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	60681
Gene name	FKBP prolyl isomerase 10
Gene symbol	FKBP10
Synonyms (NCBI Gene)	BRKSBRKS1FKBP65OI11OI6PPIASETLH1hFKBP65
Chromosome	17
Chromosome location	17q21.2
Summary	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoform

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61749879	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs137853883	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs140027863	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs141387386	G>T	Likely-pathogenic, uncertain-significance	Intron variant
rs372896892	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387906960	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs387907325	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397509383	CC>A	Pathogenic	Frameshift variant, coding sequence variant
rs397514674	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs797044559	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs797044852	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025223	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs869320752	TAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs886044880	T>G	Pathogenic	Splice donor variant
rs1555616334	A>G	Pathogenic	Splice acceptor variant
rs1555616552	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1567855132	->TGATGGAC	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1567856056	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1597905563	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1597906442	->GACTTTGTCCGCTACCACTACAATGGCACC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1597907877	A>G	Likely-pathogenic	Splice acceptor variant
rs1597908085	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021739	hsa-miR-132-3p	Microarray	17612493
MIRT021875	hsa-miR-128-3p	Microarray	17612493
MIRT025084	hsa-miR-181a-5p	Microarray	17612493
MIRT051795	hsa-let-7c-5p	CLASH	23622248
MIRT440641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT997120	hsa-miR-1321	CLIP-seq
MIRT997121	hsa-miR-134	CLIP-seq
MIRT997122	hsa-miR-1470	CLIP-seq
MIRT997123	hsa-miR-1913	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997125	hsa-miR-28-5p	CLIP-seq
MIRT997126	hsa-miR-3118	CLIP-seq
MIRT997127	hsa-miR-3127-3p	CLIP-seq
MIRT997128	hsa-miR-3139	CLIP-seq
MIRT997129	hsa-miR-3194-3p	CLIP-seq
MIRT997130	hsa-miR-324-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997133	hsa-miR-3678-3p	CLIP-seq
MIRT997134	hsa-miR-3714	CLIP-seq
MIRT997135	hsa-miR-3944-5p	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT997137	hsa-miR-4297	CLIP-seq
MIRT997138	hsa-miR-4419a	CLIP-seq
MIRT997139	hsa-miR-4469	CLIP-seq
MIRT997140	hsa-miR-4476	CLIP-seq
MIRT997141	hsa-miR-4510	CLIP-seq
MIRT997142	hsa-miR-4530	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997144	hsa-miR-4667-3p	CLIP-seq
MIRT997145	hsa-miR-4728-5p	CLIP-seq
MIRT997146	hsa-miR-4739	CLIP-seq
MIRT997147	hsa-miR-4756-5p	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997149	hsa-miR-532-3p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997151	hsa-miR-615-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT997153	hsa-miR-708	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq
MIRT997155	hsa-miR-943	CLIP-seq
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT997120	hsa-miR-1321	CLIP-seq
MIRT997121	hsa-miR-134	CLIP-seq
MIRT997122	hsa-miR-1470	CLIP-seq
MIRT997123	hsa-miR-1913	CLIP-seq
MIRT1995679	hsa-miR-2110	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997126	hsa-miR-3118	CLIP-seq
MIRT1995680	hsa-miR-3150a-3p	CLIP-seq
MIRT1995681	hsa-miR-3162-5p	CLIP-seq
MIRT1995682	hsa-miR-3175	CLIP-seq
MIRT997129	hsa-miR-3194-3p	CLIP-seq
MIRT997130	hsa-miR-324-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997133	hsa-miR-3678-3p	CLIP-seq
MIRT1995683	hsa-miR-376c	CLIP-seq
MIRT997135	hsa-miR-3944-5p	CLIP-seq
MIRT1995684	hsa-miR-4259	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT1995685	hsa-miR-4300	CLIP-seq
MIRT1995686	hsa-miR-4323	CLIP-seq
MIRT997138	hsa-miR-4419a	CLIP-seq
MIRT997139	hsa-miR-4469	CLIP-seq
MIRT997141	hsa-miR-4510	CLIP-seq
MIRT997142	hsa-miR-4530	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997144	hsa-miR-4667-3p	CLIP-seq
MIRT1995687	hsa-miR-4690-3p	CLIP-seq
MIRT1995688	hsa-miR-4715-5p	CLIP-seq
MIRT997145	hsa-miR-4728-5p	CLIP-seq
MIRT997146	hsa-miR-4739	CLIP-seq
MIRT1995689	hsa-miR-4756-3p	CLIP-seq
MIRT997147	hsa-miR-4756-5p	CLIP-seq
MIRT1995690	hsa-miR-4757-5p	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997149	hsa-miR-532-3p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT1995691	hsa-miR-920	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq
MIRT1995692	hsa-miR-939	CLIP-seq
MIRT997155	hsa-miR-943	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT2681009	hsa-miR-1910	CLIP-seq
MIRT2681010	hsa-miR-214	CLIP-seq
MIRT2681011	hsa-miR-3619-5p	CLIP-seq
MIRT2681012	hsa-miR-4252	CLIP-seq
MIRT2681013	hsa-miR-4291	CLIP-seq
MIRT2681014	hsa-miR-455-3p	CLIP-seq
MIRT2681015	hsa-miR-761	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IBA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005528	Function	FK506 binding	IEA
GO:0005528	Function	FK506 binding	ISS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	28774593
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006457	Process	Protein folding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042060	Process	Wound healing	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA

MIM	HGNC	e!Ensembl
607063	18169	ENSG00000141756

Q96AY3

Protein name

Peptidyl-prolyl cis-trans isomerase FKBP10 (PPIase FKBP10) (EC 5.2.1.8) (65 kDa FK506-binding protein) (65 kDa FKBP) (FKBP-65) (FK506-binding protein 10) (FKBP-10) (Immunophilin FKBP65) (Rotamase)

Protein function

PPIases accelerate the folding of proteins during protein synthesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	55 → 147	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF00254	FKBP_C	167 → 259	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF00254	FKBP_C	279 → 371	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF00254	FKBP_C	392 → 483	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF13202	EF-hand_5	503 → 526	EF hand	Domain
PF13202	EF-hand_5	547 → 569	EF hand	Domain

Sequence

MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDVVIERYHIPRACPREVQ
MGDFVRYHYNGTFEDGKKFDSSYDRNTLVAIVVGVGRLITGMDRGLMGMCVNERRRLIVP
PHLGYGSIGLAGLIPPDATLYFDVVLLDVWNKEDTVQVSTLLRPPHCPRMVQDGDFVRYH
YNGTLLDGTSFDTSYSKGGTYDTYVGSGWLIKGMDQGLLGMCPGERRKIIIPPFLAYGEK
GYGTVIPPQASLVFHVLLIDVHNPKDAVQLETLELPPGCVRRAGAGDFMRYHYNGSLMDG
TLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGACMGERRRITIPPHLAYGENGTGDKIPG
SAVLIFNVHVIDFHNPADVVEIRTLSRPSETCNETTKLGDFVRYHYNCSLLDGTQLFTSH
DYGAPQEATLGANKVIEGLDTGLQGMCVGERRQLIVPPHLAHGESGARGVPGSAVLLFEV
ELVSREDGLPTGYLFVWHKDPPANLFEDMDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPG
QDPEKTIGDMFQNQDRNQDGKITVDELKLKSDEDEERVHEEL

Sequence length

582

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
Abnormality of the skeletal system	Pathogenic	rs137853883	RCV001814173	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruck syndrome	Pathogenic	rs141847881	RCV001260285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruck syndrome 1	Likely pathogenic; Pathogenic	rs782682320, rs2144041758, rs2144041488, rs869320752, rs2144069621, rs1567856056, rs2544434003, rs137853884, rs387906960, rs1555616552, rs137853883, rs397509383, rs397514674, rs1567855132	RCV005017026 RCV002244230 RCV002250878 RCV000190460 RCV004798056 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FKBP10-related disorder	Pathogenic	rs137853884	RCV003964811	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs797044559, rs368957257, rs869320752, rs387906960, rs1555616552, rs137853883, rs397514674	RCV004798795 RCV005406590 RCV003993877 RCV002281717 RCV005055522 RCV004798839 RCV004579534 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 11	Likely pathogenic; Pathogenic	rs2144052934, rs782271121, rs782682320, rs869025223, rs1555616685, rs2544434003, rs2544446785, rs1567856056, rs1555616552, rs137853883, rs397514674, rs1567855132, rs1597902342, rs1374482728, rs1597905563, rs2047862318 View all (1 more)	RCV001526492 RCV004771514 RCV005017026 RCV000208538 RCV003340954 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 12	Pathogenic	rs137853882, rs2544422008, rs137853883, rs372896892, rs397509383, rs387907325	RCV000003710 RCV000023607 RCV000003711 RCV000033069 RCV000034359 RCV000034825 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type III	Likely pathogenic	rs1597906442, rs1597908085, rs1597907877	RCV000860015 RCV000860014 RCV000860009	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS-LIKE SYNDROME	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 4	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta, Recessive	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XI	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XII	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	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
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (88)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	10077670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	23712425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	23712425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37201304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruck syndrome	Bruck Syndrome	BEFREE	20839288, 21567934, 22085994, 22107750, 22689593, 23613367, 23712425, 25931047, 27146342, 27298363, 28206698, 28378777, 29177700, 29499418, 29512769		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruck syndrome	Bruck Syndrome	ORPHANET_DG	22085994, 22689593, 22949511		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruck syndrome	Bruck Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruck syndrome 1	Bruck Syndrome	GENOMICS_ENGLAND_DG	20696291		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 1	Bruck Syndrome	UNIPROT_DG	20839288, 22949511		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 1	Bruck syndrome	Pubtator	20839288, 22107750, 22949511, 23712425, 25238597, 27146342, 27298363, 37422836, 39769143	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 1	Bruck Syndrome	ORPHANET_DG	22085994, 22689593, 22949511		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 1	Bruck Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 1	Bruck Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck Syndrome	ORPHANET_DG	22085994, 22689593, 22949511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25533479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34388114, 36463181, 38233415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23354471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33985413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21399973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35233964, 35395711, 37511172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	20839288, 22107750, 22689593, 23712425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	28378777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	20839288, 22949511, 23712425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27602571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	22107750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis imperfecta	Pubtator	22107750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	33535173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 1	Epiphyseal dysplasia	Pubtator	24272907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	23434032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33557829, 34512630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	39684755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38233415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29673351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kuskokwim disease	Kuskokwim Syndrome	ORPHANET_DG	23712425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kuskokwim syndrome	Kuskokwim Syndrome	BEFREE	23712425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kuskokwim syndrome	Kuskokwim Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25533479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31233188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23354471, 27298363, 28378777, 31233188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36915111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	20362275, 20696291, 20839288, 21567934, 22107750, 22949511, 25931047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21399973, 23354471, 25533479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	20188343, 20839288, 21829228, 22061863, 22107750, 22718341, 23712425, 25510505, 25742658, 27146342, 27706701, 29801479, 36655627	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	20362275, 20839288, 21567925, 21567934, 21667357, 22061863, 22107750, 22689593, 22949511, 23712425, 25007323, 25510505, 26538303, 27706701, 27762305, 28206698, 29512769, 29801479 View all (3 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	22107750	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 4	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135, 25046257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	22085994, 22107750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	22107750, 35550181	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135, 25046257		★★★★★ ★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XI	Osteogenesis Imperfecta	BEFREE	22718341, 27762305, 29801479		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XI	Osteogenesis Imperfecta	CLINVAR_DG	27362741		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XI	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XI	Osteogenesis Imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XII	Osteogenesis Imperfecta	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28487939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	21399973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	21399973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	21399973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21399973	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	23354471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31830361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36750863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	37422836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33535173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16333983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27602571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	36655627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31233188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	29148176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31233188, 31868996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

FKBP10 (FKBP prolyl isomerase 10)