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	65062
Gene name	Transmembrane protein 237
Gene symbol	TMEM237
Synonyms (NCBI Gene)	ALS2CR4JBTS14
Chromosome	2
Chromosome location	2q33.1
Summary	The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provide

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138509553	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149240122	G>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs199469707	G>A	Pathogenic	Coding sequence variant, stop gained
rs387907131	G>A	Pathogenic	Coding sequence variant, stop gained
rs730882231	C>T	Likely-pathogenic	Splice donor variant
rs748510210	C>A	Pathogenic	Splice donor variant
rs751952525	->G	Pathogenic	Frameshift variant, coding sequence variant
rs775449384	G>A	Pathogenic	Coding sequence variant, stop gained
rs793888505	C>A,T	Pathogenic	Splice donor variant
rs972221242	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1445957469	T>C	Likely-pathogenic	Splice acceptor variant
rs1553660344	->TTGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559590832	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1574582671	T>C	Pathogenic	Splice acceptor variant
rs1574587553	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

209

Show/Hide all (209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045657	hsa-miR-149-5p	CLASH	23622248
MIRT496667	hsa-miR-548aa	PAR-CLIP	22291592
MIRT496666	hsa-miR-548ap-3p	PAR-CLIP	22291592
MIRT496665	hsa-miR-548t-3p	PAR-CLIP	22291592
MIRT496664	hsa-miR-1911-3p	PAR-CLIP	22291592
MIRT496663	hsa-miR-29a-3p	PAR-CLIP	22291592
MIRT496662	hsa-miR-29b-3p	PAR-CLIP	22291592
MIRT496661	hsa-miR-29c-3p	PAR-CLIP	22291592
MIRT496660	hsa-miR-4733-3p	PAR-CLIP	22291592
MIRT496659	hsa-miR-3065-3p	PAR-CLIP	22291592
MIRT496658	hsa-miR-1972	PAR-CLIP	22291592
MIRT496657	hsa-miR-3926	PAR-CLIP	22291592
MIRT496656	hsa-miR-6721-5p	PAR-CLIP	22291592
MIRT496667	hsa-miR-548aa	PAR-CLIP	22291592
MIRT496666	hsa-miR-548ap-3p	PAR-CLIP	22291592
MIRT496665	hsa-miR-548t-3p	PAR-CLIP	22291592
MIRT496664	hsa-miR-1911-3p	PAR-CLIP	22291592
MIRT496663	hsa-miR-29a-3p	PAR-CLIP	22291592
MIRT496662	hsa-miR-29b-3p	PAR-CLIP	22291592
MIRT496661	hsa-miR-29c-3p	PAR-CLIP	22291592
MIRT496660	hsa-miR-4733-3p	PAR-CLIP	22291592
MIRT496659	hsa-miR-3065-3p	PAR-CLIP	22291592
MIRT496658	hsa-miR-1972	PAR-CLIP	22291592
MIRT496657	hsa-miR-3926	PAR-CLIP	22291592
MIRT496656	hsa-miR-6721-5p	PAR-CLIP	22291592
MIRT1436109	hsa-miR-103a	CLIP-seq
MIRT1436110	hsa-miR-107	CLIP-seq
MIRT1436111	hsa-miR-1178	CLIP-seq
MIRT1436112	hsa-miR-1202	CLIP-seq
MIRT1436113	hsa-miR-1207-3p	CLIP-seq
MIRT1436114	hsa-miR-1208	CLIP-seq
MIRT1436115	hsa-miR-1321	CLIP-seq
MIRT739935	hsa-miR-1324	CLIP-seq
MIRT1436116	hsa-miR-15a	CLIP-seq
MIRT1436117	hsa-miR-15b	CLIP-seq
MIRT1436118	hsa-miR-16	CLIP-seq
MIRT1436119	hsa-miR-195	CLIP-seq
MIRT1436120	hsa-miR-2276	CLIP-seq
MIRT1436121	hsa-miR-23a	CLIP-seq
MIRT1436122	hsa-miR-23b	CLIP-seq
MIRT1436123	hsa-miR-23c	CLIP-seq
MIRT1436124	hsa-miR-27a	CLIP-seq
MIRT1436125	hsa-miR-27b	CLIP-seq
MIRT1436126	hsa-miR-3136-3p	CLIP-seq
MIRT1436127	hsa-miR-3153	CLIP-seq
MIRT1436128	hsa-miR-3182	CLIP-seq
MIRT1436129	hsa-miR-3187-3p	CLIP-seq
MIRT1436130	hsa-miR-3189-3p	CLIP-seq
MIRT1436131	hsa-miR-3194-5p	CLIP-seq
MIRT1436132	hsa-miR-329	CLIP-seq
MIRT739936	hsa-miR-361-5p	CLIP-seq
MIRT1436133	hsa-miR-362-3p	CLIP-seq
MIRT1436134	hsa-miR-362-5p	CLIP-seq
MIRT1436135	hsa-miR-3646	CLIP-seq
MIRT1436136	hsa-miR-3941	CLIP-seq
MIRT1436137	hsa-miR-3972	CLIP-seq
MIRT1436138	hsa-miR-3974	CLIP-seq
MIRT1436139	hsa-miR-424	CLIP-seq
MIRT1436140	hsa-miR-4270	CLIP-seq
MIRT1436141	hsa-miR-4289	CLIP-seq
MIRT1436142	hsa-miR-4310	CLIP-seq
MIRT1436143	hsa-miR-4435	CLIP-seq
MIRT1436144	hsa-miR-4441	CLIP-seq
MIRT1436145	hsa-miR-4463	CLIP-seq
MIRT1436146	hsa-miR-4494	CLIP-seq
MIRT739937	hsa-miR-4528	CLIP-seq
MIRT1436147	hsa-miR-4639-3p	CLIP-seq
MIRT1436148	hsa-miR-4668-5p	CLIP-seq
MIRT1436149	hsa-miR-4677-3p	CLIP-seq
MIRT1436150	hsa-miR-4701-5p	CLIP-seq
MIRT1436151	hsa-miR-4708-3p	CLIP-seq
MIRT1436152	hsa-miR-4733-5p	CLIP-seq
MIRT1436153	hsa-miR-4739	CLIP-seq
MIRT1436154	hsa-miR-4756-5p	CLIP-seq
MIRT1436155	hsa-miR-4778-5p	CLIP-seq
MIRT1436156	hsa-miR-4802-3p	CLIP-seq
MIRT1436157	hsa-miR-497	CLIP-seq
MIRT1436158	hsa-miR-500b	CLIP-seq
MIRT1436159	hsa-miR-501-5p	CLIP-seq
MIRT1436160	hsa-miR-502-5p	CLIP-seq
MIRT1436161	hsa-miR-510	CLIP-seq
MIRT1436162	hsa-miR-512-5p	CLIP-seq
MIRT1436163	hsa-miR-513a-5p	CLIP-seq
MIRT1436164	hsa-miR-513b	CLIP-seq
MIRT1436165	hsa-miR-514	CLIP-seq
MIRT1436166	hsa-miR-514b-3p	CLIP-seq
MIRT1436167	hsa-miR-545	CLIP-seq
MIRT1436168	hsa-miR-548s	CLIP-seq
MIRT1436169	hsa-miR-549	CLIP-seq
MIRT1436170	hsa-miR-588	CLIP-seq
MIRT1436171	hsa-miR-597	CLIP-seq
MIRT1436172	hsa-miR-603	CLIP-seq
MIRT1436173	hsa-miR-624	CLIP-seq
MIRT1436174	hsa-miR-668	CLIP-seq
MIRT1436175	hsa-miR-7	CLIP-seq
MIRT1436176	hsa-miR-759	CLIP-seq
MIRT1436112	hsa-miR-1202	CLIP-seq
MIRT2130707	hsa-miR-1261	CLIP-seq
MIRT2130708	hsa-miR-1276	CLIP-seq
MIRT2130709	hsa-miR-3135b	CLIP-seq
MIRT2130710	hsa-miR-3168	CLIP-seq
MIRT1436128	hsa-miR-3182	CLIP-seq
MIRT1436131	hsa-miR-3194-5p	CLIP-seq
MIRT2130711	hsa-miR-3201	CLIP-seq
MIRT2130712	hsa-miR-3660	CLIP-seq
MIRT1436137	hsa-miR-3972	CLIP-seq
MIRT2130713	hsa-miR-4434	CLIP-seq
MIRT2130714	hsa-miR-4487	CLIP-seq
MIRT2130715	hsa-miR-4516	CLIP-seq
MIRT2130716	hsa-miR-4526	CLIP-seq
MIRT2130717	hsa-miR-4531	CLIP-seq
MIRT2130718	hsa-miR-4660	CLIP-seq
MIRT1436149	hsa-miR-4677-3p	CLIP-seq
MIRT2130719	hsa-miR-4679	CLIP-seq
MIRT2130720	hsa-miR-4709-3p	CLIP-seq
MIRT2130721	hsa-miR-4755-5p	CLIP-seq
MIRT2130722	hsa-miR-4773	CLIP-seq
MIRT1436155	hsa-miR-4778-5p	CLIP-seq
MIRT2130723	hsa-miR-4791	CLIP-seq
MIRT1436164	hsa-miR-513b	CLIP-seq
MIRT1436167	hsa-miR-545	CLIP-seq
MIRT1436109	hsa-miR-103a	CLIP-seq
MIRT1436110	hsa-miR-107	CLIP-seq
MIRT1436114	hsa-miR-1208	CLIP-seq
MIRT2352012	hsa-miR-1279	CLIP-seq
MIRT2352013	hsa-miR-128	CLIP-seq
MIRT2352014	hsa-miR-1343	CLIP-seq
MIRT1436116	hsa-miR-15a	CLIP-seq
MIRT1436117	hsa-miR-15b	CLIP-seq
MIRT1436118	hsa-miR-16	CLIP-seq
MIRT1436119	hsa-miR-195	CLIP-seq
MIRT2352015	hsa-miR-2115	CLIP-seq
MIRT1436121	hsa-miR-23a	CLIP-seq
MIRT1436122	hsa-miR-23b	CLIP-seq
MIRT1436123	hsa-miR-23c	CLIP-seq
MIRT1436124	hsa-miR-27a	CLIP-seq
MIRT1436125	hsa-miR-27b	CLIP-seq
MIRT2352016	hsa-miR-3143	CLIP-seq
MIRT2352017	hsa-miR-3148	CLIP-seq
MIRT2352018	hsa-miR-320a	CLIP-seq
MIRT2352019	hsa-miR-320b	CLIP-seq
MIRT2352020	hsa-miR-320c	CLIP-seq
MIRT2352021	hsa-miR-320d	CLIP-seq
MIRT2352022	hsa-miR-3690	CLIP-seq
MIRT2352023	hsa-miR-3938	CLIP-seq
MIRT1436139	hsa-miR-424	CLIP-seq
MIRT2352024	hsa-miR-4254	CLIP-seq
MIRT1436142	hsa-miR-4310	CLIP-seq
MIRT2352025	hsa-miR-4429	CLIP-seq
MIRT2352026	hsa-miR-4433	CLIP-seq
MIRT2352027	hsa-miR-4459	CLIP-seq
MIRT1436145	hsa-miR-4463	CLIP-seq
MIRT1436146	hsa-miR-4494	CLIP-seq
MIRT2352028	hsa-miR-4524	CLIP-seq
MIRT739937	hsa-miR-4528	CLIP-seq
MIRT1436149	hsa-miR-4677-3p	CLIP-seq
MIRT2352029	hsa-miR-4768-3p	CLIP-seq
MIRT1436157	hsa-miR-497	CLIP-seq
MIRT1436163	hsa-miR-513a-5p	CLIP-seq
MIRT1436165	hsa-miR-514	CLIP-seq
MIRT1436166	hsa-miR-514b-3p	CLIP-seq
MIRT2352030	hsa-miR-516a-3p	CLIP-seq
MIRT2352031	hsa-miR-543	CLIP-seq
MIRT1436167	hsa-miR-545	CLIP-seq
MIRT2352032	hsa-miR-548l	CLIP-seq
MIRT2352033	hsa-miR-586	CLIP-seq
MIRT1436174	hsa-miR-668	CLIP-seq
MIRT2352034	hsa-miR-670	CLIP-seq
MIRT2395999	hsa-miR-3127-5p	CLIP-seq
MIRT2396000	hsa-miR-3918	CLIP-seq
MIRT1436149	hsa-miR-4677-3p	CLIP-seq
MIRT2434114	hsa-miR-3123	CLIP-seq
MIRT2434115	hsa-miR-3180-5p	CLIP-seq
MIRT2434116	hsa-miR-3919	CLIP-seq
MIRT2434117	hsa-miR-520a-5p	CLIP-seq
MIRT2434118	hsa-miR-525-5p	CLIP-seq
MIRT2434114	hsa-miR-3123	CLIP-seq
MIRT2434115	hsa-miR-3180-5p	CLIP-seq
MIRT2434116	hsa-miR-3919	CLIP-seq
MIRT2434117	hsa-miR-520a-5p	CLIP-seq
MIRT2434118	hsa-miR-525-5p	CLIP-seq
MIRT2434114	hsa-miR-3123	CLIP-seq
MIRT2434115	hsa-miR-3180-5p	CLIP-seq
MIRT2434116	hsa-miR-3919	CLIP-seq
MIRT2434117	hsa-miR-520a-5p	CLIP-seq
MIRT2434118	hsa-miR-525-5p	CLIP-seq
MIRT2645844	hsa-miR-138	CLIP-seq
MIRT2645845	hsa-miR-155	CLIP-seq
MIRT2645846	hsa-miR-198	CLIP-seq
MIRT2645847	hsa-miR-204	CLIP-seq
MIRT2645848	hsa-miR-211	CLIP-seq
MIRT2645849	hsa-miR-3146	CLIP-seq
MIRT2645850	hsa-miR-338-3p	CLIP-seq
MIRT2645851	hsa-miR-3614-5p	CLIP-seq
MIRT2645852	hsa-miR-3682-3p	CLIP-seq
MIRT2352023	hsa-miR-3938	CLIP-seq
MIRT2645853	hsa-miR-4305	CLIP-seq
MIRT2645854	hsa-miR-4426	CLIP-seq
MIRT739937	hsa-miR-4528	CLIP-seq
MIRT2645855	hsa-miR-4530	CLIP-seq
MIRT1436147	hsa-miR-4639-3p	CLIP-seq
MIRT2645856	hsa-miR-4647	CLIP-seq
MIRT2130718	hsa-miR-4660	CLIP-seq
MIRT2645857	hsa-miR-4662b	CLIP-seq
MIRT2130721	hsa-miR-4755-5p	CLIP-seq
MIRT2645858	hsa-miR-616	CLIP-seq
MIRT2645859	hsa-miR-623	CLIP-seq
MIRT2645860	hsa-miR-626	CLIP-seq
MIRT2645861	hsa-miR-646	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26595381, 32296183, 35156780, 36012204
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030030	Process	Cell projection organization	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IMP	22152675
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	22152675
GO:0035869	Component	Ciliary transition zone	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	22152675
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:0120200	Component	Rod photoreceptor outer segment	IEA

MIM	HGNC	e!Ensembl
614423	14432	ENSG00000155755

Q96Q45

Protein name

Transmembrane protein 237 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein)

Protein function

Component of the transition zone in primary cilia. Required for ciliogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15383	TMEM237	140 → 384	Transmembrane protein 237	Family

Sequence

MRTDSGARLEEGHLRPPRALPPVPSQDDIPLSRPKKKKPRTKNTPASASLEGLAQTAGRR
PSEGNEPSTKELKEHPEAPVQRRQKKTRLPLELETSSTQKKSSSSSLLRNENGIDAEPAE
EAVIQKPRRKTKKTQPAELQYANELGVEDEDIITDEQTTVEQQSVFTAPTGISQPVGKVF
VEKSRRFQAADRSELIKTTENIDVSMDVKPSWTTRDVALTVHRAFRMIGLFSHGFLAGCA
VWNIVVIYVLAGDQLSNLSNLLQQYKTLAYPFQSLLYLLLALSTISAFDRIDFAKISVAI
RNFLALDPTALASFLYFTALILSLSQQMTSDRIHLYTPSSVNGSLWEAGIEEQILQPWIV
VNLVVALLVGLSWLFLSYRPGMDLSEELMFSSEVEEYPDKEKEIKASS

Sequence length

408

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome	Pathogenic; Likely pathogenic	rs199469707, rs1574587553	RCV000034999 RCV000825548	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 14	Pathogenic; Likely pathogenic	rs1311551510, rs768528861, rs756970007, rs902145121, rs2105899220, rs1957813141, rs2105900861, rs1687223389, rs565778005, rs730882231, rs776665329, rs2469498201, rs2105900297, rs2469493635, rs2469508905 View all (13 more)	RCV001375992 RCV001389225 RCV001381533 RCV001993335 RCV002037785 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs2105899200, rs776665329, rs199469707, rs80034299	RCV002238587 RCV003155510 RCV002265568 RCV003226424	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs730882231	RCV000162151	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM237-related disorder	Likely pathogenic; Pathogenic	rs1234599681, rs2469494613, rs199469707, rs778823927	RCV003397503 RCV003404457 RCV004748538 RCV003413989	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

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
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULORENAL DEFECT	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH RENAL DEFECT	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	GENOMICS_ENGLAND_DG	22152675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arima syndrome	Arima Syndrome	ORPHANET_DG	22152675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22152675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	28596487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	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 Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31238879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	22152675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	22152675, 22693042		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	22152675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	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
Hypertensive disease	Hypertension	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	22152675, 22693042		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME 14	Joubert Syndrome	GENOMICS_ENGLAND_DG	17603801, 22152675		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 14	Joubert Syndrome	CLINVAR_DG	22152675, 26092869		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 14	Joubert Syndrome	BEFREE	26595381		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 4 (disorder)	Joubert syndrome	ORPHANET_DG	22152675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome with oculorenal defect	Joubert Syndrome With Oculorenal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with renal defect	Joubert Syndrome With Renal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	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 type 1	Meckel-gruber syndrome	Pubtator	26729329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Morning glory anomaly	Morning glory anomaly	HPO_DG			★★★★★ ★☆☆☆☆ 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
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	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
Scoliosis, unspecified	Scoliosis	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
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28236344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28236344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM237 (transmembrane protein 237)