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	79867
Gene name	Tectonic family member 2
Gene symbol	TCTN2
Synonyms (NCBI Gene)	C12orf38JBTS24MKS8TECT2
Chromosome	12
Chromosome location	12q24.31
Summary	This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome ty

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141768405	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant
rs146698907	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs149430216	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs187433682	G>A	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs188417716	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs201010803	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs201827132	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs374349989	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs746186338	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs748951253	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs760034947	->T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs760830696	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs786204788	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs786205622	TG>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797046040	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225220	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225221	G>T	Pathogenic	Stop gained, coding sequence variant
rs863225222	G>-,GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225425	G>A	Pathogenic	Splice acceptor variant
rs863225426	C>T	Pathogenic	Stop gained, coding sequence variant
rs915737037	->CTCTGCTC	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1131691491	A>T	Likely-pathogenic	Splice acceptor variant
rs1555293215	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

169

Show/Hide all (169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029239	hsa-miR-26b-5p	Microarray	19088304
MIRT695166	hsa-miR-2278	HITS-CLIP	23313552
MIRT695165	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT695164	hsa-miR-4459	HITS-CLIP	23313552
MIRT695163	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT695162	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT695161	hsa-miR-3926	HITS-CLIP	23313552
MIRT695160	hsa-miR-548s	HITS-CLIP	23313552
MIRT695166	hsa-miR-2278	HITS-CLIP	23313552
MIRT695165	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT695164	hsa-miR-4459	HITS-CLIP	23313552
MIRT695163	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT695162	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT695161	hsa-miR-3926	HITS-CLIP	23313552
MIRT695160	hsa-miR-548s	HITS-CLIP	23313552
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT1416812	hsa-miR-1262	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416817	hsa-miR-4433	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416820	hsa-miR-4701-3p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT1416823	hsa-miR-542-3p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2347465	hsa-miR-323b-3p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2347466	hsa-miR-4710	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT2347467	hsa-miR-4792	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT2395624	hsa-miR-1285	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2395625	hsa-miR-3157-5p	CLIP-seq
MIRT2395626	hsa-miR-3187-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2395627	hsa-miR-612	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT1416812	hsa-miR-1262	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT2640387	hsa-miR-1323	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2640388	hsa-miR-323-5p	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT2640389	hsa-miR-3613-3p	CLIP-seq
MIRT2640390	hsa-miR-371-5p	CLIP-seq
MIRT2640391	hsa-miR-371b-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT1416820	hsa-miR-4701-3p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2640392	hsa-miR-548o	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT2640393	hsa-miR-876-3p	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT2640387	hsa-miR-1323	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2640388	hsa-miR-323-5p	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT2640389	hsa-miR-3613-3p	CLIP-seq
MIRT2640390	hsa-miR-371-5p	CLIP-seq
MIRT2640391	hsa-miR-371b-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2640392	hsa-miR-548o	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT2640393	hsa-miR-876-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:1904491	Process	Protein localization to ciliary transition zone	IBA
GO:1904491	Process	Protein localization to ciliary transition zone	IEA

MIM	HGNC	e!Ensembl
613846	25774	ENSG00000168778

Q96GX1

Protein name

Tectonic-2

Protein function

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07773	DUF1619	171 → 444	Protein of unknown function (DUF1619)	Family

Sequence

MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSASLVGDTEGVTVSLAVLQ
DEAGILPIPTCGVLNNETEDWSVTVIPGAKVLEVTVRWKRGLDWCSSNETDSFSESPCIL
QTLLVSASHNSSCSAHLLIQVEIYANSSLTHNASENVTVIPNQVYQPLGPCPCNLTAGAC
DVRCCCDQECSSNLTTLFRRSCFTGVFGGDVNPPFDQLCSAGTTTRGVPDWFPFLCVQSP
LANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFADFGYKQGDPIMTVKKAYFTIPQVSL
AGQCMQNAPVAFLHNFDVKCVTNLELYQERDGIINAKIKNVALGGIVTPKVIYEEATDLD
KFITNTETPLNNGSTPRIVNVEEHYIFKWNNNTISEINVKIFRAEINAHQKGIMTQRFVV
KFLSYNSGNEEELSGNPGYQLGKPVRALNINRMNNVTTLHLWQSAGRGLCTSATFKPILF
GENVLSGCLLEVGINENCTQLRENAVERLDSLIQATHVAMRGNSDYADLSDGWLEIIRVD
APDPGADPLASSVNGMCLDIPAHLSIRILISDAGAVEGITQQEILGVETRFSSVNWQYQC
GLTCEHKADLLPISASVQFIKIPAQLPHPLTRFQINYTEYDCNRNEVCWPQLLYPWTQYY
QGELHSQCVAKGLLLLLFLTLALFLSNPWTRICKAYS

Sequence length

697

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome	Likely pathogenic; Pathogenic	rs371537478, rs2135834102, rs757485757, rs2135847212, rs1408997904, rs141752910, rs1025526121, rs786204788, rs780032084, rs1306876740, rs757123597, rs753905088, rs1196281944, rs201010803, rs774994149 View all (25 more)	RCV002028164 RCV001380665 RCV002569084 RCV001993399 RCV001895406 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 24	Likely pathogenic; Pathogenic	rs371537478, rs757485757, rs1408997904, rs141752910, rs780032084, rs760830696, rs863225222, rs863225220, rs863225425, rs863225426, rs2541810812, rs1956234424, rs1191280597, rs2541798281, rs374349989 View all (3 more)	RCV005008356 RCV005860239 RCV005006146 RCV005008392 RCV005010919 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs760830696, rs201010803, rs1956234424, rs2541798281, rs374349989	RCV002509290 RCV001582698 RCV003493345 RCV003988592 RCV003993750	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome, type 6	Likely pathogenic; Pathogenic	rs374349989, rs1955997540, rs1555293215	RCV001261610 RCV001261612 RCV001261611	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome, type 8	Likely pathogenic; Pathogenic	rs371537478, rs1408997904, rs141752910, rs780032084, rs797046040, rs760830696, rs863225222, rs863225220, rs1956234424, rs1191280597, rs2541798281, rs374349989, rs760034947, rs1956235509, rs754596743	RCV005008356 RCV005006146 RCV005008392 RCV005010919 RCV000192770 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs371537478, rs2135834102, rs757485757, rs2135847212, rs1408997904, rs141752910, rs1025526121, rs780032084, rs1306876740, rs757123597, rs753905088, rs1196281944, rs201010803, rs774994149, rs1956031029 View all (22 more)	RCV002028164 RCV001380665 RCV002569084 RCV001993399 RCV001895406 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TCTN2-related disorder	Likely pathogenic; Pathogenic	rs374349989	RCV000305893	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Likely pathogenic	rs141752910	RCV005925567	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29866362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	29866362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic liver disease	Cystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	21565611, 25118024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	21565611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	26092869		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	21565611		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 24	Joubert Syndrome	GENOMICS_ENGLAND_DG	21462283, 21565611, 25118024		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 24	Joubert Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29221125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	BEFREE	21462283, 29866362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	21565611, 25118024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	29866362, 32655147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 8	Meckel syndrome	GENOMICS_ENGLAND_DG	21462283, 25118024		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 8	Meckel syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	21462283		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	21462283		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29221125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	21565611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	21462283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	GENOMICS_ENGLAND_DG	21462283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TCTN2 (tectonic family member 2)