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	57520
Gene name	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
Gene symbol	HECW2
Synonyms (NCBI Gene)	NDHSALNEDL2
Chromosome	2
Chromosome location	2q32.3
Summary	This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143511416	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs774316240	C>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs878854416	C>T	Pathogenic	Coding sequence variant, missense variant
rs878854417	G>A	Pathogenic	Coding sequence variant, missense variant
rs878854422	A>C	Pathogenic	Coding sequence variant, missense variant
rs1057524302	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553629086	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553633403	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553635778	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1575235801	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1575240464	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1575240506	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1575255333	A>G	Likely-pathogenic	Coding sequence variant, missense variant

141

Show/Hide all (141)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023380	hsa-miR-122-5p	Microarray	17612493
MIRT438389	hsa-miR-944	Luciferase reporter assayWestern blot	25156441
MIRT438389	hsa-miR-944	Luciferase reporter assayWestern blot	25156441
MIRT720230	hsa-miR-6507-5p	HITS-CLIP	19536157
MIRT720229	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT720228	hsa-miR-617	HITS-CLIP	19536157
MIRT720227	hsa-miR-7977	HITS-CLIP	19536157
MIRT440516	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT440516	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT727507	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727506	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727505	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727504	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727502	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727503	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT720230	hsa-miR-6507-5p	HITS-CLIP	19536157
MIRT720229	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT720228	hsa-miR-617	HITS-CLIP	19536157
MIRT720227	hsa-miR-7977	HITS-CLIP	19536157
MIRT1043657	hsa-miR-1245	CLIP-seq
MIRT1043658	hsa-miR-1263	CLIP-seq
MIRT1043659	hsa-miR-1270	CLIP-seq
MIRT1043660	hsa-miR-130a	CLIP-seq
MIRT1043661	hsa-miR-130b	CLIP-seq
MIRT1043662	hsa-miR-1343	CLIP-seq
MIRT1043663	hsa-miR-140-5p	CLIP-seq
MIRT1043664	hsa-miR-142-3p	CLIP-seq
MIRT1043665	hsa-miR-142-5p	CLIP-seq
MIRT1043666	hsa-miR-148a	CLIP-seq
MIRT1043667	hsa-miR-148b	CLIP-seq
MIRT1043668	hsa-miR-152	CLIP-seq
MIRT1043669	hsa-miR-181a	CLIP-seq
MIRT1043670	hsa-miR-181b	CLIP-seq
MIRT1043671	hsa-miR-181c	CLIP-seq
MIRT1043672	hsa-miR-181d	CLIP-seq
MIRT1043673	hsa-miR-1910	CLIP-seq
MIRT1043674	hsa-miR-19a	CLIP-seq
MIRT1043675	hsa-miR-19b	CLIP-seq
MIRT1043676	hsa-miR-2054	CLIP-seq
MIRT1043677	hsa-miR-2116	CLIP-seq
MIRT1043678	hsa-miR-2964a-5p	CLIP-seq
MIRT1043679	hsa-miR-298	CLIP-seq
MIRT1043680	hsa-miR-301a	CLIP-seq
MIRT1043681	hsa-miR-301b	CLIP-seq
MIRT1043682	hsa-miR-3115	CLIP-seq
MIRT1043683	hsa-miR-3128	CLIP-seq
MIRT1043684	hsa-miR-3148	CLIP-seq
MIRT1043685	hsa-miR-3160-3p	CLIP-seq
MIRT1043686	hsa-miR-340	CLIP-seq
MIRT1043687	hsa-miR-3545-5p	CLIP-seq
MIRT1043688	hsa-miR-3666	CLIP-seq
MIRT1043689	hsa-miR-3690	CLIP-seq
MIRT1043690	hsa-miR-412	CLIP-seq
MIRT1043691	hsa-miR-4254	CLIP-seq
MIRT1043692	hsa-miR-4260	CLIP-seq
MIRT1043693	hsa-miR-4262	CLIP-seq
MIRT1043694	hsa-miR-4276	CLIP-seq
MIRT1043695	hsa-miR-4277	CLIP-seq
MIRT1043696	hsa-miR-4295	CLIP-seq
MIRT1043697	hsa-miR-4326	CLIP-seq
MIRT1043698	hsa-miR-4328	CLIP-seq
MIRT1043699	hsa-miR-4422	CLIP-seq
MIRT1043700	hsa-miR-4432	CLIP-seq
MIRT1043701	hsa-miR-4460	CLIP-seq
MIRT1043702	hsa-miR-4470	CLIP-seq
MIRT1043703	hsa-miR-448	CLIP-seq
MIRT1043704	hsa-miR-4528	CLIP-seq
MIRT1043705	hsa-miR-4531	CLIP-seq
MIRT1043706	hsa-miR-4536	CLIP-seq
MIRT1043707	hsa-miR-454	CLIP-seq
MIRT1043708	hsa-miR-4683	CLIP-seq
MIRT1043709	hsa-miR-4708-5p	CLIP-seq
MIRT1043710	hsa-miR-4764-3p	CLIP-seq
MIRT1043711	hsa-miR-4768-3p	CLIP-seq
MIRT1043712	hsa-miR-487a	CLIP-seq
MIRT1043713	hsa-miR-499-5p	CLIP-seq
MIRT1043714	hsa-miR-5096	CLIP-seq
MIRT1043715	hsa-miR-513a-5p	CLIP-seq
MIRT1043716	hsa-miR-520d-5p	CLIP-seq
MIRT1043717	hsa-miR-524-5p	CLIP-seq
MIRT1043718	hsa-miR-548a-3p	CLIP-seq
MIRT1043719	hsa-miR-548ae	CLIP-seq
MIRT1043720	hsa-miR-548aj	CLIP-seq
MIRT1043721	hsa-miR-548am	CLIP-seq
MIRT1043722	hsa-miR-548e	CLIP-seq
MIRT1043723	hsa-miR-548f	CLIP-seq
MIRT1043724	hsa-miR-548g	CLIP-seq
MIRT1043725	hsa-miR-548x	CLIP-seq
MIRT1043726	hsa-miR-570	CLIP-seq
MIRT1043727	hsa-miR-579	CLIP-seq
MIRT1043728	hsa-miR-586	CLIP-seq
MIRT1043729	hsa-miR-593	CLIP-seq
MIRT1043730	hsa-miR-600	CLIP-seq
MIRT1043731	hsa-miR-620	CLIP-seq
MIRT1043732	hsa-miR-875-3p	CLIP-seq
MIRT1043733	hsa-miR-9	CLIP-seq
MIRT2009418	hsa-miR-1200	CLIP-seq
MIRT2009419	hsa-miR-3134	CLIP-seq
MIRT1043684	hsa-miR-3148	CLIP-seq
MIRT1043686	hsa-miR-340	CLIP-seq
MIRT2009420	hsa-miR-3646	CLIP-seq
MIRT2009421	hsa-miR-3688-3p	CLIP-seq
MIRT2009422	hsa-miR-431	CLIP-seq
MIRT2009423	hsa-miR-432	CLIP-seq
MIRT2009424	hsa-miR-4534	CLIP-seq
MIRT2009425	hsa-miR-4694-3p	CLIP-seq
MIRT2009426	hsa-miR-4803	CLIP-seq
MIRT2009427	hsa-miR-495	CLIP-seq
MIRT2009428	hsa-miR-511	CLIP-seq
MIRT2009429	hsa-miR-561	CLIP-seq
MIRT2241798	hsa-miR-1236	CLIP-seq
MIRT2009419	hsa-miR-3134	CLIP-seq
MIRT2241799	hsa-miR-3154	CLIP-seq
MIRT1043694	hsa-miR-4276	CLIP-seq
MIRT2009424	hsa-miR-4534	CLIP-seq
MIRT2241800	hsa-miR-4653-3p	CLIP-seq
MIRT1043714	hsa-miR-5096	CLIP-seq
MIRT1043727	hsa-miR-579	CLIP-seq
MIRT2451087	hsa-miR-1193	CLIP-seq
MIRT2451088	hsa-miR-186	CLIP-seq
MIRT2451089	hsa-miR-3133	CLIP-seq
MIRT2009419	hsa-miR-3134	CLIP-seq
MIRT2451090	hsa-miR-3607-3p	CLIP-seq
MIRT2009424	hsa-miR-4534	CLIP-seq
MIRT2009426	hsa-miR-4803	CLIP-seq
MIRT2451091	hsa-miR-486-5p	CLIP-seq
MIRT2451092	hsa-miR-548a-5p	CLIP-seq
MIRT2451093	hsa-miR-548ab	CLIP-seq
MIRT2451094	hsa-miR-548ak	CLIP-seq
MIRT2451095	hsa-miR-548b-5p	CLIP-seq
MIRT2451096	hsa-miR-548c-5p	CLIP-seq
MIRT2451097	hsa-miR-548d-5p	CLIP-seq
MIRT2451098	hsa-miR-548h	CLIP-seq
MIRT2451099	hsa-miR-548i	CLIP-seq
MIRT2451100	hsa-miR-548j	CLIP-seq
MIRT2451101	hsa-miR-548k	CLIP-seq
MIRT2451102	hsa-miR-548l	CLIP-seq
MIRT2451103	hsa-miR-548w	CLIP-seq
MIRT2451104	hsa-miR-548y	CLIP-seq
MIRT2451105	hsa-miR-559	CLIP-seq
MIRT2451106	hsa-miR-7	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	24163370, 28514442, 33961781, 34927784
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IMP	24163370
GO:0048814	Process	Regulation of dendrite morphogenesis	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0072686	Component	Mitotic spindle	IDA	24163370

MIM	HGNC	e!Ensembl
617245	29853	ENSG00000138411

Q9P2P5

Protein name

E3 ubiquitin-protein ligase HECW2 (EC 2.3.2.26) (HECT, C2 and WW domain-containing protein 2) (HECT-type E3 ubiquitin transferase HECW2) (NEDD4-like E3 ubiquitin-protein ligase 2)

Protein function

E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370). {E

PDB

2LFE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16562	HECW_N	45 → 164	N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2	Domain
PF00168	C2	185 → 300	C2 domain	Domain
PF00397	WW	809 → 838	WW domain	Domain
PF18436	HECW1_helix	915 → 981	Helical box domain of E3 ubiquitin-protein ligase HECW1	Domain
PF00632	HECT	1267 → 1572	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in adult brain, lung and heart. {ECO:0000269|PubMed:12890487}.

Sequence

MASSAREHLLFVRRRNPQMRYTLSPENLQSLAAQSSMPENMTLQRANSDTDLVTSESRSS
LTASMYEYTLGQAQNLIIFWDIKEEVDPSDWIGLYHIDENSPANFWDSKNRGVTGTQKGQ
IVWRIEPGPYFMEPEIKICFKYYHGISGALRATTPCITVKNPAVMMGAEGMEGGASGNLH
SRKLVSFTLSDLRAVGLKKGMFFNPDPYLKMSIQPGKKSSFPTCAHHGQERRSTIISNTT
NPIWHREKYSFFALLTDVLEIEIKDKFAKSRPIIKRFLGKLTIPVQRLLERQAIGDQMLS
YNLGRRLPADHVSGYLQFKVEVTSSVHEDASPEAVGTILGVNSVNGDLGSPSDDEDMPGS
HHDSQVCSNGPVSEDSAADGTPKHSFRTSSTLEIDTEELTSTSSRTSPPRGRQDSLNDYL
DAIEHNGHSRPGTATCSERSMGASPKLRSSFPTDTRLNAMLHIDSDEEDHEFQQDLGYPS
SLEEEGGLIMFSRASRADDGSLTSQTKLEDNPVENEEASTHEAASFEDKPENLPELAESS
LPAGPAPEEGEGGPEPQPSADQGSAELCGSQEVDQPTSGADTGTSDASGGSRRAVSETES
LDQGSEPSQVSSETEPSDPARTESVSEASTRPEGESDLECADSSCNESVTTQLSSVDTRC
SSLESARFPETPAFSSQEEEDGACAAEPTSSGPAEGSQESVCTAGSLPVVQVPSGEDEGP
GAESATVPDQEELGEVWQRRGSLEGAAAAAESPPQEEGSAGEAQGTCEGATAQEEGATGG
SQANGHQPLRSLPSVRQDVSRYQRVDEALPPNWEARIDSHGRIFYVDHVNRTTTWQRPTA
PPAPQVLQRSNSIQQMEQLNRRYQSIRRTMTNERPEENTNAIDGAGEEADFHQASADFRR
ENILPHSTSRSRITLLLQSPPVKFLISPEFFTVLHSNPSAYRMFTNNTCLKHMITKVRRD
THHFERYQHNRDLVGFLNMFANKQLELPRGWEMKHDHQGKAFFVDHNSRTTTFIDPRLPL
QSSRPTSALVHRQHLTRQRSHSAGEVGEDSRHAGPPVLPRPSSTFNTVSRPQYQDMVPVA
YNDKIVAFLRQPNIFEILQERQPDLTRNHSLREKIQFIRTEGTPGLVRLSSDADLVMLLS
LFEEEIMSYVPPHALLHPSYCQSPRGSPVSSPQNSPGTQRANARAPAPYKRDFEAKLRNF
YRKLETKGYGQGPGKLKLIIRRDHLLEDAFNQIMGYSRKDLQRNKLYVTFVGEEGLDYSG
PSREFFFLVSRELFNPYYGLFEYSANDTYTVQISPMSAFVDNHHEWFRFSGRILGLALIH
QYLLDAFFTRPFYKALLRILCDLSDLEYLDEEFHQSLQWMKDNDIHDILDLTFTVNEEVF
GQITERELKPGGANIPVTEKNKKEYIERMVKWRIERGVVQQTESLVRGFYEVVDARLVSV
FDARELELVIAGTAEIDLSDWRNNTEYRGGYHDNHIVIRWFWAAVERFNNEQRLRLLQFV
TGTSSIPYEGFASLRGSNGPRRFCVEKWGKITALPRAHTCFNRLDLPPYPSFSMLYEKLL
TAVEETSTFGLE

Sequence length

1572

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs1691301206	RCV001814305	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HECW2-related disorder	Pathogenic	rs878854416, rs878854417	RCV003409363 RCV003417841	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia, seizures, and absent language	Likely pathogenic; Pathogenic	rs1687461840, rs1027776486, rs1687613797, rs1687614121, rs1688479407, rs1691301206, rs1692479893, rs1575240464, rs1383783174, rs2470317158, rs1298082831, rs878854416, rs878854422, rs878854417, rs774316240 View all (9 more)	RCV001328402 RCV001328401 RCV001328400 RCV001328399 RCV001328398 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	Pathogenic	rs878854417	RCV002508929	★★★★★ ★★★★☆ 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.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HECW2-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis, type 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oromandibular-limb hypogenesis spectrum	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	38176925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	31223615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24163370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36035299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24163370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24163370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24163370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24163370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27389779	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16179223, 22604720, 24163370, 25262651, 25363768, 25533962, 25555806, 25961944, 27334371, 27389779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27334371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27334371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27389779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	36181115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	27389779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27334371, 27389779, 29395664		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	27334371	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24163370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	34912899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	29753763	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	29753763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24782121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	GENOMICS_ENGLAND_DG	27334371, 27389779		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	UNIPROT_DG	27389779		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE	Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27334371, 27389779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	27389779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent hand flapping	Hand Flapping	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	Pubtator	27389779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24163370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	27389779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual Cortex Disorder	Visual cortex disease	BEFREE	29395664		★★★★★ ★☆☆☆☆ Found in Text Mining only

HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2)