NHS (NHS actin remodeling regulator)

Gene

• Entrez ID: 4810
• Gene name: NHS actin remodeling regulator
• Gene symbol: NHS
• Synonyms (NCBI Gene): CTRCT40, CXN, SCML1
• Chromosome: X
• Chromosome location: Xp22.2-p22.13
• Summary: This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41304731	G>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs104894881	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs111534978	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs132630322	C>T	Pathogenic	Coding sequence variant, stop gained
rs143119491	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs145005596	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs200952266	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs398124608	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124610	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs398124611	G>A	Pathogenic	Stop gained, coding sequence variant
rs727504040	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs727504044	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205255	->C	Pathogenic	Frameshift variant, coding sequence variant
rs786205256	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205257	A>G	Pathogenic	Splice acceptor variant
rs786205677	G>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant
rs864309679	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs875989805	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1064795101	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1341004065	G>A,T	Pathogenic	Genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs1481421967	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555981408	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555981433	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556030707	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, splice donor variant
rs1556037290	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556038028	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556038232	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556038355	GACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556038653	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556038952	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556039406	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556039548	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556039901	A>T	Pathogenic	Stop gained, coding sequence variant
rs1569310232	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569310288	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569319773	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601838818	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1601859570	AACTC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT571665	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT229478	hsa-miR-548n	PAR-CLIP	20371350
MIRT229483	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT229479	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT565898	hsa-miR-548u	PAR-CLIP	20371350
MIRT565896	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT565897	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT565895	hsa-miR-548ab	PAR-CLIP	20371350
MIRT565894	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT565893	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT565892	hsa-miR-548ak	PAR-CLIP	20371350
MIRT565891	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT565890	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT565888	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT565889	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT565887	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT565886	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT565885	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT565884	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT565883	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT565882	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT565881	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT565879	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT565880	hsa-miR-548i	PAR-CLIP	20371350
MIRT565878	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT565877	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT565876	hsa-miR-548w	PAR-CLIP	20371350
MIRT565875	hsa-miR-548y	PAR-CLIP	20371350
MIRT565874	hsa-miR-559	PAR-CLIP	20371350
MIRT565873	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT326891	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT565872	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT565871	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT565870	hsa-miR-5692b	PAR-CLIP	20371350
MIRT565869	hsa-miR-5692c	PAR-CLIP	20371350
MIRT565868	hsa-miR-6076	PAR-CLIP	20371350
MIRT565867	hsa-miR-6797-3p	PAR-CLIP	20371350
MIRT326893	hsa-miR-4775	PAR-CLIP	20371350
MIRT565866	hsa-miR-5011-3p	PAR-CLIP	20371350
MIRT565865	hsa-miR-4666b	PAR-CLIP	20371350
MIRT565864	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT565862	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT565863	hsa-miR-578	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT565857	hsa-miR-1257	PAR-CLIP	20371350
MIRT565858	hsa-miR-3671	PAR-CLIP	20371350
MIRT565856	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT565855	hsa-miR-147a	PAR-CLIP	20371350
MIRT565854	hsa-miR-607	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	20371350
MIRT546537	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565853	hsa-miR-580-5p	PAR-CLIP	20371350
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT565852	hsa-miR-4470	PAR-CLIP	20371350
MIRT546534	hsa-miR-3909	PAR-CLIP	20371350
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	21572407
MIRT546537	hsa-miR-382-5p	PAR-CLIP	21572407
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT546534	hsa-miR-3909	PAR-CLIP	21572407
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	21572407
MIRT504002	hsa-miR-5692a	PAR-CLIP	23446348
MIRT504001	hsa-miR-651-3p	PAR-CLIP	23446348
MIRT504000	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT503999	hsa-miR-8076	PAR-CLIP	23446348
MIRT503998	hsa-miR-889-5p	PAR-CLIP	23446348
MIRT503997	hsa-miR-135a-5p	PAR-CLIP	23446348
MIRT503996	hsa-miR-135b-5p	PAR-CLIP	23446348
MIRT501272	hsa-miR-24-3p	PAR-CLIP	24398324
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501270	hsa-miR-6165	PAR-CLIP	24398324
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	24398324
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	24398324
MIRT501267	hsa-miR-3159	PAR-CLIP	24398324
MIRT501266	hsa-miR-4284	PAR-CLIP	24398324
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	24398324
MIRT501264	hsa-miR-4503	PAR-CLIP	24398324
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	23708386
MIRT443186	hsa-miR-153-5p	PAR-CLIP	23708386
MIRT443185	hsa-miR-9-3p	PAR-CLIP	23708386
MIRT443184	hsa-miR-4477a	PAR-CLIP	23708386
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	22100165
MIRT443186	hsa-miR-153-5p	PAR-CLIP	22100165
MIRT443185	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT443184	hsa-miR-4477a	PAR-CLIP	22100165
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT571665	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT229478	hsa-miR-548n	PAR-CLIP	20371350
MIRT229483	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT229479	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT565898	hsa-miR-548u	PAR-CLIP	20371350
MIRT565896	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT565897	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT565895	hsa-miR-548ab	PAR-CLIP	20371350
MIRT565894	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT565893	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT565892	hsa-miR-548ak	PAR-CLIP	20371350
MIRT565891	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT565890	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT565888	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT565889	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT565887	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT565886	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT565885	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT565884	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT565883	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT565882	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT565881	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT565879	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT565880	hsa-miR-548i	PAR-CLIP	20371350
MIRT565878	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT565877	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT565876	hsa-miR-548w	PAR-CLIP	20371350
MIRT565875	hsa-miR-548y	PAR-CLIP	20371350
MIRT565874	hsa-miR-559	PAR-CLIP	20371350
MIRT565873	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT326891	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT565872	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT565871	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT565870	hsa-miR-5692b	PAR-CLIP	20371350
MIRT565869	hsa-miR-5692c	PAR-CLIP	20371350
MIRT565868	hsa-miR-6076	PAR-CLIP	20371350
MIRT565867	hsa-miR-6797-3p	PAR-CLIP	20371350
MIRT326893	hsa-miR-4775	PAR-CLIP	20371350
MIRT565866	hsa-miR-5011-3p	PAR-CLIP	20371350
MIRT565865	hsa-miR-4666b	PAR-CLIP	20371350
MIRT565864	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT565862	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT565863	hsa-miR-578	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT565857	hsa-miR-1257	PAR-CLIP	20371350
MIRT565858	hsa-miR-3671	PAR-CLIP	20371350
MIRT565856	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT565855	hsa-miR-147a	PAR-CLIP	20371350
MIRT565854	hsa-miR-607	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	20371350
MIRT546537	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565853	hsa-miR-580-5p	PAR-CLIP	20371350
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT565852	hsa-miR-4470	PAR-CLIP	20371350
MIRT546534	hsa-miR-3909	PAR-CLIP	20371350
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	21572407
MIRT546537	hsa-miR-382-5p	PAR-CLIP	21572407
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT546534	hsa-miR-3909	PAR-CLIP	21572407
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	21572407
MIRT504002	hsa-miR-5692a	PAR-CLIP	23446348
MIRT504001	hsa-miR-651-3p	PAR-CLIP	23446348
MIRT504000	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT503999	hsa-miR-8076	PAR-CLIP	23446348
MIRT503998	hsa-miR-889-5p	PAR-CLIP	23446348
MIRT503997	hsa-miR-135a-5p	PAR-CLIP	23446348
MIRT503996	hsa-miR-135b-5p	PAR-CLIP	23446348
MIRT501272	hsa-miR-24-3p	PAR-CLIP	24398324
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501270	hsa-miR-6165	PAR-CLIP	24398324
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	24398324
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	24398324
MIRT501267	hsa-miR-3159	PAR-CLIP	24398324
MIRT501266	hsa-miR-4284	PAR-CLIP	24398324
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	24398324
MIRT501264	hsa-miR-4503	PAR-CLIP	24398324
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	23708386
MIRT443186	hsa-miR-153-5p	PAR-CLIP	23708386
MIRT443185	hsa-miR-9-3p	PAR-CLIP	23708386
MIRT443184	hsa-miR-4477a	PAR-CLIP	23708386
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	22100165
MIRT443186	hsa-miR-153-5p	PAR-CLIP	22100165
MIRT443185	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT443184	hsa-miR-4477a	PAR-CLIP	22100165
MIRT1184685	hsa-miR-30a	CLIP-seq
MIRT1184686	hsa-miR-30b	CLIP-seq
MIRT1184687	hsa-miR-30c	CLIP-seq
MIRT1184688	hsa-miR-30d	CLIP-seq
MIRT1184689	hsa-miR-30e	CLIP-seq
MIRT1184690	hsa-miR-3140-3p	CLIP-seq
MIRT1184691	hsa-miR-370	CLIP-seq
MIRT1184692	hsa-miR-4264	CLIP-seq
MIRT1184693	hsa-miR-4328	CLIP-seq
MIRT1184694	hsa-miR-4659a-3p	CLIP-seq
MIRT1184695	hsa-miR-4659b-3p	CLIP-seq
MIRT1184696	hsa-miR-4738-3p	CLIP-seq
MIRT1184697	hsa-miR-4797-3p	CLIP-seq
MIRT1184698	hsa-miR-548a-3p	CLIP-seq
MIRT1184699	hsa-miR-548e	CLIP-seq
MIRT1184700	hsa-miR-548f	CLIP-seq
MIRT1184701	hsa-miR-548g	CLIP-seq
MIRT1184702	hsa-miR-656	CLIP-seq
MIRT1184703	hsa-miR-942	CLIP-seq
MIRT1184704	hsa-miR-1279	CLIP-seq
MIRT1184705	hsa-miR-130a	CLIP-seq
MIRT1184706	hsa-miR-130b	CLIP-seq
MIRT1184707	hsa-miR-148a	CLIP-seq
MIRT1184708	hsa-miR-148b	CLIP-seq
MIRT1184709	hsa-miR-152	CLIP-seq
MIRT1184710	hsa-miR-19a	CLIP-seq
MIRT1184711	hsa-miR-19b	CLIP-seq
MIRT1184712	hsa-miR-300	CLIP-seq
MIRT1184713	hsa-miR-301a	CLIP-seq
MIRT1184714	hsa-miR-301b	CLIP-seq
MIRT1184715	hsa-miR-3074-5p	CLIP-seq
MIRT1184690	hsa-miR-3140-3p	CLIP-seq
MIRT1184716	hsa-miR-3162-5p	CLIP-seq
MIRT1184717	hsa-miR-3666	CLIP-seq
MIRT1184718	hsa-miR-3672	CLIP-seq
MIRT1184719	hsa-miR-3678-3p	CLIP-seq
MIRT1184720	hsa-miR-3691-3p	CLIP-seq
MIRT1184691	hsa-miR-370	CLIP-seq
MIRT1184721	hsa-miR-381	CLIP-seq
MIRT1184692	hsa-miR-4264	CLIP-seq
MIRT1184722	hsa-miR-4295	CLIP-seq
MIRT1184693	hsa-miR-4328	CLIP-seq
MIRT1184723	hsa-miR-4446-5p	CLIP-seq
MIRT1184724	hsa-miR-4471	CLIP-seq
MIRT1184725	hsa-miR-454	CLIP-seq
MIRT1184694	hsa-miR-4659a-3p	CLIP-seq
MIRT1184695	hsa-miR-4659b-3p	CLIP-seq
MIRT1184726	hsa-miR-4666-3p	CLIP-seq
MIRT1184727	hsa-miR-4711-5p	CLIP-seq
MIRT1184697	hsa-miR-4797-3p	CLIP-seq
MIRT1184728	hsa-miR-520d-5p	CLIP-seq
MIRT1184729	hsa-miR-524-5p	CLIP-seq
MIRT1184730	hsa-miR-548aa	CLIP-seq
MIRT1184731	hsa-miR-548ac	CLIP-seq
MIRT1184732	hsa-miR-548ae	CLIP-seq
MIRT1184733	hsa-miR-548aj	CLIP-seq
MIRT1184734	hsa-miR-548am	CLIP-seq
MIRT1184735	hsa-miR-548c-3p	CLIP-seq
MIRT1184736	hsa-miR-548d-3p	CLIP-seq
MIRT1184737	hsa-miR-548x	CLIP-seq
MIRT1184738	hsa-miR-548z	CLIP-seq
MIRT1184739	hsa-miR-664	CLIP-seq
MIRT1184703	hsa-miR-942	CLIP-seq
MIRT2282722	hsa-miR-1272	CLIP-seq
MIRT2282723	hsa-miR-580	CLIP-seq
MIRT2282724	hsa-miR-599	CLIP-seq
MIRT2282725	hsa-miR-329	CLIP-seq
MIRT2282726	hsa-miR-362-3p	CLIP-seq
MIRT2282727	hsa-miR-3941	CLIP-seq
MIRT1184723	hsa-miR-4446-5p	CLIP-seq
MIRT2282728	hsa-miR-4699-3p	CLIP-seq
MIRT1184728	hsa-miR-520d-5p	CLIP-seq
MIRT1184729	hsa-miR-524-5p	CLIP-seq
MIRT2282729	hsa-miR-603	CLIP-seq
MIRT2391552	hsa-miR-1224-3p	CLIP-seq
MIRT2391553	hsa-miR-1260	CLIP-seq
MIRT2391554	hsa-miR-1260b	CLIP-seq
MIRT2391555	hsa-miR-1280	CLIP-seq
MIRT2391556	hsa-miR-150	CLIP-seq
MIRT2391557	hsa-miR-3127-3p	CLIP-seq
MIRT2391558	hsa-miR-4713-5p	CLIP-seq
MIRT2391559	hsa-miR-532-3p	CLIP-seq
MIRT2442418	hsa-miR-221	CLIP-seq
MIRT2442419	hsa-miR-222	CLIP-seq
MIRT2442420	hsa-miR-548v	CLIP-seq
MIRT1184730	hsa-miR-548aa	CLIP-seq
MIRT1184732	hsa-miR-548ae	CLIP-seq
MIRT1184733	hsa-miR-548aj	CLIP-seq
MIRT1184734	hsa-miR-548am	CLIP-seq
MIRT1184737	hsa-miR-548x	CLIP-seq
MIRT2580733	hsa-miR-450b-5p	CLIP-seq
MIRT2580734	hsa-miR-4708-3p	CLIP-seq
MIRT2580735	hsa-miR-4761-5p	CLIP-seq
MIRT1184698	hsa-miR-548a-3p	CLIP-seq
MIRT1184699	hsa-miR-548e	CLIP-seq
MIRT1184700	hsa-miR-548f	CLIP-seq
MIRT2686302	hsa-miR-1271	CLIP-seq
MIRT1184704	hsa-miR-1279	CLIP-seq
MIRT2686303	hsa-miR-182	CLIP-seq
MIRT2686304	hsa-miR-31	CLIP-seq
MIRT2686305	hsa-miR-3138	CLIP-seq
MIRT2686306	hsa-miR-3165	CLIP-seq
MIRT2686307	hsa-miR-335	CLIP-seq
MIRT2580733	hsa-miR-450b-5p	CLIP-seq
MIRT2580734	hsa-miR-4708-3p	CLIP-seq
MIRT2580735	hsa-miR-4761-5p	CLIP-seq
MIRT1184698	hsa-miR-548a-3p	CLIP-seq
MIRT1184699	hsa-miR-548e	CLIP-seq
MIRT1184700	hsa-miR-548f	CLIP-seq
MIRT2686308	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 300457
• HGNC: 7820
• e!Ensembl: ENSG00000188158

Protein

• UniProt ID: Q6T4R5
• Protein name: Actin remodeling regulator NHS (Congenital cataracts and dental anomalies protein) (Nance-Horan syndrome protein)
• Protein function: May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15273	NHS	439 → 1078	NHS-like	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibrob
• Sequence:

  MPFAKRIVEPQWLCRQRRPAPGPAVDASGGSAEPPPPLQPPGRRDLDEVEAPGPEEPARA
  VPAPSGLPPPPPPLPAPADQTQPPHGEASVAGEESTAGIPEAAPAAGEASSAAAAAAVLL
  MLDLCAVSNAALARVLRQLSDVARHACSLFQELESDIQLTHRRVWALQGKLGGVQRVLST
  LDPKQEAVPVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRRE
  HRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHFLTFNSTRSPSPTECCHMT
  PWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVIS
  SCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPV
  ARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSA
  GNISALADKGDTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHER
  TPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNS
  DTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGS
  SHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLLDDPNNSNTSD
  SEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDKADTSSHFSVD
  TEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSI
  SFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSR
  MENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPY
  RSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLAS
  PSSGYSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLE
  LPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKS
  VNLRSINKSEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTIL
  SFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPE
  NTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESV
  DVITSQSDSPTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIA
  SGISAKSASDNSKAEETQGNVDEASLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRT
  TEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSP
  GLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEILKSPILPKPPGELTAESPQST
  DDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCR
  LYNTPMQAISEGETENSDGSPHDDRSSQSST

• Sequence length: 1651

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
Cataract 40	Pathogenic; Likely pathogenic	rs132630322, rs2519924091, rs2519927569	RCV004549356 RCV003485934 RCV003985989	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic	rs864309679, rs111534978	RCV000203327 RCV000203345	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nance-Horan syndrome	Pathogenic; Likely pathogenic	rs2147140951, rs2147145062, rs2146834311, rs786205257, rs2147115316, rs2147145827, rs2519941885, rs2519940981, rs786205677, rs2519938991, rs2519927471, rs875989805, rs786205255, rs786205256, rs132630322, rs1556030707, rs104894881, rs2519941556, rs2519619288, rs2519619514, rs2519620235, rs2519938626, rs2519939810, rs2519927569, rs1481421967, rs1556038355, rs1341004065, rs1556039901, rs1556038028, rs1569319773, rs1569310288, rs1569310232, rs1601859570, rs1601838818, rs2064345759, rs1484691355, rs2066444344, rs2066454000, rs2066406973	RCV001383317 RCV001382786 RCV001992845 RCV001934740 RCV002000011 RCV001975049 RCV002289389 RCV002290327 RCV000170469 RCV002807132 RCV002810146 RCV000211110 RCV000011770 RCV000011771 RCV000011772 RCV000011773 RCV000011774 RCV000011775 RCV003485935 RCV003510475 RCV003509896 RCV003510307 RCV003510373 RCV003623249 RCV003985989 RCV000498961 RCV000536969 RCV000526164 RCV000539510 RCV001860427 RCV000691139 RCV000699776 RCV000816102 RCV000806284 RCV000990474 RCV001055102 RCV001044162 RCV001071893 RCV001039059 RCV001243972	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NHS-related disorder	Likely pathogenic	rs875989805, rs2519619779	RCV004730908 RCV003894256	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs2519924091	RCV005931071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked syndromic intellectual disability	Pathogenic	rs1481421967	RCV000498961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL, WITH MICROCORNEA OR SLIGHT MICROPHTHALMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acid cholesteryl ester hydrolase deficiency, type 2	Wolman disease	BEFREE	29394260		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29076010		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	30141472		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	30249157		★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	12752129		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29187466		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29187466		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29465743, 31537105		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31773223		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28558734		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28341689, 31232684		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29458408, 29701167		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	26037115		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30291969		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31186063		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	29328065		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	31488804		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16911137, 18679829, 21080063, 27460935, 28236777, 28675954, 28878809, 29391383, 31038252, 31559859		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	27720881		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28367790		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28765402, 29716550, 30518460, 31651938		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	21559051		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23312704, 29971437, 30282645, 30585389, 30642267, 30791884, 31438908, 31481364		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29386619, 30742028		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34014271, 34884523	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT 40	Cataract	GENOMICS_ENGLAND_DG	11836358, 23566852		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract congenital with microcornea or slight microphthalmia	Cataract-microcornea syndrome	Pubtator	15466011, 19414485	Associate	★☆☆☆☆ Found in Text Mining only
Cataract, congenital, with microcornea or slight microphthalmia	Congenital Cataract With Microcornea Or Slight Microphthalmia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, with microcornea or slight microphthalmia	Congenital Cataract With Microcornea Or Slight Microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, total congenital with posterior sutural opacities in Heterozygotes	Congenital Cataract	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	30891843		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28181626, 28439750, 28728602, 29029846, 30174270, 30873107, 31233554, 31262343, 31846500		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	29042392		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29311660		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29221643		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24996433, 25910169, 27490113, 28600231, 28689154, 28806955, 28895526, 29391383, 29977285, 31567507		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	16675532, 16736028, 19414485, 24968223, 30942463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	21559051		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	30029695		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	30661272		★☆☆☆☆ Found in Text Mining only
Congenital total cataract	Congenital Cataract	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28774374, 29042392		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	28498785		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29221643, 31179517		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31179517		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23312704, 31179517		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	31014344		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31202982		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	8520332		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29096686, 29661229		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26891463, 27019375, 29039976, 30879470, 30917667, 31661058		★☆☆☆☆ Found in Text Mining only
Dental Diseases	Dental Diseases	BEFREE	31253916		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31501097		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16949519, 28224275, 28295974, 28320325, 28663023, 29205066, 29766565, 30002857, 30773681, 31354065, 31530690		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16949519, 28224275, 28295974, 28320325, 28663023, 29205066, 29766565, 30002857, 30773681, 31354065, 31366393, 31530690		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28665946, 28905317, 29766565		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22760990, 29266374, 30704425, 31048434, 31808578		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	31200667		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	30504828		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27378786		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11836358, 14564667, 16736028, 19414485, 21559051, 22229851, 24968223		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	30382936		★☆☆☆☆ Found in Text Mining only
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eating Disorders	Eating Disorders	BEFREE	31849745		★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31469860		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31318420		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	BEFREE	31167965		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28915401, 29422396, 30445294		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	11262423		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28821554, 31110230, 31322025, 31685974		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29943102		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25894741		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31520045		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28774374		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	19601990		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	19601990		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	25910169, 28895526, 31469860		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	28176188		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	21685482, 9093594		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28498785		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28295974		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	28434634		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	30496561		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	31225617		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27159028	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	28953813, 29533834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Cancer	Intestinal Cancer	BEFREE	28753697, 28806955, 29977285, 31269628, 31722875		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	28905317		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28693548, 29862965, 30872290		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	26132578		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29912328		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31654001		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27541594		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28406053		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28406053		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28406053, 31570977		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28406053		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	25910169, 28895526, 31469860		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31520045		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16911137, 18679829, 21080063, 27460935, 28236777, 28675954, 28878809, 29391383, 31038252, 31559859		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31469860		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30430714		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28765402, 29716550, 30518460, 31651938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31654001		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29272281		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28827249, 29699001, 30549266		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17508269, 17520352, 18679829, 27170063, 27614355, 28453615, 28974597, 29187466, 29349586, 29395223, 29540358, 29543399, 29659715, 29661970, 29912328, 29929536, 30086451, 30372125, 30418093, 30798790, 31038252, 31071525, 31129565, 31219173, 31286552, 31441319, 31520940, 9797701		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27693272		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31501097		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30963029		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia, syndromic 2	Syndromic microphthalmia	BEFREE	22301464		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11836358, 14564667, 16736028, 19414485, 21559051, 22229851, 24968223		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19879194, 30419510, 30810827		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29221643		★☆☆☆☆ Found in Text Mining only
Nance-Horan syndrome	Nance-Horan Syndrome	GENOMICS_ENGLAND_DG	11836358, 23566852		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nance-Horan syndrome	Nance-Horan Syndrome	CLINVAR_DG	14564667, 18949062, 24968223		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nance-Horan syndrome	Nance-Horan Syndrome	CLINGEN_DG	14564667, 16357105, 18949062, 20332100		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nance-Horan syndrome	Nance-Horan Syndrome	BEFREE	15466011, 15623749, 16675532, 16736028, 17417607, 18949062, 20882036, 21559051, 22301464, 24305999, 25266737, 28061824, 28557584, 28922055, 29156758, 29358614, 29402928, 29425869, 30397324, 30642278, 30650180, 31253919, 31281486, 9689927		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nance-Horan syndrome	Nance-Horan Syndrome	ORPHANET_DG	20332100		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nance-Horan syndrome	Nance-Horan Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nance-Horan syndrome	Nance-Horan Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30855169		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	27553590		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27376889, 28423552, 28524652, 28679778, 29752488		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GWASDB_DG	22544364		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GWASCAT_DG	22544364		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29029846, 31345272		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	27796735		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	27796735		★☆☆☆☆ Found in Text Mining only
Neurotic Disorders	Neurotic Disorders	BEFREE	29897527		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27002005		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29796850, 29897527, 30167644, 30877877		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	19414485, 24384146, 24968223		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	19414485, 24384146, 24968223		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29076010, 29166399, 30310193, 30597439		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29187466		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28267751		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29272281		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28611293	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28320325, 30012028		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30232932		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	28434634		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31605076		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	28677909		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	20659909		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29439083		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26891463, 27019375, 29039976, 30879470, 30917667, 31661058		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28827249, 29699001, 30549266		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36326314	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28976302		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29796850, 29897527, 30167644, 30877877		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	30876415		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27376889, 28680762		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28558734, 31523046		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	31171031		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29579109, 29793816		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	BEFREE	29018153		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11049706		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	30219606		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28974586		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30382936		★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	BEFREE	27216498		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28364959		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sutural cataract	Sutural cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	31695156		★☆☆☆☆ Found in Text Mining only
Total early-onset cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	30663235		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	19601990		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	BEFREE	31366393		★☆☆☆☆ Found in Text Mining only
Wolman Disease	Wolman Disease	BEFREE	29394260		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	30661272		★☆☆☆☆ Found in Text Mining only