SLC9A2 (solute carrier family 9 member A2)

Gene

• Entrez ID: 6549
• Gene name: Solute carrier family 9 member A2
• Gene symbol: SLC9A2
• Synonyms (NCBI Gene): NHE2
• Chromosome: 2
• Chromosome location: 2q12.1
• Summary: This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The e

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051193	hsa-miR-16-5p	CLASH	23622248
MIRT1368586	hsa-miR-1183	CLIP-seq
MIRT1368587	hsa-miR-1226	CLIP-seq
MIRT1368588	hsa-miR-125a-3p	CLIP-seq
MIRT1368589	hsa-miR-1271	CLIP-seq
MIRT1368590	hsa-miR-127-5p	CLIP-seq
MIRT1368591	hsa-miR-130a	CLIP-seq
MIRT1368592	hsa-miR-130b	CLIP-seq
MIRT1368593	hsa-miR-138	CLIP-seq
MIRT1368594	hsa-miR-139-5p	CLIP-seq
MIRT1368595	hsa-miR-182	CLIP-seq
MIRT1368596	hsa-miR-19a	CLIP-seq
MIRT1368597	hsa-miR-19b	CLIP-seq
MIRT1368598	hsa-miR-2117	CLIP-seq
MIRT1368599	hsa-miR-23a	CLIP-seq
MIRT1368600	hsa-miR-23b	CLIP-seq
MIRT1368601	hsa-miR-23c	CLIP-seq
MIRT1368602	hsa-miR-25	CLIP-seq
MIRT1368603	hsa-miR-301a	CLIP-seq
MIRT1368604	hsa-miR-301b	CLIP-seq
MIRT1368605	hsa-miR-3065-5p	CLIP-seq
MIRT1368606	hsa-miR-3117-3p	CLIP-seq
MIRT1368607	hsa-miR-3121-5p	CLIP-seq
MIRT1368608	hsa-miR-3163	CLIP-seq
MIRT1368609	hsa-miR-3165	CLIP-seq
MIRT1368610	hsa-miR-3169	CLIP-seq
MIRT1368611	hsa-miR-3180-5p	CLIP-seq
MIRT1368612	hsa-miR-32	CLIP-seq
MIRT1368613	hsa-miR-324-5p	CLIP-seq
MIRT1368614	hsa-miR-3591-5p	CLIP-seq
MIRT1368615	hsa-miR-3622a-3p	CLIP-seq
MIRT1368616	hsa-miR-3622a-5p	CLIP-seq
MIRT1368617	hsa-miR-3622b-3p	CLIP-seq
MIRT1368618	hsa-miR-363	CLIP-seq
MIRT1368619	hsa-miR-3665	CLIP-seq
MIRT1368620	hsa-miR-3666	CLIP-seq
MIRT1368621	hsa-miR-367	CLIP-seq
MIRT1368622	hsa-miR-3689d	CLIP-seq
MIRT1368623	hsa-miR-371-3p	CLIP-seq
MIRT1368624	hsa-miR-371b-3p	CLIP-seq
MIRT1368625	hsa-miR-376a	CLIP-seq
MIRT1368626	hsa-miR-376b	CLIP-seq
MIRT1368627	hsa-miR-3935	CLIP-seq
MIRT1368628	hsa-miR-421	CLIP-seq
MIRT1368629	hsa-miR-4263	CLIP-seq
MIRT1368630	hsa-miR-4272	CLIP-seq
MIRT1368631	hsa-miR-4273	CLIP-seq
MIRT1368632	hsa-miR-4277	CLIP-seq
MIRT1368633	hsa-miR-4279	CLIP-seq
MIRT1368634	hsa-miR-4280	CLIP-seq
MIRT1368635	hsa-miR-4282	CLIP-seq
MIRT1368636	hsa-miR-4295	CLIP-seq
MIRT1368637	hsa-miR-4310	CLIP-seq
MIRT1368638	hsa-miR-4423-3p	CLIP-seq
MIRT1368639	hsa-miR-4432	CLIP-seq
MIRT1368640	hsa-miR-4456	CLIP-seq
MIRT1368641	hsa-miR-4473	CLIP-seq
MIRT1368642	hsa-miR-454	CLIP-seq
MIRT1368643	hsa-miR-4671-3p	CLIP-seq
MIRT1368644	hsa-miR-4724-5p	CLIP-seq
MIRT1368645	hsa-miR-4759	CLIP-seq
MIRT1368646	hsa-miR-4773	CLIP-seq
MIRT1368647	hsa-miR-4797-5p	CLIP-seq
MIRT1368648	hsa-miR-4803	CLIP-seq
MIRT1368649	hsa-miR-495	CLIP-seq
MIRT1368650	hsa-miR-499-5p	CLIP-seq
MIRT1368651	hsa-miR-501-5p	CLIP-seq
MIRT1368652	hsa-miR-502-5p	CLIP-seq
MIRT1368653	hsa-miR-515-3p	CLIP-seq
MIRT1368654	hsa-miR-516a-5p	CLIP-seq
MIRT1368655	hsa-miR-519e	CLIP-seq
MIRT1368656	hsa-miR-520a-5p	CLIP-seq
MIRT1368657	hsa-miR-525-5p	CLIP-seq
MIRT1368658	hsa-miR-539	CLIP-seq
MIRT1368659	hsa-miR-548aa	CLIP-seq
MIRT1368660	hsa-miR-548t	CLIP-seq
MIRT1368661	hsa-miR-616	CLIP-seq
MIRT1368662	hsa-miR-617	CLIP-seq
MIRT1368663	hsa-miR-634	CLIP-seq
MIRT1368664	hsa-miR-659	CLIP-seq
MIRT1368665	hsa-miR-9	CLIP-seq
MIRT1368666	hsa-miR-92a	CLIP-seq
MIRT1368667	hsa-miR-92b	CLIP-seq
MIRT1368668	hsa-miR-96	CLIP-seq
MIRT1553841	hsa-miR-4481	CLIP-seq
MIRT1553842	hsa-miR-4729	CLIP-seq
MIRT1553843	hsa-miR-4745-5p	CLIP-seq
MIRT1553844	hsa-miR-4758-5p	CLIP-seq
MIRT1553845	hsa-miR-4775	CLIP-seq
MIRT1553846	hsa-miR-579	CLIP-seq
MIRT1368586	hsa-miR-1183	CLIP-seq
MIRT2109572	hsa-miR-124	CLIP-seq
MIRT2109573	hsa-miR-1297	CLIP-seq
MIRT2109574	hsa-miR-1972	CLIP-seq
MIRT2109575	hsa-miR-200b	CLIP-seq
MIRT2109576	hsa-miR-200c	CLIP-seq
MIRT2109577	hsa-miR-2115	CLIP-seq
MIRT1368598	hsa-miR-2117	CLIP-seq
MIRT2109578	hsa-miR-26a	CLIP-seq
MIRT2109579	hsa-miR-26b	CLIP-seq
MIRT1368607	hsa-miR-3121-5p	CLIP-seq
MIRT2109580	hsa-miR-3140-3p	CLIP-seq
MIRT2109581	hsa-miR-3152-3p	CLIP-seq
MIRT2109582	hsa-miR-3170	CLIP-seq
MIRT2109583	hsa-miR-323-3p	CLIP-seq
MIRT1368613	hsa-miR-324-5p	CLIP-seq
MIRT1368616	hsa-miR-3622a-5p	CLIP-seq
MIRT2109584	hsa-miR-369-3p	CLIP-seq
MIRT2109585	hsa-miR-3920	CLIP-seq
MIRT2109586	hsa-miR-3942-3p	CLIP-seq
MIRT2109587	hsa-miR-412	CLIP-seq
MIRT2109588	hsa-miR-4260	CLIP-seq
MIRT1368631	hsa-miR-4273	CLIP-seq
MIRT1368633	hsa-miR-4279	CLIP-seq
MIRT2109589	hsa-miR-429	CLIP-seq
MIRT1368638	hsa-miR-4423-3p	CLIP-seq
MIRT2109590	hsa-miR-4465	CLIP-seq
MIRT2109591	hsa-miR-4484	CLIP-seq
MIRT2109592	hsa-miR-4650-5p	CLIP-seq
MIRT1368643	hsa-miR-4671-3p	CLIP-seq
MIRT2109593	hsa-miR-498	CLIP-seq
MIRT1368651	hsa-miR-501-5p	CLIP-seq
MIRT2109594	hsa-miR-506	CLIP-seq
MIRT2109595	hsa-miR-548an	CLIP-seq
MIRT2332701	hsa-miR-106a	CLIP-seq
MIRT2332702	hsa-miR-106b	CLIP-seq
MIRT2332703	hsa-miR-1178	CLIP-seq
MIRT1368586	hsa-miR-1183	CLIP-seq
MIRT2332704	hsa-miR-1185	CLIP-seq
MIRT2332705	hsa-miR-1200	CLIP-seq
MIRT2332706	hsa-miR-1208	CLIP-seq
MIRT2332707	hsa-miR-1231	CLIP-seq
MIRT2332708	hsa-miR-1237	CLIP-seq
MIRT2109572	hsa-miR-124	CLIP-seq
MIRT2332709	hsa-miR-1244	CLIP-seq
MIRT2332710	hsa-miR-1246	CLIP-seq
MIRT2332711	hsa-miR-1248	CLIP-seq
MIRT2332712	hsa-miR-1249	CLIP-seq
MIRT1368590	hsa-miR-127-5p	CLIP-seq
MIRT2332713	hsa-miR-1290	CLIP-seq
MIRT2332714	hsa-miR-1291	CLIP-seq
MIRT2109573	hsa-miR-1297	CLIP-seq
MIRT1368593	hsa-miR-138	CLIP-seq
MIRT2332715	hsa-miR-140-3p	CLIP-seq
MIRT2332716	hsa-miR-146b-3p	CLIP-seq
MIRT2332717	hsa-miR-151-3p	CLIP-seq
MIRT2332718	hsa-miR-17	CLIP-seq
MIRT2332719	hsa-miR-188-3p	CLIP-seq
MIRT2109574	hsa-miR-1972	CLIP-seq
MIRT2332720	hsa-miR-199a-3p	CLIP-seq
MIRT2332721	hsa-miR-199b-3p	CLIP-seq
MIRT1368596	hsa-miR-19a	CLIP-seq
MIRT1368597	hsa-miR-19b	CLIP-seq
MIRT2109575	hsa-miR-200b	CLIP-seq
MIRT2109576	hsa-miR-200c	CLIP-seq
MIRT2332722	hsa-miR-20a	CLIP-seq
MIRT2332723	hsa-miR-20b	CLIP-seq
MIRT2109577	hsa-miR-2115	CLIP-seq
MIRT1368598	hsa-miR-2117	CLIP-seq
MIRT1368602	hsa-miR-25	CLIP-seq
MIRT2109578	hsa-miR-26a	CLIP-seq
MIRT2109579	hsa-miR-26b	CLIP-seq
MIRT2332724	hsa-miR-302a	CLIP-seq
MIRT2332725	hsa-miR-302b	CLIP-seq
MIRT2332726	hsa-miR-302c	CLIP-seq
MIRT2332727	hsa-miR-302d	CLIP-seq
MIRT2332728	hsa-miR-302e	CLIP-seq
MIRT1368606	hsa-miR-3117-3p	CLIP-seq
MIRT1368607	hsa-miR-3121-5p	CLIP-seq
MIRT2332729	hsa-miR-3125	CLIP-seq
MIRT2332730	hsa-miR-3129-5p	CLIP-seq
MIRT2332731	hsa-miR-3140-5p	CLIP-seq
MIRT2332732	hsa-miR-3153	CLIP-seq
MIRT2332733	hsa-miR-3154	CLIP-seq
MIRT1368609	hsa-miR-3165	CLIP-seq
MIRT1368610	hsa-miR-3169	CLIP-seq
MIRT2109582	hsa-miR-3170	CLIP-seq
MIRT2332734	hsa-miR-3173-5p	CLIP-seq
MIRT2332735	hsa-miR-3179	CLIP-seq
MIRT1368612	hsa-miR-32	CLIP-seq
MIRT2332736	hsa-miR-320a	CLIP-seq
MIRT2332737	hsa-miR-320b	CLIP-seq
MIRT2332738	hsa-miR-320c	CLIP-seq
MIRT2332739	hsa-miR-320d	CLIP-seq
MIRT2109583	hsa-miR-323-3p	CLIP-seq
MIRT1368613	hsa-miR-324-5p	CLIP-seq
MIRT2332740	hsa-miR-328	CLIP-seq
MIRT2332741	hsa-miR-331-3p	CLIP-seq
MIRT1368614	hsa-miR-3591-5p	CLIP-seq
MIRT2332742	hsa-miR-3605-5p	CLIP-seq
MIRT1368615	hsa-miR-3622a-3p	CLIP-seq
MIRT1368616	hsa-miR-3622a-5p	CLIP-seq
MIRT1368617	hsa-miR-3622b-3p	CLIP-seq
MIRT2332743	hsa-miR-3622b-5p	CLIP-seq
MIRT1368618	hsa-miR-363	CLIP-seq
MIRT2332744	hsa-miR-3647-3p	CLIP-seq
MIRT1368621	hsa-miR-367	CLIP-seq
MIRT2332745	hsa-miR-3679-5p	CLIP-seq
MIRT1368622	hsa-miR-3689d	CLIP-seq
MIRT2109584	hsa-miR-369-3p	CLIP-seq
MIRT1368623	hsa-miR-371-3p	CLIP-seq
MIRT1368624	hsa-miR-371b-3p	CLIP-seq
MIRT2332746	hsa-miR-372	CLIP-seq
MIRT2332747	hsa-miR-373	CLIP-seq
MIRT2332748	hsa-miR-382	CLIP-seq
MIRT2332749	hsa-miR-3916	CLIP-seq
MIRT2109585	hsa-miR-3920	CLIP-seq
MIRT2332750	hsa-miR-3928	CLIP-seq
MIRT2332751	hsa-miR-3936	CLIP-seq
MIRT2109586	hsa-miR-3942-3p	CLIP-seq
MIRT2332752	hsa-miR-411	CLIP-seq
MIRT2109587	hsa-miR-412	CLIP-seq
MIRT2109588	hsa-miR-4260	CLIP-seq
MIRT2332753	hsa-miR-4264	CLIP-seq
MIRT1368631	hsa-miR-4273	CLIP-seq
MIRT2332754	hsa-miR-4276	CLIP-seq
MIRT1368633	hsa-miR-4279	CLIP-seq
MIRT1368635	hsa-miR-4282	CLIP-seq
MIRT2109589	hsa-miR-429	CLIP-seq
MIRT2332755	hsa-miR-4290	CLIP-seq
MIRT2332756	hsa-miR-4292	CLIP-seq
MIRT1368637	hsa-miR-4310	CLIP-seq
MIRT2332757	hsa-miR-4320	CLIP-seq
MIRT1368638	hsa-miR-4423-3p	CLIP-seq
MIRT2332758	hsa-miR-4427	CLIP-seq
MIRT2332759	hsa-miR-4429	CLIP-seq
MIRT2332760	hsa-miR-4434	CLIP-seq
MIRT2332761	hsa-miR-4436b-5p	CLIP-seq
MIRT2332762	hsa-miR-4445	CLIP-seq
MIRT1368640	hsa-miR-4456	CLIP-seq
MIRT2109590	hsa-miR-4465	CLIP-seq
MIRT1368641	hsa-miR-4473	CLIP-seq
MIRT2109591	hsa-miR-4484	CLIP-seq
MIRT2332763	hsa-miR-4516	CLIP-seq
MIRT2332764	hsa-miR-4531	CLIP-seq
MIRT2332765	hsa-miR-4646-5p	CLIP-seq
MIRT2109592	hsa-miR-4650-5p	CLIP-seq
MIRT2332766	hsa-miR-4663	CLIP-seq
MIRT2332767	hsa-miR-4668-5p	CLIP-seq
MIRT1368643	hsa-miR-4671-3p	CLIP-seq
MIRT2332768	hsa-miR-4684-3p	CLIP-seq
MIRT2332769	hsa-miR-4711-5p	CLIP-seq
MIRT1553842	hsa-miR-4729	CLIP-seq
MIRT2332770	hsa-miR-4757-3p	CLIP-seq
MIRT1368645	hsa-miR-4759	CLIP-seq
MIRT2332771	hsa-miR-4760-5p	CLIP-seq
MIRT2332772	hsa-miR-4786-3p	CLIP-seq
MIRT2332773	hsa-miR-4789-5p	CLIP-seq
MIRT2332774	hsa-miR-4797-3p	CLIP-seq
MIRT2332775	hsa-miR-4802-3p	CLIP-seq
MIRT1368648	hsa-miR-4803	CLIP-seq
MIRT2109593	hsa-miR-498	CLIP-seq
MIRT1368651	hsa-miR-501-5p	CLIP-seq
MIRT2109594	hsa-miR-506	CLIP-seq
MIRT1368653	hsa-miR-515-3p	CLIP-seq
MIRT2332776	hsa-miR-515-5p	CLIP-seq
MIRT2332777	hsa-miR-516a-3p	CLIP-seq
MIRT1368654	hsa-miR-516a-5p	CLIP-seq
MIRT2332778	hsa-miR-519d	CLIP-seq
MIRT1368655	hsa-miR-519e	CLIP-seq
MIRT2332779	hsa-miR-520a-3p	CLIP-seq
MIRT2332780	hsa-miR-520b	CLIP-seq
MIRT2332781	hsa-miR-520c-3p	CLIP-seq
MIRT2332782	hsa-miR-520d-3p	CLIP-seq
MIRT2332783	hsa-miR-520e	CLIP-seq
MIRT2332784	hsa-miR-520f	CLIP-seq
MIRT2332785	hsa-miR-520g	CLIP-seq
MIRT2332786	hsa-miR-520h	CLIP-seq
MIRT2332787	hsa-miR-532-3p	CLIP-seq
MIRT2332788	hsa-miR-544	CLIP-seq
MIRT1368659	hsa-miR-548aa	CLIP-seq
MIRT2332789	hsa-miR-548ac	CLIP-seq
MIRT2332790	hsa-miR-548ae	CLIP-seq
MIRT2332791	hsa-miR-548aj	CLIP-seq
MIRT2332792	hsa-miR-548am	CLIP-seq
MIRT2109595	hsa-miR-548an	CLIP-seq
MIRT2332793	hsa-miR-548d-3p	CLIP-seq
MIRT2332794	hsa-miR-548x	CLIP-seq
MIRT2332795	hsa-miR-548z	CLIP-seq
MIRT2332796	hsa-miR-576-3p	CLIP-seq
MIRT1368661	hsa-miR-616	CLIP-seq
MIRT2332797	hsa-miR-656	CLIP-seq
MIRT2332798	hsa-miR-663b	CLIP-seq
MIRT2332799	hsa-miR-759	CLIP-seq
MIRT2332800	hsa-miR-764	CLIP-seq
MIRT2332801	hsa-miR-874	CLIP-seq
MIRT1368666	hsa-miR-92a	CLIP-seq
MIRT1368667	hsa-miR-92b	CLIP-seq
MIRT2332802	hsa-miR-93	CLIP-seq
MIRT2332803	hsa-miR-936	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CDX2	Unknown	11254504
EP300	Unknown	11254504
MYOD1	Unknown	11254504
NFKB1	Unknown	11254504
RELA	Unknown	11254504
SP1	Unknown	11254504;17561809
SP3	Unknown	17561809

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006885	Process	Regulation of pH	IEA
GO:0006885	Process	Regulation of pH	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IBA
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	TAS	7683411
GO:0015386	Function	Potassium:proton antiporter activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7683411
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0051453	Process	Regulation of intracellular pH	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0098719	Process	Sodium ion import across plasma membrane	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 600530
• HGNC: 11072
• e!Ensembl: ENSG00000115616

Protein

• UniProt ID: Q9UBY0
• Protein name: Sodium/hydrogen exchanger 2 (Na(+)/H(+) exchanger 2) (NHE-2) (Solute carrier family 9 member 2)
• Protein function: Plasma membrane Na(+)/H(+) antiporter. Mediates the electroneutral exchange of intracellular H(+) ions for extracellular Na(+) (PubMed:10444453). Major apical Na(+)/H(+) exchanger in the base of the colonic crypt. Controls in the colonic crypt i
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00999	Na_H_Exchanger	84 → 485	Sodium/hydrogen exchanger family	Family
  PF16644	NEXCaM_BD	575 → 684	Regulatory region of Na+/H+ exchanger NHE binds to calmodulin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle, colon and kidney. Lower levels in the testis, prostate, ovary, and small intestine (PubMed:10444453, PubMed:8843774). In the distal colon, expressed along the cryptal axis (PubMed:8843774). {ECO:0000269|Pu
• Sequence:

  MEPLGNWRSLRAPLPPMLLLLLLQVAGPVGALAETLLNAPRAMGTSSSPPSPASVVAPGT
  TLFEESRLPVFTLDYPHVQIPFEITLWILLASLAKIGFHLYHKLPTIVPESCLLIMVGLL
  LGGIIFGVDEKSPPAMKTDVFFLYLLPPIVLDAGYFMPTRPFFENIGTIFWYAVVGTLWN
  SIGIGVSLFGICQIEAFGLSDITLLQNLLFGSLISAVDPVAVLAVFENIHVNEQLYILVF
  GESLLNDAVTVVLYNLFKSFCQMKTIETIDVFAGIANFFVVGIGGVLIGIFLGFIAAFTT
  RFTHNIRVIEPLFVFLYSYLSYITAEMFHLSGIMAITACAMTMNKYVEENVSQKSYTTIK
  YFMKMLSSVSETLIFIFMGVSTVGKNHEWNWAFVCFTLAFCLMWRALGVFVLTQVINRFR
  TIPLTFKDQFIIAYGGLRGAICFALVFLLPAAVFPRKKLFITAAIVVIFFTVFILGITIR
  PLVEFLDVKRSNKKQQAVSEEIYCRLFDHVKTGIEDVCGHWGHNFWRDKFKKFDDKYLRK
  LLIRENQPKSSIVSLYKKLEIKHAIEMAETGMISTVPTFASLNDCREEKIRKVTSSETDE
  IRELLSRNLYQIRQRTLSYNRHSLTADTSERQAKEILIRRRHSLRESIRKDSSLNREHRA
  STSTSRYLSLPKNTKLPEKLQKRRTISIADGNSSDSDADAGTTVLNLQPRARRFLPEQFS
  KKSPQSYKMEWKNEVDVDSGRDMPSTPPTPHSREKGTQTSGLLQQPLLSKDQSGSEREDS
  LTEGIPPKPPPRLVWRASEPGSRKARFGSEKP

• Sequence length: 812

Pathways

Reactome:

Sodium/Proton exchangers

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute megakaryoblastic leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ascending aortic dissection	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION, ASCENDING AORTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mediastinal germ cell tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	LHGDN	19056765		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	18845559, 21969813	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28493993		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	BEFREE	11113072		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28493993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32241263	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	12542207		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36978087	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	20176027	Associate	★☆☆☆☆ Found in Text Mining only