TMEM216 (transmembrane protein 216)

Gene

• Entrez ID: 51259
• Gene name: Transmembrane protein 216
• Gene symbol: TMEM216
• Synonyms (NCBI Gene): HSPC244, RP98
• Chromosome: 11
• Chromosome location: 11q12.2
• Summary: This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11230683	C>A,G,T	Benign-likely-benign, benign, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, stop gained, synonymous variant, coding sequence variant
rs57932685	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147267631	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs201108965	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs386833830	G>C,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs386833831	T>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs541666319	T>C	Benign, likely-pathogenic	Coding sequence variant, synonymous variant
rs569734777	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs749351351	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755459875	T>G	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs767384710	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779526456	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs900061092	A>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs1057517498	T>C,G	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1057517512	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517528	A>G	Likely-pathogenic	Splice acceptor variant
rs1057520085	GCTCCTTTTTCAGGT>-	Likely-pathogenic	Intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1554972547	G>A	Likely-pathogenic	Splice acceptor variant
rs1554972556	ACCTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554972958	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT698241	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT698240	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT698239	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT698238	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT698236	hsa-miR-3929	HITS-CLIP	23313552
MIRT698237	hsa-miR-4419b	HITS-CLIP	23313552
MIRT698235	hsa-miR-4478	HITS-CLIP	23313552
MIRT698234	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT698233	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT698232	hsa-miR-4459	HITS-CLIP	23313552
MIRT698231	hsa-miR-665	HITS-CLIP	23313552
MIRT698230	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT698229	hsa-miR-1827	HITS-CLIP	23313552
MIRT698228	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT698227	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT698226	hsa-miR-298	HITS-CLIP	23313552
MIRT698225	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT698224	hsa-miR-1273e	HITS-CLIP	23313552
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT647159	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT647158	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT647157	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT647156	hsa-miR-4518	HITS-CLIP	23824327
MIRT647155	hsa-miR-3185	HITS-CLIP	23824327
MIRT698241	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT698240	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT698239	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT698238	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT698236	hsa-miR-3929	HITS-CLIP	23313552
MIRT698237	hsa-miR-4419b	HITS-CLIP	23313552
MIRT698235	hsa-miR-4478	HITS-CLIP	23313552
MIRT698234	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT698233	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT698232	hsa-miR-4459	HITS-CLIP	23313552
MIRT698231	hsa-miR-665	HITS-CLIP	23313552
MIRT698230	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT698229	hsa-miR-1827	HITS-CLIP	23313552
MIRT698228	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT698227	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT698226	hsa-miR-298	HITS-CLIP	23313552
MIRT698225	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT698224	hsa-miR-1273e	HITS-CLIP	23313552
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT647159	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT647158	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT647157	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT647156	hsa-miR-4518	HITS-CLIP	23824327
MIRT647155	hsa-miR-3185	HITS-CLIP	23824327
MIRT1435473	hsa-miR-146a	CLIP-seq
MIRT1435474	hsa-miR-146b-5p	CLIP-seq
MIRT1435475	hsa-miR-1909	CLIP-seq
MIRT1435476	hsa-miR-214	CLIP-seq
MIRT1435477	hsa-miR-3150b-3p	CLIP-seq
MIRT1435478	hsa-miR-3170	CLIP-seq
MIRT1435479	hsa-miR-3190	CLIP-seq
MIRT1435480	hsa-miR-3199	CLIP-seq
MIRT1435481	hsa-miR-342-5p	CLIP-seq
MIRT1435482	hsa-miR-3619-5p	CLIP-seq
MIRT1435483	hsa-miR-382	CLIP-seq
MIRT1435484	hsa-miR-4264	CLIP-seq
MIRT1435485	hsa-miR-4291	CLIP-seq
MIRT1435486	hsa-miR-4515	CLIP-seq
MIRT1435487	hsa-miR-4651	CLIP-seq
MIRT1435488	hsa-miR-4652-5p	CLIP-seq
MIRT1435489	hsa-miR-4664-5p	CLIP-seq
MIRT1435490	hsa-miR-4752	CLIP-seq
MIRT1435491	hsa-miR-4784	CLIP-seq
MIRT1435492	hsa-miR-608	CLIP-seq
MIRT1435493	hsa-miR-622	CLIP-seq
MIRT1435494	hsa-miR-761	CLIP-seq
MIRT1435495	hsa-miR-922	CLIP-seq
MIRT2645531	hsa-miR-4772-3p	CLIP-seq
MIRT2645531	hsa-miR-4772-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26595381
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	22282472
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	22282472
GO:1905515	Process	Non-motile cilium assembly	IBA

Other IDs

• MIM: 613277
• HGNC: 25018
• e!Ensembl: ENSG00000187049

Protein

• UniProt ID: Q9P0N5
• Protein name: Transmembrane protein 216
• Protein function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09799	Transmemb_17	22 → 128	Predicted membrane protein	Family

• Sequence:

  MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDV
  VMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIM
  NGILLFFCGSELLLEVLTLAAFSRI

• Sequence length: 145

Pathways

Reactome:

Anchoring of the basal body to the plasma membrane

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Joubert syndrome	Likely pathogenic; Pathogenic	rs1858735439, rs1304320833, rs2135195989, rs2135196385, rs2135191306, rs2135190154, rs2135190077, rs2135189980, rs201108965, rs1362597973, rs968023665, rs2539896690, rs755459875, rs2539891609, rs2539892774, rs2539896401, rs2539891739, rs1413884641, rs2539896387, rs1057517498, rs1057517528, rs767384710, rs1057520085, rs1554972547, rs1565088283, rs11230683, rs1211592806	RCV001377336 RCV001386110 RCV001388868 RCV001382952 RCV001987076 RCV001954494 RCV001958831 RCV001995030 RCV000465185 RCV001038780 RCV002685979 RCV002735620 RCV002875745 RCV003007617 RCV001853240 RCV003496256 RCV003494961 RCV003495947 RCV003496057 RCV003496681 RCV003599323 RCV003599605 RCV001053497 RCV002524628 RCV002523886 RCV001851024 RCV000810263 RCV002535030 RCV000822982 RCV001235530	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 2	Likely pathogenic; Pathogenic	rs1858735439, rs1304320833, rs1858737558, rs2135191306, rs201108965, rs755459875, rs2539891669, rs2539896547, rs2539892835, rs2539890521, rs2539892830, rs1858720964, rs2539892764, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs1057520085, rs1554972958, rs147267631, rs1554972547, rs1554972556, rs1565088283, rs11230683, rs1211592806	RCV004570922 RCV004570959 RCV003463046 RCV003464368 RCV000000220 RCV000000221 RCV000201555 RCV003466449 RCV003464692 RCV003466450 RCV003464693 RCV003464694 RCV003464695 RCV003464696 RCV004573745 RCV000411402 RCV000410496 RCV000412090 RCV000410191 RCV000410198 RCV001828393 RCV001787351 RCV001787343 RCV001787350 RCV001787340 RCV003465652 RCV000201650 RCV002480768	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome, type 2	Likely pathogenic; Pathogenic	rs2135191306, rs201108965, rs386833831, rs386833830, rs755459875, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs1057520085, rs1554972958, rs147267631, rs1554972547, rs1554972556, rs1565088283, rs11230683, rs1211592806	RCV005050506 RCV000409114 RCV000024013 RCV000000222 RCV000000223 RCV002503792 RCV000409881 RCV000409368 RCV000411381 RCV000412251 RCV000412190 RCV005049545 RCV001787351 RCV001787343 RCV001787350 RCV001787340 RCV004796293 RCV000049797 RCV002480768	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 98	Likely pathogenic	rs1057517528	RCV004776284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM216-related disorder	Pathogenic; Likely pathogenic	rs201108965, rs755459875, rs11230683	RCV000779066 RCV004530208 RCV000779067	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARIMA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	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
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ 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
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Benign	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
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel-Gruber syndrome	Benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 6	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	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 corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	GENOMICS_ENGLAND_DG	20036350, 20512146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128, 39191256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	22282472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	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 Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	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
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20036350, 20512146, 26092869		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	20036350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	20036350, 20512146, 22282472, 23351400, 26092869, 26673778, 28497568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	20512146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	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
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 2	Joubert Syndrome	BEFREE	20036350, 20512146		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 2	Joubert Syndrome	UNIPROT_DG	20036350, 20512146, 22282472, 22425360		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 2	Joubert Syndrome	CLINVAR_DG	20036350, 20512146, 22282472, 23351400, 26092869, 28497568		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 2	Joubert Syndrome	GENOMICS_ENGLAND_DG	20036350, 20512146		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 2	Joubert syndrome	Pubtator	20036350	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 2	Joubert Syndrome	CTD_human_DG			★★★★★ 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
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	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	20036350, 20512146		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	20512146		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	21493627	Associate	★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 2	Meckel Syndrome	CLINVAR_DG	20036350, 20512146, 22282472, 23351400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 2	Meckel Syndrome	UNIPROT_DG	20512146		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 2	Meckel Syndrome	GENOMICS_ENGLAND_DG	20512146		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 2	Meckel Syndrome	BEFREE	24178751		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 2	Meckel Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	20512146, 21110233		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	20036350, 20512146, 26092869		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	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
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome type 6	Orofaciodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	ORPHANET_DG	20615230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	23972372		★☆☆☆☆ 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	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 preaxial type 1	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
Radial polydactyly	Radial Polydactyly	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
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	39191256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHYNS syndrome	Rhyns syndrome	Pubtator	39191256	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	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
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	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