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	403
Gene name	ARF like GTPase 3
Gene symbol	ARL3
Synonyms (NCBI Gene)	ARFL3JBTS35RP83
Chromosome	10
Chromosome location	10q24.32
Summary	ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs770782663	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs776901858	G>A	Pathogenic	Coding sequence variant, missense variant
rs1590122229	C>A	Pathogenic	Coding sequence variant, missense variant

161

Show/Hide all (161)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027108	hsa-miR-103a-3p	Sequencing	20371350
MIRT031723	hsa-miR-16-5p	Sequencing	20371350
MIRT719652	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT719651	hsa-miR-1976	HITS-CLIP	19536157
MIRT719650	hsa-miR-4660	HITS-CLIP	19536157
MIRT669510	hsa-miR-320a	HITS-CLIP	23824327
MIRT669509	hsa-miR-320b	HITS-CLIP	23824327
MIRT669508	hsa-miR-320c	HITS-CLIP	23824327
MIRT669507	hsa-miR-320d	HITS-CLIP	23824327
MIRT669506	hsa-miR-4429	HITS-CLIP	23824327
MIRT669505	hsa-miR-3646	HITS-CLIP	23824327
MIRT669504	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT669503	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT669502	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT669501	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT669500	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT669499	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT669498	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT669497	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT669496	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT719652	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT719651	hsa-miR-1976	HITS-CLIP	19536157
MIRT719650	hsa-miR-4660	HITS-CLIP	19536157
MIRT669510	hsa-miR-320a	HITS-CLIP	23824327
MIRT669509	hsa-miR-320b	HITS-CLIP	23824327
MIRT669508	hsa-miR-320c	HITS-CLIP	23824327
MIRT669507	hsa-miR-320d	HITS-CLIP	23824327
MIRT669506	hsa-miR-4429	HITS-CLIP	23824327
MIRT669505	hsa-miR-3646	HITS-CLIP	23824327
MIRT669504	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT669503	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT669502	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT669501	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT669500	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT669499	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT669498	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT669497	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT669496	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT797835	hsa-miR-127-5p	CLIP-seq
MIRT797836	hsa-miR-2467-3p	CLIP-seq
MIRT797837	hsa-miR-3120-5p	CLIP-seq
MIRT797838	hsa-miR-3125	CLIP-seq
MIRT797839	hsa-miR-3182	CLIP-seq
MIRT797840	hsa-miR-320e	CLIP-seq
MIRT797841	hsa-miR-361-3p	CLIP-seq
MIRT797842	hsa-miR-3663-3p	CLIP-seq
MIRT797843	hsa-miR-3663-5p	CLIP-seq
MIRT797844	hsa-miR-3678-3p	CLIP-seq
MIRT797845	hsa-miR-3916	CLIP-seq
MIRT797846	hsa-miR-4264	CLIP-seq
MIRT797847	hsa-miR-4433	CLIP-seq
MIRT797848	hsa-miR-4434	CLIP-seq
MIRT797849	hsa-miR-4516	CLIP-seq
MIRT797850	hsa-miR-4531	CLIP-seq
MIRT797851	hsa-miR-4633-5p	CLIP-seq
MIRT797852	hsa-miR-4694-3p	CLIP-seq
MIRT797853	hsa-miR-4722-5p	CLIP-seq
MIRT797854	hsa-miR-4778-5p	CLIP-seq
MIRT797855	hsa-miR-4786-3p	CLIP-seq
MIRT797856	hsa-miR-4793-3p	CLIP-seq
MIRT797857	hsa-miR-4794	CLIP-seq
MIRT797858	hsa-miR-486-3p	CLIP-seq
MIRT797859	hsa-miR-491-3p	CLIP-seq
MIRT797860	hsa-miR-522	CLIP-seq
MIRT797861	hsa-miR-532-5p	CLIP-seq
MIRT797862	hsa-miR-548l	CLIP-seq
MIRT797863	hsa-miR-548n	CLIP-seq
MIRT797864	hsa-miR-593	CLIP-seq
MIRT797865	hsa-miR-622	CLIP-seq
MIRT1935669	hsa-miR-1207-3p	CLIP-seq
MIRT1935670	hsa-miR-1245b-5p	CLIP-seq
MIRT1935671	hsa-miR-1260	CLIP-seq
MIRT1935672	hsa-miR-1260b	CLIP-seq
MIRT1935673	hsa-miR-1301	CLIP-seq
MIRT1935674	hsa-miR-133a	CLIP-seq
MIRT1935675	hsa-miR-133b	CLIP-seq
MIRT1935676	hsa-miR-15a	CLIP-seq
MIRT1935677	hsa-miR-15b	CLIP-seq
MIRT1935678	hsa-miR-16	CLIP-seq
MIRT1935679	hsa-miR-195	CLIP-seq
MIRT797837	hsa-miR-3120-5p	CLIP-seq
MIRT1935680	hsa-miR-3142	CLIP-seq
MIRT1935681	hsa-miR-3158-5p	CLIP-seq
MIRT1935682	hsa-miR-3189-3p	CLIP-seq
MIRT1935683	hsa-miR-3591-5p	CLIP-seq
MIRT1935684	hsa-miR-370	CLIP-seq
MIRT1935685	hsa-miR-424	CLIP-seq
MIRT797848	hsa-miR-4434	CLIP-seq
MIRT1935686	hsa-miR-450b-3p	CLIP-seq
MIRT797849	hsa-miR-4516	CLIP-seq
MIRT797850	hsa-miR-4531	CLIP-seq
MIRT1935687	hsa-miR-4539	CLIP-seq
MIRT1935688	hsa-miR-4646-3p	CLIP-seq
MIRT797855	hsa-miR-4786-3p	CLIP-seq
MIRT1935689	hsa-miR-4796-5p	CLIP-seq
MIRT1935690	hsa-miR-497	CLIP-seq
MIRT1935691	hsa-miR-5047	CLIP-seq
MIRT1935692	hsa-miR-545	CLIP-seq
MIRT1935693	hsa-miR-760	CLIP-seq
MIRT1935694	hsa-miR-769-3p	CLIP-seq
MIRT1935669	hsa-miR-1207-3p	CLIP-seq
MIRT1935670	hsa-miR-1245b-5p	CLIP-seq
MIRT2175745	hsa-miR-136	CLIP-seq
MIRT2175746	hsa-miR-181a	CLIP-seq
MIRT2175747	hsa-miR-181b	CLIP-seq
MIRT2175748	hsa-miR-181c	CLIP-seq
MIRT2175749	hsa-miR-181d	CLIP-seq
MIRT2175750	hsa-miR-1827	CLIP-seq
MIRT2175751	hsa-miR-184	CLIP-seq
MIRT797836	hsa-miR-2467-3p	CLIP-seq
MIRT1935680	hsa-miR-3142	CLIP-seq
MIRT2175752	hsa-miR-3180-5p	CLIP-seq
MIRT1935682	hsa-miR-3189-3p	CLIP-seq
MIRT1935683	hsa-miR-3591-5p	CLIP-seq
MIRT797842	hsa-miR-3663-3p	CLIP-seq
MIRT2175753	hsa-miR-421	CLIP-seq
MIRT2175754	hsa-miR-4255	CLIP-seq
MIRT2175755	hsa-miR-4262	CLIP-seq
MIRT797848	hsa-miR-4434	CLIP-seq
MIRT1935686	hsa-miR-450b-3p	CLIP-seq
MIRT797849	hsa-miR-4516	CLIP-seq
MIRT797850	hsa-miR-4531	CLIP-seq
MIRT2175756	hsa-miR-4704-3p	CLIP-seq
MIRT2175757	hsa-miR-4705	CLIP-seq
MIRT2175758	hsa-miR-4709-5p	CLIP-seq
MIRT2175759	hsa-miR-4713-5p	CLIP-seq
MIRT2175760	hsa-miR-4779	CLIP-seq
MIRT797855	hsa-miR-4786-3p	CLIP-seq
MIRT1935689	hsa-miR-4796-5p	CLIP-seq
MIRT2175761	hsa-miR-520a-5p	CLIP-seq
MIRT2175762	hsa-miR-525-5p	CLIP-seq
MIRT2175763	hsa-miR-616	CLIP-seq
MIRT2175764	hsa-miR-765	CLIP-seq
MIRT1935694	hsa-miR-769-3p	CLIP-seq
MIRT2384481	hsa-miR-1252	CLIP-seq
MIRT2478974	hsa-miR-1	CLIP-seq
MIRT2478975	hsa-miR-1287	CLIP-seq
MIRT2478976	hsa-miR-1537	CLIP-seq
MIRT2478977	hsa-miR-206	CLIP-seq
MIRT2478978	hsa-miR-3135b	CLIP-seq
MIRT2478979	hsa-miR-3673	CLIP-seq
MIRT2478980	hsa-miR-3919	CLIP-seq
MIRT2478981	hsa-miR-4263	CLIP-seq
MIRT2478982	hsa-miR-4320	CLIP-seq
MIRT2478983	hsa-miR-4450	CLIP-seq
MIRT2478984	hsa-miR-4756-3p	CLIP-seq
MIRT2478985	hsa-miR-4799-5p	CLIP-seq
MIRT2478986	hsa-miR-576-5p	CLIP-seq
MIRT2478987	hsa-miR-613	CLIP-seq
MIRT2478988	hsa-miR-935	CLIP-seq
MIRT2478974	hsa-miR-1	CLIP-seq
MIRT2478975	hsa-miR-1287	CLIP-seq
MIRT2478977	hsa-miR-206	CLIP-seq
MIRT2478978	hsa-miR-3135b	CLIP-seq
MIRT2478979	hsa-miR-3673	CLIP-seq
MIRT2478980	hsa-miR-3919	CLIP-seq
MIRT2478982	hsa-miR-4320	CLIP-seq
MIRT2478983	hsa-miR-4450	CLIP-seq
MIRT2478984	hsa-miR-4756-3p	CLIP-seq
MIRT2478987	hsa-miR-613	CLIP-seq
MIRT2478988	hsa-miR-935	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000281	Process	Mitotic cytokinesis	IMP	16525022
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	11847227, 16169070, 18588884, 22085962, 26455799, 27173435, 28514442, 30257685, 32296183, 33961781, 35271311
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	18588884, 22085962
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS	8034651
GO:0005634	Component	Nucleus	IDA	16525022
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	16525022
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	16525022
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005876	Component	Spindle microtubule	IDA	16525022
GO:0005881	Component	Cytoplasmic microtubule	IDA	12417528
GO:0005929	Component	Cilium	IDA	17646400
GO:0005929	Component	Cilium	IDA	16525022
GO:0005929	Component	Cilium	TAS
GO:0006892	Process	Post-Golgi vesicle-mediated transport	IMP	20106869
GO:0006893	Process	Golgi to plasma membrane transport	IEA
GO:0006893	Process	Golgi to plasma membrane transport	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IDA	22085962
GO:0008017	Function	Microtubule binding	IDA	12417528
GO:0015031	Process	Protein transport	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0016020	Component	Membrane	IEA
GO:0019003	Function	GDP binding	IDA	18588884
GO:0019003	Function	GDP binding	IEA
GO:0030496	Component	Midbody	IDA	16525022
GO:0032391	Component	Photoreceptor connecting cilium	IDA	12417528
GO:0036064	Component	Ciliary basal body	IDA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042461	Process	Photoreceptor cell development	IEA
GO:0042461	Process	Photoreceptor cell development	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	22085962
GO:0061512	Process	Protein localization to cilium	IMP	30269812
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1903441	Process	Protein localization to ciliary membrane	IEA
GO:1903441	Process	Protein localization to ciliary membrane	ISS

MIM	HGNC	e!Ensembl
604695	694	ENSG00000138175

P36405

Protein name

ADP-ribosylation factor-like protein 3

Protein function

Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP) (PubMed:16525022, PubMed:18

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00025	Arf	3 → 177	ADP-ribosylation factor family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina. Strongly expressed in connecting cilium, the myoid region of the inner segments (IS) and in cone photoreceptors (at protein level). {ECO:0000269|PubMed:12417528}.

Sequence

MGLLSILRKLKSAPDQEVRILLLGLDNAGKTTLLKQLASEDISHITPTQGFNIKSVQSQG
FKLNVWDIGGQRKIRPYWKNYFENTDILIYVIDSADRKRFEETGQELAELLEEEKLSCVP
VLIFANKQDLLTAAPASEIAEGLNLHTIRDRVWQIQSCSALTGEGVQDGMNWVCKNVNAK
KK

Sequence length

182

Interactions

View interactions

	Reactome
			Trafficking of myristoylated proteins to the cilium

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome 35	Pathogenic	rs776901858	RCV000714511	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone degeneration	Pathogenic	rs1590122229	RCV000791321	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARL3-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	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	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 83	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asteroid hyalosis	Asteroid hyalosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	33297941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	31743939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31743939		★★★★★ ★☆☆☆☆ 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 hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	24168557, 29255182, 30269812		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	30269812		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31234870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31234870	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28444310		★★★★★ ★☆☆☆☆ 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
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	30269812		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 17	Joubert Syndrome	GENOMICS_ENGLAND_DG	30269812		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 35	Joubert syndrome	UNIPROT_DG	30269812		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 35	Joubert syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31234870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ 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
Optic Atrophy	Optic Atrophy	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 Degeneration	Retinal degeneration	Pubtator	28444310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16472755, 23849777, 26964041, 30932721		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	26964041		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26964041, 30280194	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa 2	Retinitis pigmentosa	Pubtator	18588884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 2 (disorder)	Retinitis Pigmentosa	BEFREE	26936825, 28444310		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 83	Retinitis Pigmentosa	UNIPROT_DG	26964041		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	31743939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	27922604		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	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
Subcapsular cataract	Subcapsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	16413292, 26936825		★★★★★ ★☆☆☆☆ Found in Text Mining only

ARL3 (ARF like GTPase 3)