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	286204
Gene name	Crumbs cell polarity complex component 2
Gene symbol	CRB2
Synonyms (NCBI Gene)	FSGS9VMCKD
Chromosome	9
Chromosome location	9q33.3
Summary	This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Droso

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145948620	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs147412276	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, non coding transcript variant, coding sequence variant
rs202128397	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs375072557	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs730880300	A>C	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs730880377	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs765676223	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs766470795	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255250	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879255251	GGCCCGGCGCGGCCCC>-,GGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCC	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255252	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064793849	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1417339548	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1588200023	->CTGTCCT	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant

128

Show/Hide all (128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017520	hsa-miR-335-5p	Microarray	18185580
MIRT043677	hsa-miR-342-3p	CLASH	23622248
MIRT613893	hsa-miR-8485	HITS-CLIP	23824327
MIRT613892	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613891	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613890	hsa-miR-603	HITS-CLIP	23824327
MIRT613889	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT613889	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT613888	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT043677	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613886	hsa-miR-3941	HITS-CLIP	23824327
MIRT613887	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613885	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT613884	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT613893	hsa-miR-8485	HITS-CLIP	23824327
MIRT613892	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613891	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613890	hsa-miR-603	HITS-CLIP	23824327
MIRT613889	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT613889	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT613888	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT043677	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613886	hsa-miR-3941	HITS-CLIP	23824327
MIRT613887	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613885	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT613884	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT908165	hsa-let-7a	CLIP-seq
MIRT908166	hsa-let-7b	CLIP-seq
MIRT908167	hsa-let-7c	CLIP-seq
MIRT908168	hsa-let-7d	CLIP-seq
MIRT908169	hsa-let-7e	CLIP-seq
MIRT908170	hsa-let-7f	CLIP-seq
MIRT908171	hsa-let-7g	CLIP-seq
MIRT908172	hsa-let-7i	CLIP-seq
MIRT908173	hsa-miR-1197	CLIP-seq
MIRT908174	hsa-miR-125a-5p	CLIP-seq
MIRT908175	hsa-miR-125b	CLIP-seq
MIRT908176	hsa-miR-1294	CLIP-seq
MIRT908177	hsa-miR-146b-3p	CLIP-seq
MIRT908178	hsa-miR-1827	CLIP-seq
MIRT908179	hsa-miR-202	CLIP-seq
MIRT908180	hsa-miR-219-1-3p	CLIP-seq
MIRT908181	hsa-miR-2392	CLIP-seq
MIRT908182	hsa-miR-2467-3p	CLIP-seq
MIRT908183	hsa-miR-2682	CLIP-seq
MIRT908184	hsa-miR-329	CLIP-seq
MIRT908185	hsa-miR-34a	CLIP-seq
MIRT908186	hsa-miR-34c-5p	CLIP-seq
MIRT908187	hsa-miR-3675-5p	CLIP-seq
MIRT908188	hsa-miR-377	CLIP-seq
MIRT908189	hsa-miR-4254	CLIP-seq
MIRT908190	hsa-miR-4290	CLIP-seq
MIRT908191	hsa-miR-4316	CLIP-seq
MIRT908192	hsa-miR-4319	CLIP-seq
MIRT908193	hsa-miR-4436a	CLIP-seq
MIRT908194	hsa-miR-4446-5p	CLIP-seq
MIRT908195	hsa-miR-4458	CLIP-seq
MIRT908196	hsa-miR-449a	CLIP-seq
MIRT908197	hsa-miR-449b	CLIP-seq
MIRT908198	hsa-miR-449c	CLIP-seq
MIRT908199	hsa-miR-4500	CLIP-seq
MIRT908200	hsa-miR-4655-3p	CLIP-seq
MIRT908201	hsa-miR-4676-5p	CLIP-seq
MIRT908202	hsa-miR-4677-3p	CLIP-seq
MIRT908203	hsa-miR-4682	CLIP-seq
MIRT908204	hsa-miR-4726-3p	CLIP-seq
MIRT908205	hsa-miR-4732-3p	CLIP-seq
MIRT908206	hsa-miR-4732-5p	CLIP-seq
MIRT908207	hsa-miR-4755-5p	CLIP-seq
MIRT908208	hsa-miR-4757-5p	CLIP-seq
MIRT908209	hsa-miR-486-3p	CLIP-seq
MIRT908210	hsa-miR-532-3p	CLIP-seq
MIRT908211	hsa-miR-571	CLIP-seq
MIRT908212	hsa-miR-575	CLIP-seq
MIRT908213	hsa-miR-662	CLIP-seq
MIRT908214	hsa-miR-665	CLIP-seq
MIRT908215	hsa-miR-670	CLIP-seq
MIRT908216	hsa-miR-940	CLIP-seq
MIRT908217	hsa-miR-98	CLIP-seq
MIRT1921376	hsa-miR-3183	CLIP-seq
MIRT1921377	hsa-miR-3909	CLIP-seq
MIRT1921378	hsa-miR-3921	CLIP-seq
MIRT1921379	hsa-miR-4653-5p	CLIP-seq
MIRT1921380	hsa-miR-4723-3p	CLIP-seq
MIRT1921376	hsa-miR-3183	CLIP-seq
MIRT908184	hsa-miR-329	CLIP-seq
MIRT908188	hsa-miR-377	CLIP-seq
MIRT1921380	hsa-miR-4723-3p	CLIP-seq
MIRT908208	hsa-miR-4757-5p	CLIP-seq
MIRT1969222	hsa-miR-617	CLIP-seq
MIRT2205213	hsa-miR-128	CLIP-seq
MIRT2205214	hsa-miR-1297	CLIP-seq
MIRT2205215	hsa-miR-140-3p	CLIP-seq
MIRT2205216	hsa-miR-149	CLIP-seq
MIRT2205217	hsa-miR-1912	CLIP-seq
MIRT2205218	hsa-miR-205	CLIP-seq
MIRT2205219	hsa-miR-214	CLIP-seq
MIRT2205220	hsa-miR-26a	CLIP-seq
MIRT2205221	hsa-miR-26b	CLIP-seq
MIRT2205222	hsa-miR-27a	CLIP-seq
MIRT2205223	hsa-miR-27b	CLIP-seq
MIRT2205224	hsa-miR-3158-3p	CLIP-seq
MIRT2205225	hsa-miR-3166	CLIP-seq
MIRT908184	hsa-miR-329	CLIP-seq
MIRT2205226	hsa-miR-3619-5p	CLIP-seq
MIRT908188	hsa-miR-377	CLIP-seq
MIRT2205227	hsa-miR-4465	CLIP-seq
MIRT2205228	hsa-miR-4721	CLIP-seq
MIRT2205229	hsa-miR-4747-5p	CLIP-seq
MIRT2205230	hsa-miR-512-5p	CLIP-seq
MIRT2205231	hsa-miR-516a-3p	CLIP-seq
MIRT2205232	hsa-miR-761	CLIP-seq
MIRT2205233	hsa-miR-922	CLIP-seq
MIRT908184	hsa-miR-329	CLIP-seq
MIRT908188	hsa-miR-377	CLIP-seq
MIRT2447570	hsa-miR-1234	CLIP-seq
MIRT2447571	hsa-miR-1254	CLIP-seq
MIRT2447572	hsa-miR-1285	CLIP-seq
MIRT2447573	hsa-miR-3116	CLIP-seq
MIRT2447574	hsa-miR-3187-5p	CLIP-seq
MIRT2447575	hsa-miR-3689d	CLIP-seq
MIRT2447576	hsa-miR-4707-5p	CLIP-seq
MIRT2447577	hsa-miR-550a	CLIP-seq
MIRT2447578	hsa-miR-612	CLIP-seq
MIRT2447579	hsa-miR-661	CLIP-seq
MIRT2508464	hsa-miR-127-5p	CLIP-seq
MIRT2508465	hsa-miR-3925-3p	CLIP-seq
MIRT2508466	hsa-miR-766	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001707	Process	Mesoderm formation	IEA
GO:0001707	Process	Mesoderm formation	ISS
GO:0001756	Process	Somitogenesis	IEA
GO:0001756	Process	Somitogenesis	ISS
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17920587
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007369	Process	Gastrulation	IEA
GO:0007601	Process	Visual perception	IEA
GO:0010470	Process	Regulation of gastrulation	IEA
GO:0010470	Process	Regulation of gastrulation	ISS
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	ISS
GO:0010951	Process	Negative regulation of endopeptidase activity	IMP	20299451
GO:0014028	Process	Notochord formation	IEA
GO:0014028	Process	Notochord formation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	NAS	26404741
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0019828	Function	Aspartic-type endopeptidase inhibitor activity	IMP	20299451
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030010	Process	Establishment of cell polarity	ISS
GO:0030054	Component	Cell junction	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0032991	Component	Protein-containing complex	IBA
GO:0032991	Component	Protein-containing complex	IDA	20299451
GO:0032991	Component	Protein-containing complex	IEA
GO:0035003	Component	Subapical complex	IEA
GO:0043296	Component	Apical junction complex	NAS	26404741
GO:0044877	Function	Protein-containing complex binding	IMP	20299451
GO:0045177	Component	Apical part of cell	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	26404741
GO:0045199	Process	Maintenance of epithelial cell apical/basal polarity	IEA
GO:0045199	Process	Maintenance of epithelial cell apical/basal polarity	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046549	Process	Retinal cone cell development	ISS
GO:0055111	Process	Ingression involved in gastrulation with mouth forming second	IEA
GO:0055111	Process	Ingression involved in gastrulation with mouth forming second	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:0072359	Process	Circulatory system development	ISS

MIM	HGNC	e!Ensembl
609720	18688	ENSG00000148204

Q5IJ48

Protein name

Protein crumbs homolog 2 (Crumbs-like protein 2)

Protein function

Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo (By similarity). Acts by promoting cell ingression, the process

PDB

2WO6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00008	EGF	112 → 142	EGF-like domain	Domain
PF00008	EGF	150 → 180	EGF-like domain	Domain
PF00008	EGF	188 → 219	EGF-like domain	Domain
PF00008	EGF	227 → 257	EGF-like domain	Domain
PF00008	EGF	324 → 354	EGF-like domain	Domain
PF00008	EGF	362 → 392	EGF-like domain	Domain
PF02210	Laminin_G_2	465 → 588	Laminin G domain	Domain
PF00008	EGF	609 → 639	EGF-like domain	Domain
PF00008	EGF	811 → 841	EGF-like domain	Domain
PF00008	EGF	1060 → 1090	EGF-like domain	Domain
PF12661	hEGF	1103 → 1124	Human growth factor-like EGF	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in glomeruli, podocytes of the glomerular capillary loops, and parietal glomerular epithelial cells in the kidney (at protein level) (PubMed:27942854, PubMed:29473663). Expressed in retina, fetal eye and brain (PubMed:1585197

Sequence

MALARPGTPDPQALASVLLLLLWAPALSLLAGTVPSEPPSACASDPCAPGTECQATESGG
YTCGPMEPRGCATQPCHHGALCVPQGPDPTGFRCYCVPGFQGPRCELDIDECASRPCHHG
ATCRNLADRYECHCPLGYAGVTCEMEVDECASAPCLHGGSCLDGVGSFRCVCAPGYGGTR
CQLDLDECQSQPCAHGGTCHDLVNGFRCDCAGTGYEGTHCEREVLECASAPCEHNASCLE
GLGSFRCLCWPGYSGELCEVDEDECASSPCQHGGRCLQRSDPALYGGVQAAFPGAFSFRH
AAGFLCHCPPGFEGADCGVEVDECASRPCLNGGHCQDLPNGFQCHCPDGYAGPTCEEDVD
ECLSDPCLHGGTCSDTVAGYICRCPETWGGRDCSVQLTGCQGHTCPLAATCIPIFESGVH
SYVCHCPPGTHGPFCGQNTTFSVMAGSPIQASVPAGGPLGLALRFRTTLPAGTLATRNDT
KESLELALVAATLQATLWSYSTTVLVLRLPDLALNDGHWHQVEVVLHLATLELRLWHEGC
PARLCVASGPVALASTASATPLPAGISSAQLGDATFAGCLQDVRVDGHLLLPEDLGENVL
LGCERREQCRPLPCVHGGSCVDLWTHFRCDCARPHRGPTCADEIPAATFGLGGAPSSASF
LLQELPGPNLTVSFLLRTRESAGLLLQFANDSAAGLTVFLSEGRIRAEVPGSPAVVLPGR
WDDGLRHLVMLSFGPDQLQDLGQHVHVGGRLLAADSQPWGGPFRGCLQDLRLDGCHLPFF
PLPLDNSSQPSELGGRQSWNLTAGCVSEDMCSPDPCFNGGTCLVTWNDFHCTCPANFTGP
TCAQQLWCPGQPCLPPATCEEVPDGFVCVAEATFREGPPAAFSGHNASSGRLLGGLSLAF
RTRDSEAWLLRAAAGALEGVWLAVRNGSLAGGVRGGHGLPGAVLPIPGPRVADGAWHRVR
LAMERPAATTSRWLLWLDGAATPVALRGLASDLGFLQGPGAVRILLAENFTGCLGRVALG
GLPLPLARPRPGAAPGAREHFASWPGTPAPILGCRGAPVCAPSPCLHDGACRDLFDAFAC
ACGPGWEGPRCEAHVDPCHSAPCARGRCHTHPDGRFECRCPPGFGGPRCRLPVPSKECSL
NVTCLDGSPCEGGSPAANCSCLEGLAGQRCQVPTLPCEANPCLNGGTCRAAGGVSECICN
ARFSGQFCEVAKGLPLPLPFPLLEVAVPAACACLLLLLLGLLSGILAARKRRQSEGTYSP
SQQEVAGARLEMDSVLKVPPEERLI

Sequence length

1285

Interactions

View interactions

	KEGG
	Hippo signaling pathway

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CRB2-related disorder	Likely pathogenic; Pathogenic	rs879255251, rs112885646, rs1219047251, rs1064793849	RCV004552019 RCV003335141 RCV004550566 RCV004552536 RCV004551582	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis 9	Likely pathogenic; Pathogenic	rs149815227, rs1225230645, rs202128397, rs879255251, rs879255252, rs899356265, rs1588200023, rs779586424, rs1388484958, rs770448714	RCV002484802 RCV002227752 RCV000157655 RCV000157656 RCV000157657 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs202128397, rs879255251	RCV001003815 RCV001003816	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly-cystic kidney disease	Likely pathogenic; Pathogenic	rs149815227, rs1225230645, rs879255251, rs375072557, rs730880377, rs772895608	RCV002484802 RCV002227752 RCV002498784 RCV000157659 RCV000157662 RCV004595396 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (32)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial idiopathic steroid-resistant nephrotic syndrome	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency, common variable, 7	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL HYALINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL GLOMERULONEPHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, FOCAL AND SEGMENTAL GLOMERULAR LESIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

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	15851977, 30239717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	BEFREE	30996265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	26925547, 27004616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	26925547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	26925547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Kidney Disease with Ventriculomegaly	Ventriculomegaly with cystic kidney disease	UNIPROT_DG	25557780		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Disease with Ventriculomegaly	Ventriculomegaly with cystic kidney disease	GENOMICS_ENGLAND_DG	25557780, 29473663, 30586318		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Disease with Ventriculomegaly	Ventriculomegaly with cystic kidney disease	ORPHANET_DG	25557780		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Disease with Ventriculomegaly	Ventriculomegaly with cystic kidney disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Disease with Ventriculomegaly	Ventriculomegaly with cystic kidney disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	BEFREE	25701872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Finnish congenital nephrotic syndrome	Finnish Congenital Nephrotic Syndrome	BEFREE	27004616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	27942854, 29473663, 30212996		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9	Focal segmental glomerulosclerosis	UNIPROT_DG	25557779		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	29473663		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9	Focal segmental glomerulosclerosis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	30212996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	30212996, 34435324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	25557780, 36803301, 39987590, 40603987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	27004616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25557780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26925547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	39987590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	15851977, 24339791, 29893966, 30239717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	39987590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 8	Leber Congenital Amaurosis	BEFREE	31145883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrotic syndrome	Pubtator	25557780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	25557780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	25557780, 27942854, 30125302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	25557779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	36549870, 36556986, 36803301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	25557779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	25557780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal corticomedullary cysts	Renal corticomedullary cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30593785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	24565864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15851977, 23001562, 24565864, 25701872, 29188511, 29893966, 30239717, 30593785, 31438467		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	39987590	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	25557779, 26925547, 27004616, 27942854, 29473663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventriculomegaly-cystic kidney disease	Ventriculomegaly with cystic kidney disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

CRB2 (crumbs cell polarity complex component 2)