ANK1 (ankyrin 1)

Gene

• Entrez ID: 286
• Gene name: Ankyrin 1
• Gene symbol: ANK1
• Synonyms (NCBI Gene): ANK, SPH1, SPH2, ankyrin-1
• Chromosome: 8
• Chromosome location: 8p11.21
• Summary: Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852829	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, intron variant
rs137852830	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs397514029	->G	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs750820522	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs777701149	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs786205243	C>T	Pathogenic	Intron variant, genic upstream transcript variant
rs786205244	ATGTGCAGGGCCGGGAGGCG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886042022	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1064795837	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554522035	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1554543126	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1554544862	TGGAACTTCCGGCGCCGGGG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1554567249	T>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1554578304	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1563502820	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1586072383	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1586114714	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1586144223	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1586145051	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1586412723	C>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT724155	hsa-miR-3617-5p	HITS-CLIP	19536157
MIRT724154	hsa-miR-641	HITS-CLIP	19536157
MIRT724153	hsa-miR-376c-3p	HITS-CLIP	19536157
MIRT724152	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724151	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT724150	hsa-miR-4635	HITS-CLIP	19536157
MIRT724149	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT724148	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724147	hsa-miR-1273e	HITS-CLIP	19536157
MIRT490335	hsa-miR-2392	PAR-CLIP	20371350
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	20371350
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT490331	hsa-miR-1204	PAR-CLIP	20371350
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT490329	hsa-miR-4534	PAR-CLIP	20371350
MIRT490328	hsa-miR-8082	PAR-CLIP	20371350
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT490326	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490323	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490321	hsa-miR-5698	PAR-CLIP	20371350
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490318	hsa-miR-4525	PAR-CLIP	20371350
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT490316	hsa-miR-663b	PAR-CLIP	20371350
MIRT490315	hsa-miR-1275	PAR-CLIP	20371350
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT490335	hsa-miR-2392	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	23592263
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT490331	hsa-miR-1204	PAR-CLIP	23592263
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT490329	hsa-miR-4534	PAR-CLIP	23592263
MIRT490328	hsa-miR-8082	PAR-CLIP	23592263
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT490326	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490323	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490321	hsa-miR-5698	PAR-CLIP	23592263
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490318	hsa-miR-4525	PAR-CLIP	23592263
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490316	hsa-miR-663b	PAR-CLIP	23592263
MIRT490315	hsa-miR-1275	PAR-CLIP	23592263
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484253	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT484251	hsa-miR-4457	PAR-CLIP	23592263
MIRT484250	hsa-miR-125b-2-3p	PAR-CLIP	23592263
MIRT484249	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT484247	hsa-miR-206	PAR-CLIP	23592263
MIRT484248	hsa-miR-613	PAR-CLIP	23592263
MIRT484246	hsa-miR-3689d	PAR-CLIP	23592263
MIRT484245	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT484244	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT484243	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT484242	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT484241	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT484240	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT484239	hsa-miR-513b-5p	PAR-CLIP	23592263
MIRT484250	hsa-miR-125b-2-3p	PAR-CLIP	27292025
MIRT484249	hsa-miR-1-3p	PAR-CLIP	27292025
MIRT484247	hsa-miR-206	PAR-CLIP	27292025
MIRT484246	hsa-miR-3689d	PAR-CLIP	27292025
MIRT484251	hsa-miR-4457	PAR-CLIP	27292025
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	27292025
MIRT484239	hsa-miR-513b-5p	PAR-CLIP	27292025
MIRT484240	hsa-miR-597-5p	PAR-CLIP	27292025
MIRT484248	hsa-miR-613	PAR-CLIP	27292025
MIRT484241	hsa-miR-6747-5p	PAR-CLIP	27292025
MIRT484244	hsa-miR-6752-5p	PAR-CLIP	27292025
MIRT484243	hsa-miR-6842-5p	PAR-CLIP	27292025
MIRT484245	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT484242	hsa-miR-7110-5p	PAR-CLIP	27292025
MIRT724155	hsa-miR-3617-5p	HITS-CLIP	19536157
MIRT724154	hsa-miR-641	HITS-CLIP	19536157
MIRT724153	hsa-miR-376c-3p	HITS-CLIP	19536157
MIRT724152	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724151	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT724150	hsa-miR-4635	HITS-CLIP	19536157
MIRT724149	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT724148	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724147	hsa-miR-1273e	HITS-CLIP	19536157
MIRT490335	hsa-miR-2392	PAR-CLIP	20371350
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	20371350
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT490331	hsa-miR-1204	PAR-CLIP	20371350
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT490329	hsa-miR-4534	PAR-CLIP	20371350
MIRT490328	hsa-miR-8082	PAR-CLIP	20371350
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT490326	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490323	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490321	hsa-miR-5698	PAR-CLIP	20371350
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490318	hsa-miR-4525	PAR-CLIP	20371350
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT490316	hsa-miR-663b	PAR-CLIP	20371350
MIRT490315	hsa-miR-1275	PAR-CLIP	20371350
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT490335	hsa-miR-2392	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	23592263
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT490331	hsa-miR-1204	PAR-CLIP	23592263
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT490329	hsa-miR-4534	PAR-CLIP	23592263
MIRT490328	hsa-miR-8082	PAR-CLIP	23592263
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT490326	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490323	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490321	hsa-miR-5698	PAR-CLIP	23592263
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490318	hsa-miR-4525	PAR-CLIP	23592263
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490316	hsa-miR-663b	PAR-CLIP	23592263
MIRT490315	hsa-miR-1275	PAR-CLIP	23592263
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484253	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT484251	hsa-miR-4457	PAR-CLIP	23592263
MIRT484250	hsa-miR-125b-2-3p	PAR-CLIP	23592263
MIRT484249	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT484247	hsa-miR-206	PAR-CLIP	23592263
MIRT484248	hsa-miR-613	PAR-CLIP	23592263
MIRT484246	hsa-miR-3689d	PAR-CLIP	23592263
MIRT484245	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT484244	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT484243	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT484242	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT484241	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT484240	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT484239	hsa-miR-513b-5p	PAR-CLIP	23592263
MIRT781571	hsa-miR-1254	CLIP-seq
MIRT781572	hsa-miR-2861	CLIP-seq
MIRT781573	hsa-miR-3116	CLIP-seq
MIRT781574	hsa-miR-4532	CLIP-seq
MIRT781575	hsa-miR-4743	CLIP-seq
MIRT781576	hsa-miR-4763-5p	CLIP-seq
MIRT781577	hsa-miR-4787-5p	CLIP-seq
MIRT781578	hsa-miR-661	CLIP-seq
MIRT781579	hsa-miR-1205	CLIP-seq
MIRT781571	hsa-miR-1254	CLIP-seq
MIRT781580	hsa-miR-1291	CLIP-seq
MIRT781581	hsa-miR-1293	CLIP-seq
MIRT781582	hsa-miR-2278	CLIP-seq
MIRT781583	hsa-miR-29a	CLIP-seq
MIRT781584	hsa-miR-29b	CLIP-seq
MIRT781585	hsa-miR-29c	CLIP-seq
MIRT781573	hsa-miR-3116	CLIP-seq
MIRT781586	hsa-miR-3183	CLIP-seq
MIRT781587	hsa-miR-3192	CLIP-seq
MIRT781588	hsa-miR-323-5p	CLIP-seq
MIRT781589	hsa-miR-326	CLIP-seq
MIRT781590	hsa-miR-328	CLIP-seq
MIRT781591	hsa-miR-330-5p	CLIP-seq
MIRT781592	hsa-miR-3663-3p	CLIP-seq
MIRT781593	hsa-miR-3690	CLIP-seq
MIRT781594	hsa-miR-378	CLIP-seq
MIRT781595	hsa-miR-378b	CLIP-seq
MIRT781596	hsa-miR-378c	CLIP-seq
MIRT781597	hsa-miR-378d	CLIP-seq
MIRT781598	hsa-miR-378e	CLIP-seq
MIRT781599	hsa-miR-378f	CLIP-seq
MIRT781600	hsa-miR-378h	CLIP-seq
MIRT781601	hsa-miR-378i	CLIP-seq
MIRT781602	hsa-miR-422a	CLIP-seq
MIRT781603	hsa-miR-4287	CLIP-seq
MIRT781604	hsa-miR-4292	CLIP-seq
MIRT781605	hsa-miR-4294	CLIP-seq
MIRT781606	hsa-miR-4314	CLIP-seq
MIRT781607	hsa-miR-4469	CLIP-seq
MIRT781608	hsa-miR-4483	CLIP-seq
MIRT781609	hsa-miR-4633-3p	CLIP-seq
MIRT781610	hsa-miR-4639-3p	CLIP-seq
MIRT781611	hsa-miR-4646-5p	CLIP-seq
MIRT781612	hsa-miR-4685-3p	CLIP-seq
MIRT781613	hsa-miR-4706	CLIP-seq
MIRT781614	hsa-miR-4707-3p	CLIP-seq
MIRT781615	hsa-miR-4723-3p	CLIP-seq
MIRT781616	hsa-miR-4725-5p	CLIP-seq
MIRT781617	hsa-miR-4734	CLIP-seq
MIRT781618	hsa-miR-4746-3p	CLIP-seq
MIRT781619	hsa-miR-4749-5p	CLIP-seq
MIRT781620	hsa-miR-504	CLIP-seq
MIRT781621	hsa-miR-516a-3p	CLIP-seq
MIRT781622	hsa-miR-516b	CLIP-seq
MIRT781623	hsa-miR-558	CLIP-seq
MIRT781624	hsa-miR-596	CLIP-seq
MIRT781625	hsa-miR-615-5p	CLIP-seq
MIRT781578	hsa-miR-661	CLIP-seq
MIRT781626	hsa-miR-744	CLIP-seq
MIRT781627	hsa-miR-1972	CLIP-seq
MIRT781628	hsa-miR-4420	CLIP-seq
MIRT781629	hsa-miR-4717-5p	CLIP-seq
MIRT781630	hsa-miR-4766-5p	CLIP-seq
MIRT1930691	hsa-miR-1323	CLIP-seq
MIRT1930692	hsa-miR-548o	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	9430667
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	8640229
GO:0005515	Function	Protein binding	IPI	379653, 12527750, 12719424, 16580865, 16962094, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	NAS	1833445
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	379653
GO:0005886	Component	Plasma membrane	NAS	9430667
GO:0006887	Process	Exocytosis	NAS	1833445
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IDA	18768923
GO:0007010	Process	Cytoskeleton organization	NAS	9430667
GO:0007165	Process	Signal transduction	IEA
GO:0008093	Function	Cytoskeletal anchor activity	IBA
GO:0008093	Function	Cytoskeletal anchor activity	IDA	379653
GO:0008093	Function	Cytoskeletal anchor activity	TAS	11427698
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	12354383
GO:0010638	Process	Positive regulation of organelle organization	IEA
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0014731	Component	Spectrin-associated cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	NAS	12409278
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019899	Function	Enzyme binding	IPI	21177872
GO:0019899	Function	Enzyme binding	TAS	11427698
GO:0019903	Function	Protein phosphatase binding	IPI	12354383
GO:0030018	Component	Z disc	IEA
GO:0030507	Function	Spectrin binding	IBA
GO:0030507	Function	Spectrin binding	IDA	379653, 12354383
GO:0030507	Function	Spectrin binding	IPI	8159688
GO:0030507	Function	Spectrin binding	NAS	8640229
GO:0030673	Component	Axolemma	IEA
GO:0031430	Component	M band	IEA
GO:0031672	Component	A band	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0045199	Process	Maintenance of epithelial cell apical/basal polarity	TAS	11427698
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048193	Process	Golgi vesicle transport	IEA
GO:0051117	Function	ATPase binding	IPI	8159688
GO:0071944	Component	Cell periphery	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IMP	18768923
GO:0170014	Component	Ankyrin-1 complex	IDA	35835865

Other IDs

• MIM: 612641
• HGNC: 492
• e!Ensembl: ENSG00000029534

Protein

• UniProt ID: P16157
• Protein name: Ankyrin-1 (ANK-1) (Ankyrin-R) (Erythrocyte ankyrin)
• Protein function: Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein
• PDB: 1N11, 2YQF, 2YVI, 3F59, 3KBT, 3KBU, 3UD1, 3UD2, 7TW3, 7TW5, 7TW6, 7UZQ, 7UZU, 7V0K, 7V0M, 7V0S, 7V0X, 8CS9, 8CSL, 8CSV, 8CTE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	77 → 109	Ankyrin repeat	Repeat
  PF00023	Ank	110 → 142	Ankyrin repeat	Repeat
  PF00023	Ank	205 → 235	Ankyrin repeat	Repeat
  PF00023	Ank	238 → 270	Ankyrin repeat	Repeat
  PF00023	Ank	271 → 303	Ankyrin repeat	Repeat
  PF00023	Ank	304 → 335	Ankyrin repeat	Repeat
  PF00023	Ank	337 → 368	Ankyrin repeat	Repeat
  PF00023	Ank	370 → 402	Ankyrin repeat	Repeat
  PF00023	Ank	403 → 435	Ankyrin repeat	Repeat
  PF00023	Ank	438 → 468	Ankyrin repeat	Repeat
  PF00023	Ank	469 → 501	Ankyrin repeat	Repeat
  PF00023	Ank	502 → 533	Ankyrin repeat	Repeat
  PF00023	Ank	535 → 567	Ankyrin repeat	Repeat
  PF00023	Ank	568 → 598	Ankyrin repeat	Repeat
  PF00023	Ank	601 → 633	Ankyrin repeat	Repeat
  PF00023	Ank	634 → 666	Ankyrin repeat	Repeat
  PF00023	Ank	700 → 732	Ankyrin repeat	Repeat
  PF00023	Ank	733 → 765	Ankyrin repeat	Repeat
  PF00791	ZU5	914 → 1012	ZU5 domain	Family
  PF17809	UPA_2	1236 → 1365	UPA domain	Domain
  PF00531	Death	1404 → 1486	Death domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain. {ECO:0000269|PubMed:9430667}.
• Sequence:

  MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKM
  VVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQ
  ENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIA
  ARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVAQLLLNRGASVNFTPQNGI
  TPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQA
  KTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDK
  GAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIV
  KNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARI
  GHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEKEASQACMTKKGFTPL
  HVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAW
  NGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQGVTPLHLAAQEGHAEMVALLLSKQAN
  GNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMVDATTRMGYTPLHVASHYGNIKLVKFL
  LQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTPLAIAKRLGYI
  SVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGEELISFKAERRDSRDVDEE
  KELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSD
  NISPVASPVHTGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLS
  TPPPLAEEEGLASRIIALGPTGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEH
  RSRYGESYLDQILNGMDEELGSLEELEKKRVCRIITTDFPLYFVIMSRLCQDYDTIGPEG
  GSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTKLLGNQATFSPIVTVEPRRRK
  FHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITGTTKLVYANEC
  ANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYC
  MTDDKVDKTLEQHENFVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRE
  NRLAMPVKVRDSSREPGGSLSFLRKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPT
  PLALRYSILSESTPGSLSGTEQAEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENP
  NSLLEQSVALLNLWVIREGQNANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHT
  DRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTM
  LEMSDMQVWSAGLTPSLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLEL
  VEDDTVDSDATNGLIDLLEQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQ
  ARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTE
  GLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGN
  EFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSE
  LEVDIDYFMKHSKDHTSTPNP

• Sequence length: 1881

Pathways

KEGG:

Proteoglycans in cancer

Reactome:

Interaction between L1 and Ankyrins
Neurofascin interactions
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
ANK1-related disorder	Pathogenic; Likely pathogenic	rs2150593517, rs137852831, rs397514029, rs2486915489, rs2487635534, rs35681783, rs2486900052, rs2486721298, rs2486748129, rs2486817571, rs2486967209, rs2486987573, rs2486768968, rs141844800, rs1818974494	RCV003416450 RCV003398399 RCV003415605 RCV003916392 RCV003395707 RCV003396992 RCV003410757 RCV003400209 RCV003399864 RCV003400079 RCV003408408 RCV003397803 RCV003909373 RCV003969073 RCV004727076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spherocytosis	Likely pathogenic	rs771419825	RCV003234637	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis type 1	Likely pathogenic; Pathogenic	rs2150563125, rs1172677213, rs2150596703, rs2150635565, rs2150661824, rs2150589601, rs2150589472, rs1187228917, rs2150616506, rs2150612966, rs2150605957, rs2150594434, rs2150593284, rs2150590331, rs2150612992, rs538989808, rs2150605978, rs2150652933, rs2150653010, rs2150594692, rs2150631832, rs2150586181, rs2150593517, rs2150597126, rs2150635459, rs749423708, rs2150602525, rs2150563078, rs2150641057, rs2150612978, rs2150597061, rs2150641017, rs2150661792, rs2150548107, rs1554567249, rs2150556792, rs2150580336, rs2150661848, rs1228535558, rs2150651762, rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs2487607030, rs2486739931, rs2487635203, rs2486928338, rs2486915489, rs2486913461, rs2486762991, rs2486962958, rs2487001985, rs2486923136, rs2486760881, rs2486737128, rs2486768700, rs2487637881, rs2150593275, rs2150593157, rs2486739996, rs2487036236, rs2486839062, rs376057905, rs2486943932, rs2486750606, rs2486997282, rs2486823536, rs2487605572, rs2486853907, rs2486899596, rs2486773149, rs2486773580, rs767398317, rs2486784042, rs1586167794, rs2487635534, rs868452063, rs1826989524, rs1819628292, rs1811286829, rs2487635721, rs2486986598, rs2486900824, rs2486768855, rs2486899883, rs2486822966, rs2487634896, rs2486869276, rs2486751066, rs2487638391, rs2486750826, rs2486763479, rs2486988302, rs2486729228, rs2487638331, rs2486987213, rs2487161140, rs2486913654, rs2487635140, rs2486763550, rs1376266690, rs2486737272, rs2486761002, rs2486748159, rs2486923005, rs2487636997, rs2486914467, rs2486721262, rs2486803720, rs2486838960, rs1821604564, rs771419825, rs2486748499, rs35681783, rs2487634907, rs2486923068, rs2486750189, rs2486776816, rs2486773436, rs2486944433, rs2486728629, rs2486817952, rs2486748136, rs2486759732, rs2486976789, rs1218976308, rs2486987938, rs769735016, rs2486823524, rs2487640420, rs2487605072, rs2487374176, rs2486997588, rs2486869082, rs2486750440, rs761708703, rs2486722467, rs2486842168, rs2487607275, rs2486773459, rs2486784451, rs2486721555, rs2486987392, rs2487161296, rs2487637471, rs2486933563, rs2486907364, rs2486987142, rs2486763402, rs2150621717, rs2486914036, rs867073059, rs2486785822, rs2486944833, rs2486794097, rs1827231890, rs2486750141, rs2486759656, rs2487001941, rs2486915070, rs2486899576, rs2487538167, rs2487605887, rs2486988534, rs2486962860, rs1554522035, rs777701149, rs1554578304, rs1586144223, rs1563502820, rs1586072383, rs750820522, rs1586145051, rs1586114714, rs774067157, rs2150563560, rs2150585752, rs2150635518, rs1818974494, rs1820512673, rs1822828039, rs747701761, rs1825406258, rs1829712320	RCV003136091 RCV001564049 RCV003132510 RCV005635166 RCV001728102 RCV001728103 RCV001728104 RCV001728105 RCV001728106 RCV001728107 RCV001728108 RCV001728109 RCV001728111 RCV001728112 RCV001731172 RCV001731173 RCV001783502 RCV001785923 RCV001785924 RCV001785925 RCV001785926 RCV001785927 RCV001785929 RCV001785931 RCV001785932 RCV001785933 RCV001785934 RCV001785935 RCV001803633 RCV001803645 RCV001802420 RCV001802572 RCV001802573 RCV001802703 RCV001802754 RCV001808148 RCV003130683 RCV005635298 RCV002291004 RCV003490972 RCV000000535 RCV000000538 RCV000000539 RCV000000540 RCV000655898 RCV002291007 RCV002291008 RCV002291009 RCV002291010 RCV002291011 RCV002291012 RCV002291013 RCV002291014 RCV002291020 RCV002291029 RCV002291048 RCV002291058 RCV002291062 RCV002291063 RCV002227334 RCV002269806 RCV003108002 RCV002283967 RCV005635490 RCV003491129 RCV005636619 RCV005254663 RCV005926815 RCV003120304 RCV003133711 RCV003133748 RCV003133778 RCV003131335 RCV003133876 RCV003133904 RCV003131405 RCV003134995 RCV003132022 RCV003132023 RCV003135000 RCV003135005 RCV003135006 RCV003131131 RCV003135640 RCV003131191 RCV003131202 RCV003135744 RCV003133660 RCV003133690 RCV003147255 RCV003143997 RCV003144028 RCV003144047 RCV003144058 RCV003143448 RCV003132667 RCV003130948 RCV003135305 RCV003130989 RCV003135354 RCV003131026 RCV003135414 RCV003135484 RCV003135524 RCV003133983 RCV003134014 RCV003134029 RCV003131467 RCV003131483 RCV003131515 RCV003134132 RCV003131547 RCV003131561 RCV003153016 RCV003234618 RCV005636882 RCV003236699 RCV003315123 RCV003330267 RCV003333334 RCV003388784 RCV003448530 RCV003448726 RCV003448775 RCV005636937 RCV005636946 RCV003490458 RCV003491437 RCV003489295 RCV003489296 RCV003489297 RCV003489298 RCV003489299 RCV003489300 RCV003489301 RCV003489302 RCV003489303 RCV003489304 RCV003489305 RCV003489306 RCV003489307 RCV003489308 RCV003489309 RCV003489310 RCV003489311 RCV003489312 RCV003489313 RCV003489314 RCV003489315 RCV003489316 RCV003489317 RCV003489318 RCV003489319 RCV003489320 RCV003489321 RCV003489322 RCV003489323 RCV003489324 RCV003489325 RCV003489326 RCV003494060 RCV003741359 RCV003741360 RCV005637002 RCV003741136 RCV003741143 RCV003741144 RCV003741146 RCV003741616 RCV003741617 RCV003991843 RCV000655896 RCV000655899 RCV000655897 RCV000655901 RCV003133585 RCV000755817 RCV001002452 RCV001002482 RCV001002400 RCV001029896 RCV001198178 RCV001250152 RCV001534605 RCV001534607 RCV001534606 RCV001286718 RCV001287319 RCV001287845 RCV001286935 RCV001286066 RCV001287819	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE	Likely pathogenic; Pathogenic	rs786205243, rs786205244	RCV000000542 RCV000000543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANEMIA, HEMOLYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONDUCTION SYSTEM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 62	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
8p11.2 deletion syndrome	8p11.2 deletion syndrome	ORPHANET_DG	22771917		★☆☆☆☆ Found in Text Mining only
8p11.2 deletion syndrome	8p11.2 deletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	31804702		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	25533034		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	14991527		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25129075, 25129077, 28700589, 30045751, 30898171, 32233750	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26611832		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	26830532		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anemia	Anemia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anemia Hemolytic	Hemolytic anemia	Pubtator	18704959	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	37697358	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	2139228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, hereditary spherocytic hemolytic	Anemia	ORPHANET_DG	23664421		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	10813297, 15899038		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	10894769, 17186460		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	15023384		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26039217		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35042901	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30262549		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17186460		★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	18728347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate arthropathy	Calcium pyrophosphate deposition	BEFREE	16462526		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	12297987, 16462526, 18034874, 27032788		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	19257826, 21149338, 24663682, 30356088		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31253192	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28965852		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis 2	Chondrocalcinosis	Pubtator	12483726	Associate	★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis 2	Chondrocalcinosis	Pubtator	24293574	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29478714		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35962343	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	20358596		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniometaphyseal Dysplasia Autosomal Dominant	Craniometaphyseal dysplasia	Pubtator	11326338	Associate	★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	11326338, 19257826, 21149338, 24663682, 30356088		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29476616		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27281024		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15023384, 16462526		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30439595		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25358061		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30907055	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25273842, 27353450, 29483669, 31123324, 32260174, 36693378	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22456796, 23457408, 27121283, 27353450, 28912869, 31123324		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22456796, 22885922, 24509480, 28869590, 30054458, 30595370, 30718926		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22456796, 22885922, 24509480		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	25533034		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	26830532		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28478727		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	25452614	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	37280519	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	11372755, 11527968, 11920837, 12432217, 12899723, 16518602, 17327413, 18704959, 21071415, 21099109, 21193012, 2141669, 22771917, 22968456, 26107955, 26830532, 28694211, 29099659, 29228571, 29348906, 29572776, 30227413, 30777044, 31016877, 31400153, 31602632, 31669644, 8640229, 9054656, 9470011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Hereditary Spherocytosis	LHGDN	17128827		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Hereditary Spherocytosis	ORPHANET_DG	23664421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Hereditary Spherocytosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Huntington Disease	Huntington Disease	BEFREE	30439595		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	10660265		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	24293574	Associate	★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29149168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25372418	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30629470		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31804702		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	22771917		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	35668409	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20656931		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25533034		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	30439595		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28965852		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28965852	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28965852		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27054339, 9989816		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	7970728		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25358061		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35631165	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36131282	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28965852		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30439595		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28965852		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35172717	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23571109	Associate	★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	21149338		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30439595		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35950872	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28674258		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28674258		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schwartz-Lelek syndrome	Craniometaphyseal dysplasia	BEFREE	16462526, 19257826, 20358596, 21149338		★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	12899723, 18704959, 21071415, 26107955, 29099659, 30777044, 31016877, 31122244, 31390973, 31602632, 32133777, 32436265, 33187473, 33620149, 35218326, 36336297, 36647015, 37246216, 37280519, 37385619, 39521890, 9054656, 9235914	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	12899723, 18704959, 35568031, 35668409, 9054656, 9067504	Associate	★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	UNIPROT_DG	11102985, 8640229		★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	11920837		★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	CLINVAR_DG	12899723, 17327413, 9590147		★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	GENOMICS_ENGLAND_DG	8640229, 9590147		★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	BEFREE	24603075		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31253192	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	31804702		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	7829057	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	8365666		★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	BEFREE	12899723		★☆☆☆☆ Found in Text Mining only