DNM1 (dynamin 1)

Gene

• Entrez ID: 1759
• Gene name: Dynamin 1
• Gene symbol: DNM1
• Synonyms (NCBI Gene): DEE31, DEE31A, DEE31B, DNM, EIEE31
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular traffic

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147897973	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs527412689	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs587777860	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587777861	G>C	Pathogenic	Missense variant, coding sequence variant
rs587777862	G>C	Pathogenic	Missense variant, coding sequence variant
rs754404446	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs760270633	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057518655	->GAT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1064794773	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794828	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794903	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795360	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795538	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691877	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554772945	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554772959	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554773487	G>T	Pathogenic	Coding sequence variant, missense variant
rs1554774401	A>T	Pathogenic	Coding sequence variant, missense variant
rs1554774575	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554774587	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554774708	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554781545	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554781552	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554781553	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1564328617	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1564332930	->TTCCAC	Pathogenic	Coding sequence variant, inframe insertion
rs1588352395	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1588368432	C>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039910	hsa-miR-615-3p	CLASH	23622248
MIRT942238	hsa-miR-224	CLIP-seq
MIRT942239	hsa-miR-2467-5p	CLIP-seq
MIRT942240	hsa-miR-3145-3p	CLIP-seq
MIRT942241	hsa-miR-3173-3p	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT942244	hsa-miR-4252	CLIP-seq
MIRT942245	hsa-miR-4253	CLIP-seq
MIRT942246	hsa-miR-4284	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT942249	hsa-miR-4695-5p	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942251	hsa-miR-4773	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT942255	hsa-miR-1286	CLIP-seq
MIRT942256	hsa-miR-134	CLIP-seq
MIRT942257	hsa-miR-214	CLIP-seq
MIRT942258	hsa-miR-3118	CLIP-seq
MIRT942259	hsa-miR-3126-5p	CLIP-seq
MIRT942260	hsa-miR-3136-5p	CLIP-seq
MIRT942261	hsa-miR-3169	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942262	hsa-miR-3529	CLIP-seq
MIRT942263	hsa-miR-3619-5p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT942264	hsa-miR-379	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942265	hsa-miR-4439	CLIP-seq
MIRT942266	hsa-miR-4451	CLIP-seq
MIRT942267	hsa-miR-4513	CLIP-seq
MIRT942268	hsa-miR-4515	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT942269	hsa-miR-4650-3p	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942270	hsa-miR-4738-5p	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT942271	hsa-miR-761	CLIP-seq
MIRT1978964	hsa-miR-122	CLIP-seq
MIRT1978965	hsa-miR-1253	CLIP-seq
MIRT1978966	hsa-miR-1321	CLIP-seq
MIRT942256	hsa-miR-134	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT1978968	hsa-miR-2117	CLIP-seq
MIRT1978969	hsa-miR-2277-3p	CLIP-seq
MIRT942258	hsa-miR-3118	CLIP-seq
MIRT942260	hsa-miR-3136-5p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT1978972	hsa-miR-3198	CLIP-seq
MIRT1978973	hsa-miR-326	CLIP-seq
MIRT1978974	hsa-miR-330-5p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT1978975	hsa-miR-4309	CLIP-seq
MIRT1978976	hsa-miR-4432	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942265	hsa-miR-4439	CLIP-seq
MIRT1978977	hsa-miR-4481	CLIP-seq
MIRT1978978	hsa-miR-4490	CLIP-seq
MIRT942267	hsa-miR-4513	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT1978979	hsa-miR-4654	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942270	hsa-miR-4738-5p	CLIP-seq
MIRT1978981	hsa-miR-4739	CLIP-seq
MIRT1978982	hsa-miR-4745-5p	CLIP-seq
MIRT1978983	hsa-miR-4756-5p	CLIP-seq
MIRT1978984	hsa-miR-4769-5p	CLIP-seq
MIRT942251	hsa-miR-4773	CLIP-seq
MIRT1978985	hsa-miR-4774-5p	CLIP-seq
MIRT1978986	hsa-miR-4779	CLIP-seq
MIRT1978987	hsa-miR-4787-5p	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT2214127	hsa-miR-128	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT2214128	hsa-miR-3978	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT942240	hsa-miR-3145-3p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT2518432	hsa-miR-3945	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942270	hsa-miR-4738-5p	CLIP-seq
MIRT2518433	hsa-miR-4761-3p	CLIP-seq
MIRT942251	hsa-miR-4773	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT942240	hsa-miR-3145-3p	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	20428113
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	10944110
GO:0005515	Function	Protein binding	IPI	9922133, 10206341, 12791276, 15252009, 15703209, 16234328, 16432212, 17474147, 17500595, 18353773, 20935625, 21706016, 21900206, 24282027, 29949766, 31980649, 33961781, 35271311, 37871017
GO:0005525	Function	GTP binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	9765310
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IMP	10074457
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	9765310
GO:0005737	Component	Cytoplasm	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IDA	8101525
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	IMP	19706678
GO:0006897	Process	Endocytosis	TAS	16648839
GO:0006898	Process	Receptor-mediated endocytosis	IDA	8101525
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IMP	10074457, 10521508
GO:0007032	Process	Endosome organization	IMP	19706678
GO:0008017	Function	Microtubule binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016185	Process	Synaptic vesicle budding from presynaptic endocytic zone membrane	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	ISS
GO:0019901	Function	Protein kinase binding	ISS
GO:0030139	Component	Endocytic vesicle	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042583	Component	Chromaffin granule	IEA
GO:0042802	Function	Identical protein binding	IPI	20428113, 20700106, 21927000, 21962517, 26302298, 30069048
GO:0042803	Function	Protein homodimerization activity	IDA	20428113
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0051260	Process	Protein homooligomerization	IDA	9765310
GO:0051289	Process	Protein homotetramerization	IDA	9362482
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097494	Process	Regulation of vesicle size	ISS
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0099049	Process	Clathrin coat assembly involved in endocytosis	ISS
GO:0099050	Process	Vesicle scission	IDA	19084269

Other IDs

• MIM: 602377
• HGNC: 2972
• e!Ensembl: ENSG00000106976

Protein

• UniProt ID: Q05193
• Protein name: Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)
• Protein function: Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission and participates in many forms of endocytosis, such as clathrin-mediated endocytosis or synaptic vesicle endocytosis as well as rapid endocytosis (RE) (PubMed:1
• PDB: 1DYN, 2DYN, 2X2E, 2X2F, 3SNH, 3ZYC, 3ZYS, 4UUD, 4UUK, 5D3Q, 6DLU, 6DLV, 6S9A, 7AX3, 8SXZ, 8SZ4, 8SZ7, 8SZ8, 8T0K, 8T0R, 8TYM, 8TYN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00350	Dynamin_N	34 → 207	Dynamin family	Domain
  PF01031	Dynamin_M	216 → 502	Dynamin central region	Family
  PF00169	PH	520 → 624	PH domain	Domain
  PF02212	GED	654 → 745	Dynamin GTPase effector domain	Family

• Sequence:

  MGNRGMEDLIPLVNRLQDAFSAIGQNADLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRG
  SGIVTRRPLVLQLVNATTEYAEFLHCKGKKFTDFEEVRLEIEAETDRVTGTNKGISPVPI
  NLRVYSPHVLNLTLVDLPGMTKVPVGDQPPDIEFQIRDMLMQFVTKENCLILAVSPANSD
  LANSDALKVAKEVDPQGQRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQK
  DIDGKKDITAALAAERKFFLSHPSYRHLADRMGTPYLQKVLNQQLTNHIRDTLPGLRNKL
  QSQLLSIEKEVEEYKNFRPDDPARKTKALLQMVQQFAVDFEKRIEGSGDQIDTYELSGGA
  RINRIFHERFPFELVKMEFDEKELRREISYAIKNIHGIRTGLFTPDMAFETIVKKQVKKI
  REPCLKCVDMVISELISTVRQCTKKLQQYPRLREEMERIVTTHIREREGRTKEQVMLLID
  IELAYMNTNHEDFIGFANAQQRSNQMNKKKTSGNQDEILVIRKGWLTINNIGIMKGGSKE
  YWFVLTAENLSWYKDDEEKEKKYMLSVDNLKLRDVEKGFMSSKHIFALFNTEQRNVYKDY
  RQLELACETQEEVDSWKASFLRAGVYPERVGDKEKASETEENGSDSFMHSMDPQLERQVE
  TIRNLVDSYMAIVNKTVRDLMPKTIMHLMINNTKEFIFSELLANLYSCGDQNTLMEESAE
  QAQRRDEMLRMYHALKEALSIIGDINTTTVSTPMPPPVDDSWLQVQSVPAGRRSPTSSPT
  PQRRAPAVPPARPGSRGPAPGPPPAGSALGGAPPVPSRPGASPDPFGPPPQVPSRPNRAP
  PGVPSRSGQASPSRPESPRPPFDL

• Sequence length: 864

Pathways

KEGG:

Phospholipase D signaling pathway
Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Bacterial invasion of epithelial cells

Reactome:

Toll Like Receptor 4 (TLR4) Cascade
Gap junction degradation
Formation of annular gap junctions
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Recycling pathway of L1
Clathrin-mediated endocytosis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy	Pathogenic	rs1588368432	RCV005603822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs747079285	RCV001824808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 31A	Likely pathogenic; Pathogenic	rs2131283599, rs2131158061, rs2131297826, rs2131175203, rs747024881, rs587777860, rs587777861, rs587777862, rs2539114371, rs1323426610, rs2538979366, rs2538984042, rs1554774401, rs2539074151, rs869312702, rs760270633, rs2131299485, rs2538974505, rs2538976259, rs1057518655, rs747079285, rs1554772945, rs1554774575, rs1554767313, rs1554767317, rs1554774587, rs1554772959, rs1554781553, rs1564332930, rs1588352395, rs1835085971, rs1833622746, rs1834792032, rs1829434336	RCV001379231 RCV001881516 RCV001987575 RCV002005077 RCV001971124 RCV000144707 RCV000144708 RCV000144709 RCV002465419 RCV002466317 RCV002466318 RCV002466319 RCV000170499 RCV003025554 RCV000209889 RCV003140422 RCV000170498 RCV003337802 RCV003590102 RCV003754781 RCV000415220 RCV002286525 RCV000585873 RCV000623650 RCV001823739 RCV001049240 RCV000696555 RCV000653150 RCV000653152 RCV000714522 RCV001027699 RCV001056857 RCV001243961 RCV001262676 RCV001309327	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 31B	Pathogenic	rs1458807270, rs2538976726, rs1588368432	RCV003224769 RCV003224771 RCV003224770	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DNM1-related disorder	Likely pathogenic	rs2538974447	RCV003402391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lennox-Gastaut syndrome	Pathogenic	rs2538983876	RCV002284151	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1131691877	RCV005624407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Pathogenic	rs2538983876	RCV002284151	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ 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
DOG DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	20847448		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30529763	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical absence seizure	Absence Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29397573	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	26611353	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25262651, 26611353, 26648591, 27476654, 28667181, 29397573, 35184021, 36553519	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27356094		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32573516	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34888380	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34888380	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	22096584		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34888380	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26611353, 28667181, 29397573, 36358993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32041280	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10074457, 11553700, 11879655, 12509422, 14985377, 15509649, 15731758, 1674590, 17460227, 17463283, 18250322, 1828536, 1832879, 19502294, 19633650, 19665976, 20428113, 20700442, 21102612, 21441247, 21926968, 21927001, 22099461, 22233676, 23092955, 23781021, 25262651, 25533962, 26611353, 26648591, 28667181, 6304244, 7877693, 7877694, 7962076, 8290576, 8360266, 9294229		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	CLINGEN_DG	20700442, 23934111, 25262651, 25779878, 26125563, 26611353, 26648591, 26795593, 27066543, 8101525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	25262651		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	26125563		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20700442, 25318457, 28865303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	26795593, 28667181, 39925045	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	25318457		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25262651, 26611353, 29397573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34172529, 36413998, 36553519, 39925045	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINGEN_DG	20700442, 23934111, 25262651, 25779878, 26125563, 26611353, 26648591, 26795593, 27066543, 8101525		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31	Epileptic encephalopathy	UNIPROT_DG	25262651, 25533962, 27476654		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31	Epileptic encephalopathy	CLINVAR_DG	25262651, 27806796, 28667181		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27066543		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	26125563		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24068912	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28441400		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29397573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkinesis	Hyperkinesia	Pubtator	40717768	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	26125563		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26611353, 28667181, 29397573, 39925045	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	40717768	Associate	★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	ORPHANET_DG	25262651, 25533962		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29177435		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34888380	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27356094		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28402939, 28674108		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	32783137	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	31556144		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	40717768	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20420693		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24673776	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nevus	Nevus	BEFREE	31556144		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	39925045	Associate	★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	39925045	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	20420693		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	20420693	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	23825400, 26039597, 29799522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23825400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	26611353	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	29397573		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	26611353, 28667181	Associate	★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29961886		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	39925045	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	26125563		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked infantile spasms	Spasms X-Linked	CLINGEN_DG	20700442, 23934111, 25262651, 25779878, 26125563, 26611353, 26648591, 26795593, 27066543, 8101525		★☆☆☆☆ Found in Text Mining only