Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	200894
Gene name	ARF like GTPase 13B
Gene symbol	ARL13B
Synonyms (NCBI Gene)	ARL2L1JBTS8
Chromosome	3
Chromosome location	3q11.1-q11.2
Summary	This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia f

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912606	G>A	Pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs121912607	G>A	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs121912608	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139997243	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs373604132	G>C,T	Pathogenic	Intron variant, splice acceptor variant
rs758972393	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs764109067	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205563	T>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs863225149	T>G	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs863225430	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs1560002959	ACAA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

133

Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020451	hsa-miR-106b-5p	Microarray	17242205
MIRT021785	hsa-miR-132-3p	Microarray	17612493
MIRT308605	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT549787	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT308604	hsa-miR-1266-3p	PAR-CLIP	21572407
MIRT549786	hsa-miR-1206	PAR-CLIP	21572407
MIRT549784	hsa-miR-8068	PAR-CLIP	21572407
MIRT549785	hsa-miR-6516-3p	PAR-CLIP	21572407
MIRT549783	hsa-miR-568	PAR-CLIP	21572407
MIRT549782	hsa-miR-3149	PAR-CLIP	21572407
MIRT525887	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT525886	hsa-miR-548ab	PAR-CLIP	22012620
MIRT525885	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT525884	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT525883	hsa-miR-548ak	PAR-CLIP	22012620
MIRT525882	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT525881	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT525880	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT525879	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT525878	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT525877	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT525876	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT525875	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT525874	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT525873	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT525872	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT525871	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT525870	hsa-miR-548i	PAR-CLIP	22012620
MIRT525869	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT525868	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT525867	hsa-miR-548w	PAR-CLIP	22012620
MIRT525866	hsa-miR-548y	PAR-CLIP	22012620
MIRT525865	hsa-miR-559	PAR-CLIP	22012620
MIRT525864	hsa-miR-548av-5p	PAR-CLIP	22012620
MIRT525863	hsa-miR-548k	PAR-CLIP	22012620
MIRT525862	hsa-miR-8054	PAR-CLIP	22012620
MIRT525861	hsa-miR-5692a	PAR-CLIP	22012620
MIRT355773	hsa-miR-944	PAR-CLIP	22012620
MIRT525860	hsa-miR-7849-3p	PAR-CLIP	22012620
MIRT525859	hsa-miR-4502	PAR-CLIP	22012620
MIRT525858	hsa-miR-548ao-5p	PAR-CLIP	22012620
MIRT525857	hsa-miR-548ax	PAR-CLIP	22012620
MIRT525856	hsa-miR-5585-5p	PAR-CLIP	22012620
MIRT308605	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT549787	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT308604	hsa-miR-1266-3p	PAR-CLIP	21572407
MIRT549786	hsa-miR-1206	PAR-CLIP	21572407
MIRT549784	hsa-miR-8068	PAR-CLIP	21572407
MIRT549785	hsa-miR-6516-3p	PAR-CLIP	21572407
MIRT549783	hsa-miR-568	PAR-CLIP	21572407
MIRT549782	hsa-miR-3149	PAR-CLIP	21572407
MIRT525887	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT525886	hsa-miR-548ab	PAR-CLIP	22012620
MIRT525885	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT525884	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT525883	hsa-miR-548ak	PAR-CLIP	22012620
MIRT525882	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT525881	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT525880	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT525879	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT525878	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT525877	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT525876	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT525875	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT525874	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT525873	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT525872	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT525871	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT525870	hsa-miR-548i	PAR-CLIP	22012620
MIRT525869	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT525868	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT525867	hsa-miR-548w	PAR-CLIP	22012620
MIRT525866	hsa-miR-548y	PAR-CLIP	22012620
MIRT525865	hsa-miR-559	PAR-CLIP	22012620
MIRT525864	hsa-miR-548av-5p	PAR-CLIP	22012620
MIRT525863	hsa-miR-548k	PAR-CLIP	22012620
MIRT525862	hsa-miR-8054	PAR-CLIP	22012620
MIRT525861	hsa-miR-5692a	PAR-CLIP	22012620
MIRT355773	hsa-miR-944	PAR-CLIP	22012620
MIRT525860	hsa-miR-7849-3p	PAR-CLIP	22012620
MIRT525859	hsa-miR-4502	PAR-CLIP	22012620
MIRT525858	hsa-miR-548ao-5p	PAR-CLIP	22012620
MIRT525857	hsa-miR-548ax	PAR-CLIP	22012620
MIRT525856	hsa-miR-5585-5p	PAR-CLIP	22012620
MIRT797521	hsa-miR-125a-3p	CLIP-seq
MIRT797522	hsa-miR-150	CLIP-seq
MIRT797523	hsa-miR-223	CLIP-seq
MIRT797524	hsa-miR-29a	CLIP-seq
MIRT797525	hsa-miR-29b	CLIP-seq
MIRT797526	hsa-miR-29c	CLIP-seq
MIRT797527	hsa-miR-3163	CLIP-seq
MIRT797528	hsa-miR-3661	CLIP-seq
MIRT797529	hsa-miR-3920	CLIP-seq
MIRT797530	hsa-miR-4697-3p	CLIP-seq
MIRT797531	hsa-miR-4761-5p	CLIP-seq
MIRT797532	hsa-miR-4799-5p	CLIP-seq
MIRT797533	hsa-miR-548ac	CLIP-seq
MIRT797534	hsa-miR-548ae	CLIP-seq
MIRT797535	hsa-miR-548aj	CLIP-seq
MIRT797536	hsa-miR-548am	CLIP-seq
MIRT797537	hsa-miR-548c-3p	CLIP-seq
MIRT797538	hsa-miR-548d-3p	CLIP-seq
MIRT797539	hsa-miR-548h	CLIP-seq
MIRT797540	hsa-miR-548j	CLIP-seq
MIRT797541	hsa-miR-548l	CLIP-seq
MIRT797542	hsa-miR-548x	CLIP-seq
MIRT797543	hsa-miR-548z	CLIP-seq
MIRT797544	hsa-miR-552	CLIP-seq
MIRT797545	hsa-miR-577	CLIP-seq
MIRT797546	hsa-miR-592	CLIP-seq
MIRT797547	hsa-miR-597	CLIP-seq
MIRT797548	hsa-miR-624	CLIP-seq
MIRT797549	hsa-miR-631	CLIP-seq
MIRT797550	hsa-miR-656	CLIP-seq
MIRT1935536	hsa-miR-3180-5p	CLIP-seq
MIRT2384472	hsa-miR-1278	CLIP-seq
MIRT2384473	hsa-miR-1305	CLIP-seq
MIRT2384474	hsa-miR-1911	CLIP-seq
MIRT2384475	hsa-miR-452	CLIP-seq
MIRT2384476	hsa-miR-4676-3p	CLIP-seq
MIRT2384477	hsa-miR-607	CLIP-seq
MIRT2478861	hsa-miR-1290	CLIP-seq
MIRT2478862	hsa-miR-3167	CLIP-seq
MIRT2478863	hsa-miR-3662	CLIP-seq
MIRT2478864	hsa-miR-520d-5p	CLIP-seq
MIRT2478865	hsa-miR-524-5p	CLIP-seq
MIRT2478866	hsa-miR-876-5p	CLIP-seq
MIRT2478861	hsa-miR-1290	CLIP-seq
MIRT2478862	hsa-miR-3167	CLIP-seq
MIRT2478863	hsa-miR-3662	CLIP-seq
MIRT2478864	hsa-miR-520d-5p	CLIP-seq
MIRT2478865	hsa-miR-524-5p	CLIP-seq
MIRT2478866	hsa-miR-876-5p	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001947	Process	Heart looping	IEA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	20643351, 32296183, 32541000
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	24421332, 27623382
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0021532	Process	Neural tube patterning	IEA
GO:0021532	Process	Neural tube patterning	ISS
GO:0021830	Process	Interneuron migration from the subpallium to the cortex	IEA
GO:0021830	Process	Interneuron migration from the subpallium to the cortex	ISS
GO:0021943	Process	Formation of radial glial scaffolds	IEA
GO:0021943	Process	Formation of radial glial scaffolds	ISS
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0060170	Component	Ciliary membrane	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0070986	Process	Left/right axis specification	IEA
GO:0097500	Process	Receptor localization to non-motile cilium	IBA
GO:0097730	Component	Non-motile cilium	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	ISS

MIM	HGNC	e!Ensembl
608922	25419	ENSG00000169379

Q3SXY8

Protein name

ADP-ribosylation factor-like protein 13B (ADP-ribosylation factor-like protein 2-like 1) (ARL2-like protein 1)

Protein function

Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze fit; the GTPase activity remains unclea

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00025	Arf	9 → 190	ADP-ribosylation factor family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the developing brain. {ECO:0000269|PubMed:25138100}.

Sequence

MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINL
RQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRI
SGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIK
KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIET
QGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVE
PLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPN
SDAHDVIS

Sequence length

428

Interactions

View interactions

	Reactome
			ARL13B-mediated ciliary trafficking of INPP5E Aggrephagy

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome	Likely pathogenic; Pathogenic	rs1560002959	RCV001449798	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 8	Likely pathogenic; Pathogenic	rs761785586, rs2107152691, rs2107111639, rs1362774896, rs760756412, rs750642821, rs121912606, rs121912607, rs121912608, rs1180104221, rs1378981995, rs752472169, rs767905644, rs2107192097, rs863225149 View all (5 more)	RCV001379589 RCV001390180 RCV001877012 RCV001978984 RCV001952265 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs121912608, rs2076888595, rs2471955328, rs1378981995, rs1710156502, rs2472122003, rs764109067, rs752472169	RCV003330381 RCV002302599 RCV002308659 RCV005239712 RCV003155668 RCV003226613 RCV000256476 RCV001805846 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARL13B-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrocephalopolysyndactyly type 2	Carpenter syndrome	BEFREE	31465935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29378965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alkaptonuria	Alkaptonuria	BEFREE	28158906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alkaptonuria	Alkaptonuria	Pubtator	28158906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31569511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37830570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29378965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	35488810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25138100, 25448689, 27153923, 31465935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_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
Cystic kidney	Cystic Kidney Disease	BEFREE	27153923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	18674751, 19906870, 23023437, 23153492, 23817546, 24168557, 24339792, 24360808, 25138100, 25448689, 26490104, 26582389, 27153923, 27927754, 28487361 View all (8 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	18674751		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	37830570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37830570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31465935		★★★★★ ★☆☆☆☆ 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
Hypermetropia, bilateral	Bilateral Hypermetropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	16541367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	18674751		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME 8 (disorder)	Joubert syndrome	GENOMICS_ENGLAND_DG	16541367, 18674751, 25138100, 29255182		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 8 (disorder)	Joubert syndrome	UNIPROT_DG	18674751, 25138100		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 8 (disorder)	Joubert syndrome	CLINVAR_DG	26092869		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 8 (disorder)	Joubert syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31569511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28611043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29378965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28611043, 29378965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25138100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	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
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25138100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ARL13B (ARF like GTPase 13B)