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	9786
Gene name	KIAA0586
Gene symbol	KIAA0586
Synonyms (NCBI Gene)	JBTS23SRTD14Talpid3
Chromosome	14
Chromosome location	14q23.1
Summary	This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [pro

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140026883	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs143158234	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201097695	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs372841738	A>C	Likely-pathogenic	Intron variant
rs534542684	G>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs540255320	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs757350052	G>C	Pathogenic	Splice acceptor variant, missense variant, coding sequence variant
rs762081862	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs770566897	AA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs772739103	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs780520735	C>G,T	Pathogenic	Coding sequence variant, synonymous variant
rs796052128	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052129	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs863225203	TATCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs867342730	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs869312856	AGCT>GA	Pathogenic	Coding sequence variant, frameshift variant
rs886039806	T>A,C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039809	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs985118235	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057516038	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1064793157	C>T	Pathogenic	Coding sequence variant, stop gained
rs1203751352	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1331480187	T>C	Likely-pathogenic	Splice donor variant
rs1410766981	TGTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555378721	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566827747	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1566883760	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1566903524	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1595428826	T>G	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036916	hsa-miR-877-3p	CLASH	23622248
MIRT643705	hsa-miR-4463	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643704	hsa-miR-6890-5p	HITS-CLIP	23824327
MIRT643703	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT643702	hsa-miR-4494	HITS-CLIP	23824327
MIRT643701	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT643700	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT643699	hsa-miR-1273f	HITS-CLIP	23824327
MIRT643698	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT643697	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643695	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT643694	hsa-miR-548s	HITS-CLIP	23824327
MIRT643693	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT643692	hsa-miR-588	HITS-CLIP	23824327
MIRT643691	hsa-miR-4435	HITS-CLIP	23824327
MIRT643690	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT643689	hsa-miR-3170	HITS-CLIP	23824327
MIRT643688	hsa-miR-6855-5p	HITS-CLIP	23824327
MIRT643687	hsa-miR-5096	HITS-CLIP	23824327
MIRT643705	hsa-miR-4463	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643704	hsa-miR-6890-5p	HITS-CLIP	23824327
MIRT643703	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT643702	hsa-miR-4494	HITS-CLIP	23824327
MIRT643701	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT643700	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT643699	hsa-miR-1273f	HITS-CLIP	23824327
MIRT643698	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT643697	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643695	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT643694	hsa-miR-548s	HITS-CLIP	23824327
MIRT643693	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT643692	hsa-miR-588	HITS-CLIP	23824327
MIRT643691	hsa-miR-4435	HITS-CLIP	23824327
MIRT643690	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT643689	hsa-miR-3170	HITS-CLIP	23824327
MIRT643688	hsa-miR-6855-5p	HITS-CLIP	23824327
MIRT643687	hsa-miR-5096	HITS-CLIP	23824327
MIRT1087821	hsa-miR-3140-3p	CLIP-seq
MIRT1087822	hsa-miR-3673	CLIP-seq
MIRT1087823	hsa-miR-369-3p	CLIP-seq
MIRT1087824	hsa-miR-374a	CLIP-seq
MIRT1087825	hsa-miR-374b	CLIP-seq
MIRT1087826	hsa-miR-410	CLIP-seq
MIRT1087827	hsa-miR-4699-3p	CLIP-seq
MIRT1087824	hsa-miR-374a	CLIP-seq
MIRT1087825	hsa-miR-374b	CLIP-seq
MIRT1087824	hsa-miR-374a	CLIP-seq
MIRT1087825	hsa-miR-374b	CLIP-seq
MIRT2254133	hsa-miR-4286	CLIP-seq
MIRT2254134	hsa-miR-4452	CLIP-seq
MIRT2254135	hsa-miR-4691-5p	CLIP-seq
MIRT2254136	hsa-miR-548aa	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	24421332
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19144723, 21399614, 24421332
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	24421332
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IMP	24421332
GO:0060271	Process	Cilium assembly	ISS
GO:0070201	Process	Regulation of establishment of protein localization	IMP	24421332

MIM	HGNC	e!Ensembl
610178	19960	ENSG00000100578

Q9BVV6

Protein name

Protein TALPID3

Protein function

Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disa

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15324	TALPID3	101 → 1342	Hedgehog signalling target	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:26386044). Expressed in photoreceptor cells (at protein level) (PubMed:26386247). {ECO:0000269|PubMed:26386044, ECO:0000269|PubMed:26386247}.

Sequence

MPVKRLREVVSQNHGDHLVLLKDELPCVPPALSANKRLPVGTGTSLNGTSRGSSDLTSAR
NCYQPLLENPMVSESDFSKDVAVQVLPLDKIEENNKQKANDIFISQYTMGQKDALRTVLK
QKAQSMPVFKEVKVHLLEDAGIEKDAVTQETRISPSGIDSATTVAAATAAAIATAAPLIK
VQSDLEAKVNSVTELLSKLQETDKHLQRVTEQQTSIQRKQEKLHCHDHEKQMNVFMEQHI
RHLEKLQQQQIDIQTHFISAALKTSSFQPVSMPSSRAVEKYSVKPEHPNLGSCNPSLYNT
FASKQAPLKEVEDTSFDKQKSPLETPAPRRFAPVPVSRDDELSKRENLLEEKENMEVSCH
RGNVRLLEQILNNNDSLTRKSESSNTTSLTRSKIGWTPEKTNRFPSCEELETTKVTMQKS
DDVLHDLGQKEKETNSMVQPKESLSMLKLPDLPQNSVKLQTTNTTRSVLKDAEKILRGVQ
NNKKVLEENLEAIIRAKDGAAMYSLINALSTNREMSEKIRIRKTVDEWIKTISAEIQDEL
SRTDYEQKRFDQKNQRTKKGQNMTKDIRTNTQDKTVNKSVIPRKHSQKQIEEHFRNLPMR
GMPASSLQKERKEGLLKATTVIQDEDYMLQVYGKPVYQGHRSTLKKGPYLRFNSPSPKSR
PQRPKVIERVKGTKVKSIRTQTDFYATKPKKMDSKMKHSVPVLPHGDQQYLFSPSREMPT
FSGTLEGHLIPMAILLGQTQSNSDTMPPAGVIVSKPHPVTVTTSIPPSSRKVETGVKKPN
IAIVEMKSEKKDPPQLTVQVLPSVDIDSISNSSADVLSPLSSPKEASLPPVQTWIKTPEI
MKVDEEEVKFPGTNFDEIIDVIQEEEKCDEIPDSEPILEFNRSVKADSTKYNGPPFPPVA
STFQPTADILDKVIERKETLENSLIQWVEQEIMSRIISGLFPVQQQIAPSISVSVSETSE
PLTSDIVEGTSSGALQLFVDAGVPVNSNVIKHFVNEALAETIAVMLGDREAKKQGPVATG
VSGDASTNETYLPARVCTPLPTPQPTPPCSPSSPAKECVLVKTPDSSPCDSDHDMAFPVK
EICAEKGDDMPAIMLVNTPTVTPTTTPPPAAAVFTPTLSDISIDKLKVSSPELPKPWGDG
DLPLEEENPNSPQEELHPRAIVMSVAKDEEPESMDFPAQPPPPEPVPFMPFPAGTKAPSP
SQMPGSDSSTLESTLSVTVTETETLDKPISEGEILFSCGQKLAPKILEDIGLYLTNLNDS
LSSTLHDAVEMEDDPPSEGQVIRMSHKKFHADAILSFAKQNQESAVSQQAVYHSEDLENS
VGELSEGQRPQLTAAAENILMGHSLYMQPPVTNTQSLDQQCDPKPLSRQFDTVSGSIYED
SCASHGPMSLGELELEPNSKLVLPTTLLTAQENDVNLPVAAEDFSQYQLKQNQDVKQVEH
KPSQSYLRVRNKSDIAPSQQQVSPGDMDRTQIELNPYLTCVFSGGKAVPLSASQMPPAKM
SVMLPSVNLEDCSQSLSLSTMQEDMESSGADTF

Sequence length

1533

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 (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliopathy	Likely pathogenic	rs753649082	RCV006249746	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs763815640	RCV005925509	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs534542684, rs770566897	RCV001003979 RCV001003980	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs534542684, rs770566897	RCV001003979 RCV001003980	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Likely pathogenic	rs1566883760	RCV000754956	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs534542684, rs1174594143	RCV000612898 RCV004018288	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 23	Likely pathogenic; Pathogenic	rs753649082, rs2140706563, rs2140844892, rs2140873534, rs2140886312, rs2140128017, rs1307758243, rs745949846, rs2040191088, rs762932867, rs2140886548, rs2140873364, rs2140098022, rs2141202895, rs982449380 View all (104 more)	RCV004820876 RCV001386576 RCV001380198 RCV001384838 RCV001382168 View all (115 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs749475936, rs2543334612, rs534542684, rs886039809, rs555421894, rs901508284	RCV003492698 RCV002308623 RCV001193558 RCV000256462 RCV003403202 RCV003479279 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KIAA0586- Related disorders	Likely pathogenic; Pathogenic	rs534542684	RCV005250030	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KIAA0586-related disorder	Likely pathogenic; Pathogenic	rs534542684, rs796052128, rs2140763302, rs2543152585, rs555421894	RCV003401022 RCV003401023 RCV003394418 RCV003412379 RCV003403203	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Likely pathogenic	rs886039806	RCV000256428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs770566897, rs555421894	RCV001778778 RCV001778987	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs745949846	RCV005623093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs534542684, rs555421894	RCV001073225 RCV001074911	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs534542684, rs770566897	RCV001003979 RCV001003980	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic; Pathogenic	rs753649082, rs2140706563, rs2140844892, rs2140873534, rs2140886312, rs2140128017, rs1307758243, rs745949846, rs2040191088, rs762932867, rs2140098022, rs2141202895, rs982449380, rs1253807820, rs2140128191 View all (88 more)	RCV001333030 RCV001386576 RCV001380198 RCV001384838 RCV001382168 View all (99 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (34)

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.
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	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
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, 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
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely 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 WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ 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 lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ 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 (99)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	37131188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	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
Cerebellar Diseases	Cerebellar diseases	Pubtator	36538006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24743779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24743779, 26166481, 26386044, 26386247, 30258116, 30988386, 31326647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	26166481, 32080096, 36635699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35487942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	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 diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31326647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	26026149, 26096313, 26386044, 26386247, 29396404, 30924151, 31326647		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	26026149, 26096313, 26386247, 26437029		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	26096313		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	26096313		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	30924151		★★★★★ ★☆☆☆☆ 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
Hydrolethalus syndrome	Hydrolethalus syndrome	Pubtator	26166481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	26386044		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	26096313		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 17	Joubert Syndrome	GENOMICS_ENGLAND_DG	26437029		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 23	Joubert Syndrome	UNIPROT_DG	26026149, 26096313, 26386044, 26386247, 26429889		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 23	Joubert Syndrome	CLINVAR_DG	26026149, 26096313, 26166481, 26386044, 26386247, 26437029, 26938784, 28497568		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 23	Joubert Syndrome	GENOMICS_ENGLAND_DG	26096313		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 23	Joubert Syndrome	BEFREE	26386247		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 4	Joubert syndrome	Pubtator	37131188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	ORPHANET_DG	26386044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	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
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	32080096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CTD_human_DG	15554946		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	26096313		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	BEFREE	26166481		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	Pubtator	26166481, 36538006	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	30924151		★★★★★ ★☆☆☆☆ 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 Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	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
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	BEFREE	26166481, 26386044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	CLINVAR_DG	26026149, 26096313, 26166481, 26386044, 26386247, 26437029, 28497568		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	GENOMICS_ENGLAND_DG	26096313, 26166481		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Incontinence Stress	Stress urinary incontinence	Pubtator	27193112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KIAA0586 (KIAA0586)