AFF2 (ALF transcription elongation factor 2)

Gene

• Entrez ID: 2334
• Gene name: ALF transcription elongation factor 2
• Gene symbol: AFF2
• Synonyms (NCBI Gene): FMR2, FMR2P, FRAXE, MRX2, OX19, XLID109
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139807832	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1064796818	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557256416	A>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1603350606	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT671754	hsa-miR-933	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT671754	hsa-miR-933	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT645858	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT645857	hsa-miR-4773	HITS-CLIP	23824327
MIRT645855	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT645856	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT645854	hsa-miR-22-5p	HITS-CLIP	23824327
MIRT645853	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT645852	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT645851	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT619141	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT619140	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT619139	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT619138	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT619137	hsa-miR-2113	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	20371350
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	20371350
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	20371350
MIRT456079	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT456078	hsa-miR-4306	PAR-CLIP	20371350
MIRT456077	hsa-miR-4644	PAR-CLIP	20371350
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT456075	hsa-miR-8085	PAR-CLIP	20371350
MIRT456074	hsa-miR-3175	PAR-CLIP	20371350
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT456072	hsa-miR-5698	PAR-CLIP	20371350
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT540158	hsa-miR-8485	PAR-CLIP	21572407
MIRT540157	hsa-miR-603	PAR-CLIP	21572407
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	24398324
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT488329	hsa-miR-3125	PAR-CLIP	24398324
MIRT488328	hsa-miR-3916	PAR-CLIP	24398324
MIRT488327	hsa-miR-6859-5p	PAR-CLIP	24398324
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	24398324
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	24398324
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	24398324
MIRT488326	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT488325	hsa-miR-4784	PAR-CLIP	24398324
MIRT456079	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT456078	hsa-miR-4306	PAR-CLIP	24398324
MIRT456077	hsa-miR-4644	PAR-CLIP	24398324
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT456075	hsa-miR-8085	PAR-CLIP	24398324
MIRT456074	hsa-miR-3175	PAR-CLIP	24398324
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT456072	hsa-miR-5698	PAR-CLIP	24398324
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT488324	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT488329	hsa-miR-3125	PAR-CLIP	23592263
MIRT488328	hsa-miR-3916	PAR-CLIP	23592263
MIRT488327	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488326	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT488325	hsa-miR-4784	PAR-CLIP	23592263
MIRT456079	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT456078	hsa-miR-4306	PAR-CLIP	23592263
MIRT456077	hsa-miR-4644	PAR-CLIP	23592263
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456075	hsa-miR-8085	PAR-CLIP	23592263
MIRT456074	hsa-miR-3175	PAR-CLIP	23592263
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT456072	hsa-miR-5698	PAR-CLIP	23592263
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488324	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	23592263
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT456079	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT456078	hsa-miR-4306	PAR-CLIP	23592263
MIRT456077	hsa-miR-4644	PAR-CLIP	23592263
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456075	hsa-miR-8085	PAR-CLIP	23592263
MIRT456074	hsa-miR-3175	PAR-CLIP	23592263
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT456072	hsa-miR-5698	PAR-CLIP	23592263
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT456079	hsa-miR-185-5p	PAR-CLIP	27292025
MIRT488329	hsa-miR-3125	PAR-CLIP	27292025
MIRT488326	hsa-miR-3150b-3p	PAR-CLIP	27292025
MIRT456074	hsa-miR-3175	PAR-CLIP	27292025
MIRT488328	hsa-miR-3916	PAR-CLIP	27292025
MIRT456078	hsa-miR-4306	PAR-CLIP	27292025
MIRT456077	hsa-miR-4644	PAR-CLIP	27292025
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	27292025
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	27292025
MIRT488325	hsa-miR-4784	PAR-CLIP	27292025
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT456072	hsa-miR-5698	PAR-CLIP	27292025
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	27292025
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	27292025
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	27292025
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	27292025
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	27292025
MIRT488327	hsa-miR-6859-5p	PAR-CLIP	27292025
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	27292025
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	27292025
MIRT456075	hsa-miR-8085	PAR-CLIP	27292025
MIRT488324	hsa-miR-877-5p	PAR-CLIP	27292025
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT540157	hsa-miR-603	HITS-CLIP	27418678
MIRT540157	hsa-miR-603	HITS-CLIP	27418678
MIRT540158	hsa-miR-8485	HITS-CLIP	27418678
MIRT540158	hsa-miR-8485	HITS-CLIP	27418678
MIRT737973	hsa-miR-1976	HITS-CLIP	28735896
MIRT737974	hsa-miR-4279	HITS-CLIP	28735896
MIRT737970	hsa-miR-4720-3p	HITS-CLIP	28735896
MIRT737971	hsa-miR-4804-3p	HITS-CLIP	28735896
MIRT737969	hsa-miR-548aa	HITS-CLIP	28735896
MIRT737968	hsa-miR-645	HITS-CLIP	28735896
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT671754	hsa-miR-933	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT671754	hsa-miR-933	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT645858	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT645857	hsa-miR-4773	HITS-CLIP	23824327
MIRT645855	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT645856	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT645854	hsa-miR-22-5p	HITS-CLIP	23824327
MIRT645853	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT645852	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT645851	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT633583	hsa-miR-4783-5p	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT619141	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT619140	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT619139	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT619138	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT619137	hsa-miR-2113	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT540158	hsa-miR-8485	HITS-CLIP	23824327
MIRT540157	hsa-miR-603	HITS-CLIP	23824327
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	20371350
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	20371350
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	20371350
MIRT456079	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT456078	hsa-miR-4306	PAR-CLIP	20371350
MIRT456077	hsa-miR-4644	PAR-CLIP	20371350
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT456075	hsa-miR-8085	PAR-CLIP	20371350
MIRT456074	hsa-miR-3175	PAR-CLIP	20371350
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT456072	hsa-miR-5698	PAR-CLIP	20371350
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT540158	hsa-miR-8485	PAR-CLIP	21572407
MIRT540157	hsa-miR-603	PAR-CLIP	21572407
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	24398324
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT488329	hsa-miR-3125	PAR-CLIP	24398324
MIRT488328	hsa-miR-3916	PAR-CLIP	24398324
MIRT488327	hsa-miR-6859-5p	PAR-CLIP	24398324
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	24398324
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	24398324
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	24398324
MIRT488326	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT488325	hsa-miR-4784	PAR-CLIP	24398324
MIRT456079	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT456078	hsa-miR-4306	PAR-CLIP	24398324
MIRT456077	hsa-miR-4644	PAR-CLIP	24398324
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT456075	hsa-miR-8085	PAR-CLIP	24398324
MIRT456074	hsa-miR-3175	PAR-CLIP	24398324
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT456072	hsa-miR-5698	PAR-CLIP	24398324
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT488324	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT488329	hsa-miR-3125	PAR-CLIP	23592263
MIRT488328	hsa-miR-3916	PAR-CLIP	23592263
MIRT488327	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488326	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT488325	hsa-miR-4784	PAR-CLIP	23592263
MIRT456079	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT456078	hsa-miR-4306	PAR-CLIP	23592263
MIRT456077	hsa-miR-4644	PAR-CLIP	23592263
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456075	hsa-miR-8085	PAR-CLIP	23592263
MIRT456074	hsa-miR-3175	PAR-CLIP	23592263
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT456072	hsa-miR-5698	PAR-CLIP	23592263
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488324	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT456085	hsa-miR-6502-3p	PAR-CLIP	23592263
MIRT456084	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT456083	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT456082	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT456081	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT456080	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT456079	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT456078	hsa-miR-4306	PAR-CLIP	23592263
MIRT456077	hsa-miR-4644	PAR-CLIP	23592263
MIRT456076	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456075	hsa-miR-8085	PAR-CLIP	23592263
MIRT456074	hsa-miR-3175	PAR-CLIP	23592263
MIRT456073	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT456072	hsa-miR-5698	PAR-CLIP	23592263
MIRT456071	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT456070	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT770989	hsa-miR-122	CLIP-seq
MIRT770990	hsa-miR-1273d	CLIP-seq
MIRT770991	hsa-miR-1290	CLIP-seq
MIRT770992	hsa-miR-1294	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT770994	hsa-miR-197	CLIP-seq
MIRT770995	hsa-miR-200b	CLIP-seq
MIRT770996	hsa-miR-200c	CLIP-seq
MIRT770997	hsa-miR-205	CLIP-seq
MIRT770998	hsa-miR-2115	CLIP-seq
MIRT770999	hsa-miR-3126-5p	CLIP-seq
MIRT771000	hsa-miR-3148	CLIP-seq
MIRT771001	hsa-miR-3185	CLIP-seq
MIRT771002	hsa-miR-3198	CLIP-seq
MIRT771003	hsa-miR-3646	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT771004	hsa-miR-374c	CLIP-seq
MIRT771005	hsa-miR-412	CLIP-seq
MIRT771006	hsa-miR-429	CLIP-seq
MIRT771007	hsa-miR-4309	CLIP-seq
MIRT771008	hsa-miR-4316	CLIP-seq
MIRT771009	hsa-miR-4419a	CLIP-seq
MIRT771010	hsa-miR-4428	CLIP-seq
MIRT771011	hsa-miR-4510	CLIP-seq
MIRT771012	hsa-miR-4653-3p	CLIP-seq
MIRT771013	hsa-miR-4685-5p	CLIP-seq
MIRT771014	hsa-miR-4693-5p	CLIP-seq
MIRT771015	hsa-miR-4778-5p	CLIP-seq
MIRT771016	hsa-miR-515-5p	CLIP-seq
MIRT771017	hsa-miR-539	CLIP-seq
MIRT771018	hsa-miR-610	CLIP-seq
MIRT771019	hsa-miR-655	CLIP-seq
MIRT771020	hsa-miR-665	CLIP-seq
MIRT771021	hsa-miR-888	CLIP-seq
MIRT771022	hsa-miR-935	CLIP-seq
MIRT771023	hsa-miR-1276	CLIP-seq
MIRT771024	hsa-miR-3662	CLIP-seq
MIRT771025	hsa-miR-3682-3p	CLIP-seq
MIRT771026	hsa-miR-4311	CLIP-seq
MIRT771027	hsa-miR-583	CLIP-seq
MIRT771028	hsa-miR-103a	CLIP-seq
MIRT771029	hsa-miR-107	CLIP-seq
MIRT771030	hsa-miR-1184	CLIP-seq
MIRT771031	hsa-miR-1200	CLIP-seq
MIRT771032	hsa-miR-15a	CLIP-seq
MIRT771033	hsa-miR-15b	CLIP-seq
MIRT771034	hsa-miR-16	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT771035	hsa-miR-195	CLIP-seq
MIRT771036	hsa-miR-203	CLIP-seq
MIRT771037	hsa-miR-217	CLIP-seq
MIRT771038	hsa-miR-28-5p	CLIP-seq
MIRT771039	hsa-miR-3139	CLIP-seq
MIRT771040	hsa-miR-3607-3p	CLIP-seq
MIRT771041	hsa-miR-3667-5p	CLIP-seq
MIRT771042	hsa-miR-3690	CLIP-seq
MIRT771043	hsa-miR-380	CLIP-seq
MIRT771044	hsa-miR-3919	CLIP-seq
MIRT771045	hsa-miR-3925-5p	CLIP-seq
MIRT771046	hsa-miR-409-3p	CLIP-seq
MIRT771047	hsa-miR-424	CLIP-seq
MIRT771048	hsa-miR-4254	CLIP-seq
MIRT771049	hsa-miR-4307	CLIP-seq
MIRT771050	hsa-miR-4326	CLIP-seq
MIRT771051	hsa-miR-4418	CLIP-seq
MIRT771052	hsa-miR-4421	CLIP-seq
MIRT771053	hsa-miR-4495	CLIP-seq
MIRT771054	hsa-miR-4514	CLIP-seq
MIRT771055	hsa-miR-4524	CLIP-seq
MIRT771056	hsa-miR-4645-5p	CLIP-seq
MIRT771057	hsa-miR-4673	CLIP-seq
MIRT771058	hsa-miR-4686	CLIP-seq
MIRT771059	hsa-miR-4687-3p	CLIP-seq
MIRT771060	hsa-miR-4692	CLIP-seq
MIRT771061	hsa-miR-4755-3p	CLIP-seq
MIRT771062	hsa-miR-4793-5p	CLIP-seq
MIRT771063	hsa-miR-497	CLIP-seq
MIRT771064	hsa-miR-503	CLIP-seq
MIRT771065	hsa-miR-507	CLIP-seq
MIRT771066	hsa-miR-509-3-5p	CLIP-seq
MIRT771067	hsa-miR-509-5p	CLIP-seq
MIRT771068	hsa-miR-518a-5p	CLIP-seq
MIRT771069	hsa-miR-527	CLIP-seq
MIRT771070	hsa-miR-548n	CLIP-seq
MIRT771071	hsa-miR-548t	CLIP-seq
MIRT771072	hsa-miR-557	CLIP-seq
MIRT771073	hsa-miR-589	CLIP-seq
MIRT771074	hsa-miR-646	CLIP-seq
MIRT771075	hsa-miR-708	CLIP-seq
MIRT771076	hsa-miR-940	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT1545179	hsa-miR-877	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT770990	hsa-miR-1273d	CLIP-seq
MIRT1927454	hsa-miR-1299	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT1927455	hsa-miR-3120-3p	CLIP-seq
MIRT1927456	hsa-miR-3167	CLIP-seq
MIRT1927457	hsa-miR-342-5p	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT771046	hsa-miR-409-3p	CLIP-seq
MIRT1927458	hsa-miR-4422	CLIP-seq
MIRT771053	hsa-miR-4495	CLIP-seq
MIRT771054	hsa-miR-4514	CLIP-seq
MIRT771056	hsa-miR-4645-5p	CLIP-seq
MIRT1927459	hsa-miR-4654	CLIP-seq
MIRT1927460	hsa-miR-4664-5p	CLIP-seq
MIRT771057	hsa-miR-4673	CLIP-seq
MIRT771060	hsa-miR-4692	CLIP-seq
MIRT1927461	hsa-miR-4704-3p	CLIP-seq
MIRT1927462	hsa-miR-4712-5p	CLIP-seq
MIRT771061	hsa-miR-4755-3p	CLIP-seq
MIRT1927463	hsa-miR-4769-5p	CLIP-seq
MIRT1927464	hsa-miR-4782-5p	CLIP-seq
MIRT1927465	hsa-miR-498	CLIP-seq
MIRT1927466	hsa-miR-516b	CLIP-seq
MIRT1927467	hsa-miR-562	CLIP-seq
MIRT1927468	hsa-miR-770-5p	CLIP-seq
MIRT1927469	hsa-miR-876-5p	CLIP-seq
MIRT2168201	hsa-miR-125a-3p	CLIP-seq
MIRT2168202	hsa-miR-1286	CLIP-seq
MIRT2168203	hsa-miR-133a	CLIP-seq
MIRT2168204	hsa-miR-133b	CLIP-seq
MIRT2168205	hsa-miR-141	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT2168206	hsa-miR-200a	CLIP-seq
MIRT2168207	hsa-miR-2964a-3p	CLIP-seq
MIRT2168208	hsa-miR-3124-3p	CLIP-seq
MIRT771002	hsa-miR-3198	CLIP-seq
MIRT2168209	hsa-miR-330-3p	CLIP-seq
MIRT2168210	hsa-miR-3622a-3p	CLIP-seq
MIRT2168211	hsa-miR-3622b-3p	CLIP-seq
MIRT2168212	hsa-miR-3657	CLIP-seq
MIRT2168213	hsa-miR-3688-3p	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT771007	hsa-miR-4309	CLIP-seq
MIRT2168214	hsa-miR-4436a	CLIP-seq
MIRT2168215	hsa-miR-4438	CLIP-seq
MIRT2168216	hsa-miR-4689	CLIP-seq
MIRT2168217	hsa-miR-4722-5p	CLIP-seq
MIRT2168218	hsa-miR-4762-3p	CLIP-seq
MIRT2168219	hsa-miR-4765	CLIP-seq
MIRT2168220	hsa-miR-490-5p	CLIP-seq
MIRT2168221	hsa-miR-5095	CLIP-seq
MIRT771068	hsa-miR-518a-5p	CLIP-seq
MIRT771069	hsa-miR-527	CLIP-seq
MIRT2168222	hsa-miR-579	CLIP-seq
MIRT771073	hsa-miR-589	CLIP-seq
MIRT2168223	hsa-miR-627	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT2443289	hsa-miR-1226	CLIP-seq
MIRT2443290	hsa-miR-1293	CLIP-seq
MIRT770993	hsa-miR-185	CLIP-seq
MIRT2443291	hsa-miR-186	CLIP-seq
MIRT2443292	hsa-miR-3157-5p	CLIP-seq
MIRT2443293	hsa-miR-4267	CLIP-seq
MIRT2443294	hsa-miR-4483	CLIP-seq
MIRT2443295	hsa-miR-4659a-3p	CLIP-seq
MIRT2443296	hsa-miR-4659b-3p	CLIP-seq
MIRT2443297	hsa-miR-4691-3p	CLIP-seq
MIRT1545179	hsa-miR-877	CLIP-seq
MIRT2470910	hsa-miR-1205	CLIP-seq
MIRT2470911	hsa-miR-1236	CLIP-seq
MIRT771023	hsa-miR-1276	CLIP-seq
MIRT2168205	hsa-miR-141	CLIP-seq
MIRT2470912	hsa-miR-1909	CLIP-seq
MIRT2168206	hsa-miR-200a	CLIP-seq
MIRT2470913	hsa-miR-216b	CLIP-seq
MIRT2443292	hsa-miR-3157-5p	CLIP-seq
MIRT771003	hsa-miR-3646	CLIP-seq
MIRT771024	hsa-miR-3662	CLIP-seq
MIRT737972	hsa-miR-370	CLIP-seq
MIRT2470914	hsa-miR-421	CLIP-seq
MIRT2470915	hsa-miR-4272	CLIP-seq
MIRT771026	hsa-miR-4311	CLIP-seq
MIRT2470916	hsa-miR-4452	CLIP-seq
MIRT2443297	hsa-miR-4691-3p	CLIP-seq
MIRT2470917	hsa-miR-4709-5p	CLIP-seq
MIRT2470918	hsa-miR-4744	CLIP-seq
MIRT2470919	hsa-miR-4778-3p	CLIP-seq
MIRT771027	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002151	Function	G-quadruplex RNA binding	IBA
GO:0002151	Function	G-quadruplex RNA binding	IEA
GO:0002151	Function	G-quadruplex RNA binding	ISS
GO:0003723	Function	RNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007420	Process	Brain development	TAS	8673086
GO:0007611	Process	Learning or memory	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IMP	23562910
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA	19136466
GO:0016607	Component	Nuclear speck	IEA
GO:0032783	Component	Super elongation complex	IBA
GO:0035063	Process	Nuclear speck organization	IMP	23562910
GO:0043484	Process	Regulation of RNA splicing	IBA
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:0043484	Process	Regulation of RNA splicing	IMP	19136466

Other IDs

• MIM: 300806
• HGNC: 3776
• e!Ensembl: ENSG00000155966

Protein

• UniProt ID: P51816
• Protein name: AF4/FMR2 family member 2 (Protein FMR-2) (FMR2P) (Protein Ox19)
• Protein function: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05110	AF-4	18 → 535		Family
  PF18875	AF4_int	801 → 815	AF4 interaction motif	Motif
  PF18876	AF-4_C	1054 → 1311	AF-4 proto-oncoprotein C-terminal region	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain (most abundant in hippocampus and amygdala), placenta and lung.
• Sequence:

  MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEY
  TNKGDALANRVQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKN
  RIIPPHQDNTHPSAPMPPPSVVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNK
  MQTLTQDQSQAKLEDFFVYPAEQPQIGEVEESNPSAKEDSNPNSSGEDAFKEIFQSNSPE
  ESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSMGQQKPTAYVRPMDGQDQAPD
  ISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSLPSDPSCVEEI
  LREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFK
  SMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQA
  SGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQ
  NKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRP
  TQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKES
  VELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDS
  NTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLSISNEEPTFSP
  IPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTA
  VTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNS
  SRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGK
  FCATFKGISVNEGDTPKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTT
  TTISTITSTITTGLMDSSHLEMTSWAALPLLSSSSTNVRRPKLTFDDSVHNADYYMQEAK
  KLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYTMYSETVELLRYAMRL
  KNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIP
  SPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHW
  DMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL

• Sequence length: 1311

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
FRAXE	Likely pathogenic; Pathogenic	rs2124413117, rs1212059076, rs193922937, rs781818996	RCV001794859 RCV001806362 RCV000011272 RCV001251517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1603350606	RCV000850211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs188208167	RCV001270244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AFF2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC APLASTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Uncertain significance; Likely benign	ClinVar ClinGen, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; 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
Acute leukemia	Leukemia	BEFREE	9233580		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21330300		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	25351872		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31784536		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33653372	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	14719138		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22773736, 23849776, 30392976, 32393163	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22773736, 23849776, 25035088, 25687563		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	21739600		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	10424820, 26612855	Associate	★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	BEFREE	11015457, 11355014		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	7998766, 8162055		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35773081	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	35115049	Associate	★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23849776		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	25351872		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	8826457		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23849776		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37381158	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	22065534		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	7998766		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	10424820	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11427173, 8844096		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35429182	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	10424820	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23849776		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	10424820, 10601577, 11462240, 17506108, 22190500, 23849776, 8651274, 9061751, 9217976, 9534118, 9630071		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FRAXA Syndrome	Fragile X syndrome	BEFREE	10601577, 11462240, 9034011, 9217976		★☆☆☆☆ Found in Text Mining only
FRAXA Syndrome	Fragile X syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FRAXE intellectual disability	Fragile X syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	BEFREE	11462240, 14526173, 17135274, 21330300, 21739600, 9034011		★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	CLINGEN_DG	14526173, 23562910, 7536393, 7783162, 8023854, 8334699, 8673086, 9032643, 9341861, 9475603		★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	ORPHANET_DG	21739600		★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	GENOMICS_ENGLAND_DG	8334699		★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	31784536		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25351872	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22065534, 9034011, 9630071		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35773081	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	30264515	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	14719138, 8162055		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23849776, 8844096		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	10424820, 11015457, 22773736, 23914978, 30264515, 35326495, 7541938, 7783162, 8023854, 8651274, 8808600	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	10651894, 10780779, 10818218, 10850542, 10964075, 11017088, 11246464, 12113322, 12537661, 14526173, 14668200, 16321881, 16469443, 17567780, 18078840, 19340490, 21254876, 21330300, 22065534, 23562910, 24763282, 25162227, 7731957, 7783162, 7881407, 7998766, 8162055, 8334699, 8651274, 8673085, 8673086, 8833437, 9147647, 9299237, 9341861, 9431501, 9475603, 9523214, 9534118, 9602188		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	18078840, 22564372		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	10851251, 9435259, 9630071		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	10851251	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	BEFREE	8673086		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	7783162, 8776586		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10651894, 10780779, 10818218, 10850542, 10964075, 11246464, 12113322, 12537661, 14526173, 14668200, 1605216, 16321881, 16469443, 17567780, 18078840, 19340490, 21254876, 7731957, 7783162, 7881407, 7998766, 8162055, 8334699, 8651274, 8673085, 8673086, 8833437, 9147647, 9299237, 9341861, 9431501, 9475603, 9523214, 9602188		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11050621, 11076037, 11246464, 11309367, 11355014, 16469443, 7943041, 8445629		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	11017088, 11309367, 11355014		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 19	Mental Retardation, X-Linked	BEFREE	8826457		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	10951520, 17343270, 7541938, 8023854, 8673085, 8673086, 8808600, 8824884, 8844099		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	12605100, 22065534, 22773736		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	22190500		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	35916809	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31948430	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	8162055		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	12605436		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32707690	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	12605436	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	9217976		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	9630071		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	25035088		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	12605436		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	25351872		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10528856, 28812997, 9719368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	15342126, 21257332		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	15342126		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	22773736		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17968322		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	10528856, 28812997, 9719368		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	8844096		★☆☆☆☆ Found in Text Mining only
Recurrent hand flapping	Hand Flapping	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35429182	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	10651894		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	12605436		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	8162055		★☆☆☆☆ Found in Text Mining only
Stereotypical body rocking	Stereotypy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Neoplasms	Thoracic neoplasm	Pubtator	35773081	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37628839	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25351872		★☆☆☆☆ Found in Text Mining only