KIAA0753 (KIAA0753)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 9851
• Gene name: KIAA0753
• Gene symbol: KIAA0753
• Synonyms (NCBI Gene): JBTS38, MNR, OFIP, SRTD21
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert

SNPs Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370840009	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs746068882	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs749044639	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs752659088	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs762771340	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs770256450	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs774799042	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs780010794	A>G,T	Pathogenic	Stop gained, non coding transcript variant, intron variant, synonymous variant, coding sequence variant
rs886038200	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886038201	G>T	Pathogenic	Intron variant
rs1555531363	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1087969	hsa-miR-1825	CLIP-seq
MIRT1087970	hsa-miR-188-5p	CLIP-seq
MIRT1087971	hsa-miR-199a-5p	CLIP-seq
MIRT1087972	hsa-miR-199b-5p	CLIP-seq
MIRT1087973	hsa-miR-3925-3p	CLIP-seq
MIRT1087974	hsa-miR-4302	CLIP-seq
MIRT1087975	hsa-miR-4504	CLIP-seq
MIRT1087976	hsa-miR-4719	CLIP-seq
MIRT1087977	hsa-miR-4724-3p	CLIP-seq
MIRT1087978	hsa-miR-515-5p	CLIP-seq
MIRT1087979	hsa-miR-542-3p	CLIP-seq
MIRT1087980	hsa-miR-642b	CLIP-seq
MIRT1087981	hsa-miR-766	CLIP-seq
MIRT1921230	hsa-miR-326	CLIP-seq
MIRT1921231	hsa-miR-330-5p	CLIP-seq
MIRT1921232	hsa-miR-4659a-3p	CLIP-seq
MIRT1921233	hsa-miR-4659b-3p	CLIP-seq
MIRT1921234	hsa-miR-4667-5p	CLIP-seq
MIRT1921235	hsa-miR-4700-5p	CLIP-seq
MIRT1921236	hsa-miR-4768-5p	CLIP-seq
MIRT1921237	hsa-miR-637	CLIP-seq
MIRT2023313	hsa-miR-34a	CLIP-seq
MIRT2023314	hsa-miR-34c-5p	CLIP-seq
MIRT2023315	hsa-miR-3660	CLIP-seq
MIRT2023316	hsa-miR-3677-5p	CLIP-seq
MIRT2023317	hsa-miR-3919	CLIP-seq
MIRT2023318	hsa-miR-4257	CLIP-seq
MIRT2023319	hsa-miR-4427	CLIP-seq
MIRT2023320	hsa-miR-449a	CLIP-seq
MIRT2023321	hsa-miR-449b	CLIP-seq
MIRT2023322	hsa-miR-4526	CLIP-seq
MIRT2023323	hsa-miR-4645-5p	CLIP-seq
MIRT2023324	hsa-miR-4673	CLIP-seq
MIRT2023325	hsa-miR-4680-3p	CLIP-seq
MIRT2023326	hsa-miR-520a-5p	CLIP-seq
MIRT2023327	hsa-miR-521	CLIP-seq
MIRT2023328	hsa-miR-525-5p	CLIP-seq
MIRT2023329	hsa-miR-561	CLIP-seq
MIRT2023323	hsa-miR-4645-5p	CLIP-seq
MIRT2023324	hsa-miR-4673	CLIP-seq
MIRT2452420	hsa-miR-3622a-3p	CLIP-seq
MIRT2452421	hsa-miR-3622b-3p	CLIP-seq
MIRT2452422	hsa-miR-578	CLIP-seq
MIRT2452423	hsa-miR-643	CLIP-seq
MIRT2452420	hsa-miR-3622a-3p	CLIP-seq
MIRT2452421	hsa-miR-3622b-3p	CLIP-seq
MIRT2452422	hsa-miR-578	CLIP-seq
MIRT2452423	hsa-miR-643	CLIP-seq
MIRT2556582	hsa-miR-103a	CLIP-seq
MIRT2556583	hsa-miR-107	CLIP-seq
MIRT2556584	hsa-miR-1184	CLIP-seq
MIRT2556585	hsa-miR-125a-5p	CLIP-seq
MIRT2556586	hsa-miR-125b	CLIP-seq
MIRT2556587	hsa-miR-1271	CLIP-seq
MIRT2556588	hsa-miR-1296	CLIP-seq
MIRT2556589	hsa-miR-139-5p	CLIP-seq
MIRT2556590	hsa-miR-182	CLIP-seq
MIRT2556591	hsa-miR-2277-3p	CLIP-seq
MIRT2556592	hsa-miR-2467-3p	CLIP-seq
MIRT2556593	hsa-miR-296-5p	CLIP-seq
MIRT2556594	hsa-miR-3150b-3p	CLIP-seq
MIRT2556595	hsa-miR-325	CLIP-seq
MIRT2556596	hsa-miR-3618	CLIP-seq
MIRT2556597	hsa-miR-3649	CLIP-seq
MIRT2023315	hsa-miR-3660	CLIP-seq
MIRT2556598	hsa-miR-3667-3p	CLIP-seq
MIRT2556599	hsa-miR-3673	CLIP-seq
MIRT2023318	hsa-miR-4257	CLIP-seq
MIRT2556600	hsa-miR-4276	CLIP-seq
MIRT2556601	hsa-miR-4283	CLIP-seq
MIRT2556602	hsa-miR-4287	CLIP-seq
MIRT2556603	hsa-miR-4297	CLIP-seq
MIRT2556604	hsa-miR-4319	CLIP-seq
MIRT2556605	hsa-miR-4418	CLIP-seq
MIRT2556606	hsa-miR-4464	CLIP-seq
MIRT2556607	hsa-miR-4469	CLIP-seq
MIRT2556608	hsa-miR-4494	CLIP-seq
MIRT2556609	hsa-miR-4512	CLIP-seq
MIRT2023322	hsa-miR-4526	CLIP-seq
MIRT2556610	hsa-miR-4640-5p	CLIP-seq
MIRT2556611	hsa-miR-4685-3p	CLIP-seq
MIRT2556612	hsa-miR-4707-5p	CLIP-seq
MIRT2556613	hsa-miR-4726-5p	CLIP-seq
MIRT2556614	hsa-miR-4732-3p	CLIP-seq
MIRT2556615	hsa-miR-4748	CLIP-seq
MIRT2556616	hsa-miR-4784	CLIP-seq
MIRT2556617	hsa-miR-509-3-5p	CLIP-seq
MIRT2556618	hsa-miR-509-5p	CLIP-seq
MIRT2556619	hsa-miR-548g	CLIP-seq
MIRT2556620	hsa-miR-581	CLIP-seq
MIRT2556621	hsa-miR-627	CLIP-seq
MIRT2556622	hsa-miR-670	CLIP-seq
MIRT2556623	hsa-miR-885-3p	CLIP-seq
MIRT2556624	hsa-miR-922	CLIP-seq
MIRT2556625	hsa-miR-924	CLIP-seq
MIRT2556626	hsa-miR-96	CLIP-seq
MIRT2556593	hsa-miR-296-5p	CLIP-seq
MIRT2683342	hsa-miR-3064-3p	CLIP-seq
MIRT2556595	hsa-miR-325	CLIP-seq
MIRT2452420	hsa-miR-3622a-3p	CLIP-seq
MIRT2452421	hsa-miR-3622b-3p	CLIP-seq
MIRT2683343	hsa-miR-4661-5p	CLIP-seq
MIRT1087976	hsa-miR-4719	CLIP-seq
MIRT2452422	hsa-miR-578	CLIP-seq
MIRT2452423	hsa-miR-643	CLIP-seq

Gene ontology (GO) Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26297806, 26638075, 26871637, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0007099	Process	Centriole replication	IEA
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	26297806
GO:0034451	Component	Centriolar satellite	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0060271	Process	Cilium assembly	IMP	28220259
GO:0061824	Process	Cytosolic ciliogenesis	IMP	28220259
GO:0071539	Process	Protein localization to centrosome	IBA
GO:0071539	Process	Protein localization to centrosome	IMP	26297806

Other IDs

• MIM: 617112
• HGNC: 29110
• e!Ensembl: ENSG00000198920

Protein

• UniProt ID: Q2KHM9
• Protein name: Protein moonraker (MNR) (OFD1- and FOPNL-interacting protein)
• Protein function: Involved in centriole duplication (PubMed:24613305, PubMed:26297806). Positively regulates CEP63 centrosomal localization (PubMed:24613305, PubMed:26297806). Required for WDR62 centrosomal localization and promotes the centrosomal localization o
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15718	MNR	1 → 962	Protein moonraker	Family

• Sequence:

  MGPGQPASTCVHLAPRTQLDGRSDPKVLQTQNQLQFNRNVPTHSSNLAIRYSCPHAIRIE
  KLKHSYNESYHCKDADCRVGPDLGSSVSFSVISQERLSYAVHLARRDVKRRQFEKHIKEH
  HLRSQPQSSQKCGHTKYKIPDHRVERKESKSQAACQCSHQPSKVEISSSGAKVYLYSSHP
  GQSDLTVPNSPPTHDPGLQPHPRIGDHKNISEQKSLLEVQRLQKELSSCIHKIEEVTKKD
  RLEEALDPDEERRIRIRRQEQAARSARMLYVLQQQVKEIQEELDKLSPHKIKHTKKSWAM
  SKLAAAHRGAIRALQMFVTQFTDRGEHPLPARCKELGSLIRQLSLCSVKLDADPSVPDVV
  IDILQQIEALESLLEKKLSPKKVKKCFSEIRSRFPIGSQKALERWPSTSPKGERRPLTAK
  DTFPQETSRPSVAKQLLADKYQPDTELPETQRLQSELDVLDADIVLEEGPFILDQSASFK
  DEVLAVAKTKAGKKKPVTENVPFRKKDTLAPARQQGLRKAERGRQSQPHSKSRVQQTTVS
  SRLKMNRQPVKDRKAPWIPPNPTSPPASPKCAAWLKVKTSPRDATKEPLQQEDPQEESHL
  TGAVEHEAARLAWLDAETSKRLKELEELKAKEIDSMQKQRLDWLDAETSRRTKELNELKA
  EEMYRLQQLSVSATHLADKVEEAVLDRLKPLLVKAQRVNSTTEANIHLKDGSSVNTAKAQ
  PAQEVAAVDFESNNIRQLDDFLEDCASELWAVTHAKILGSETLATVEDSKDSPDLEIMMR
  RMEEMEKYQESVRQRYNKIAYADPRLWMQEENNDQKISAISEKPLSPHPIRITKTVDRKD
  PAVNIMLERPCNGNSLDESVGTEEGSEKREAPLLSLAEDSQQKEGRAPLFVPPGMQHSIG
  DYCSRFEQYLRIISHEAVGSFNPWLIAESFSEELVDEALGAVAAELQDMCEDYAEAVFTS
  EFLEAAT

• Sequence length: 967

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 Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs746068882, rs1555531363, rs762771340	RCV000590973 RCV000590980 RCV000590971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs746068882, rs1555531363, rs762771340	RCV000590973 RCV000590980 RCV000590971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 38	Pathogenic; Likely pathogenic	rs2150895254, rs1312865574, rs766831438, rs886038200, rs750740421	RCV001559135 RCV001559136 RCV002222942 RCV003225054 RCV003225651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KIAA0753-related disorder	Likely pathogenic; Pathogenic	rs370840009	RCV002280140	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome XV	Likely pathogenic; Pathogenic	rs774903749, rs886038200, rs746068882, rs370840009, rs774799042	RCV005363072 RCV000241533 RCV002248721 RCV001330561 RCV005359732	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short-rib thoracic dysplasia 21 without polydactyly	Pathogenic; Likely pathogenic	rs1970256904, rs774903749, rs746068882, rs1555531363, rs762771340, rs770256450, rs370840009, rs774799042	RCV001559340 RCV005363072 RCV001559335 RCV001559337 RCV001559336 RCV001559338 RCV005357988 RCV005359732	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (17)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	—	★★☆☆☆ 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
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	28220259	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE SYNDROME	—	Orphanet Orphanet	29138412, 31816441	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	29924316	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 6	—	Orphanet Orphanet	26643951, 26643951	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (49)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	31816441		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	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
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	34711653	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	29138412, 33875766, 34523780	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29138412		★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32207560	Associate	★☆☆☆☆ 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 Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	26643951, 28220259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	28125082, 28220259, 31816441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	29138412		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	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
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	28220259		★☆☆☆☆ Found in Text Mining only
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG	29138412		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	31816441		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31502023		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	26643951		★☆☆☆☆ 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	26643951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	BEFREE	31816441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XV	Orofaciodigital Syndrome	GENOMICS_ENGLAND_DG	26643951, 28220259		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OROFACIODIGITAL SYNDROME XV	Orofaciodigital Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	26643951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	29138412	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	29138412		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	29138412		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	34711653	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	29138412		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	28220259		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KIAA0586 12 shared diseasesJeune syndrome, Lissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Jeune thoracic dystrophy, Macrogyria, Microgyria, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia 17 shared evidence sourcesDisgenet (Jeune syndrome), Disgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Jeune thoracic dystrophy), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria) +5 more Related via 12 shared diseases including Jeune syndrome, Lissencephaly — evidence mostly Disgenet. FAM149B1 9 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria, Orofaciodigital syndrome 12 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria), Disgenet (Orofaciodigital syndrome), Orphanet (Orofaciodigital syndrome) Related via 9 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. TMEM218 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 11 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. TOGARAM1 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 11 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. B9D2 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 9 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Orphanet (Joubert syndrome), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KIAA0586	12	["Jeune syndrome","Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Jeune thoracic dystrophy","Macrogyria","Microgyria","Short rib dysplasia-polydactyly syndrome","Short-rib thoracic dysplasia"]	0	[]	17	["Disgenet (Jeune syndrome)","Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Jeune thoracic dystrophy)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)"]
FAM149B1	9	["Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Microgyria","Orofaciodigital syndrome"]	0	[]	12	["Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Microgyria)","Disgenet (Orofaciodigital syndrome)","Orphanet (Orofaciodigital syndrome)"]
TMEM218	8	["Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Microgyria"]	0	[]	11	["Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Microgyria)"]
TOGARAM1	8	["Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Microgyria"]	0	[]	11	["Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Microgyria)"]
B9D2	8	["Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Microgyria"]	0	[]	9	["Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Microgyria)"]

Diseases Linked via Similar Genes

Meckel-gruber syndrome Linked via 3 of 5 related genesKIAA0586, TMEM218, B9D2 Ciliopathy Linked via 3 of 5 related genesTMEM218, TOGARAM1, B9D2 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Linked via 1 of 5 related genesKIAA0586 Craniofacial abnormalities Linked via 1 of 5 related genesKIAA0586 Intellectual developmental disorder Linked via 1 of 5 related genesKIAA0586

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Meckel-gruber syndrome	3	["KIAA0586","TMEM218","B9D2"]
Ciliopathy	3	["TMEM218","TOGARAM1","B9D2"]
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	1	["KIAA0586"]
Craniofacial abnormalities	1	["KIAA0586"]
Intellectual developmental disorder	1	["KIAA0586"]