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	7287
Gene name	TUB like protein 1
Gene symbol	TULP1
Synonyms (NCBI Gene)	LCA15RP14TUBL1
Chromosome	6
Chromosome location	6p21.31
Summary	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

207

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

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

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 (14)

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	Pathogenic	rs201070350	RCV001814258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs281865168, rs201070350	RCV001257785 RCV001257786	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly	Likely pathogenic; Pathogenic	rs387906836	RCV000852373	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs62636511, rs281865171, rs551519696, rs2150926986, rs121909075, rs121909076, rs2533809243, rs387906836, rs387906837, rs1554125752, rs373519519, rs1581736099, rs1581740762, rs1581742633, rs1581743256 View all (4 more)	RCV004689604 RCV002228330 RCV006269497 RCV002210942 RCV005406730 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 1	Pathogenic; Likely pathogenic	rs1327062642, rs773968778, rs1581736024, rs373519519	RCV000659268 RCV000987685 RCV000987686 RCV000987688	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 15	Likely pathogenic; Pathogenic	rs1387418594, rs1279906432, rs757725696, rs62636511, rs281865168, rs281865171, rs62636292, rs281865166, rs775334320, rs2150926986, rs1581734819, rs387906835, rs387906836, rs387906837, rs2150921548 View all (19 more)	RCV005038083 RCV005038158 RCV005038159 RCV005031592 RCV000454167 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, postaxial, type A1	Likely pathogenic; Pathogenic	rs387906836	RCV000852373	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal degeneration	Likely pathogenic; Pathogenic	rs387906836	RCV000852373	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs62636511, rs281865168, rs281865171, rs775334320, rs1237263305, rs121909076, rs1581742970, rs1761188243, rs387906836, rs387906837, rs763272975, rs1581735836, rs1761021773, rs751589956, rs766181526 View all (4 more)	RCV004794360 RCV001075035 RCV001073440 RCV003888081 RCV004817185 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs281865171, rs2150927932, rs121909076, rs2533807303, rs1554125521, rs1554125752, rs1581744084, rs1581738478, rs763272975, rs1309100490, rs1761147951	RCV000787923 RCV001724833 RCV000132649 RCV003324681 RCV001199561 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 14	Likely pathogenic; Pathogenic	rs1387418594, rs2150921584, rs1279906432, rs757725696, rs62636511, rs281865168, rs281865171, rs62636292, rs281865166, rs775334320, rs201836697, rs2150925640, rs2533811446, rs1237263305, rs121909073 View all (20 more)	RCV005038083 RCV001376467 RCV001376468 RCV001376483 RCV001542663 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Pathogenic	rs1761021773	RCV001199560	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly	Likely pathogenic; Pathogenic	rs387906836	RCV000852373	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TULP1-related disorder	Likely pathogenic; Pathogenic	rs1279906432, rs757725696	RCV004531183 RCV004531184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

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	BEFREE	17962469, 20079931, 24547928, 26987071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	CLINVAR_DG	29178942		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophoderma maculatum	Anetoderma	CLINVAR_DG	29178942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	40141211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25074776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	36769033, 37165311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	9096357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	9096357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	CLINVAR_DG	29178942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	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
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22841784	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	BEFREE	10440267, 17962469, 18432314, 23499059, 24547928, 26987071		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	15024725, 18432314, 18936139, 31087526	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	17962469, 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			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 15	Leber Congenital Amaurosis	UNIPROT_DG	15024725, 17962469		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 15	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 15	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 15	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	26211651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG	29178942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	30090012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	26448634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Congenital	Nystagmus	Pubtator	30090012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	26448634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10607826, 9462751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	26448634		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	19718693, 31087526, 36769033	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Diseases	Retinal Diseases	BEFREE	17962469, 25074776, 26448634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	31877759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10607826, 17620573, 18432314, 20079931, 21987678, 22665969, 23499059, 24547928, 24664738, 26987071, 27440997, 29843741, 9462750, 9521870		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	16643894, 18432314, 19339744, 21792230, 21987678, 22605927, 22665969, 23484092, 25268133, 27440997, 29843741, 33907372, 37165311, 9521870	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	17620573		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 14	Retinitis Pigmentosa	UNIPROT_DG	15557452, 17620573, 19837063, 9462750, 9660588		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 14	Retinitis Pigmentosa	BEFREE	9096357		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 14	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 14	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 14	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	25342276, 9096357		★★★★★ ★☆☆☆☆ 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
Syndactyly	Syndactyly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vision Disorders	Visual disorder	Pubtator	40141211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TULP1 (TUB like protein 1)