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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	25923
Gene name	Atlastin GTPase 3
Gene symbol	ATL3
Synonyms (NCBI Gene)	AT3ATL-3HSN1F
Chromosome	11
Chromosome location	11q13.1
Summary	This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated wit

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023532	hsa-miR-1-3p	Proteomics	18668040
MIRT050590	hsa-miR-20a-5p	CLASH	23622248
MIRT044964	hsa-miR-186-5p	CLASH	23622248
MIRT676058	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT676057	hsa-miR-1248	HITS-CLIP	23824327
MIRT676056	hsa-miR-564	HITS-CLIP	23824327
MIRT676055	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT676054	hsa-miR-4284	HITS-CLIP	23824327
MIRT676053	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT676052	hsa-miR-7977	HITS-CLIP	23824327
MIRT669468	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT669467	hsa-miR-637	HITS-CLIP	23824327
MIRT669466	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT669464	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT669465	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT669463	hsa-miR-4505	HITS-CLIP	23824327
MIRT669462	hsa-miR-5787	HITS-CLIP	23824327
MIRT669461	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT669460	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT669459	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT669458	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT669457	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT669456	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT669455	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT669454	hsa-miR-5698	HITS-CLIP	23824327
MIRT669453	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT669452	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT669451	hsa-miR-6795-5p	HITS-CLIP	23824327
MIRT669450	hsa-miR-6887-5p	HITS-CLIP	23824327
MIRT669449	hsa-miR-328-5p	HITS-CLIP	23824327
MIRT669448	hsa-miR-6885-5p	HITS-CLIP	23824327
MIRT669447	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT669446	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT669445	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT669444	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT669443	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT669442	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT669441	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT669440	hsa-miR-3689c	HITS-CLIP	23824327
MIRT669439	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT669438	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT669437	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT669436	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT669435	hsa-miR-3122	HITS-CLIP	23824327
MIRT669434	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT669433	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT669432	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT481351	hsa-miR-330-3p	PAR-CLIP	23592263
MIRT481350	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT481349	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT050590	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT481348	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT441161	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT481347	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT481346	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT481345	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT481344	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT481343	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT481342	hsa-miR-3609	PAR-CLIP	23592263
MIRT481341	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481340	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT481339	hsa-miR-3121-3p	PAR-CLIP	23592263
MIRT481338	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT481337	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT481336	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT481335	hsa-miR-5583-3p	PAR-CLIP	23592263
MIRT481333	hsa-miR-6768-5p	PAR-CLIP	23592263
MIRT481334	hsa-miR-4691-5p	PAR-CLIP	23592263
MIRT481332	hsa-miR-6792-3p	PAR-CLIP	23592263
MIRT481331	hsa-miR-5693	PAR-CLIP	23592263
MIRT481330	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT481329	hsa-miR-4276	PAR-CLIP	23592263
MIRT481328	hsa-miR-6844	PAR-CLIP	23592263
MIRT441161	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT050590	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT441161	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT481348	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT481350	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT481345	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT481349	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT050590	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT676058	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT676057	hsa-miR-1248	HITS-CLIP	23824327
MIRT676056	hsa-miR-564	HITS-CLIP	23824327
MIRT676055	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT676054	hsa-miR-4284	HITS-CLIP	23824327
MIRT676053	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT676052	hsa-miR-7977	HITS-CLIP	23824327
MIRT669468	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT669467	hsa-miR-637	HITS-CLIP	23824327
MIRT669466	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT669464	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT669465	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT669463	hsa-miR-4505	HITS-CLIP	23824327
MIRT669462	hsa-miR-5787	HITS-CLIP	23824327
MIRT669461	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT669460	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT669459	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT669458	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT669457	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT669456	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT669455	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT669454	hsa-miR-5698	HITS-CLIP	23824327
MIRT669453	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT669452	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT669451	hsa-miR-6795-5p	HITS-CLIP	23824327
MIRT669450	hsa-miR-6887-5p	HITS-CLIP	23824327
MIRT669449	hsa-miR-328-5p	HITS-CLIP	23824327
MIRT669448	hsa-miR-6885-5p	HITS-CLIP	23824327
MIRT669447	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT669446	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT669445	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT669444	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT669443	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT669442	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT669441	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT669440	hsa-miR-3689c	HITS-CLIP	23824327
MIRT669439	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT669438	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT669437	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT669436	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT669435	hsa-miR-3122	HITS-CLIP	23824327
MIRT669434	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT669433	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT669432	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT481351	hsa-miR-330-3p	PAR-CLIP	23592263
MIRT481350	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT481349	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT050590	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT481348	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT441161	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT481347	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT481346	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT481345	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT481344	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT481343	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT481342	hsa-miR-3609	PAR-CLIP	23592263
MIRT481341	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481340	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT481339	hsa-miR-3121-3p	PAR-CLIP	23592263
MIRT481338	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT481337	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT481336	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT481335	hsa-miR-5583-3p	PAR-CLIP	23592263
MIRT481333	hsa-miR-6768-5p	PAR-CLIP	23592263
MIRT481334	hsa-miR-4691-5p	PAR-CLIP	23592263
MIRT481332	hsa-miR-6792-3p	PAR-CLIP	23592263
MIRT481331	hsa-miR-5693	PAR-CLIP	23592263
MIRT481330	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT481329	hsa-miR-4276	PAR-CLIP	23592263
MIRT481328	hsa-miR-6844	PAR-CLIP	23592263
MIRT805884	hsa-miR-106a	CLIP-seq
MIRT805885	hsa-miR-106b	CLIP-seq
MIRT805886	hsa-miR-1238	CLIP-seq
MIRT805887	hsa-miR-124	CLIP-seq
MIRT805888	hsa-miR-1251	CLIP-seq
MIRT805889	hsa-miR-17	CLIP-seq
MIRT805890	hsa-miR-20a	CLIP-seq
MIRT805891	hsa-miR-20b	CLIP-seq
MIRT805892	hsa-miR-320a	CLIP-seq
MIRT805893	hsa-miR-320b	CLIP-seq
MIRT805894	hsa-miR-320c	CLIP-seq
MIRT805895	hsa-miR-320d	CLIP-seq
MIRT805896	hsa-miR-3647-3p	CLIP-seq
MIRT805897	hsa-miR-4429	CLIP-seq
MIRT805898	hsa-miR-4517	CLIP-seq
MIRT805899	hsa-miR-506	CLIP-seq
MIRT805900	hsa-miR-516a-3p	CLIP-seq
MIRT805901	hsa-miR-519a	CLIP-seq
MIRT805902	hsa-miR-519d	CLIP-seq
MIRT805903	hsa-miR-548ah	CLIP-seq
MIRT805904	hsa-miR-548an	CLIP-seq
MIRT805905	hsa-miR-587	CLIP-seq
MIRT805906	hsa-miR-93	CLIP-seq
MIRT1937958	hsa-miR-2115	CLIP-seq
MIRT1937959	hsa-miR-3120-3p	CLIP-seq
MIRT1937960	hsa-miR-4327	CLIP-seq
MIRT1937961	hsa-miR-4694-3p	CLIP-seq
MIRT805900	hsa-miR-516a-3p	CLIP-seq
MIRT1937962	hsa-miR-539	CLIP-seq
MIRT1937963	hsa-miR-595	CLIP-seq
MIRT805884	hsa-miR-106a	CLIP-seq
MIRT805885	hsa-miR-106b	CLIP-seq
MIRT2177448	hsa-miR-1236	CLIP-seq
MIRT805886	hsa-miR-1238	CLIP-seq
MIRT805887	hsa-miR-124	CLIP-seq
MIRT805888	hsa-miR-1251	CLIP-seq
MIRT2177449	hsa-miR-1343	CLIP-seq
MIRT805889	hsa-miR-17	CLIP-seq
MIRT2177450	hsa-miR-186	CLIP-seq
MIRT805890	hsa-miR-20a	CLIP-seq
MIRT805891	hsa-miR-20b	CLIP-seq
MIRT1937958	hsa-miR-2115	CLIP-seq
MIRT1937959	hsa-miR-3120-3p	CLIP-seq
MIRT2177451	hsa-miR-3133	CLIP-seq
MIRT2177452	hsa-miR-3201	CLIP-seq
MIRT805896	hsa-miR-3647-3p	CLIP-seq
MIRT2177453	hsa-miR-3690	CLIP-seq
MIRT2177454	hsa-miR-3918	CLIP-seq
MIRT2177455	hsa-miR-4254	CLIP-seq
MIRT2177456	hsa-miR-4307	CLIP-seq
MIRT2177457	hsa-miR-4330	CLIP-seq
MIRT2177458	hsa-miR-4511	CLIP-seq
MIRT805898	hsa-miR-4517	CLIP-seq
MIRT1937961	hsa-miR-4694-3p	CLIP-seq
MIRT2177459	hsa-miR-4716-5p	CLIP-seq
MIRT2177460	hsa-miR-4727-5p	CLIP-seq
MIRT2177461	hsa-miR-4769-3p	CLIP-seq
MIRT2177462	hsa-miR-4782-5p	CLIP-seq
MIRT2177463	hsa-miR-4791	CLIP-seq
MIRT805899	hsa-miR-506	CLIP-seq
MIRT2177464	hsa-miR-5095	CLIP-seq
MIRT805900	hsa-miR-516a-3p	CLIP-seq
MIRT805901	hsa-miR-519a	CLIP-seq
MIRT805902	hsa-miR-519d	CLIP-seq
MIRT1937962	hsa-miR-539	CLIP-seq
MIRT805903	hsa-miR-548ah	CLIP-seq
MIRT805904	hsa-miR-548an	CLIP-seq
MIRT2177465	hsa-miR-556-3p	CLIP-seq
MIRT805905	hsa-miR-587	CLIP-seq
MIRT805906	hsa-miR-93	CLIP-seq
MIRT805900	hsa-miR-516a-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	23969831, 32075961
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	18270207
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	18270207
GO:0007029	Process	Endoplasmic reticulum organization	IBA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007030	Process	Golgi organization	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016320	Process	Endoplasmic reticulum membrane fusion	IDA	37102997
GO:0016320	Process	Endoplasmic reticulum membrane fusion	IMP	27619977
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IDA	18270207
GO:0051260	Process	Protein homooligomerization	IBA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0071782	Component	Endoplasmic reticulum tubular network	IDA	23969831
GO:0098826	Component	Endoplasmic reticulum tubular network membrane	IDA	27619977, 37102997
GO:0098826	Component	Endoplasmic reticulum tubular network membrane	IDA	25548161
GO:0098826	Component	Endoplasmic reticulum tubular network membrane	IEA
GO:0140523	Function	GTPase-dependent fusogenic activity	IDA	37102997
GO:1990809	Process	Endoplasmic reticulum tubular network membrane organization	IMP	18270207, 19665976, 27619977, 37102997

MIM	HGNC	e!Ensembl
609369	24526	ENSG00000184743

Q6DD88

Protein name

Atlastin-3 (AT3) (ATL-3) (EC 3.6.5.-)

Protein function

Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect

PDB

5VGR , 6XJO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02263	GBP	36 → 310	Guanylate-binding protein, N-terminal domain	Domain
PF02841	GBP_C	312 → 438	Guanylate-binding protein, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level). {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106}.

Sequence

MLSPQRVAAAASRGADDAMESSKPGPVQVVLVQKDQHSFELDEKALASILLQDHIRDLDV
VVVSVAGAFRKGKSFILDFMLRYLYSQKESGHSNWLGDPEEPLTGFSWRGGSDPETTGIQ
IWSEVFTVEKPGGKKVAVVLMDTQGAFDSQSTVKDCATIFALSTMTSSVQIYNLSQNIQE
DDLQQLQLFTEYGRLAMDEIFQKPFQTLMFLVRDWSFPYEYSYGLQGGMAFLDKRLQVKE
HQHEEIQNVRNHIHSCFSDVTCFLLPHPGLQVATSPDFDGKLKDIAGEFKEQLQALIPYV
LNPSKLMEKEINGSKVTCRGLLEYFKAYIKIYQGEDLPHPKSMLQATAEANNLAAAASAK
DIYYNNMEEVCGGEKPYLSPDILEEKHCEFKQLALDHFKKTKKMGGKDFSFRYQQELEEE
IKELYENFCKHNGSKNVFSTFRTPAVLFTGIVALYIASGLTGFIGLEVVAQLFNCMVGLL
LIALLTWGYIRYSGQYRELGGAIDFGAAYVLEQASSHIGNSTQATVRDAVVGRPSMDKKA
Q

Sequence length

541

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
Neuropathy, hereditary sensory, type 1F	Pathogenic	rs587777108, rs1939486740	RCV000083312 RCV001200936	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATL3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease axonal type 2N	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IF	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acro-Osteolysis	Acrosteolysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	1959992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	29768202, 30339187, 31032711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	30339187, 34090020, 37769650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary sensory and autonomic neuropathy type 1	Sensory And Autonomic Neuropathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	24459106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	30773365		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	25470773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	1959992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31032711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29768202		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY, TYPE IF	Neuropathy	GENOMICS_ENGLAND_DG	24459106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IF	Neuropathy	UNIPROT_DG	24459106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IF	Neuropathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IF	Neuropathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	34090020, 37769650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30576541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	24459106, 29768202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	BEFREE	24459106, 30666337, 30680846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	30666337		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATL3 (atlastin GTPase 3)