DENND5A (DENN domain containing 5A)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23258
• Gene name: DENN domain containing 5A
• Gene symbol: DENND5A
• Synonyms (NCBI Gene): DEE49, EIEE49, RAB6IP1
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-

SNPs Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519307	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519308	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519310	G>-	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1057519563	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057519564	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1590275695	AC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

miRNA Show/Hide all (174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050288	hsa-miR-25-3p	CLASH	23622248
MIRT049154	hsa-miR-92a-3p	CLASH	23622248
MIRT047785	hsa-miR-30d-5p	CLASH	23622248
MIRT932596	hsa-miR-1183	CLIP-seq
MIRT932597	hsa-miR-1250	CLIP-seq
MIRT932598	hsa-miR-188-5p	CLIP-seq
MIRT932599	hsa-miR-204	CLIP-seq
MIRT932600	hsa-miR-211	CLIP-seq
MIRT932601	hsa-miR-3137	CLIP-seq
MIRT932602	hsa-miR-4327	CLIP-seq
MIRT932603	hsa-miR-4477a	CLIP-seq
MIRT932604	hsa-miR-4640-5p	CLIP-seq
MIRT932605	hsa-miR-4668-3p	CLIP-seq
MIRT932606	hsa-miR-4726-5p	CLIP-seq
MIRT932607	hsa-miR-545	CLIP-seq
MIRT932608	hsa-miR-548c-3p	CLIP-seq
MIRT932609	hsa-miR-605	CLIP-seq
MIRT932610	hsa-miR-618	CLIP-seq
MIRT932611	hsa-miR-636	CLIP-seq
MIRT932612	hsa-miR-877	CLIP-seq
MIRT1976134	hsa-miR-1227	CLIP-seq
MIRT1976135	hsa-miR-2053	CLIP-seq
MIRT1976136	hsa-miR-409-3p	CLIP-seq
MIRT1976137	hsa-miR-4261	CLIP-seq
MIRT1976138	hsa-miR-4449	CLIP-seq
MIRT1976139	hsa-miR-4496	CLIP-seq
MIRT1976140	hsa-miR-4536	CLIP-seq
MIRT1976141	hsa-miR-4738-3p	CLIP-seq
MIRT1976142	hsa-miR-4803	CLIP-seq
MIRT1976143	hsa-miR-494	CLIP-seq
MIRT1976144	hsa-miR-548g	CLIP-seq
MIRT1976145	hsa-miR-569	CLIP-seq
MIRT1976146	hsa-miR-889	CLIP-seq
MIRT932596	hsa-miR-1183	CLIP-seq
MIRT1976134	hsa-miR-1227	CLIP-seq
MIRT2211528	hsa-miR-1271	CLIP-seq
MIRT2211529	hsa-miR-182	CLIP-seq
MIRT2211530	hsa-miR-200b	CLIP-seq
MIRT2211531	hsa-miR-200c	CLIP-seq
MIRT2211532	hsa-miR-2114	CLIP-seq
MIRT2211533	hsa-miR-23a	CLIP-seq
MIRT2211534	hsa-miR-23b	CLIP-seq
MIRT2211535	hsa-miR-23c	CLIP-seq
MIRT932601	hsa-miR-3137	CLIP-seq
MIRT2211536	hsa-miR-3174	CLIP-seq
MIRT2211537	hsa-miR-3182	CLIP-seq
MIRT2211538	hsa-miR-34c-3p	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2211540	hsa-miR-3682-5p	CLIP-seq
MIRT2211541	hsa-miR-425	CLIP-seq
MIRT2211542	hsa-miR-429	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT2211544	hsa-miR-4307	CLIP-seq
MIRT932603	hsa-miR-4477a	CLIP-seq
MIRT1976140	hsa-miR-4536	CLIP-seq
MIRT2211545	hsa-miR-4639-3p	CLIP-seq
MIRT932604	hsa-miR-4640-5p	CLIP-seq
MIRT2211546	hsa-miR-4677-3p	CLIP-seq
MIRT2211547	hsa-miR-4679	CLIP-seq
MIRT2211548	hsa-miR-4717-3p	CLIP-seq
MIRT2211549	hsa-miR-4720-3p	CLIP-seq
MIRT932606	hsa-miR-4726-5p	CLIP-seq
MIRT1976141	hsa-miR-4738-3p	CLIP-seq
MIRT1976144	hsa-miR-548g	CLIP-seq
MIRT2211550	hsa-miR-564	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2211552	hsa-miR-96	CLIP-seq
MIRT2211530	hsa-miR-200b	CLIP-seq
MIRT2211531	hsa-miR-200c	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2211542	hsa-miR-429	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2515234	hsa-miR-1228	CLIP-seq
MIRT932597	hsa-miR-1250	CLIP-seq
MIRT2515235	hsa-miR-1321	CLIP-seq
MIRT2515236	hsa-miR-147	CLIP-seq
MIRT2515237	hsa-miR-1471	CLIP-seq
MIRT932598	hsa-miR-188-5p	CLIP-seq
MIRT2515238	hsa-miR-1910	CLIP-seq
MIRT932599	hsa-miR-204	CLIP-seq
MIRT1976135	hsa-miR-2053	CLIP-seq
MIRT932600	hsa-miR-211	CLIP-seq
MIRT2515239	hsa-miR-2115	CLIP-seq
MIRT2515240	hsa-miR-24	CLIP-seq
MIRT2515241	hsa-miR-3064-3p	CLIP-seq
MIRT2515242	hsa-miR-3155	CLIP-seq
MIRT2515243	hsa-miR-3155b	CLIP-seq
MIRT2515244	hsa-miR-3199	CLIP-seq
MIRT2515245	hsa-miR-338-3p	CLIP-seq
MIRT2515246	hsa-miR-3613-3p	CLIP-seq
MIRT2515247	hsa-miR-3662	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2515248	hsa-miR-3675-5p	CLIP-seq
MIRT2515249	hsa-miR-3911	CLIP-seq
MIRT1976136	hsa-miR-409-3p	CLIP-seq
MIRT2515250	hsa-miR-4264	CLIP-seq
MIRT2515251	hsa-miR-4270	CLIP-seq
MIRT2515252	hsa-miR-4283	CLIP-seq
MIRT2515253	hsa-miR-4285	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT932602	hsa-miR-4327	CLIP-seq
MIRT2515254	hsa-miR-4419a	CLIP-seq
MIRT2515255	hsa-miR-4438	CLIP-seq
MIRT2515256	hsa-miR-4441	CLIP-seq
MIRT2515257	hsa-miR-4489	CLIP-seq
MIRT2515258	hsa-miR-4510	CLIP-seq
MIRT2515259	hsa-miR-4530	CLIP-seq
MIRT2515260	hsa-miR-455-3p	CLIP-seq
MIRT2515261	hsa-miR-4648	CLIP-seq
MIRT932605	hsa-miR-4668-3p	CLIP-seq
MIRT2515262	hsa-miR-4685-5p	CLIP-seq
MIRT2515263	hsa-miR-4701-5p	CLIP-seq
MIRT2515264	hsa-miR-4728-5p	CLIP-seq
MIRT2515265	hsa-miR-4739	CLIP-seq
MIRT2515266	hsa-miR-4740-5p	CLIP-seq
MIRT2515267	hsa-miR-4756-5p	CLIP-seq
MIRT2515268	hsa-miR-484	CLIP-seq
MIRT2515269	hsa-miR-509-3p	CLIP-seq
MIRT932608	hsa-miR-548c-3p	CLIP-seq
MIRT1976145	hsa-miR-569	CLIP-seq
MIRT2515270	hsa-miR-588	CLIP-seq
MIRT932609	hsa-miR-605	CLIP-seq
MIRT932611	hsa-miR-636	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2515271	hsa-miR-644	CLIP-seq
MIRT2515272	hsa-miR-663b	CLIP-seq
MIRT932612	hsa-miR-877	CLIP-seq
MIRT1976146	hsa-miR-889	CLIP-seq
MIRT2515234	hsa-miR-1228	CLIP-seq
MIRT932597	hsa-miR-1250	CLIP-seq
MIRT2515235	hsa-miR-1321	CLIP-seq
MIRT2515236	hsa-miR-147	CLIP-seq
MIRT2515237	hsa-miR-1471	CLIP-seq
MIRT932598	hsa-miR-188-5p	CLIP-seq
MIRT2515238	hsa-miR-1910	CLIP-seq
MIRT2211530	hsa-miR-200b	CLIP-seq
MIRT2211531	hsa-miR-200c	CLIP-seq
MIRT932599	hsa-miR-204	CLIP-seq
MIRT1976135	hsa-miR-2053	CLIP-seq
MIRT932600	hsa-miR-211	CLIP-seq
MIRT2515240	hsa-miR-24	CLIP-seq
MIRT2515241	hsa-miR-3064-3p	CLIP-seq
MIRT2515242	hsa-miR-3155	CLIP-seq
MIRT2515243	hsa-miR-3155b	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2515248	hsa-miR-3675-5p	CLIP-seq
MIRT2515249	hsa-miR-3911	CLIP-seq
MIRT1976136	hsa-miR-409-3p	CLIP-seq
MIRT2515250	hsa-miR-4264	CLIP-seq
MIRT2515251	hsa-miR-4270	CLIP-seq
MIRT2515252	hsa-miR-4283	CLIP-seq
MIRT2211542	hsa-miR-429	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT932602	hsa-miR-4327	CLIP-seq
MIRT2515255	hsa-miR-4438	CLIP-seq
MIRT2515256	hsa-miR-4441	CLIP-seq
MIRT2515257	hsa-miR-4489	CLIP-seq
MIRT2515260	hsa-miR-455-3p	CLIP-seq
MIRT932605	hsa-miR-4668-3p	CLIP-seq
MIRT2515262	hsa-miR-4685-5p	CLIP-seq
MIRT2515265	hsa-miR-4739	CLIP-seq
MIRT2515267	hsa-miR-4756-5p	CLIP-seq
MIRT2515268	hsa-miR-484	CLIP-seq
MIRT2515269	hsa-miR-509-3p	CLIP-seq
MIRT932608	hsa-miR-548c-3p	CLIP-seq
MIRT1976145	hsa-miR-569	CLIP-seq
MIRT932609	hsa-miR-605	CLIP-seq
MIRT932611	hsa-miR-636	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2515271	hsa-miR-644	CLIP-seq
MIRT2515272	hsa-miR-663b	CLIP-seq
MIRT932612	hsa-miR-877	CLIP-seq
MIRT1976146	hsa-miR-889	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	19619496
GO:0005829	Component	Cytosol	TAS
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IEA
GO:0030904	Component	Retromer complex	IDA	19619496
GO:0031267	Function	Small GTPase binding	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	19619496

Other IDs

• MIM: 617278
• HGNC: 19344
• e!Ensembl: ENSG00000184014

Protein

• UniProt ID: Q6IQ26
• Protein name: DENN domain-containing protein 5A (Rab6-interacting protein 1) (Rab6IP1)
• Protein function: Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01477	PLAT	956 → 1062	PLAT/LH2 domain	Domain
  PF02141	DENN	202 → 390	DENN (AEX-3) domain	Family
  PF02759	RUN	795 → 947	RUN domain	Family
  PF02759	RUN	1142 → 1281	RUN domain	Family
  PF03455	dDENN	555 → 607	dDENN domain	Domain
  PF03456	uDENN	75 → 137	uDENN domain	Domain

• Sequence:

  MSGGGGGGGSAPSRFADYFVICGLDTETGLEPDELSALCQYIQASKARDGASPFISSTTE
  GENFEQTPLRRTFKSKVLARYPENVEWNPFDQDAVGMLCMPKGLAFKTQADPREPQFHAF
  IITREDGSRTFGFALTFYEEVTSKQICSAMQTLYHMHNAEYDVLHAPPADDRDQSSMEDG
  EDTPVTKLQRFNSYDISRDTLYVSKCICLITPMSFMKACRSVLEQLHQAVTSPQPPPLPL
  ESYIYNVLYEVPLPPPGRSLKFSGVYGPIICQRPSTNELPLFDFPVKEVFELLGVENVFQ
  LFTCALLEFQILLYSQHYQRLMTVAETITALMFPFQWQHVYVPILPASLLHFLDAPVPYL
  MGLHSNGLDDRSKLELPQEANLCFVDIDNHFIELPEDLPQFPNKLEFVQEVSEILMAFGI
  PPEGNLHCSESASKLKRLRASELVSDKRNGNIAGSPLHSYELLKENETIARLQALVKRTG
  VSLEKLEVREDPSSNKDLKVQCDEEELRIYQLNIQIREVFANRFTQMFADYEVFVIQPSQ
  DKESWFTNREQMQNFDKASFLSDQPEPYLPFLSRFLETQMFASFIDNKIMCHDDDDKDPV
  LRVFDSRVDKIRLLNVRTPTLRTSMYQKCTTVDEAEKAIELRLAKIDHTAIHPHLLDMKI
  GQGKYEPGFFPKLQSDVLSTGPASNKWTKRNAPAQWRRKDRQKQHTEHLRLDNDQREKYI
  QEARTMGSTIRQPKLSNLSPSVIAQTNWKFVEGLLKECRNKTKRMLVEKMGREAVELGHG
  EVNITGVEENTLIASLCDLLERIWSHGLQVKQGKSALWSHLLHYQDNRQRKLTSGSLSTS
  GILLDSERRKSDASSLMPPLRISLIQDMRHIQNIGEIKTDVGKARAWVRLSMEKKLLSRH
  LKQLLSDHELTKKLYKRYAFLRCDDEKEQFLYHLLSFNAVDYFCFTNVFTTILIPYHILI
  VPSKKLGGSMFTANPWICISGELGETQIMQIPRNVLEMTFECQNLGKLTTVQIGHDNSGL
  YAKWLVEYVMVRNEITGHTYKFPCGRWLGKGMDDGSLERILVGELLTSQPEVDERPCRTP
  PLQQSPSVIRRLVTISPNNKPKLNTGQIQESIGEAVNGIVKHFHKPEKERGSLTLLLCGE
  CGLVSALEQAFQHGFKSPRLFKNVFIWDFLEKAQTYYETLEKNEVVPEENWHTRARNFCR
  FVTAINNTPRNIGKDGKFQMLVCLGARDHLLHHWIALLADCPITAHMYEDVALIKDHTLV
  NSLIRVLQTLQEFNITLETSLVKGIDI

• Sequence length: 1287

Pathways

Reactome Pathway:

RAB GEFs exchange GTP for GDP on RABs

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
DENND5A-related disorder	Likely pathogenic; Pathogenic	rs1378771732, rs1057519563	RCV003983334 RCV003950331	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 49	Likely pathogenic; Pathogenic	rs1849592470, rs1381160481, rs2493741184, rs1057519307, rs1057519308, rs1057519310, rs1057519563, rs1057519564	RCV001808304 RCV003322692 RCV003493229 RCV000415577 RCV000415606 RCV000415582 RCV000416961 RCV000416977	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	36222912	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (10)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27431290, 27866705		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27431290		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49	Epileptic encephalopathy	UNIPROT_DG	27431290, 27866705		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCNB1 2 shared diseasesDevelopmental and epileptic encephalopathy, Tourette syndrome 4 shared evidence sourcesDisgenet (Developmental and epileptic encephalopathy), HPO (Developmental and epileptic encephalopathy), ClinVar (Developmental and epileptic encephalopathy), CTD (Developmental and epileptic encephalopathy) Related via 2 shared diseases including Developmental and epileptic encephalopathy, Tourette syndrome — evidence mostly Disgenet. COL24A1 2 shared diseasesTourette syndrome, Ocular hypertension 2 shared evidence sourcesDisgenet (Tourette syndrome), GWAS catalog (Ocular hypertension) Related via 2 shared diseases including Tourette syndrome, Ocular hypertension — evidence mostly Disgenet. ARV1 1 shared diseaseDevelopmental and epileptic encephalopathy 4 shared evidence sourcesDisgenet (Developmental and epileptic encephalopathy), HPO (Developmental and epileptic encephalopathy), ClinVar (Developmental and epileptic encephalopathy), CTD (Developmental and epileptic encephalopathy) Related via 1 shared disease including Developmental and epileptic encephalopathy — evidence mostly Disgenet. MDH2 1 shared diseaseDevelopmental and epileptic encephalopathy 4 shared evidence sourcesDisgenet (Developmental and epileptic encephalopathy), HPO (Developmental and epileptic encephalopathy), ClinVar (Developmental and epileptic encephalopathy), CTD (Developmental and epileptic encephalopathy) Related via 1 shared disease including Developmental and epileptic encephalopathy — evidence mostly Disgenet. NAPB 1 shared diseaseDevelopmental and epileptic encephalopathy 3 shared evidence sourcesDisgenet (Developmental and epileptic encephalopathy), HPO (Developmental and epileptic encephalopathy), ClinVar (Developmental and epileptic encephalopathy) Related via 1 shared disease including Developmental and epileptic encephalopathy — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNB1	2	["Developmental and epileptic encephalopathy","Tourette syndrome"]	0	[]	4	["Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)"]
COL24A1	2	["Tourette syndrome","Ocular hypertension"]	0	[]	2	["Disgenet (Tourette syndrome)","GWAS catalog (Ocular hypertension)"]
ARV1	1	["Developmental and epileptic encephalopathy"]	0	[]	4	["Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)"]
MDH2	1	["Developmental and epileptic encephalopathy"]	0	[]	4	["Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)"]
NAPB	1	["Developmental and epileptic encephalopathy"]	0	[]	3	["Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)"]

Diseases Linked via Similar Genes

Anorexia nervosa Linked via 1 of 5 related genesKCNB1 Atrial fibrillation Linked via 1 of 5 related genesKCNB1 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesKCNB1 Autism Linked via 1 of 5 related genesKCNB1 Bipolar disorder Linked via 1 of 5 related genesKCNB1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Anorexia nervosa	1	["KCNB1"]
Atrial fibrillation	1	["KCNB1"]
Attention deficit hyperactivity disorder	1	["KCNB1"]
Autism	1	["KCNB1"]
Bipolar disorder	1	["KCNB1"]