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	388662
Gene name	Solute carrier family 6 member 17
Gene symbol	SLC6A17
Synonyms (NCBI Gene)	MRT48NTT4
Chromosome	1
Chromosome location	1p13.3
Summary	The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs375380880	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs775085213	G>A	Pathogenic	Coding sequence variant, missense variant

199

Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT572975	hsa-miR-1273d	HITS-CLIP	23824327
MIRT572973	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT572972	hsa-miR-4286	HITS-CLIP	23824327
MIRT653462	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT653461	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT653460	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT653459	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT653458	hsa-miR-4267	HITS-CLIP	23824327
MIRT653457	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT653456	hsa-miR-513a-5p	HITS-CLIP	23824327
MIRT653455	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT653454	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT653453	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT653452	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT653451	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT653450	hsa-miR-5096	HITS-CLIP	23824327
MIRT572975	hsa-miR-1273d	PAR-CLIP	20371350
MIRT572974	hsa-miR-7151-5p	PAR-CLIP	20371350
MIRT572973	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT572972	hsa-miR-4286	PAR-CLIP	20371350
MIRT572975	hsa-miR-1273d	HITS-CLIP	23824327
MIRT572973	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT572972	hsa-miR-4286	HITS-CLIP	23824327
MIRT653462	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT653461	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT653460	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT653459	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT653458	hsa-miR-4267	HITS-CLIP	23824327
MIRT653457	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT653456	hsa-miR-513a-5p	HITS-CLIP	23824327
MIRT653455	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT653454	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT653453	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT653452	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT653451	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT653450	hsa-miR-5096	HITS-CLIP	23824327
MIRT572975	hsa-miR-1273d	PAR-CLIP	20371350
MIRT572974	hsa-miR-7151-5p	PAR-CLIP	20371350
MIRT572973	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT572972	hsa-miR-4286	PAR-CLIP	20371350
MIRT1366124	hsa-miR-103a	CLIP-seq
MIRT1366125	hsa-miR-105	CLIP-seq
MIRT1366126	hsa-miR-107	CLIP-seq
MIRT1366127	hsa-miR-1271	CLIP-seq
MIRT1366128	hsa-miR-1298	CLIP-seq
MIRT1366129	hsa-miR-147	CLIP-seq
MIRT1366130	hsa-miR-15a	CLIP-seq
MIRT1366131	hsa-miR-15b	CLIP-seq
MIRT1366132	hsa-miR-16	CLIP-seq
MIRT1366133	hsa-miR-182	CLIP-seq
MIRT1366134	hsa-miR-195	CLIP-seq
MIRT1366135	hsa-miR-1976	CLIP-seq
MIRT1366136	hsa-miR-22	CLIP-seq
MIRT1366137	hsa-miR-2467-3p	CLIP-seq
MIRT1366138	hsa-miR-29a	CLIP-seq
MIRT1366139	hsa-miR-29b	CLIP-seq
MIRT1366140	hsa-miR-29c	CLIP-seq
MIRT1366141	hsa-miR-3065-3p	CLIP-seq
MIRT1366142	hsa-miR-31	CLIP-seq
MIRT1366143	hsa-miR-3138	CLIP-seq
MIRT1366144	hsa-miR-3153	CLIP-seq
MIRT1366145	hsa-miR-320a	CLIP-seq
MIRT1366146	hsa-miR-320b	CLIP-seq
MIRT1366147	hsa-miR-320c	CLIP-seq
MIRT1366148	hsa-miR-320d	CLIP-seq
MIRT1366149	hsa-miR-3911	CLIP-seq
MIRT1366150	hsa-miR-424	CLIP-seq
MIRT1366151	hsa-miR-4252	CLIP-seq
MIRT1366152	hsa-miR-4305	CLIP-seq
MIRT1366153	hsa-miR-4429	CLIP-seq
MIRT1366154	hsa-miR-4436b-3p	CLIP-seq
MIRT1366155	hsa-miR-450b-3p	CLIP-seq
MIRT1366156	hsa-miR-4519	CLIP-seq
MIRT1366157	hsa-miR-4520a-3p	CLIP-seq
MIRT1366158	hsa-miR-4640-5p	CLIP-seq
MIRT1366159	hsa-miR-4646-5p	CLIP-seq
MIRT1366160	hsa-miR-4668-5p	CLIP-seq
MIRT1366161	hsa-miR-4676-5p	CLIP-seq
MIRT1366162	hsa-miR-4685-5p	CLIP-seq
MIRT1366163	hsa-miR-4712-3p	CLIP-seq
MIRT1366164	hsa-miR-4726-5p	CLIP-seq
MIRT1366165	hsa-miR-4761-3p	CLIP-seq
MIRT1366166	hsa-miR-4777-3p	CLIP-seq
MIRT1366167	hsa-miR-4800-3p	CLIP-seq
MIRT1366168	hsa-miR-4800-5p	CLIP-seq
MIRT1366169	hsa-miR-497	CLIP-seq
MIRT1366170	hsa-miR-548al	CLIP-seq
MIRT1366171	hsa-miR-575	CLIP-seq
MIRT1366172	hsa-miR-644	CLIP-seq
MIRT1366173	hsa-miR-769-3p	CLIP-seq
MIRT1366174	hsa-miR-873	CLIP-seq
MIRT1366175	hsa-miR-875-5p	CLIP-seq
MIRT1366176	hsa-miR-96	CLIP-seq
MIRT2108708	hsa-miR-1226	CLIP-seq
MIRT2108709	hsa-miR-1237	CLIP-seq
MIRT1366128	hsa-miR-1298	CLIP-seq
MIRT2108710	hsa-miR-3667-3p	CLIP-seq
MIRT2108711	hsa-miR-4275	CLIP-seq
MIRT2108712	hsa-miR-4323	CLIP-seq
MIRT1366154	hsa-miR-4436b-3p	CLIP-seq
MIRT2108713	hsa-miR-451b	CLIP-seq
MIRT2108714	hsa-miR-4666-5p	CLIP-seq
MIRT2108715	hsa-miR-4757-5p	CLIP-seq
MIRT2108716	hsa-miR-4802-3p	CLIP-seq
MIRT2332300	hsa-miR-1254	CLIP-seq
MIRT2332301	hsa-miR-128	CLIP-seq
MIRT1366128	hsa-miR-1298	CLIP-seq
MIRT2332302	hsa-miR-141	CLIP-seq
MIRT1366130	hsa-miR-15a	CLIP-seq
MIRT1366131	hsa-miR-15b	CLIP-seq
MIRT1366132	hsa-miR-16	CLIP-seq
MIRT2332303	hsa-miR-1827	CLIP-seq
MIRT2332304	hsa-miR-193a-5p	CLIP-seq
MIRT1366134	hsa-miR-195	CLIP-seq
MIRT2332305	hsa-miR-200a	CLIP-seq
MIRT2332306	hsa-miR-218	CLIP-seq
MIRT1366136	hsa-miR-22	CLIP-seq
MIRT1366137	hsa-miR-2467-3p	CLIP-seq
MIRT2332307	hsa-miR-27a	CLIP-seq
MIRT2332308	hsa-miR-27b	CLIP-seq
MIRT2332309	hsa-miR-299-3p	CLIP-seq
MIRT1366141	hsa-miR-3065-3p	CLIP-seq
MIRT2332310	hsa-miR-3116	CLIP-seq
MIRT2332311	hsa-miR-3135b	CLIP-seq
MIRT2332312	hsa-miR-3150a-3p	CLIP-seq
MIRT2332313	hsa-miR-3175	CLIP-seq
MIRT2332314	hsa-miR-3192	CLIP-seq
MIRT1366145	hsa-miR-320a	CLIP-seq
MIRT1366146	hsa-miR-320b	CLIP-seq
MIRT1366147	hsa-miR-320c	CLIP-seq
MIRT1366148	hsa-miR-320d	CLIP-seq
MIRT2332315	hsa-miR-329	CLIP-seq
MIRT2332316	hsa-miR-3616-3p	CLIP-seq
MIRT2332317	hsa-miR-362-3p	CLIP-seq
MIRT2332318	hsa-miR-3652	CLIP-seq
MIRT2332319	hsa-miR-3664-5p	CLIP-seq
MIRT2332320	hsa-miR-3675-5p	CLIP-seq
MIRT2332321	hsa-miR-3690	CLIP-seq
MIRT2332322	hsa-miR-3925-3p	CLIP-seq
MIRT2332323	hsa-miR-3941	CLIP-seq
MIRT1366150	hsa-miR-424	CLIP-seq
MIRT2108711	hsa-miR-4275	CLIP-seq
MIRT2332324	hsa-miR-4283	CLIP-seq
MIRT2108712	hsa-miR-4323	CLIP-seq
MIRT1366153	hsa-miR-4429	CLIP-seq
MIRT2332325	hsa-miR-4430	CLIP-seq
MIRT1366154	hsa-miR-4436b-3p	CLIP-seq
MIRT2332326	hsa-miR-4489	CLIP-seq
MIRT2332327	hsa-miR-4492	CLIP-seq
MIRT2332328	hsa-miR-4498	CLIP-seq
MIRT2332329	hsa-miR-4514	CLIP-seq
MIRT2108713	hsa-miR-451b	CLIP-seq
MIRT2332330	hsa-miR-4638-3p	CLIP-seq
MIRT2332331	hsa-miR-4650-5p	CLIP-seq
MIRT2108714	hsa-miR-4666-5p	CLIP-seq
MIRT1366160	hsa-miR-4668-5p	CLIP-seq
MIRT1366162	hsa-miR-4685-5p	CLIP-seq
MIRT2332332	hsa-miR-4692	CLIP-seq
MIRT2332333	hsa-miR-4714-5p	CLIP-seq
MIRT2332334	hsa-miR-4755-3p	CLIP-seq
MIRT2108716	hsa-miR-4802-3p	CLIP-seq
MIRT2332335	hsa-miR-491-5p	CLIP-seq
MIRT1366169	hsa-miR-497	CLIP-seq
MIRT2332336	hsa-miR-510	CLIP-seq
MIRT2332337	hsa-miR-576-3p	CLIP-seq
MIRT2332338	hsa-miR-583	CLIP-seq
MIRT2332339	hsa-miR-603	CLIP-seq
MIRT2332340	hsa-miR-665	CLIP-seq
MIRT2332341	hsa-miR-762	CLIP-seq
MIRT2332342	hsa-miR-766	CLIP-seq
MIRT2332343	hsa-miR-939	CLIP-seq
MIRT2394795	hsa-miR-1207-5p	CLIP-seq
MIRT2332300	hsa-miR-1254	CLIP-seq
MIRT1366128	hsa-miR-1298	CLIP-seq
MIRT2332310	hsa-miR-3116	CLIP-seq
MIRT2394796	hsa-miR-3158-3p	CLIP-seq
MIRT2394797	hsa-miR-34a	CLIP-seq
MIRT2394798	hsa-miR-34c-5p	CLIP-seq
MIRT2332321	hsa-miR-3690	CLIP-seq
MIRT2394799	hsa-miR-4456	CLIP-seq
MIRT2394800	hsa-miR-449a	CLIP-seq
MIRT2394801	hsa-miR-449b	CLIP-seq
MIRT2332330	hsa-miR-4638-3p	CLIP-seq
MIRT2332331	hsa-miR-4650-5p	CLIP-seq
MIRT2332334	hsa-miR-4755-3p	CLIP-seq
MIRT2394802	hsa-miR-4763-3p	CLIP-seq
MIRT2394803	hsa-miR-615-5p	CLIP-seq
MIRT2394804	hsa-miR-635	CLIP-seq
MIRT2332302	hsa-miR-141	CLIP-seq
MIRT2332305	hsa-miR-200a	CLIP-seq
MIRT2626789	hsa-miR-4476	CLIP-seq
MIRT1366174	hsa-miR-873	CLIP-seq
MIRT2332302	hsa-miR-141	CLIP-seq
MIRT2332305	hsa-miR-200a	CLIP-seq
MIRT2691271	hsa-miR-361-3p	CLIP-seq
MIRT2691272	hsa-miR-4313	CLIP-seq
MIRT2626789	hsa-miR-4476	CLIP-seq
MIRT2691273	hsa-miR-4747-3p	CLIP-seq
MIRT1366174	hsa-miR-873	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0015293	Function	Symporter activity	IEA
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0015804	Process	Neutral amino acid transport	ISS
GO:0015816	Process	Glycine transport	IBA
GO:0015816	Process	Glycine transport	IEA
GO:0015816	Process	Glycine transport	ISS
GO:0015820	Process	L-leucine transport	IBA
GO:0015820	Process	L-leucine transport	IEA
GO:0015820	Process	L-leucine transport	ISS
GO:0015824	Process	Proline transport	IBA
GO:0015824	Process	Proline transport	IEA
GO:0015824	Process	Proline transport	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032328	Process	Alanine transport	IBA
GO:0032328	Process	Alanine transport	IEA
GO:0032328	Process	Alanine transport	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653

MIM	HGNC	e!Ensembl
610299	31399	ENSG00000197106

Q9H1V8

Protein name

Sodium-dependent neutral amino acid transporter SLC6A17 (Sodium-dependent neurotransmitter transporter NTT4) (Solute carrier family 6 member 17)

Protein function

Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	60 → 643	Sodium:neurotransmitter symporter family	Family

Sequence

MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAGGKQKAVEEELDAEDR
PAWNSKLQYILAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAV
GQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSE
CPVVRNGSVAVVEAECEKSSATTYFWYREALDISDSISESGGLNWKMTLCLLVAWSIVGM
AVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGILHMFTPKLDKMLDPQVWRE
AATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLVVFAVLGFKAN
IMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSAL
GLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLINLGLGSMIGTMAG
ITTPIIDTFKVPKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDDYSATLPLTLIVILEN
IAVAWIYGTKKFMQELTEMLGFRPYRFYFYMWKFVSPLCMAVLTTASIIQLGVTPPGYSA
WIKEEAAERYLYFPNWAMALLITLIVVATLPIPVVFVLRHFHLLSDGSNTLSVSYKKGRM
MKDISNLEENDETRFILSKVPSEAPSPMPTHRSYLGPGSTSPLETSGNPNGRYGSGYLLA
STPESEL

Sequence length

727

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Pathogenic	rs775085213, rs375380880	RCV000167526 RCV000167527	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC6A17-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36553681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25704603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48	Mental retardation	UNIPROT_DG	25704603		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48	Mental retardation	GENOMICS_ENGLAND_DG	25704603		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48	Mental retardation	ORPHANET_DG	25704603		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC6A17 (solute carrier family 6 member 17)