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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79583
Gene name	Transmembrane protein 231
Gene symbol	TMEM231
Synonyms (NCBI Gene)	ALYE870JBTS20MKS11PRO1886
Chromosome	16
Chromosome location	16q23.1
Summary	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively splice

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149888762	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs200063331	G>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs200799769	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs202215735	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs370607340	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs376555896	G>A	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs377440297	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs397514609	A>G,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant, synonymous variant
rs397514753	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514754	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs753709447	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs760426025	T>C	Pathogenic	Intron variant
rs797044954	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039807	A>G	Pathogenic	Intron variant
rs1415483600	C>G,T	Pathogenic	Splice donor variant
rs1597041976	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

283

Show/Hide all (283)

miRTarBase ID	miRNA	Experiments	Reference
MIRT633952	hsa-miR-3121-3p	HITS-CLIP	23824327
MIRT633951	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT633950	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT633949	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT633948	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633947	hsa-miR-1976	HITS-CLIP	23824327
MIRT633946	hsa-miR-24-1-5p	HITS-CLIP	23824327
MIRT633945	hsa-miR-24-2-5p	HITS-CLIP	23824327
MIRT633944	hsa-miR-4279	HITS-CLIP	23824327
MIRT496996	hsa-miR-3173-3p	PAR-CLIP	22291592
MIRT496995	hsa-miR-6891-5p	PAR-CLIP	22291592
MIRT496994	hsa-miR-4779	PAR-CLIP	22291592
MIRT496993	hsa-miR-6895-5p	PAR-CLIP	22291592
MIRT496992	hsa-miR-371b-3p	PAR-CLIP	22291592
MIRT496991	hsa-miR-6830-5p	PAR-CLIP	22291592
MIRT496990	hsa-miR-4480	PAR-CLIP	22291592
MIRT496989	hsa-miR-765	PAR-CLIP	22291592
MIRT496988	hsa-miR-561-5p	PAR-CLIP	22291592
MIRT633952	hsa-miR-3121-3p	HITS-CLIP	23824327
MIRT633951	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT633950	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT633949	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT633948	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633947	hsa-miR-1976	HITS-CLIP	23824327
MIRT633946	hsa-miR-24-1-5p	HITS-CLIP	23824327
MIRT633945	hsa-miR-24-2-5p	HITS-CLIP	23824327
MIRT633944	hsa-miR-4279	HITS-CLIP	23824327
MIRT496996	hsa-miR-3173-3p	PAR-CLIP	22291592
MIRT496995	hsa-miR-6891-5p	PAR-CLIP	22291592
MIRT496994	hsa-miR-4779	PAR-CLIP	22291592
MIRT496993	hsa-miR-6895-5p	PAR-CLIP	22291592
MIRT496992	hsa-miR-371b-3p	PAR-CLIP	22291592
MIRT496991	hsa-miR-6830-5p	PAR-CLIP	22291592
MIRT496990	hsa-miR-4480	PAR-CLIP	22291592
MIRT496989	hsa-miR-765	PAR-CLIP	22291592
MIRT496988	hsa-miR-561-5p	PAR-CLIP	22291592
MIRT1435911	hsa-miR-101	CLIP-seq
MIRT1435912	hsa-miR-1233	CLIP-seq
MIRT1435913	hsa-miR-125a-5p	CLIP-seq
MIRT1435914	hsa-miR-125b	CLIP-seq
MIRT1435915	hsa-miR-139-5p	CLIP-seq
MIRT1435916	hsa-miR-144	CLIP-seq
MIRT1435917	hsa-miR-1587	CLIP-seq
MIRT1435918	hsa-miR-184	CLIP-seq
MIRT1435919	hsa-miR-205	CLIP-seq
MIRT1435920	hsa-miR-2114	CLIP-seq
MIRT1435921	hsa-miR-3125	CLIP-seq
MIRT1435922	hsa-miR-3147	CLIP-seq
MIRT1435923	hsa-miR-3184	CLIP-seq
MIRT1435924	hsa-miR-3194-5p	CLIP-seq
MIRT1435925	hsa-miR-3665	CLIP-seq
MIRT1435926	hsa-miR-3691-3p	CLIP-seq
MIRT1435927	hsa-miR-3692	CLIP-seq
MIRT1435928	hsa-miR-3916	CLIP-seq
MIRT1435929	hsa-miR-421	CLIP-seq
MIRT1435930	hsa-miR-423-5p	CLIP-seq
MIRT1435931	hsa-miR-4251	CLIP-seq
MIRT1435932	hsa-miR-4277	CLIP-seq
MIRT1435933	hsa-miR-4319	CLIP-seq
MIRT1435934	hsa-miR-4425	CLIP-seq
MIRT1435935	hsa-miR-4457	CLIP-seq
MIRT1435936	hsa-miR-4492	CLIP-seq
MIRT1435937	hsa-miR-4498	CLIP-seq
MIRT1435938	hsa-miR-4505	CLIP-seq
MIRT1435939	hsa-miR-4656	CLIP-seq
MIRT1435940	hsa-miR-4674	CLIP-seq
MIRT1435941	hsa-miR-4675	CLIP-seq
MIRT1435942	hsa-miR-4709-5p	CLIP-seq
MIRT1435943	hsa-miR-4731-5p	CLIP-seq
MIRT1435944	hsa-miR-4732-3p	CLIP-seq
MIRT1435945	hsa-miR-4736	CLIP-seq
MIRT1435946	hsa-miR-4741	CLIP-seq
MIRT1435947	hsa-miR-4804-5p	CLIP-seq
MIRT1435948	hsa-miR-486-3p	CLIP-seq
MIRT1435949	hsa-miR-494	CLIP-seq
MIRT1435950	hsa-miR-513b	CLIP-seq
MIRT1435951	hsa-miR-548v	CLIP-seq
MIRT1435952	hsa-miR-554	CLIP-seq
MIRT1435953	hsa-miR-580	CLIP-seq
MIRT1435954	hsa-miR-593	CLIP-seq
MIRT1435955	hsa-miR-670	CLIP-seq
MIRT1435956	hsa-miR-762	CLIP-seq
MIRT1435957	hsa-miR-943	CLIP-seq
MIRT1435958	hsa-miR-338-3p	CLIP-seq
MIRT1435959	hsa-miR-4269	CLIP-seq
MIRT1435960	hsa-miR-4514	CLIP-seq
MIRT1435961	hsa-miR-4692	CLIP-seq
MIRT1435962	hsa-miR-4733-5p	CLIP-seq
MIRT1435963	hsa-miR-4742-5p	CLIP-seq
MIRT1435964	hsa-miR-550b	CLIP-seq
MIRT1435965	hsa-miR-885-3p	CLIP-seq
MIRT2130625	hsa-miR-1257	CLIP-seq
MIRT2130626	hsa-miR-1299	CLIP-seq
MIRT2130627	hsa-miR-1827	CLIP-seq
MIRT2130628	hsa-miR-3133	CLIP-seq
MIRT1435922	hsa-miR-3147	CLIP-seq
MIRT1435923	hsa-miR-3184	CLIP-seq
MIRT2130629	hsa-miR-320a	CLIP-seq
MIRT2130630	hsa-miR-320b	CLIP-seq
MIRT2130631	hsa-miR-320c	CLIP-seq
MIRT2130632	hsa-miR-320d	CLIP-seq
MIRT2130633	hsa-miR-330-3p	CLIP-seq
MIRT2130634	hsa-miR-3657	CLIP-seq
MIRT2130635	hsa-miR-370	CLIP-seq
MIRT1435930	hsa-miR-423-5p	CLIP-seq
MIRT1435934	hsa-miR-4425	CLIP-seq
MIRT2130636	hsa-miR-4429	CLIP-seq
MIRT2130637	hsa-miR-4649-3p	CLIP-seq
MIRT1435939	hsa-miR-4656	CLIP-seq
MIRT2130638	hsa-miR-4663	CLIP-seq
MIRT2130639	hsa-miR-4668-5p	CLIP-seq
MIRT2130640	hsa-miR-4669	CLIP-seq
MIRT1435940	hsa-miR-4674	CLIP-seq
MIRT2130641	hsa-miR-4691-3p	CLIP-seq
MIRT2130642	hsa-miR-4694-3p	CLIP-seq
MIRT2130643	hsa-miR-4790-3p	CLIP-seq
MIRT2130644	hsa-miR-548b-3p	CLIP-seq
MIRT1435964	hsa-miR-550b	CLIP-seq
MIRT2130645	hsa-miR-578	CLIP-seq
MIRT2130646	hsa-miR-581	CLIP-seq
MIRT2130647	hsa-miR-592	CLIP-seq
MIRT1435954	hsa-miR-593	CLIP-seq
MIRT2130648	hsa-miR-599	CLIP-seq
MIRT2130649	hsa-miR-603	CLIP-seq
MIRT2130650	hsa-miR-627	CLIP-seq
MIRT2130651	hsa-miR-875-3p	CLIP-seq
MIRT2130652	hsa-miR-924	CLIP-seq
MIRT1435911	hsa-miR-101	CLIP-seq
MIRT2351951	hsa-miR-103b	CLIP-seq
MIRT2351952	hsa-miR-1184	CLIP-seq
MIRT2351953	hsa-miR-1343	CLIP-seq
MIRT1435915	hsa-miR-139-5p	CLIP-seq
MIRT1435916	hsa-miR-144	CLIP-seq
MIRT2351954	hsa-miR-1915	CLIP-seq
MIRT2351955	hsa-miR-19a	CLIP-seq
MIRT2351956	hsa-miR-19b	CLIP-seq
MIRT2351957	hsa-miR-342-5p	CLIP-seq
MIRT2130635	hsa-miR-370	CLIP-seq
MIRT2351958	hsa-miR-378g	CLIP-seq
MIRT2351959	hsa-miR-4418	CLIP-seq
MIRT2351960	hsa-miR-4434	CLIP-seq
MIRT2351961	hsa-miR-4437	CLIP-seq
MIRT2351962	hsa-miR-4516	CLIP-seq
MIRT2351963	hsa-miR-4531	CLIP-seq
MIRT2130638	hsa-miR-4663	CLIP-seq
MIRT2351964	hsa-miR-4664-5p	CLIP-seq
MIRT1435940	hsa-miR-4674	CLIP-seq
MIRT2130642	hsa-miR-4694-3p	CLIP-seq
MIRT2351965	hsa-miR-509-3-5p	CLIP-seq
MIRT2351966	hsa-miR-509-5p	CLIP-seq
MIRT2351967	hsa-miR-518a-5p	CLIP-seq
MIRT2351968	hsa-miR-520g	CLIP-seq
MIRT2351969	hsa-miR-520h	CLIP-seq
MIRT2351970	hsa-miR-527	CLIP-seq
MIRT1435951	hsa-miR-548v	CLIP-seq
MIRT2130650	hsa-miR-627	CLIP-seq
MIRT2130652	hsa-miR-924	CLIP-seq
MIRT1435911	hsa-miR-101	CLIP-seq
MIRT1435913	hsa-miR-125a-5p	CLIP-seq
MIRT1435914	hsa-miR-125b	CLIP-seq
MIRT2645733	hsa-miR-1276	CLIP-seq
MIRT2645734	hsa-miR-128	CLIP-seq
MIRT2645735	hsa-miR-1291	CLIP-seq
MIRT2645736	hsa-miR-1324	CLIP-seq
MIRT1435915	hsa-miR-139-5p	CLIP-seq
MIRT1435916	hsa-miR-144	CLIP-seq
MIRT2645737	hsa-miR-145	CLIP-seq
MIRT1435917	hsa-miR-1587	CLIP-seq
MIRT1435918	hsa-miR-184	CLIP-seq
MIRT2645738	hsa-miR-1913	CLIP-seq
MIRT2645739	hsa-miR-1914	CLIP-seq
MIRT2645740	hsa-miR-1972	CLIP-seq
MIRT1435919	hsa-miR-205	CLIP-seq
MIRT2645741	hsa-miR-27a	CLIP-seq
MIRT2645742	hsa-miR-27b	CLIP-seq
MIRT2645743	hsa-miR-296-5p	CLIP-seq
MIRT1435921	hsa-miR-3125	CLIP-seq
MIRT1435922	hsa-miR-3147	CLIP-seq
MIRT2645744	hsa-miR-3148	CLIP-seq
MIRT2645745	hsa-miR-3157-3p	CLIP-seq
MIRT2645746	hsa-miR-3157-5p	CLIP-seq
MIRT2645747	hsa-miR-3173-5p	CLIP-seq
MIRT2645748	hsa-miR-3189-3p	CLIP-seq
MIRT2645749	hsa-miR-324-3p	CLIP-seq
MIRT1435958	hsa-miR-338-3p	CLIP-seq
MIRT2645750	hsa-miR-345	CLIP-seq
MIRT1435925	hsa-miR-3665	CLIP-seq
MIRT1435926	hsa-miR-3691-3p	CLIP-seq
MIRT1435928	hsa-miR-3916	CLIP-seq
MIRT2645751	hsa-miR-3925-3p	CLIP-seq
MIRT2645752	hsa-miR-3927	CLIP-seq
MIRT1435929	hsa-miR-421	CLIP-seq
MIRT1435932	hsa-miR-4277	CLIP-seq
MIRT2645753	hsa-miR-4290	CLIP-seq
MIRT2645754	hsa-miR-4302	CLIP-seq
MIRT1435933	hsa-miR-4319	CLIP-seq
MIRT2645755	hsa-miR-4326	CLIP-seq
MIRT1435934	hsa-miR-4425	CLIP-seq
MIRT2645756	hsa-miR-4436b-3p	CLIP-seq
MIRT2645757	hsa-miR-4484	CLIP-seq
MIRT1435936	hsa-miR-4492	CLIP-seq
MIRT1435937	hsa-miR-4498	CLIP-seq
MIRT1435938	hsa-miR-4505	CLIP-seq
MIRT2645758	hsa-miR-4650-3p	CLIP-seq
MIRT1435939	hsa-miR-4656	CLIP-seq
MIRT2130639	hsa-miR-4668-5p	CLIP-seq
MIRT1435940	hsa-miR-4674	CLIP-seq
MIRT1435941	hsa-miR-4675	CLIP-seq
MIRT2645759	hsa-miR-4685-5p	CLIP-seq
MIRT2645760	hsa-miR-4688	CLIP-seq
MIRT2645761	hsa-miR-4704-3p	CLIP-seq
MIRT1435942	hsa-miR-4709-5p	CLIP-seq
MIRT1435943	hsa-miR-4731-5p	CLIP-seq
MIRT1435944	hsa-miR-4732-3p	CLIP-seq
MIRT1435945	hsa-miR-4736	CLIP-seq
MIRT1435946	hsa-miR-4741	CLIP-seq
MIRT2645762	hsa-miR-4749-3p	CLIP-seq
MIRT2645763	hsa-miR-4761-3p	CLIP-seq
MIRT2645764	hsa-miR-4763-5p	CLIP-seq
MIRT2645765	hsa-miR-4769-3p	CLIP-seq
MIRT1435947	hsa-miR-4804-5p	CLIP-seq
MIRT1435948	hsa-miR-486-3p	CLIP-seq
MIRT1435949	hsa-miR-494	CLIP-seq
MIRT2645766	hsa-miR-548an	CLIP-seq
MIRT1435951	hsa-miR-548v	CLIP-seq
MIRT2645767	hsa-miR-596	CLIP-seq
MIRT2645768	hsa-miR-617	CLIP-seq
MIRT2645769	hsa-miR-635	CLIP-seq
MIRT1435955	hsa-miR-670	CLIP-seq
MIRT1435956	hsa-miR-762	CLIP-seq
MIRT2645770	hsa-miR-766	CLIP-seq
MIRT2645771	hsa-miR-874	CLIP-seq
MIRT2645772	hsa-miR-938	CLIP-seq
MIRT1435957	hsa-miR-943	CLIP-seq
MIRT1435911	hsa-miR-101	CLIP-seq
MIRT1435913	hsa-miR-125a-5p	CLIP-seq
MIRT1435914	hsa-miR-125b	CLIP-seq
MIRT1435915	hsa-miR-139-5p	CLIP-seq
MIRT1435916	hsa-miR-144	CLIP-seq
MIRT1435917	hsa-miR-1587	CLIP-seq
MIRT1435918	hsa-miR-184	CLIP-seq
MIRT2645739	hsa-miR-1914	CLIP-seq
MIRT2645740	hsa-miR-1972	CLIP-seq
MIRT1435919	hsa-miR-205	CLIP-seq
MIRT2645743	hsa-miR-296-5p	CLIP-seq
MIRT1435922	hsa-miR-3147	CLIP-seq
MIRT2645745	hsa-miR-3157-3p	CLIP-seq
MIRT2645746	hsa-miR-3157-5p	CLIP-seq
MIRT2645748	hsa-miR-3189-3p	CLIP-seq
MIRT1435958	hsa-miR-338-3p	CLIP-seq
MIRT2645750	hsa-miR-345	CLIP-seq
MIRT1435925	hsa-miR-3665	CLIP-seq
MIRT1435926	hsa-miR-3691-3p	CLIP-seq
MIRT2645753	hsa-miR-4290	CLIP-seq
MIRT1435933	hsa-miR-4319	CLIP-seq
MIRT1435934	hsa-miR-4425	CLIP-seq
MIRT1435936	hsa-miR-4492	CLIP-seq
MIRT1435937	hsa-miR-4498	CLIP-seq
MIRT1435938	hsa-miR-4505	CLIP-seq
MIRT1435939	hsa-miR-4656	CLIP-seq
MIRT1435940	hsa-miR-4674	CLIP-seq
MIRT1435941	hsa-miR-4675	CLIP-seq
MIRT2645759	hsa-miR-4685-5p	CLIP-seq
MIRT2645760	hsa-miR-4688	CLIP-seq
MIRT1435943	hsa-miR-4731-5p	CLIP-seq
MIRT1435944	hsa-miR-4732-3p	CLIP-seq
MIRT1435945	hsa-miR-4736	CLIP-seq
MIRT1435946	hsa-miR-4741	CLIP-seq
MIRT2645762	hsa-miR-4749-3p	CLIP-seq
MIRT2645764	hsa-miR-4763-5p	CLIP-seq
MIRT2645765	hsa-miR-4769-3p	CLIP-seq
MIRT1435947	hsa-miR-4804-5p	CLIP-seq
MIRT1435948	hsa-miR-486-3p	CLIP-seq
MIRT1435949	hsa-miR-494	CLIP-seq
MIRT1435951	hsa-miR-548v	CLIP-seq
MIRT2645767	hsa-miR-596	CLIP-seq
MIRT2645768	hsa-miR-617	CLIP-seq
MIRT2645769	hsa-miR-635	CLIP-seq
MIRT1435955	hsa-miR-670	CLIP-seq
MIRT1435956	hsa-miR-762	CLIP-seq
MIRT2645771	hsa-miR-874	CLIP-seq
MIRT2645772	hsa-miR-938	CLIP-seq
MIRT1435957	hsa-miR-943	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26595381
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
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:0032880	Process	Regulation of protein localization	IBA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0035869	Component	Ciliary transition zone	ISS
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0060170	Component	Ciliary membrane	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060563	Process	Neuroepithelial cell differentiation	IEA

MIM	HGNC	e!Ensembl
614949	37234	ENSG00000205084

Q9H6L2

Protein name

Transmembrane protein 231

Protein function

Transmembrane 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 cili

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10149	TM231	1 → 301	Transmembrane protein 231	Family

Sequence

MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPT
VRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHF
KLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQ
KQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTI
PVTVTPRGDLCKEHLS

Sequence length

316

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliopathy	Likely pathogenic; Pathogenic	rs752141701, rs1597041976	RCV005361866 RCV001003227	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 20	Likely pathogenic; Pathogenic	rs2080804101, rs1415483600, rs750897443, rs776673877, rs2151700036, rs2151702587, rs2151711054, rs752141701, rs2151703115, rs903354438, rs1197109885, rs760455133, rs2080807114, rs2507323944, rs2507328871 View all (10 more)	RCV001329559 RCV003771697 RCV001932243 RCV001950943 RCV001878026 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs2080804101, rs1415483600, rs2507347123, rs770748954, rs397514609, rs200063331, rs397514754	RCV003155395 RCV001553696 RCV002302479 RCV003994985 RCV006262332 RCV001731886 RCV003387749 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome, type 11	Likely pathogenic; Pathogenic	rs2080804101, rs1415483600, rs2080685279, rs2151703192, rs750897443, rs776673877, rs2151700036, rs2151702587, rs2151711054, rs752141701, rs2151703115, rs903354438, rs1197109885, rs760455133, rs2080807114 View all (13 more)	RCV003770819 RCV003771697 RCV001844405 RCV001824206 RCV001932243 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs397514753	RCV000162154	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Likely pathogenic; Pathogenic	rs752141701	RCV005924373	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic; Pathogenic	rs752141701	RCV005924372	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM231-related disorder	Likely pathogenic; Pathogenic	rs752141701, rs397514753	RCV004756329 RCV003915018	★★★★★ ★★★★☆ 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.
ARIMA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CYSTIC KIDNEY DISEASE	—	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
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULORENAL DEFECT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial-digital syndrome III	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME III	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 6	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (100)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	GWASCAT_DG	28753643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	ORPHANET_DG	23012439		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arima syndrome	Arima Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	32828590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	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
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	23349226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	34354814	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of the Retina	Retinal coloboma	HPO_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 coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	28753643		★★★★★ ★☆☆☆☆ 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
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid myoclonias	Eyelid myoclonias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	23012439, 23349226, 30617574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	23012439, 23349226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 14	Joubert Syndrome	BEFREE	26595381		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 20	Joubert Syndrome	CLINVAR_DG	23012439, 25869670, 27449316		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 20	Joubert Syndrome	GENOMICS_ENGLAND_DG	23012439, 23349226, 27449316		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 20	Joubert Syndrome	UNIPROT_DG	23012439, 26477546		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with oculorenal defect	Joubert Syndrome With Oculorenal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	23012439, 23349226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	23349226, 25869670, 31663672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	23349226, 31663672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 11	Meckel Syndrome	CLINVAR_DG	23012439, 25869670, 27449316		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 11	Meckel Syndrome	GENOMICS_ENGLAND_DG	23012439, 23349226		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 11	Meckel Syndrome	UNIPROT_DG	23349226		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	23349226, 31663672		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	23349226		★★★★★ ★★★★☆ 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 only
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
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	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
Orofaciodigital syndrome 3	Orofaciodigital syndrome	ORPHANET_DG	25869670		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome type 3	Orofaciodigital Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	BEFREE	26982032		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	25869670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ 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	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
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	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
See-Saw Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_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

TMEM231 (transmembrane protein 231)