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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23513
Gene name	Scribble planar cell polarity protein
Gene symbol	SCRIB
Synonyms (NCBI Gene)	CRIB1SCRB1SCRIB1VartuloSCRIB
Chromosome	8
Chromosome location	8q24.3
Summary	This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many

Show/Hide all (80)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006438	hsa-miR-296-5p	Luciferase reporter assay	21643016
MIRT006438	hsa-miR-296-5p	Luciferase reporter assay	21643016
MIRT006438	hsa-miR-296-5p	Luciferase reporter assay	21643016
MIRT006438	hsa-miR-296-5p	Luciferase reporter assay	21643016
MIRT044993	hsa-miR-186-5p	CLASH	23622248
MIRT041556	hsa-miR-193b-3p	CLASH	23622248
MIRT041556	hsa-miR-193b-3p	CLASH	23622248
MIRT039044	hsa-miR-766-3p	CLASH	23622248
MIRT038838	hsa-miR-93-3p	CLASH	23622248
MIRT037202	hsa-miR-877-3p	CLASH	23622248
MIRT1330618	hsa-miR-1914	CLIP-seq
MIRT1330619	hsa-miR-1972	CLIP-seq
MIRT1330620	hsa-miR-513a-5p	CLIP-seq
MIRT1330621	hsa-miR-1307	CLIP-seq
MIRT1330618	hsa-miR-1914	CLIP-seq
MIRT1330619	hsa-miR-1972	CLIP-seq
MIRT1330622	hsa-miR-3121-3p	CLIP-seq
MIRT1330623	hsa-miR-3151	CLIP-seq
MIRT1330624	hsa-miR-323b-5p	CLIP-seq
MIRT1330625	hsa-miR-342-5p	CLIP-seq
MIRT1330626	hsa-miR-34c-3p	CLIP-seq
MIRT1330627	hsa-miR-3613-5p	CLIP-seq
MIRT1330628	hsa-miR-4279	CLIP-seq
MIRT1330629	hsa-miR-4447	CLIP-seq
MIRT1330630	hsa-miR-4472	CLIP-seq
MIRT1330631	hsa-miR-4505	CLIP-seq
MIRT1330632	hsa-miR-4638-5p	CLIP-seq
MIRT1330633	hsa-miR-4651	CLIP-seq
MIRT1330634	hsa-miR-4664-5p	CLIP-seq
MIRT1330635	hsa-miR-4731-5p	CLIP-seq
MIRT1330636	hsa-miR-486-3p	CLIP-seq
MIRT1330637	hsa-miR-491-5p	CLIP-seq
MIRT1330638	hsa-miR-499-3p	CLIP-seq
MIRT1330639	hsa-miR-499a-3p	CLIP-seq
MIRT1330620	hsa-miR-513a-5p	CLIP-seq
MIRT1330640	hsa-miR-582-5p	CLIP-seq
MIRT1330641	hsa-miR-608	CLIP-seq
MIRT1330642	hsa-miR-615-5p	CLIP-seq
MIRT1330621	hsa-miR-1307	CLIP-seq
MIRT1330619	hsa-miR-1972	CLIP-seq
MIRT1330623	hsa-miR-3151	CLIP-seq
MIRT1330625	hsa-miR-342-5p	CLIP-seq
MIRT2097874	hsa-miR-3662	CLIP-seq
MIRT1330631	hsa-miR-4505	CLIP-seq
MIRT1330632	hsa-miR-4638-5p	CLIP-seq
MIRT1330633	hsa-miR-4651	CLIP-seq
MIRT1330634	hsa-miR-4664-5p	CLIP-seq
MIRT1330635	hsa-miR-4731-5p	CLIP-seq
MIRT1330636	hsa-miR-486-3p	CLIP-seq
MIRT1330620	hsa-miR-513a-5p	CLIP-seq
MIRT1330640	hsa-miR-582-5p	CLIP-seq
MIRT1330641	hsa-miR-608	CLIP-seq
MIRT1330618	hsa-miR-1914	CLIP-seq
MIRT1330619	hsa-miR-1972	CLIP-seq
MIRT1330623	hsa-miR-3151	CLIP-seq
MIRT1330625	hsa-miR-342-5p	CLIP-seq
MIRT1330629	hsa-miR-4447	CLIP-seq
MIRT1330630	hsa-miR-4472	CLIP-seq
MIRT1330633	hsa-miR-4651	CLIP-seq
MIRT1330634	hsa-miR-4664-5p	CLIP-seq
MIRT2322233	hsa-miR-4753-3p	CLIP-seq
MIRT1330636	hsa-miR-486-3p	CLIP-seq
MIRT1330637	hsa-miR-491-5p	CLIP-seq
MIRT1330620	hsa-miR-513a-5p	CLIP-seq
MIRT1330641	hsa-miR-608	CLIP-seq
MIRT1330642	hsa-miR-615-5p	CLIP-seq
MIRT1330621	hsa-miR-1307	CLIP-seq
MIRT1330623	hsa-miR-3151	CLIP-seq
MIRT1330625	hsa-miR-342-5p	CLIP-seq
MIRT1330626	hsa-miR-34c-3p	CLIP-seq
MIRT1330631	hsa-miR-4505	CLIP-seq
MIRT1330632	hsa-miR-4638-5p	CLIP-seq
MIRT1330633	hsa-miR-4651	CLIP-seq
MIRT1330634	hsa-miR-4664-5p	CLIP-seq
MIRT1330635	hsa-miR-4731-5p	CLIP-seq
MIRT1330636	hsa-miR-486-3p	CLIP-seq
MIRT1330638	hsa-miR-499-3p	CLIP-seq
MIRT1330639	hsa-miR-499a-3p	CLIP-seq
MIRT1330640	hsa-miR-582-5p	CLIP-seq
MIRT1330641	hsa-miR-608	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001768	Process	Establishment of T cell polarity	IEA
GO:0001768	Process	Establishment of T cell polarity	ISS
GO:0001772	Component	Immunological synapse	IEA
GO:0001772	Component	Immunological synapse	ISS
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	IMP	22095531
GO:0001921	Process	Positive regulation of receptor recycling	IMP	15775968
GO:0002093	Process	Auditory receptor cell morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	15182672, 15649318, 15775968, 15975580, 16103886, 16137684, 16611247, 18716323, 19041750, 19386766, 19439659, 19555689, 19615732, 20622900, 21132015, 21525870, 21701506, 21849460, 22078877, 22898364, 24550280, 25036637, 26617989, 27382054, 28169360, 29144123, 30126976, 32203420, 325
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	19386766
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	16611247
GO:0005886	Component	Plasma membrane	IDA	15182672, 19386766, 21849460, 28169360
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IDA	15649318, 27380321
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	16965391
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	NAS	23397623
GO:0006417	Process	Regulation of translation	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008283	Process	Cell population proliferation	IDA	16965391
GO:0010669	Process	Epithelial structure maintenance	ISS
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	18227151
GO:0014069	Component	Postsynaptic density	IBA
GO:0016020	Component	Membrane	IEA
GO:0016080	Process	Synaptic vesicle targeting	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0016477	Process	Cell migration	IMP	18716323
GO:0019901	Function	Protein kinase binding	IBA
GO:0021747	Process	Cochlear nucleus development	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0030859	Process	Polarized epithelial cell differentiation	IC	27380321
GO:0030859	Process	Polarized epithelial cell differentiation	IMP	27380321
GO:0031252	Component	Cell leading edge	IDA	18716323
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0034750	Component	Scrib-APC-beta-catenin complex	IDA	16611247
GO:0035088	Process	Establishment or maintenance of apical/basal cell polarity	IEA
GO:0035089	Process	Establishment of apical/basal cell polarity	IMP	19041750
GO:0035591	Function	Signaling adaptor activity	IDA	27380321
GO:0035748	Component	Myelin sheath abaxonal region	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042734	Component	Presynaptic membrane	IDA	15182672
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	19041750
GO:0043113	Process	Receptor clustering	IBA
GO:0043615	Process	Astrocyte cell migration	IEA
GO:0044291	Component	Cell-cell contact zone	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	23397623
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IDA	15182672
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045930	Process	Negative regulation of mitotic cell cycle	IDA	16965391
GO:0045947	Process	Negative regulation of translational initiation	IMP	34535749
GO:0046007	Process	Negative regulation of activated T cell proliferation	IEA
GO:0046007	Process	Negative regulation of activated T cell proliferation	ISS
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0050918	Process	Positive chemotaxis	IMP	18716323
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060561	Process	Apoptotic process involved in morphogenesis	IMP	19041750
GO:0060603	Process	Mammary gland duct morphogenesis	IEA
GO:0060603	Process	Mammary gland duct morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0071896	Process	Protein localization to adherens junction	IMP	16611247
GO:0090630	Process	Activation of GTPase activity	IMP	19041750
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IGI	16344308
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098887	Process	Neurotransmitter receptor transport, endosome to postsynaptic membrane	IBA
GO:0098887	Process	Neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099003	Process	Vesicle-mediated transport in synapse	IEA
GO:0099147	Component	Extrinsic component of postsynaptic density membrane	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA

MIM	HGNC	e!Ensembl
607733	30377	ENSG00000180900

Q14160

Protein name

Protein scribble homolog (Scribble) (hScrib) (Protein LAP4)

Protein function

Scaffold protein involved in different aspects of polarized cell differentiation regulating epithelial and neuronal morphogenesis and T-cell polarization (PubMed:15182672, PubMed:16344308, PubMed:16965391, PubMed:18641685, PubMed:18716323, PubMe

PDB

1UJU , 1WHA , 1X5Q , 2W4F , 4WYT , 4WYU , 5VWC , 5VWI , 5VWK , 6EEY , 6ESP , 6MS1 , 6MTU , 6MTV , 6MYE , 6MYF , 6XA6 , 6XA7 , 6XA8 , 7JO7 , 7QRS , 7QRT , 7QS8 , 7QS9 , 7QSA , 7QSB , 7QTO , 7QTP , 7QTU , 8B82 , 8B87 , 8B8O , 8B9T , 8BIA , 8BJ0 , 8CD3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	36 → 94	Leucine rich repeat	Repeat
PF00595	PDZ	728 → 812	PDZ domain	Domain
PF00595	PDZ	863 → 947	PDZ domain	Domain
PF00595	PDZ	1004 → 1090	PDZ domain	Domain
PF00595	PDZ	1100 → 1189	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney, skeletal muscles, liver, lung, breast, intestine, placenta and skin mainly in epithelial cells (at protein level). {ECO:0000269|PubMed:15806148}.

Sequence

MLKCIPLWRCNRHVESVDKRHCSLQAVPEEIYRYSRSLEELLLDANQLRELPKPFFRLLN
LRKLGLSDNEIQRLPPEVANFMQLVELDVSRNDIPEIPESIKFCKALEIADFSGNPLSRL
PDGFTQLRSLAHLALNDVSLQALPGDVGNLANLVTLELRENLLKSLPASLSFLVKLEQLD
LGGNDLEVLPDTLGALPNLRELWLDRNQLSALPPELGNLRRLVCLDVSENRLEELPAELG
GLVLLTDLLLSQNLLRRLPDGIGQLKQLSILKVDQNRLCEVTEAIGDCENLSELILTENL
LMALPRSLGKLTKLTNLNVDRNHLEALPPEIGGCVALSVLSLRDNRLAVLPPELAHTTEL
HVLDVAGNRLQSLPFALTHLNLKALWLAENQAQPMLRFQTEDDARTGEKVLTCYLLPQQP
PPSLEDAGQQGSLSETWSDAPPSRVSVIQFLEAPIGDEDAEEAAAEKRGLQRRATPHPSE
LKVMKRSIEGRRSEACPCQPDSGSPLPAEEEKRLSAESGLSEDSRPSASTVSEAEPEGPS
AEAQGGSQQEATTAGGEEDAEEDYQEPTVHFAEDALLPGDDREIEEGQPEAPWTLPGGRQ
RLIRKDTPHYKKHFKISKLPQPEAVVALLQGMQPDGEGPVAPGGWHNGPHAPWAPRAQKE
EEEEEEGSPQEEEVEEEEENRAEEEEASTEEEDKEGAVVSAPSVKGVSFDQANNLLIEPA
RIEEEELTLTILRQTGGLGISIAGGKGSTPYKGDDEGIFISRVSEEGPAARAGVRVGDKL
LEVNGVALQGAEHHEAVEALRGAGTAVQMRVWRERMVEPENAVTITPLRPEDDYSPRERR
GGGLRLPLLPPESPGPLRQRHVACLARSERGLGFSIAGGKGSTPYRAGDAGIFVSRIAEG
GAAHRAGTLQVGDRVLSINGVDVTEARHDHAVSLLTAASPTIALLLEREAGGPLPPSPLP
HSSPPTAAVATTSITTATPGVPGLPSLAPSLLAAALEGPYPVEEIRLPRAGGPLGLSIVG
GSDHSSHPFGVQEPGVFISKVLPRGLAARSGLRVGDRILAVNGQDVRDATHQEAVSALLR
PCLELSLLVRRDPAPPGLRELCIQKAPGERLGISIRGGARGHAGNPRDPTDEGIFISKVS
PTGAAGRDGRLRVGLRLLEVNQQSLLGLTHGEAVQLLRSVGDTLTVLVCDGFEASTDAAL
EVSPGVIANPFAAGIGHRNSLESISSIDRELSPEGPGKEKELPGQTLHWGPEATEAAGRG
LQPLKLDYRALAAVPSAGSVQRVPSGAAGGKMAESPCSPSGQQPPSPPSPDELPANVKQA
YRAFAAVPTSHPPEDAPAQPPTPGPAASPEQLSFRERQKYFELEVRVPQAEGPPKRVSLV
GADDLRKMQEEEARKLQQKRAQMLREAAEAGAEARLALDGETLGEEEQEDEQPPWASPSP
TSRQSPASPPPLGGGAPVRTAKAERRHQERLRVQSPEPPAPERALSPAELRALEAEKRAL
WRAARMKSLEQDALRAQMVLSRSQEGRGTRGPLERLAEAPSPAPTPSPTPVEDLGPQTST
SPGRLSPDFAEELRSLEPSPSPGPQEEDGEVALVLLGRPSPGAVGPEDVALCSSRRPVRP
GRRGLGPVPS

Sequence length

1630

C0HLS1

Protein name

SCRIB overlapping open reading frame protein (oSCRIB)

Protein function

Represses translation of the downstream SCRIB protein (PubMed:34535749). Translation of oSCRIB hinders SCRIB translation but does not completely abolish it, probably due to leaky scanning which allows the ribosome to bypass the weaker oSCRIB sta

Family and domains

Sequence

MLKCIPLWRCNRHVESVDKRHCSLQAVPEEIYRYSRSLEELLLDANQLRELPKPFFRLLN
LRKLGLSDNEIQRLPPEVANFMQLVELDVSRNDIPEIPESIKFCKALEIADFSGNPLSRL
PDGFTQLRSLAHLALNDVSLQALPGDVGNLANLVTLELRENLLKSLPASLSFLVKLEQLD
LGGNDLEVLPDTLGALPNLRELWLDRNQLSALPPELGNLRRLVCLDVSENRLEELPAELG
GLVLLTDLLLSQNLLRRLPDGIGQLKQLSILKVDQNRLCEVTEAIGDCENLSELILTENL
LMALPRSLGKLTKLTNLNVDRNHLEALPPEIGGCVALSVLSLRDNRLAVLPPELAHTTEL
HVLDVAGNRLQSLPFALTHLNLKALWLAENQAQPMLRFQTEDDARTGEKVLTCYLLPQQP
PPSLEDAGQQGSLSETWSDAPPSRVSVIQFLEAPIGDEDAEEAAAEKRGLQRRATPHPSE
LKVMKRSIEGRRSEACPCQPDSGSPLPAEEEKRLSAESGLSEDSRPSASTVSEAEPEGPS
AEAQGGSQQEATTAGGEEDAEEDYQEPTVHFAEDALLPGDDREIEEGQPEAPWTLPGGRQ
RLIRKDTPHYKKHFKISKLPQPEAVVALLQGMQPDGEGPVAPGGWHNGPHAPWAPRAQKE
EEEEEEGSPQEEEVEEEEENRAEEEEASTEEEDKEGAVVSAPSVKGVSFDQANNLLIEPA
RIEEEELTLTILRQTGGLGISIAGGKGSTPYKGDDEGIFISRVSEEGPAARAGVRVGDKL
LEVNGVALQGAEHHEAVEALRGAGTAVQMRVWRERMVEPENAVTITPLRPEDDYSPRERR
GGGLRLPLLPPESPGPLRQRHVACLARSERGLGFSIAGGKGSTPYRAGDAGIFVSRIAEG
GAAHRAGTLQVGDRVLSINGVDVTEARHDHAVSLLTAASPTIALLLEREAGGPLPPSPLP
HSSPPTAAVATTSITTATPGVPGLPSLAPSLLAAALEGPYPVEEIRLPRAGGPLGLSIVG
GSDHSSHPFGVQEPGVFISKVLPRGLAARSGLRVGDRILAVNGQDVRDATHQEAVSALLR
PCLELSLLVRRDPAPPGLRELCIQKAPGERLGISIRGGARGHAGNPRDPTDEGIFISKVS
PTGAAGRDGRLRVGLRLLEVNQQSLLGLTHGEAVQLLRSVGDTLTVLVCDGFEASTDAAL
EVSPGVIANPFAAGIGHRNSLESISSIDRELSPEGPGKEKELPGQTLHWGPEATEAAGRG
LQPLKLDYRALAAVPSAGSVQRVPSGAAGGKMAESPCSPSGQQPPSPPSPDELPANVKQA
YRAFAAVPTSHPPEDAPAQPPTPGPAASPEQLSFRERQKYFELEVRVPQAEGPPKRVSLV
GADDLRKMQEEEARKLQQKRAQMLREAAEAGAEARLALDGETLGEEEQEDEQPPWASPSP
TSRQSPASPPPLGGGAPVRTAKAERRHQERLRVQSPEPPAPERALSPAELRALEAEKRAL
WRAARMKSLEQDALRAQMVLSRSQEGRGTRGPLERLAEAPSPAPTPSPTPVEDLGPQTST
SPGRLSPDFAEELRSLEPSPSPGPQEEDGEVALVLLGRPSPGAVGPEDVALCSSRRPVRP
GRRGLGPVPS

Sequence length

1630

Interactions

View interactions

	KEGG
	Hippo signaling pathway Tight junction Human papillomavirus infection Viral carcinogenesis

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neural tube defect	Likely pathogenic	rs2130127564	RCV001391253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
AUTISM SPECTRUM DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCRIB-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	LHGDN	16611247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	29573971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	Pubtator	29573971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	30414501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20936341, 22179838, 24527800, 27428426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27428426, 35501367, 37402999, 40157909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31513346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19366792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24276238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16619250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33294438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	30472487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	BEFREE	22095531, 23922697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	35501367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21965329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	35501367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	29088303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19366792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30692208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20936341, 22179838, 24527800, 27428426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24276238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21965329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24527800, 27428426, 27777049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19041750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30472487		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	35380688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24211266, 24527800, 28369449, 31513346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22095531, 23922697, 28369449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	29573971	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	28369449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	LHGDN	14710229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29529391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21965329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21965329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	23922697, 29573971		★★★★★ ★☆☆☆☆ Found in Text Mining only
VERHEIJ SYNDROME	CHROMOSOME 8q24.3 DELETION SYNDROME	BEFREE	30472487		★★★★★ ★☆☆☆☆ Found in Text Mining only

SCRIB (scribble planar cell polarity protein)