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	10806
Gene name	SHH signaling and ciliogenesis regulator SDCCAG8
Gene symbol	SDCCAG8
Synonyms (NCBI Gene)	BBS16CCCAPCCCAP SLSN7HSPC085NPHP10NY-CO-8SLSN7hCCCAP
Chromosome	1
Chromosome location	1q43-q44
Summary	This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143407309	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs148818431	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs149359674	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs150070966	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs267607031	A>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs387906218	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs397515336	GTGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs397515337	C>T	Pathogenic	5 prime UTR variant, intron variant, genic upstream transcript variant
rs587777846	ATAG>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs756907665	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs770084716	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs778900414	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs797045946	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs797045947	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs797045948	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs1286714661	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1390963789	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1460888769	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1558264626	T>-	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1573920009	C>T	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1573930690	G>A	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017025	hsa-miR-335-5p	Microarray	18185580
MIRT022273	hsa-miR-124-3p	Microarray	18668037
MIRT1331653	hsa-miR-1205	CLIP-seq
MIRT1331654	hsa-miR-1224-5p	CLIP-seq
MIRT1331655	hsa-miR-3929	CLIP-seq
MIRT1331656	hsa-miR-4286	CLIP-seq
MIRT1331657	hsa-miR-4323	CLIP-seq
MIRT1331658	hsa-miR-4418	CLIP-seq
MIRT1331659	hsa-miR-4419b	CLIP-seq
MIRT1331660	hsa-miR-4478	CLIP-seq
MIRT1331661	hsa-miR-4751	CLIP-seq
MIRT1331662	hsa-miR-4758-3p	CLIP-seq
MIRT1331663	hsa-miR-509-3-5p	CLIP-seq
MIRT1331664	hsa-miR-509-5p	CLIP-seq
MIRT2322694	hsa-miR-3688-5p	CLIP-seq
MIRT2322695	hsa-miR-4440	CLIP-seq
MIRT2322696	hsa-miR-4466	CLIP-seq
MIRT2322697	hsa-miR-4474-3p	CLIP-seq
MIRT2322698	hsa-miR-493	CLIP-seq
MIRT2322699	hsa-miR-675	CLIP-seq
MIRT1331653	hsa-miR-1205	CLIP-seq
MIRT2618765	hsa-miR-28-5p	CLIP-seq
MIRT2618766	hsa-miR-3139	CLIP-seq
MIRT2618767	hsa-miR-3194-3p	CLIP-seq
MIRT2618768	hsa-miR-3197	CLIP-seq
MIRT1331655	hsa-miR-3929	CLIP-seq
MIRT1331656	hsa-miR-4286	CLIP-seq
MIRT1331657	hsa-miR-4323	CLIP-seq
MIRT1331658	hsa-miR-4418	CLIP-seq
MIRT1331659	hsa-miR-4419b	CLIP-seq
MIRT1331660	hsa-miR-4478	CLIP-seq
MIRT2618769	hsa-miR-4649-3p	CLIP-seq
MIRT2618770	hsa-miR-4733-3p	CLIP-seq
MIRT1331662	hsa-miR-4758-3p	CLIP-seq
MIRT1331663	hsa-miR-509-3-5p	CLIP-seq
MIRT1331664	hsa-miR-509-5p	CLIP-seq
MIRT2618771	hsa-miR-665	CLIP-seq
MIRT2618772	hsa-miR-708	CLIP-seq
MIRT2618773	hsa-miR-767-3p	CLIP-seq
MIRT2618765	hsa-miR-28-5p	CLIP-seq
MIRT2618766	hsa-miR-3139	CLIP-seq
MIRT2618767	hsa-miR-3194-3p	CLIP-seq
MIRT2618770	hsa-miR-4733-3p	CLIP-seq
MIRT2618771	hsa-miR-665	CLIP-seq
MIRT2618772	hsa-miR-708	CLIP-seq
MIRT2618773	hsa-miR-767-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0005515	Function	Protein binding	IPI	20835237, 22190034, 22940612, 27224062, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	20835237
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IDA	20835237
GO:0005929	Component	Cilium	IDA
GO:0007098	Process	Centrosome cycle	IEA
GO:0030010	Process	Establishment of cell polarity	IBA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030010	Process	Establishment of cell polarity	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0031023	Process	Microtubule organizing center organization	IBA
GO:0031023	Process	Microtubule organizing center organization	IEA
GO:0034451	Component	Centriolar satellite	IEA
GO:0035148	Process	Tube formation	IBA
GO:0035148	Process	Tube formation	IEA
GO:0035148	Process	Tube formation	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:1902017	Process	Regulation of cilium assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	27224062

MIM	HGNC	e!Ensembl
613524	10671	ENSG00000054282

Q86SQ7

Protein name

Serologically defined colon cancer antigen 8 (Antigen NY-CO-8) (Centrosomal colon cancer autoantigen protein) (hCCCAP)

Protein function

Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Also plays an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for path

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15964	CCCAP	6 → 706	Centrosomal colon cancer autoantigen protein family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors. {ECO:0000269|PubMed:9610721}.

Sequence

MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNED
ARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVH
TINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLD
ASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEE
SQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNV
HMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQ
CDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEA
QVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRA
KTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQ
EKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLK
EECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMK
QRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC

Sequence length

713

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Pathogenic; Likely pathogenic	rs149038104, rs2147782314, rs397515335, rs397515337, rs2547886067, rs797045948, rs2528455666, rs1286714661, rs1390963789, rs772544112	RCV005361591 RCV001779472 RCV000625956 RCV002265541 RCV002308690 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 16	Likely pathogenic; Pathogenic	rs752046196, rs2070433656, rs149038104, rs964673995, rs2147782314, rs2149263988, rs1442457872, rs201658593, rs397515335, rs397515337, rs267607031, rs587777846, rs587777847, rs2528456354, rs2547828052 View all (31 more)	RCV001998335 RCV001377051 RCV001382396 RCV001384058 RCV002541103 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal segmental glomerulosclerosis	Likely pathogenic	rs2547851230	RCV002294655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs756907665	RCV005901609	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal dysplasia and retinal aplasia	Pathogenic	rs1573920009	RCV001003222	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SDCCAG8-related disorder	Likely pathogenic; Pathogenic	rs752046196, rs964673995, rs397515337, rs766013756, rs797045947, rs797045948, rs766435425, rs1286714661, rs756907665, rs770084716, rs772544112	RCV004529074 RCV004734163 RCV004532265 RCV004534169 RCV004530146 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Senior-Loken syndrome 7	Likely pathogenic; Pathogenic	rs752046196, rs2070433656, rs149038104, rs964673995, rs747911477, rs2147782314, rs2149263988, rs1442457872, rs201658593, rs397515335, rs387906218, rs397515336, rs397515337, rs267607031, rs587777847 View all (31 more)	RCV001998335 RCV001377051 RCV001382396 RCV001384058 RCV001549292 View all (41 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES, CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (88)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	ORPHANET_DG	20835237		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	21052717, 22626039, 29444170, 31534065		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	22190896		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 16	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	20835237, 22190896, 25529582		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 16	Bardet-Biedl Syndrome	CLINVAR_DG	20835237, 22190896		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 16	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	24166486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	27759212	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiolitis	Bronchiolitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24157943, 31534065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	20835237, 26968886, 29455858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	29455858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	CTD_human_DG	20835237		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Diseases	Cystic Kidney Disease	CTD_human_DG	20835237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30922366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22626039		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	24157943, 34632641	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	24157943, 31534065, 40725491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24157943, 31534065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443, 31152163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	40725491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30922366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34375487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	31534065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	31534065, 34632641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20421936, 22095114, 23843577, 31534065		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	20421936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	20421936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	22095114, 31534065	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	20835237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	20835237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	22626039, 26968886, 29444170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	31534065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG	22190896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	22819833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	24674142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	CTD_human_DG	20835237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26968886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	31534065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	GWASCAT_DG	24166486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	21926974, 23974872, 24166486, 25056061, 26198764, 28991256, 30285260, 31268507, 31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21926974, 23974872		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	22614287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22614287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22614287, 32099098	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	40725491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 7	Senior-Loken Syndrome	CLINVAR_DG	20835237, 22190896		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SENIOR-LOKEN SYNDROME 7	Senior-Loken Syndrome	GENOMICS_ENGLAND_DG	20835237, 22190896, 25529582		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30922366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8)