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
• 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:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	2307671
GO:0005200	Function	Structural constituent of cytoskeleton	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, 29961565, 30021884, 31413325, 35271311
GO:0005516	Function	Calmodulin binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0008091	Component	Spectrin	TAS	2307671
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	TAS	2307671
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0042995	Component	Cell projection	IBA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
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

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
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1131691643	RCV001258010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1853049371, rs2131088567, rs2131744077, rs2131239154, rs2132090668, rs2132105386, rs2131965427, rs2131012464, rs2131952314, rs2131193011, rs2131360489, rs2131028639, rs587784438, rs587784440, rs1554768992, rs2542169047, rs2540898617, rs2542385486, rs2542397448, rs2541452695, rs2542380807, rs2541541908, rs1352409938, rs2541136016, rs767067922, rs2541118749, rs2541940200, rs2541951817, rs2542381089, rs886063501, rs1193718145, rs1554769099, rs1589416130, rs1589393179, rs1852152679, rs1853919580, rs1858669268, rs1856647848, rs1852112548, rs1859912470, rs1859859572, rs1851359623	RCV001341404 RCV001361907 RCV001379812 RCV001907191 RCV001930448 RCV001976101 RCV002030742 RCV001911399 RCV001880471 RCV002023377 RCV001975039 RCV002040820 RCV001236667 RCV000696609 RCV001852513 RCV001231695 RCV002861659 RCV002867610 RCV003012286 RCV003045815 RCV003026752 RCV003053514 RCV003066266 RCV003777418 RCV003589502 RCV003589730 RCV003590854 RCV003589352 RCV003753440 RCV003754767 RCV003589571 RCV000636277 RCV000636363 RCV000803395 RCV003753158 RCV001041069 RCV001046158 RCV001047956 RCV001224500 RCV001232789 RCV001244065 RCV001880161 RCV001302647	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 5	Likely pathogenic; Pathogenic	rs1856289676, rs1851109762, rs2131985621, rs2132088836, rs796053334, rs2130975930, rs2131012797, rs2131011877, rs2131030804, rs2132089818, rs587784438, rs587784440, rs2132106592, rs2542380737, rs1554767335, rs796053327, rs1554768992, rs796053335, rs2541952847, rs2541012589, rs2541398728, rs2540899815, rs2131317641, rs2541133807, rs1131691643, rs1554769022, rs398122865, rs1564197227, rs1564286708, rs1589393179, rs1589311413, rs1858669268, rs1856640613, rs1859859572, rs1856116625	RCV001328004 RCV001375988 RCV001785330 RCV001785331 RCV001785332 RCV001785333 RCV001785334 RCV001814606 RCV002221822 RCV002246741 RCV000147650 RCV000147656 RCV002276477 RCV002468868 RCV001548760 RCV001542587 RCV001781558 RCV002510568 RCV001195886 RCV003333522 RCV004784147 RCV003984937 RCV003991262 RCV003991361 RCV003992646 RCV001257087 RCV000504027 RCV000029155 RCV000767382 RCV000779644 RCV000824688 RCV000984874 RCV003336289 RCV001253713 RCV001780223 RCV001290348	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay with or without epilepsy	Likely pathogenic; Pathogenic	rs2131012797, rs587784440, rs2541012589	RCV003336434 RCV003335186 RCV003391174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal lower limb muscle weakness	Likely pathogenic	rs1851867365	RCV001328478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs796053335	RCV000416988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal epilepsy	Likely pathogenic; Pathogenic	rs587784440	RCV000416957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs2131938862	RCV004785300	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs2541012589	RCV005245549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2541941372	RCV003389165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant 11	Likely pathogenic; Pathogenic	rs1851109762, rs2131635386, rs2542207780, rs2541012589, rs2541454325	RCV003333159 RCV003330353 RCV003330354 RCV003391174 RCV003445294	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic	rs2131341713	RCV001849840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1554759745, rs1441152520	RCV000656026 RCV000656027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs1856600618	RCV001647145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	Likely pathogenic; Pathogenic	rs1858669268	RCV003336290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPTAN1-related disorder	Likely pathogenic; Pathogenic	rs587784438, rs587784440, rs2542169047, rs2131164463, rs2541157238, rs1131691643	RCV004551284 RCV004551285 RCV005230049 RCV004548372 RCV004554098 RCV004552407 RCV004551619	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Undetermined early-onset epileptic encephalopathy	Likely pathogenic; Pathogenic	rs587784440	RCV001249449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal brain morphology	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral tonic-clonic seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JEUNE THORACIC DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Landau-Kleffner syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Werdnig-Hoffmann disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1696273		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	23538341		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	35150594	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12673889		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	31515523		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	22258530, 22429196, 22656320, 29050398		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22429196, 22722545, 29050398, 29986434	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	35150594	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29050398	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	22258530, 22429196, 22656320, 29050398		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	19217883	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	22429196	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24456667		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24456667, 30856214		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24456667	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30856214	Stimulate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31064843		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	25015659		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	25015659		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	22429196, 22722545, 29050398	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22429196	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
Early myoclonic encephalopathy	Myoclonic Encephalopathy	BEFREE	25779878		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25631096, 29050398, 30548380		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	22722545, 29050398, 29986434, 35150594	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29050398, 30548380		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25631096, 29337302, 29897043		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	20493457		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5	Epileptic encephalopathy	BEFREE	29337302		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	LHGDN	12893251, 16889989, 19102630		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29557213		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	29557213		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34067543	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	35830358	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31064843		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	31515523		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	21880993, 22258530		★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22258530		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22722545, 29050398, 35150594	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	29025591		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	23538341		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12673889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12127692		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24456667, 30856214, 31186638		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24456667		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25631096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	19428688		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19428688		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	14657555		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	14657555		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29897043		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	15948206		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30856214, 31186638		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	29050398	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31064843		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	25015659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	Pubtator	35150594	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	31332438		★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	29050398	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10402491		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22429196	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	25631096		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11313424	Associate	★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	21880993, 22429196, 22722545, 29050398	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	35150594	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12127692		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30190542		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30548380		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	ORPHANET_DG	18065176, 22196487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	BEFREE	20493457, 21880993, 22258530, 22656320, 25631096, 29050398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked infantile spasms	Spasms X-Linked	BEFREE	22722545		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only