CLIP-seq
MIRT1463778	hsa-miR-34c-5p	CLIP-seq
MIRT1463779	hsa-miR-449a	CLIP-seq
MIRT1463780	hsa-miR-449b	CLIP-seq
MIRT1463781	hsa-miR-449c	CLIP-seq
MIRT1463782	hsa-miR-4523	CLIP-seq
MIRT1463783	hsa-miR-4690-3p	CLIP-seq
MIRT2462670	hsa-miR-361-3p	CLIP-seq
MIRT2462671	hsa-miR-4640-3p	CLIP-seq
MIRT2462672	hsa-miR-4667-3p	CLIP-seq

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001895	Process	Retina homeostasis	IMP	15557452
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	16303976
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	16303976
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0006910	Process	Phagocytosis, recognition	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9462750
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016358	Process	Dendrite development	ISS
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042462	Process	Eye photoreceptor cell development	ISS
GO:0042995	Component	Cell projection	IDA	16303976
GO:0043679	Component	Axon terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0050766	Process	Positive regulation of phagocytosis	IDA	19837063
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	15557452
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	16303976
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061512	Process	Protein localization to cilium	IBA
GO:1903546	Process	Protein localization to photoreceptor outer segment	IEA

MIM	HGNC	e!Ensembl
602280	12423	ENSG00000112041

Protein

UniProt ID

O00294

Protein name

Tubby-related protein 1 (Tubby-like protein 1)

Protein function

Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photorecept

PDB

2FIM , 3C5N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01167	Tub	297 → 537	Tub family	Domain

Tissue specificity

TISSUE SPECIFICITY: Retina-specific.

Sequence

MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPR
KPGAGRTGRPREEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEE
EEEDEEDEEEEAEEKKEKILLPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLR
VRNKEAPAGEGTKMRKTKKKGSGEADKDPSGSPASARKSPAAMFLVGEGSPDKKALKKKG
TPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEERAPSPPVEVDEPREFVLRPAP
QGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANYLISIDPTNLS
RGGENFIGKLRSNLLGNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRR
MTVIIPGMSAENERVPIRPRNASDGLLVRWQNKTLESLIELHNKPPVWNDDSGSYTLNFQ
GRVTQASVKNFQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCALQAFAIALSSFDGKLA
CE

Sequence length

542

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis 15, leber congenital amaurosis, Leber congenital amaurosis 1	rs2147483647, rs281865171, rs201070350, rs281865166, rs1581734819, rs62636511, rs1581740762, rs1581742615, rs1581742633, rs748972748, rs767030473, rs1581743256, rs387906835, rs281865168, rs1327062642 View all (9 more)	N/A
retinal dystrophy	Retinal dystrophy	rs766181526, rs121909076, rs774204108, rs763272975, rs760829254, rs62636511, rs1305999116, rs1581742970, rs1331834680, rs281865168, rs1581735836, rs387906836, rs751589956, rs281865171, rs1761021773, rs387906837 View all (1 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa 14, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs281865171, rs1581738478, rs201070350, rs763272975, rs1581734819, rs62636511, rs774204108, rs281865166, rs1581742970, rs1554125521, rs281865168, rs121909073, rs748972748, rs1581744084, rs121909075, rs121909076, rs751589956 View all (2 more)	N/A
Stargardt Disease	stargardt disease	rs1761021773	N/A

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alcohol Related Disorders	Associate	40141211
Breast Neoplasms	Associate	40141211
Cone Dystrophy	Associate	36769033, 37165311
Cone Rod Dystrophies	Associate	30090012
Disease	Associate	36769033
Hepatitis C	Associate	22841784
Hypertensive Retinopathy	Associate	26448634, 40141211
Leber Congenital Amaurosis	Associate	15024725, 18432314, 18936139, 31087526
Myopia	Associate	30090012
Nerve Degeneration	Associate	40141211
Night Blindness	Associate	30090012
Nystagmus Congenital	Associate	30090012
Nystagmus Pathologic	Associate	26448634
Optic Nerve Diseases	Associate	26448634
Refsum Disease Infantile	Associate	36769033
Retinal Degeneration	Associate	19718693, 31087526, 36769033
Retinal Diseases	Associate	31877759
Retinal Dystrophies	Associate	23484092, 24375934, 30090012, 30950243, 33173045, 34588515, 36769033, 37127645, 37165311
Retinitis Pigmentosa	Associate	16643894, 18432314, 19339744, 21792230, 21987678, 22605927, 22665969, 23484092, 25268133, 27440997, 29843741, 33907372, 37165311, 9521870
Uniparental Disomy	Associate	30090012
Vision Disorders	Associate	40141211

TULP1 (TUB like protein 1)