SPTAN1 (spectrin alpha, non-erythrocytic 1)

Gene

• Entrez ID: 6709
• Gene name: Spectrin alpha, non-erythrocytic 1
• Gene symbol: SPTAN1
• Synonyms (NCBI Gene): DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2
• Disease Acronyms (UniProt): DEE5, DEVEP, HMND11, SPG91
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34654141	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs72758823	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs77358650	G>A	Likely-pathogenic, likely-benign, benign	Missense variant, coding sequence variant
rs138101005	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs138985089	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs143166100	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs144787939	T>G	Likely-benign, benign, pathogenic	Missense variant, coding sequence variant
rs145038571	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147132904	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Synonymous variant, coding sequence variant
rs147233101	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs147466898	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs150870424	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs187613754	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant
rs200456378	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs200543425	T>G	Benign, likely-benign, pathogenic	Intron variant
rs202180736	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371350283	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373491498	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377253398	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377437879	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs398122865	AGC>-	Pathogenic	Inframe deletion, coding sequence variant
rs569997507	C>T	Uncertain-significance, likely-benign, pathogenic	Missense variant, coding sequence variant
rs587784438	GAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587784440	ACCAGCTGG>-,ACCAGCTGGACCAGCTGG	Uncertain-significance, likely-pathogenic, pathogenic	Inframe insertion, inframe deletion, coding sequence variant
rs754528571	CCTA>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs763385120	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs768986492	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770046688	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs778489951	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs779993051	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs780658554	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053298	G>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs796053322	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796053327	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796053332	CTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs796053334	->CAGCTGGGC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs796053335	->GCATGC	Pathogenic	Coding sequence variant, inframe insertion
rs797046004	->AA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1305659962	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1339046005	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1441152520	A>G	Pathogenic	Missense variant, coding sequence variant
rs1554746442	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554759745	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554769022	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554769099	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1564197227	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1564286708	C>T	Pathogenic	Missense variant, coding sequence variant
rs1589311413	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1589393179	->CTGCAG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1589416130	CATCCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025260	hsa-miR-34a-5p	Proteomics	21566225
MIRT025260	hsa-miR-34a-5p	Proteomics	21566225
MIRT043347	hsa-miR-331-3p	CLASH	23622248
MIRT038805	hsa-miR-93-3p	CLASH	23622248
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386629	hsa-miR-1272	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386631	hsa-miR-128	CLIP-seq
MIRT1386632	hsa-miR-134	CLIP-seq
MIRT1386633	hsa-miR-219-5p	CLIP-seq
MIRT1386634	hsa-miR-29a	CLIP-seq
MIRT1386635	hsa-miR-29b	CLIP-seq
MIRT1386636	hsa-miR-29c	CLIP-seq
MIRT1386637	hsa-miR-3118	CLIP-seq
MIRT1386638	hsa-miR-3164	CLIP-seq
MIRT1386639	hsa-miR-3606	CLIP-seq
MIRT1386640	hsa-miR-3609	CLIP-seq
MIRT1386641	hsa-miR-3616-3p	CLIP-seq
MIRT1386642	hsa-miR-3654	CLIP-seq
MIRT1386643	hsa-miR-3669	CLIP-seq
MIRT1386644	hsa-miR-3682-3p	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386647	hsa-miR-4260	CLIP-seq
MIRT1386648	hsa-miR-4279	CLIP-seq
MIRT1386649	hsa-miR-4286	CLIP-seq
MIRT1386650	hsa-miR-4436b-3p	CLIP-seq
MIRT1386651	hsa-miR-4445	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386654	hsa-miR-4666-5p	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386658	hsa-miR-4721	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386660	hsa-miR-4728-5p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386662	hsa-miR-4782-3p	CLIP-seq
MIRT1386663	hsa-miR-508-3p	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386665	hsa-miR-548ah	CLIP-seq
MIRT1386666	hsa-miR-570	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386669	hsa-miR-758	CLIP-seq
MIRT1386670	hsa-miR-767-5p	CLIP-seq
MIRT1386671	hsa-miR-921	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386672	hsa-miR-1262	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386629	hsa-miR-1272	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386631	hsa-miR-128	CLIP-seq
MIRT1386632	hsa-miR-134	CLIP-seq
MIRT1386673	hsa-miR-1915	CLIP-seq
MIRT1386633	hsa-miR-219-5p	CLIP-seq
MIRT1386634	hsa-miR-29a	CLIP-seq
MIRT1386635	hsa-miR-29b	CLIP-seq
MIRT1386636	hsa-miR-29c	CLIP-seq
MIRT1386637	hsa-miR-3118	CLIP-seq
MIRT1386638	hsa-miR-3164	CLIP-seq
MIRT1386639	hsa-miR-3606	CLIP-seq
MIRT1386641	hsa-miR-3616-3p	CLIP-seq
MIRT1386642	hsa-miR-3654	CLIP-seq
MIRT1386644	hsa-miR-3682-3p	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386674	hsa-miR-4270	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386648	hsa-miR-4279	CLIP-seq
MIRT1386649	hsa-miR-4286	CLIP-seq
MIRT1386650	hsa-miR-4436b-3p	CLIP-seq
MIRT1386676	hsa-miR-4441	CLIP-seq
MIRT1386651	hsa-miR-4445	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386677	hsa-miR-4651	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386678	hsa-miR-4701-3p	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386658	hsa-miR-4721	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386662	hsa-miR-4782-3p	CLIP-seq
MIRT1386680	hsa-miR-503	CLIP-seq
MIRT1386663	hsa-miR-508-3p	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386681	hsa-miR-608	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386669	hsa-miR-758	CLIP-seq
MIRT1386670	hsa-miR-767-5p	CLIP-seq
MIRT1386671	hsa-miR-921	CLIP-seq
MIRT1554116	hsa-miR-185	CLIP-seq
MIRT1554117	hsa-miR-3925-5p	CLIP-seq
MIRT1554118	hsa-miR-4306	CLIP-seq
MIRT1554119	hsa-miR-4644	CLIP-seq
MIRT1554120	hsa-miR-765	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386680	hsa-miR-503	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386672	hsa-miR-1262	CLIP-seq
MIRT1386628	hsa-miR-1264	CLIP-seq
MIRT1386629	hsa-miR-1272	CLIP-seq
MIRT1386630	hsa-miR-1275	CLIP-seq
MIRT1386631	hsa-miR-128	CLIP-seq
MIRT1386632	hsa-miR-134	CLIP-seq
MIRT1554116	hsa-miR-185	CLIP-seq
MIRT1386673	hsa-miR-1915	CLIP-seq
MIRT1386633	hsa-miR-219-5p	CLIP-seq
MIRT1386634	hsa-miR-29a	CLIP-seq
MIRT1386635	hsa-miR-29b	CLIP-seq
MIRT1386636	hsa-miR-29c	CLIP-seq
MIRT1386637	hsa-miR-3118	CLIP-seq
MIRT1386638	hsa-miR-3164	CLIP-seq
MIRT1386639	hsa-miR-3606	CLIP-seq
MIRT1386640	hsa-miR-3609	CLIP-seq
MIRT1386641	hsa-miR-3616-3p	CLIP-seq
MIRT1386642	hsa-miR-3654	CLIP-seq
MIRT1386644	hsa-miR-3682-3p	CLIP-seq
MIRT1554117	hsa-miR-3925-5p	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386647	hsa-miR-4260	CLIP-seq
MIRT1386674	hsa-miR-4270	CLIP-seq
MIRT1386675	hsa-miR-4271	CLIP-seq
MIRT1386648	hsa-miR-4279	CLIP-seq
MIRT1386649	hsa-miR-4286	CLIP-seq
MIRT1554118	hsa-miR-4306	CLIP-seq
MIRT1386650	hsa-miR-4436b-3p	CLIP-seq
MIRT1386676	hsa-miR-4441	CLIP-seq
MIRT1386651	hsa-miR-4445	CLIP-seq
MIRT1386652	hsa-miR-4525	CLIP-seq
MIRT1554119	hsa-miR-4644	CLIP-seq
MIRT1386677	hsa-miR-4651	CLIP-seq
MIRT1386653	hsa-miR-4665-5p	CLIP-seq
MIRT1386654	hsa-miR-4666-5p	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386678	hsa-miR-4701-3p	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386658	hsa-miR-4721	CLIP-seq
MIRT1386659	hsa-miR-4723-5p	CLIP-seq
MIRT1386679	hsa-miR-4725-3p	CLIP-seq
MIRT1386660	hsa-miR-4728-5p	CLIP-seq
MIRT1386661	hsa-miR-4729	CLIP-seq
MIRT1386662	hsa-miR-4782-3p	CLIP-seq
MIRT1386680	hsa-miR-503	CLIP-seq
MIRT1386663	hsa-miR-508-3p	CLIP-seq
MIRT1386664	hsa-miR-511	CLIP-seq
MIRT1386665	hsa-miR-548ah	CLIP-seq
MIRT1386666	hsa-miR-570	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq
MIRT1386681	hsa-miR-608	CLIP-seq
MIRT1386668	hsa-miR-625	CLIP-seq
MIRT1386669	hsa-miR-758	CLIP-seq
MIRT1554120	hsa-miR-765	CLIP-seq
MIRT1386670	hsa-miR-767-5p	CLIP-seq
MIRT1386671	hsa-miR-921	CLIP-seq
MIRT1386645	hsa-miR-3977	CLIP-seq
MIRT1386655	hsa-miR-4690-5p	CLIP-seq
MIRT1386657	hsa-miR-4720-3p	CLIP-seq
MIRT1386626	hsa-miR-103a	CLIP-seq
MIRT1386627	hsa-miR-107	CLIP-seq
MIRT1386640	hsa-miR-3609	CLIP-seq
MIRT1386646	hsa-miR-3978	CLIP-seq
MIRT1386656	hsa-miR-4708-3p	CLIP-seq
MIRT1386665	hsa-miR-548ah	CLIP-seq
MIRT1386667	hsa-miR-582-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	2307671
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12571280, 12820899, 15328537, 16336193, 17043677, 19102630, 20706999, 30021884, 31413325
GO:0005516	Function	Calmodulin binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0008091	Component	Spectrin	TAS	2307671
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	TAS	2307671
GO:0035580	Component	Specific granule lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051693	Process	Actin filament capping	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904724	Component	Tertiary granule lumen	TAS

Other IDs

• MIM: 182810
• HGNC: 11273
• e!Ensembl: ENSG00000197694

Protein

• UniProt ID: Q13813
• Protein name: Spectrin alpha chain, non-erythrocytic 1 (Alpha-II spectrin) (Fodrin alpha chain) (Spectrin, non-erythroid alpha subunit)
• Protein function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
• PDB: 2FOT, 3F31, 3FB2, 5FW9, 5FWB, 5FWC, 6ZEH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00435	Spectrin	44 → 147	Spectrin repeat	Domain
  PF00435	Spectrin	149 → 252	Spectrin repeat	Domain
  PF00435	Spectrin	255 → 359	Spectrin repeat	Domain
  PF00435	Spectrin	361 → 465	Spectrin repeat	Domain
  PF00435	Spectrin	467 → 571	Spectrin repeat	Domain
  PF00435	Spectrin	573 → 676	Spectrin repeat	Domain
  PF00435	Spectrin	678 → 782	Spectrin repeat	Domain
  PF00435	Spectrin	784 → 888	Spectrin repeat	Domain
  PF00435	Spectrin	890 → 973	Spectrin repeat	Domain
  PF00018	SH3_1	973 → 1018	SH3 domain	Domain
  PF00435	Spectrin	1092 → 1175	Spectrin repeat	Domain
  PF00435	Spectrin	1233 → 1337	Spectrin repeat	Domain
  PF00435	Spectrin	1339 → 1443	Spectrin repeat	Domain
  PF00435	Spectrin	1445 → 1549	Spectrin repeat	Domain
  PF00435	Spectrin	1551 → 1656	Spectrin repeat	Domain
  PF00435	Spectrin	1658 → 1762	Spectrin repeat	Domain
  PF00435	Spectrin	1764 → 1868	Spectrin repeat	Domain
  PF00435	Spectrin	1870 → 1974	Spectrin repeat	Domain
  PF00435	Spectrin	1976 → 2081	Spectrin repeat	Domain
  PF00435	Spectrin	2091 → 2195	Spectrin repeat	Domain
  PF00435	Spectrin	2205 → 2310	Spectrin repeat	Domain
  PF13499	EF-hand_7	2325 → 2396	EF-hand domain pair	Domain
  PF08726	EFhand_Ca_insen	2402 → 2471	Ca2+ insensitive EF hand	Domain

• Sequence:

  MDPSGVKVLETAEDIQERRQQVLDRYHRFKELSTLRRQKLEDSYRFQFFQRDAEELEKWI
  QEKLQIASDENYKDPTNLQGKLQKHQAFEAEVQANSGAIVKLDETGNLMISEGHFASETI
  RTRLMELHRQWELLLEKMREKGIKLLQAQKLVQYLRECEDVMDWINDKEAIVTSEELGQD
  LEHVEVLQKKFEEFQTDMAAHEERVNEVNQFAAKLIQEQHPEEELIKTKQDEVNAAWQRL
  KGLALQRQGKLFGAAEVQRFNRDVDETISWIKEKEQLMASDDFGRDLASVQALLRKHEGL
  ERDLAALEDKVKALCAEADRLQQSHPLSATQIQVKREELITNWEQIRTLAAERHARLNDS
  YRLQRFLADFRDLTSWVTEMKALINADELASDVAGAEALLDRHQEHKGEIDAHEDSFKSA
  DESGQALLAAGHYASDEVREKLTVLSEERAALLELWELRRQQYEQCMDLQLFYRDTEQVD
  NWMSKQEAFLLNEDLGDSLDSVEALLKKHEDFEKSLSAQEEKITALDEFATKLIQNNHYA
  MEDVATRRDALLSRRNALHERAMRRRAQLADSFHLQQFFRDSDELKSWVNEKMKTATDEA
  YKDPSNLQGKVQKHQAFEAELSANQSRIDALEKAGQKLIDVNHYAKDEVAARMNEVISLW
  KKLLEATELKGIKLREANQQQQFNRNVEDIELWLYEVEGHLASDDYGKDLTNVQNLQKKH
  ALLEADVAAHQDRIDGITIQARQFQDAGHFDAENIKKKQEALVARYEALKEPMVARKQKL
  ADSLRLQQLFRDVEDEETWIREKEPIAASTNRGKDLIGVQNLLKKHQALQAEIAGHEPRI
  KAVTQKGNAMVEEGHFAAEDVKAKLHELNQKWEALKAKASQRRQDLEDSLQAQQYFADAN
  EAESWMREKEPIVGSTDYGKDEDSAEALLKKHEALMSDLSAYGSSIQALREQAQSCRQQV
  APTDDETGKELVLALYDYQEKSPREVTMKKGDILTLLNSTNKDWWKVEVNDRQGFVPAAY
  VKKLDPAQSASRENLLEEQGSIALRQEQIDNQTRITKEAGSVSLRMKQVEELYHSLLELG
  EKRKGMLEKSCKKFMLFREANELQQWINEKEAALTSEEVGADLEQVEVLQKKFDDFQKDL
  KANESRLKDINKVAEDLESEGLMAEEVQAVQQQEVYGMMPRDETDSKTASPWKSARLMVH
  TVATFNSIKELNERWRSLQQLAEERSQLLGSAHEVQRFHRDADETKEWIEEKNQALNTDN
  YGHDLASVQALQRKHEGFERDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQA
  WSSLGKRADQRKAKLGDSHDLQRFLSDFRDLMSWINGIRGLVSSDELAKDVTGAEALLER
  HQEHRTEIDARAGTFQAFEQFGQQLLAHGHYASPEIKQKLDILDQERADLEKAWVQRRMM
  LDQCLELQLFHRDCEQAENWMAAREAFLNTEDKGDSLDSVEALIKKHEDFDKAINVQEEK
  IAALQAFADQLIAAGHYAKGDISSRRNEVLDRWRRLKAQMIEKRSKLGESQTLQQFSRDV
  DEIEAWISEKLQTASDESYKDPTNIQSKHQKHQAFEAELHANADRIRGVIDMGNSLIERG
  ACAGSEDAVKARLAALADQWQFLVQKSAEKSQKLKEANKQQNFNTGIKDFDFWLSEVEAL
  LASEDYGKDLASVNNLLKKHQLLEADISAHEDRLKDLNSQADSLMTSSAFDTSQVKDKRD
  TINGRFQKIKSMAASRRAKLNESHRLHQFFRDMDDEESWIKEKKLLVGSEDYGRDLTGVQ
  NLRKKHKRLEAELAAHEPAIQGVLDTGKKLSDDNTIGKEEIQQRLAQFVEHWKELKQLAA
  ARGQRLEESLEYQQFVANVEEEEAWINEKMTLVASEDYGDTLAAIQGLLKKHEAFETDFT
  VHKDRVNDVCTNGQDLIKKNNHHEENISSKMKGLNGKVSDLEKAAAQRKAKLDENSAFLQ
  FNWKADVVESWIGEKENSLKTDDYGRDLSSVQTLLTKQETFDAGLQAFQQEGIANITALK
  DQLLAAKHVQSKAIEARHASLMKRWSQLLANSAARKKKLLEAQSHFRKVEDLFLTFAKKA
  SAFNSWFENAEEDLTDPVRCNSLEEIKALREAHDAFRSSLSSAQADFNQLAELDRQIKSF
  RVASNPYTWFTMEALEETWRNLQKIIKERELELQKEQRRQEENDKLRQEFAQHANAFHQW
  IQETRTYLLDGSCMVEESGTLESQLEATKRKHQEIRAMRSQLKKIEDLGAAMEEALILDN
  KYTEHSTVGLAQQWDQLDQLGMRMQHNLEQQIQARNTTGVTEEALKEFSMMFKHFDKDKS
  GRLNHQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRET
  ENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAF
  DYVEFTRSLFVN

• Sequence length: 2472

Pathways

KEGG:

Apoptosis
Cytoskeleton in muscle cells

Reactome:

Caspase-mediated cleavage of cytoskeletal proteins
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
Neutrophil degranulation
COPI-mediated anterograde transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Developmental regression	Developmental regression	rs1224421127
Epilepsy	Epilepsies, Partial, Epilepsy, Rolandic	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	29358611
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	20493457
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104	22196487, 18065176

Unknown
Disease term	Disease name	Evidence	References	Source
Infantile Spasms	infantile spasms			GenCC
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	24894543
Alcohol Related Disorders	Associate	29050398
Alopecia	Associate	35830358
Ataxia	Associate	35150594
Brain Diseases	Associate	22429196, 22722545, 29050398, 29986434
Cerebellar Ataxia	Associate	35150594
Cerebellar Diseases	Associate	29050398
Chromosomal Instability	Associate	19217883
Coloboma	Associate	22429196
Colorectal Neoplasms	Associate	24456667
Colorectal Neoplasms	Stimulate	30856214
Demyelinating Diseases	Associate	22429196, 22722545, 29050398
Developmental Disabilities	Associate	22429196
Dystonic Disorders	Associate	22722545
Epilepsy	Associate	22722545, 29050398, 29986434, 35150594
Epilepsy Post Traumatic	Associate	29188495
Glioblastoma	Associate	34067543
Glycogen Storage Disease 0 Muscle	Associate	35830358
Hyperpigmentation	Associate	35830358
Infantile Epileptic Dyskinetic Encephalopathy	Associate	29986434
Intellectual Disability	Associate	22722545, 29050398, 35150594
Leukemia Lymphoma Adult T Cell	Associate	23538341
Mental Disorders	Associate	29050398
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Microphthalmia Syndromic 10	Associate	22429196, 29050398
Neoplasm Metastasis	Associate	30856214
Neoplasms	Associate	24894543, 30856214
Neoplastic Syndromes Hereditary	Associate	35150594
Nervous System Diseases	Associate	29050398
Neurologic Manifestations	Associate	33847457
Paraplegia	Associate	35150594
Pontocerebellar Hypoplasia Type 1	Associate	29050398
Seizures	Associate	22429196
Sjogren's Syndrome	Associate	11313424
Spasms Infantile	Associate	21880993, 22429196, 22722545, 29050398
Spastic Ataxia	Associate	35150594
Trauma Nervous System	Associate	29986434
Vascular Diseases	Associate	22722545