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	51524
Gene name	Transmembrane protein 138
Gene symbol	TMEM138
Synonyms (NCBI Gene)	HSPC196
Chromosome	11
Chromosome location	11q12.2
Summary	This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Muta

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907132	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387907133	C>T	Pathogenic	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs387907134	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs886039804	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs917404097	G>A	Pathogenic	Intron variant

254

Show/Hide all (254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019560	hsa-miR-340-5p	Sequencing	20371350
MIRT267395	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT267385	hsa-miR-1321	PAR-CLIP	21572407
MIRT267389	hsa-miR-4739	PAR-CLIP	21572407
MIRT267390	hsa-miR-4756-5p	PAR-CLIP	21572407
MIRT551827	hsa-miR-141-5p	PAR-CLIP	21572407
MIRT551826	hsa-miR-1237-3p	PAR-CLIP	21572407
MIRT551825	hsa-miR-1248	PAR-CLIP	21572407
MIRT551824	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT551823	hsa-miR-4635	PAR-CLIP	21572407
MIRT267386	hsa-miR-4419a	PAR-CLIP	21572407
MIRT267387	hsa-miR-4510	PAR-CLIP	21572407
MIRT267391	hsa-miR-6127	PAR-CLIP	21572407
MIRT267392	hsa-miR-6129	PAR-CLIP	21572407
MIRT267393	hsa-miR-6130	PAR-CLIP	21572407
MIRT267394	hsa-miR-6133	PAR-CLIP	21572407
MIRT551822	hsa-miR-4696	PAR-CLIP	21572407
MIRT267396	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT267397	hsa-miR-7106-5p	PAR-CLIP	21572407
MIRT551821	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT551820	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT551819	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT551818	hsa-miR-526b-5p	PAR-CLIP	21572407
MIRT551817	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT060079	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT060075	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT060079	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT131097	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT131100	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT131098	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT131102	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT060074	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT060081	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT060076	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT060085	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT060075	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT267395	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT267385	hsa-miR-1321	PAR-CLIP	21572407
MIRT267389	hsa-miR-4739	PAR-CLIP	21572407
MIRT267390	hsa-miR-4756-5p	PAR-CLIP	21572407
MIRT551827	hsa-miR-141-5p	PAR-CLIP	21572407
MIRT551826	hsa-miR-1237-3p	PAR-CLIP	21572407
MIRT551825	hsa-miR-1248	PAR-CLIP	21572407
MIRT551824	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT551823	hsa-miR-4635	PAR-CLIP	21572407
MIRT267386	hsa-miR-4419a	PAR-CLIP	21572407
MIRT267387	hsa-miR-4510	PAR-CLIP	21572407
MIRT267391	hsa-miR-6127	PAR-CLIP	21572407
MIRT267392	hsa-miR-6129	PAR-CLIP	21572407
MIRT267393	hsa-miR-6130	PAR-CLIP	21572407
MIRT267394	hsa-miR-6133	PAR-CLIP	21572407
MIRT551822	hsa-miR-4696	PAR-CLIP	21572407
MIRT267396	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT267397	hsa-miR-7106-5p	PAR-CLIP	21572407
MIRT551821	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT551820	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT551819	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT551818	hsa-miR-526b-5p	PAR-CLIP	21572407
MIRT551817	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT1431075	hsa-miR-1237	CLIP-seq
MIRT1431076	hsa-miR-1252	CLIP-seq
MIRT1431077	hsa-miR-1271	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431079	hsa-miR-133a	CLIP-seq
MIRT1431080	hsa-miR-133b	CLIP-seq
MIRT1431081	hsa-miR-1915	CLIP-seq
MIRT1431082	hsa-miR-31	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT1431084	hsa-miR-3143	CLIP-seq
MIRT1431085	hsa-miR-3182	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT1431087	hsa-miR-346	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT1431089	hsa-miR-3689a-3p	CLIP-seq
MIRT1431090	hsa-miR-3689c	CLIP-seq
MIRT1431091	hsa-miR-383	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431093	hsa-miR-4270	CLIP-seq
MIRT1431094	hsa-miR-4288	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT1431096	hsa-miR-4441	CLIP-seq
MIRT1431097	hsa-miR-4457	CLIP-seq
MIRT1431098	hsa-miR-4459	CLIP-seq
MIRT1431099	hsa-miR-4488	CLIP-seq
MIRT1431100	hsa-miR-4492	CLIP-seq
MIRT1431101	hsa-miR-4498	CLIP-seq
MIRT1431102	hsa-miR-4505	CLIP-seq
MIRT1431103	hsa-miR-4509	CLIP-seq
MIRT1431104	hsa-miR-4535	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431108	hsa-miR-4697-5p	CLIP-seq
MIRT1431109	hsa-miR-4704-3p	CLIP-seq
MIRT1431110	hsa-miR-4726-3p	CLIP-seq
MIRT1431111	hsa-miR-4728-5p	CLIP-seq
MIRT1431112	hsa-miR-4734	CLIP-seq
MIRT1431113	hsa-miR-4746-3p	CLIP-seq
MIRT1431114	hsa-miR-4768-3p	CLIP-seq
MIRT1431115	hsa-miR-4772-5p	CLIP-seq
MIRT1431116	hsa-miR-4790-3p	CLIP-seq
MIRT1431117	hsa-miR-4799-5p	CLIP-seq
MIRT1431118	hsa-miR-492	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431120	hsa-miR-513b	CLIP-seq
MIRT1431121	hsa-miR-555	CLIP-seq
MIRT1431122	hsa-miR-564	CLIP-seq
MIRT1431123	hsa-miR-632	CLIP-seq
MIRT1431124	hsa-miR-654-3p	CLIP-seq
MIRT1431125	hsa-miR-762	CLIP-seq
MIRT1431126	hsa-miR-9	CLIP-seq
MIRT1431127	hsa-miR-96	CLIP-seq
MIRT1431075	hsa-miR-1237	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT1431089	hsa-miR-3689a-3p	CLIP-seq
MIRT1431090	hsa-miR-3689c	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431099	hsa-miR-4488	CLIP-seq
MIRT1431100	hsa-miR-4492	CLIP-seq
MIRT1431101	hsa-miR-4498	CLIP-seq
MIRT1431102	hsa-miR-4505	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431108	hsa-miR-4697-5p	CLIP-seq
MIRT1431111	hsa-miR-4728-5p	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431125	hsa-miR-762	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431079	hsa-miR-133a	CLIP-seq
MIRT1431080	hsa-miR-133b	CLIP-seq
MIRT1431081	hsa-miR-1915	CLIP-seq
MIRT1431082	hsa-miR-31	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT2129220	hsa-miR-3163	CLIP-seq
MIRT2129221	hsa-miR-3189-3p	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT1431087	hsa-miR-346	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT1431091	hsa-miR-383	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431093	hsa-miR-4270	CLIP-seq
MIRT1431094	hsa-miR-4288	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT1431096	hsa-miR-4441	CLIP-seq
MIRT2129222	hsa-miR-4447	CLIP-seq
MIRT1431097	hsa-miR-4457	CLIP-seq
MIRT1431098	hsa-miR-4459	CLIP-seq
MIRT2129223	hsa-miR-4472	CLIP-seq
MIRT2129224	hsa-miR-4481	CLIP-seq
MIRT1431103	hsa-miR-4509	CLIP-seq
MIRT2129225	hsa-miR-4525	CLIP-seq
MIRT2129226	hsa-miR-4633-3p	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431109	hsa-miR-4704-3p	CLIP-seq
MIRT2129227	hsa-miR-4723-5p	CLIP-seq
MIRT1431110	hsa-miR-4726-3p	CLIP-seq
MIRT1431112	hsa-miR-4734	CLIP-seq
MIRT2129228	hsa-miR-4745-5p	CLIP-seq
MIRT1431113	hsa-miR-4746-3p	CLIP-seq
MIRT1431114	hsa-miR-4768-3p	CLIP-seq
MIRT1431115	hsa-miR-4772-5p	CLIP-seq
MIRT1431116	hsa-miR-4790-3p	CLIP-seq
MIRT1431117	hsa-miR-4799-5p	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431120	hsa-miR-513b	CLIP-seq
MIRT2129229	hsa-miR-516b	CLIP-seq
MIRT2129230	hsa-miR-625	CLIP-seq
MIRT1431123	hsa-miR-632	CLIP-seq
MIRT1431124	hsa-miR-654-3p	CLIP-seq
MIRT2129231	hsa-miR-665	CLIP-seq
MIRT1431126	hsa-miR-9	CLIP-seq
MIRT2350797	hsa-let-7a	CLIP-seq
MIRT2350798	hsa-let-7b	CLIP-seq
MIRT2350799	hsa-let-7c	CLIP-seq
MIRT2350800	hsa-let-7d	CLIP-seq
MIRT2350801	hsa-let-7e	CLIP-seq
MIRT2350802	hsa-let-7f	CLIP-seq
MIRT2350803	hsa-let-7g	CLIP-seq
MIRT2350804	hsa-let-7i	CLIP-seq
MIRT2350805	hsa-miR-1225-5p	CLIP-seq
MIRT1431075	hsa-miR-1237	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431079	hsa-miR-133a	CLIP-seq
MIRT1431080	hsa-miR-133b	CLIP-seq
MIRT1431082	hsa-miR-31	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT2350806	hsa-miR-3154	CLIP-seq
MIRT2129220	hsa-miR-3163	CLIP-seq
MIRT1431085	hsa-miR-3182	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT2350807	hsa-miR-3202	CLIP-seq
MIRT1431087	hsa-miR-346	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT2350808	hsa-miR-3616-3p	CLIP-seq
MIRT1431089	hsa-miR-3689a-3p	CLIP-seq
MIRT1431090	hsa-miR-3689c	CLIP-seq
MIRT1431091	hsa-miR-383	CLIP-seq
MIRT2350809	hsa-miR-3927	CLIP-seq
MIRT2350810	hsa-miR-4257	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431093	hsa-miR-4270	CLIP-seq
MIRT1431094	hsa-miR-4288	CLIP-seq
MIRT2350811	hsa-miR-4303	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT2350812	hsa-miR-4436b-3p	CLIP-seq
MIRT1431096	hsa-miR-4441	CLIP-seq
MIRT1431097	hsa-miR-4457	CLIP-seq
MIRT2350813	hsa-miR-4458	CLIP-seq
MIRT1431098	hsa-miR-4459	CLIP-seq
MIRT1431099	hsa-miR-4488	CLIP-seq
MIRT1431100	hsa-miR-4492	CLIP-seq
MIRT1431101	hsa-miR-4498	CLIP-seq
MIRT2350814	hsa-miR-4500	CLIP-seq
MIRT1431102	hsa-miR-4505	CLIP-seq
MIRT2350815	hsa-miR-4539	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT2350816	hsa-miR-4649-3p	CLIP-seq
MIRT2350817	hsa-miR-4650-3p	CLIP-seq
MIRT2350818	hsa-miR-4659a-3p	CLIP-seq
MIRT2350819	hsa-miR-4659b-3p	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431108	hsa-miR-4697-5p	CLIP-seq
MIRT1431109	hsa-miR-4704-3p	CLIP-seq
MIRT2350820	hsa-miR-4721	CLIP-seq
MIRT1431111	hsa-miR-4728-5p	CLIP-seq
MIRT1431112	hsa-miR-4734	CLIP-seq
MIRT1431113	hsa-miR-4746-3p	CLIP-seq
MIRT1431114	hsa-miR-4768-3p	CLIP-seq
MIRT1431115	hsa-miR-4772-5p	CLIP-seq
MIRT1431117	hsa-miR-4799-5p	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431120	hsa-miR-513b	CLIP-seq
MIRT2350821	hsa-miR-548c-3p	CLIP-seq
MIRT1431121	hsa-miR-555	CLIP-seq
MIRT1431123	hsa-miR-632	CLIP-seq
MIRT1431124	hsa-miR-654-3p	CLIP-seq
MIRT1431125	hsa-miR-762	CLIP-seq
MIRT1431126	hsa-miR-9	CLIP-seq
MIRT2350822	hsa-miR-98	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT2129222	hsa-miR-4447	CLIP-seq
MIRT2129223	hsa-miR-4472	CLIP-seq
MIRT2129224	hsa-miR-4481	CLIP-seq
MIRT2129226	hsa-miR-4633-3p	CLIP-seq
MIRT2129228	hsa-miR-4745-5p	CLIP-seq
MIRT2129229	hsa-miR-516b	CLIP-seq
MIRT2129231	hsa-miR-665	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005773	Component	Vacuole	IEA
GO:0005774	Component	Vacuolar membrane	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	22282472
GO:0005929	Component	Cilium	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IMP	22282472

MIM	HGNC	e!Ensembl
614459	26944	ENSG00000149483

Q9NPI0

Protein name

Transmembrane protein 138

Protein function

Required for ciliogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14935	TMEM138	38 → 156	Transmembrane protein 138	Family

Sequence

MLQTSNYSLVLSLQFLLLSYDLFVNSFSELLQKTPVIQLVLFIIQDIAVLFNIIIIFLMF
FNTFVFQAGLVNLLFHKFKGTIILTAVYFALSISLHVWVMNLRWKNSNSFIWTDGLQMLF
VFQRLAAVLYCYFYKRTAVRLGDPHFYQDSLWLRKEFMQVRR

Sequence length

162

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome 16	Pathogenic; Likely pathogenic	rs2135153244, rs771224190, rs146264153, rs2135163033, rs1554970010, rs2539869968, rs917404097, rs387907132, rs387907133, rs387907134, rs774110963	RCV001924057 RCV001999542 RCV001956237 RCV002785471 RCV002830180 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs917404097	RCV002271376	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Likely pathogenic	rs886039804	RCV000256454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs917404097	RCV005888664	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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
ARIMA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULORENAL DEFECT	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM138-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arima syndrome	Arima Syndrome	GENOMICS_ENGLAND_DG	22282472		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arima syndrome	Arima Syndrome	ORPHANET_DG	22282472		★★★★★ ★★☆☆☆ 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
Ciliopathies	Ciliopathy	Pubtator	34354814, 35394880	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 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 ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	22282472		★★★★★ ★★☆☆☆ 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
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 16	Joubert Syndrome	GENOMICS_ENGLAND_DG	22282472		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 16	Joubert Syndrome	UNIPROT_DG	22282472		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 16	Joubert Syndrome	CLINVAR_DG	26092869		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with oculorenal defect	Joubert Syndrome With Oculorenal 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-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	CLINVAR_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
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_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
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
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM138 (transmembrane protein 138)