TMEM107 (transmembrane protein 107)

Gene

• Entrez ID: 84314
• Gene name: Transmembrane protein 107
• Gene symbol: TMEM107
• Synonyms (NCBI Gene): GRVS638, JBTS29, MKS13, PRO1268
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051417	hsa-let-7e-5p	CLASH	23622248
MIRT039501	hsa-miR-652-3p	CLASH	23622248
MIRT437537	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT652522	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT652521	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT652520	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT652519	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT652518	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT652522	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT652521	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT652520	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT652519	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT652518	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1429758	hsa-miR-103b	CLIP-seq
MIRT1429759	hsa-miR-1185	CLIP-seq
MIRT1429760	hsa-miR-1200	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429762	hsa-miR-1224-3p	CLIP-seq
MIRT1429763	hsa-miR-1245	CLIP-seq
MIRT1429764	hsa-miR-1253	CLIP-seq
MIRT1429765	hsa-miR-1260	CLIP-seq
MIRT1429766	hsa-miR-1260b	CLIP-seq
MIRT1429767	hsa-miR-1276	CLIP-seq
MIRT1429768	hsa-miR-1280	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429771	hsa-miR-154	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429774	hsa-miR-19a	CLIP-seq
MIRT1429775	hsa-miR-19b	CLIP-seq
MIRT1429776	hsa-miR-3074-5p	CLIP-seq
MIRT1429777	hsa-miR-3120-3p	CLIP-seq
MIRT1429778	hsa-miR-3121-3p	CLIP-seq
MIRT1429779	hsa-miR-3145-3p	CLIP-seq
MIRT1429780	hsa-miR-3158-5p	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429784	hsa-miR-3605-5p	CLIP-seq
MIRT1429785	hsa-miR-3613-3p	CLIP-seq
MIRT1429786	hsa-miR-3616-3p	CLIP-seq
MIRT1429787	hsa-miR-3622a-3p	CLIP-seq
MIRT1429788	hsa-miR-3622b-3p	CLIP-seq
MIRT1429789	hsa-miR-3679-5p	CLIP-seq
MIRT1429790	hsa-miR-376a	CLIP-seq
MIRT1429791	hsa-miR-376b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429794	hsa-miR-3942-5p	CLIP-seq
MIRT1429795	hsa-miR-4251	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429797	hsa-miR-4324	CLIP-seq
MIRT1429798	hsa-miR-4418	CLIP-seq
MIRT1429799	hsa-miR-451b	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429801	hsa-miR-4696	CLIP-seq
MIRT1429802	hsa-miR-4699-3p	CLIP-seq
MIRT1429803	hsa-miR-4703-5p	CLIP-seq
MIRT1429804	hsa-miR-4721	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429806	hsa-miR-4766-3p	CLIP-seq
MIRT1429807	hsa-miR-495	CLIP-seq
MIRT1429808	hsa-miR-509-3-5p	CLIP-seq
MIRT1429809	hsa-miR-509-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429811	hsa-miR-544b	CLIP-seq
MIRT1429812	hsa-miR-561	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429771	hsa-miR-154	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429762	hsa-miR-1224-3p	CLIP-seq
MIRT1429765	hsa-miR-1260	CLIP-seq
MIRT1429766	hsa-miR-1260b	CLIP-seq
MIRT1429768	hsa-miR-1280	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429787	hsa-miR-3622a-3p	CLIP-seq
MIRT1429788	hsa-miR-3622b-3p	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429762	hsa-miR-1224-3p	CLIP-seq
MIRT1429763	hsa-miR-1245	CLIP-seq
MIRT1429765	hsa-miR-1260	CLIP-seq
MIRT1429766	hsa-miR-1260b	CLIP-seq
MIRT1429768	hsa-miR-1280	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429787	hsa-miR-3622a-3p	CLIP-seq
MIRT1429788	hsa-miR-3622b-3p	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003127	Process	Detection of nodal flow	IEA
GO:0005515	Function	Protein binding	IPI	26595381, 32296183
GO:0005929	Component	Cilium	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0021532	Process	Neural tube patterning	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IDA	26595381
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IDA	26595381
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060271	Process	Cilium assembly	IDA	26518474
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0097094	Process	Craniofacial suture morphogenesis	IEA
GO:1904491	Process	Protein localization to ciliary transition zone	IBA
GO:1904491	Process	Protein localization to ciliary transition zone	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	26595381

Other IDs

• MIM: 616183
• HGNC: 28128
• e!Ensembl: ENSG00000179029

Protein

• UniProt ID: Q6UX40
• Protein name: Transmembrane protein 107
• Protein function: Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14995	TMEM107	7 → 129	Transmembrane protein	Family

• Sequence:

  MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPEEYDKQDIQLVAALSVT
  LGLFAVELAGFLSGVSMFNSTQSLISIGAHCSASVALSFFIFERWECTTYWYIFVFCSAL
  PAVTEMALFVTVFGLKKKPF

• Sequence length: 140

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 29	Pathogenic	rs752171066	RCV000495826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with calcifications and cysts	Pathogenic	rs1555526172	RCV004767304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome 13	Pathogenic	rs1131692180, rs1555525895	RCV000495829 RCV000495830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome	Pathogenic	rs752171066	RCV000236136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome 16	Pathogenic	rs752171066, rs1555526172	RCV000495831 RCV000495828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL-GRUBER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XVI	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM107-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ 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
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	26123494, 26518474, 28954202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	38158857	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
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
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	26595381, 28954202		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 29	Joubert syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33124203	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME 13	Meckel Syndrome	GENOMICS_ENGLAND_DG	26123494, 26518474, 26595381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MECKEL SYNDROME 13	Meckel Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	24901346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	BEFREE	26595381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	26123494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	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 I	Orofaciodigital Syndrome	BEFREE	26595381, 28954202		★☆☆☆☆ Found in Text Mining only
OROFACIODIGITAL SYNDROME XVI	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG	26123494, 26518474, 26595381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XVI	Orofaciodigital syndrome	UNIPROT_DG	26518474, 26595381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XVI	Orofaciodigital syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	CLINVAR_DG	24901346, 26518474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG	24901346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	26518474, 26595381, 28954202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	26518474		★☆☆☆☆ 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	BEFREE	26518474		★☆☆☆☆ 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
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	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