WDR72 (WD repeat domain 72)

Gene

• Entrez ID: 256764
• Gene name: WD repeat domain 72
• Gene symbol: WDR72
• Synonyms (NCBI Gene): AI2A3
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143816093	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, non coding transcript variant
rs267607178	G>A,C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, stop gained
rs557128345	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs606231351	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs606231462	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs768446132	A>T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs770804941	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs774263130	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1266819147	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained, genic upstream transcript variant
rs1376457227	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT515415	hsa-miR-8485	HITS-CLIP	21572407
MIRT515414	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT515413	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT515412	hsa-miR-603	HITS-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515409	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT515408	hsa-miR-567	HITS-CLIP	21572407
MIRT515407	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT515405	hsa-miR-3941	HITS-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515402	hsa-miR-3924	HITS-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	HITS-CLIP	21572407
MIRT515400	hsa-miR-297	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23313552
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT515409	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT515407	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT515405	hsa-miR-3941	HITS-CLIP	23313552
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT515414	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT515413	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT515412	hsa-miR-603	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515405	hsa-miR-3941	HITS-CLIP	23824327
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515415	hsa-miR-8485	PAR-CLIP	21572407
MIRT515414	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT515413	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT515412	hsa-miR-603	PAR-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515408	hsa-miR-567	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515405	hsa-miR-3941	PAR-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515402	hsa-miR-3924	PAR-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT515400	hsa-miR-297	PAR-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515415	hsa-miR-8485	PAR-CLIP	23446348
MIRT515414	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT515413	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT515412	hsa-miR-603	PAR-CLIP	23446348
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515409	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT515408	hsa-miR-567	PAR-CLIP	23446348
MIRT515407	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT515405	hsa-miR-3941	PAR-CLIP	23446348
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515402	hsa-miR-3924	PAR-CLIP	23446348
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT515400	hsa-miR-297	PAR-CLIP	23446348
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515415	hsa-miR-8485	HITS-CLIP	21572407
MIRT515414	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT515413	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT515412	hsa-miR-603	HITS-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515409	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT515408	hsa-miR-567	HITS-CLIP	21572407
MIRT515407	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT515405	hsa-miR-3941	HITS-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515402	hsa-miR-3924	HITS-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	HITS-CLIP	21572407
MIRT515400	hsa-miR-297	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23313552
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT515409	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT515407	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT515405	hsa-miR-3941	HITS-CLIP	23313552
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT515414	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT515413	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT515412	hsa-miR-603	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515405	hsa-miR-3941	HITS-CLIP	23824327
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515415	hsa-miR-8485	PAR-CLIP	21572407
MIRT515414	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT515413	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT515412	hsa-miR-603	PAR-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515408	hsa-miR-567	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515405	hsa-miR-3941	PAR-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515402	hsa-miR-3924	PAR-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT515400	hsa-miR-297	PAR-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515415	hsa-miR-8485	PAR-CLIP	23446348
MIRT515414	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT515413	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT515412	hsa-miR-603	PAR-CLIP	23446348
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515409	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT515408	hsa-miR-567	PAR-CLIP	23446348
MIRT515407	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT515405	hsa-miR-3941	PAR-CLIP	23446348
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515402	hsa-miR-3924	PAR-CLIP	23446348
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT515400	hsa-miR-297	PAR-CLIP	23446348
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT1491278	hsa-miR-101	CLIP-seq
MIRT1491279	hsa-miR-1227	CLIP-seq
MIRT1491280	hsa-miR-127-5p	CLIP-seq
MIRT1491281	hsa-miR-1303	CLIP-seq
MIRT1491282	hsa-miR-144	CLIP-seq
MIRT1491283	hsa-miR-151-5p	CLIP-seq
MIRT1491284	hsa-miR-151b	CLIP-seq
MIRT1491285	hsa-miR-2467-5p	CLIP-seq
MIRT1491286	hsa-miR-300	CLIP-seq
MIRT1491287	hsa-miR-3074-5p	CLIP-seq
MIRT1491288	hsa-miR-3127-3p	CLIP-seq
MIRT1491289	hsa-miR-3131	CLIP-seq
MIRT1491290	hsa-miR-3164	CLIP-seq
MIRT1491291	hsa-miR-3168	CLIP-seq
MIRT1491292	hsa-miR-3188	CLIP-seq
MIRT1491293	hsa-miR-3200-3p	CLIP-seq
MIRT1491294	hsa-miR-329	CLIP-seq
MIRT1491295	hsa-miR-338-5p	CLIP-seq
MIRT1491296	hsa-miR-3545-3p	CLIP-seq
MIRT1491297	hsa-miR-3616-5p	CLIP-seq
MIRT1491298	hsa-miR-3647-5p	CLIP-seq
MIRT1491299	hsa-miR-3667-3p	CLIP-seq
MIRT1491300	hsa-miR-3667-5p	CLIP-seq
MIRT1491301	hsa-miR-381	CLIP-seq
MIRT1491302	hsa-miR-3928	CLIP-seq
MIRT1491303	hsa-miR-3973	CLIP-seq
MIRT1491304	hsa-miR-3975	CLIP-seq
MIRT1491305	hsa-miR-4277	CLIP-seq
MIRT1491306	hsa-miR-4281	CLIP-seq
MIRT1491307	hsa-miR-4282	CLIP-seq
MIRT1491308	hsa-miR-4635	CLIP-seq
MIRT1491309	hsa-miR-4642	CLIP-seq
MIRT1491310	hsa-miR-4649-3p	CLIP-seq
MIRT1491311	hsa-miR-4666-3p	CLIP-seq
MIRT1491312	hsa-miR-4735-5p	CLIP-seq
MIRT1491313	hsa-miR-4738-3p	CLIP-seq
MIRT1491314	hsa-miR-4742-3p	CLIP-seq
MIRT1491315	hsa-miR-4760-5p	CLIP-seq
MIRT1491316	hsa-miR-4775	CLIP-seq
MIRT1491317	hsa-miR-4795-5p	CLIP-seq
MIRT1491318	hsa-miR-485-5p	CLIP-seq
MIRT1491319	hsa-miR-495	CLIP-seq
MIRT1491320	hsa-miR-513a-3p	CLIP-seq
MIRT1491321	hsa-miR-520g	CLIP-seq
MIRT1491322	hsa-miR-520h	CLIP-seq
MIRT1491323	hsa-miR-544b	CLIP-seq
MIRT1491324	hsa-miR-548g	CLIP-seq
MIRT1491325	hsa-miR-573	CLIP-seq
MIRT1491326	hsa-miR-576-5p	CLIP-seq
MIRT1491327	hsa-miR-590-3p	CLIP-seq
MIRT1491328	hsa-miR-611	CLIP-seq
MIRT1491329	hsa-miR-630	CLIP-seq
MIRT1491330	hsa-miR-659	CLIP-seq
MIRT1491331	hsa-miR-889	CLIP-seq
MIRT1491332	hsa-miR-942	CLIP-seq
MIRT2148110	hsa-miR-1224-3p	CLIP-seq
MIRT2148111	hsa-miR-1260	CLIP-seq
MIRT2148112	hsa-miR-1260b	CLIP-seq
MIRT2148113	hsa-miR-1280	CLIP-seq
MIRT2148114	hsa-miR-1305	CLIP-seq
MIRT2148115	hsa-miR-1976	CLIP-seq
MIRT2148116	hsa-miR-217	CLIP-seq
MIRT2148117	hsa-miR-3140-3p	CLIP-seq
MIRT2148118	hsa-miR-324-5p	CLIP-seq
MIRT1491294	hsa-miR-329	CLIP-seq
MIRT2148119	hsa-miR-3618	CLIP-seq
MIRT2148120	hsa-miR-374a	CLIP-seq
MIRT2148121	hsa-miR-374b	CLIP-seq
MIRT2148122	hsa-miR-4263	CLIP-seq
MIRT2148123	hsa-miR-4328	CLIP-seq
MIRT2148124	hsa-miR-4418	CLIP-seq
MIRT2148125	hsa-miR-4421	CLIP-seq
MIRT1491316	hsa-miR-4775	CLIP-seq
MIRT2148126	hsa-miR-4799-5p	CLIP-seq
MIRT2148127	hsa-miR-509-3-5p	CLIP-seq
MIRT2148128	hsa-miR-509-5p	CLIP-seq
MIRT1491326	hsa-miR-576-5p	CLIP-seq
MIRT1491327	hsa-miR-590-3p	CLIP-seq
MIRT2148129	hsa-miR-607	CLIP-seq
MIRT2148130	hsa-miR-934	CLIP-seq
MIRT2368587	hsa-miR-145	CLIP-seq
MIRT2368588	hsa-miR-25	CLIP-seq
MIRT2368589	hsa-miR-3120-3p	CLIP-seq
MIRT2148117	hsa-miR-3140-3p	CLIP-seq
MIRT2368590	hsa-miR-3180-5p	CLIP-seq
MIRT2368591	hsa-miR-32	CLIP-seq
MIRT1491297	hsa-miR-3616-5p	CLIP-seq
MIRT2368592	hsa-miR-363	CLIP-seq
MIRT1491298	hsa-miR-3647-5p	CLIP-seq
MIRT2368593	hsa-miR-367	CLIP-seq
MIRT2148122	hsa-miR-4263	CLIP-seq
MIRT2368594	hsa-miR-4645-5p	CLIP-seq
MIRT2368595	hsa-miR-4673	CLIP-seq
MIRT2368596	hsa-miR-4795-3p	CLIP-seq
MIRT1491317	hsa-miR-4795-5p	CLIP-seq
MIRT2368597	hsa-miR-548c-3p	CLIP-seq
MIRT1491325	hsa-miR-573	CLIP-seq
MIRT1491326	hsa-miR-576-5p	CLIP-seq
MIRT2368598	hsa-miR-92a	CLIP-seq
MIRT2368599	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20938048
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA

Other IDs

• MIM: 613214
• HGNC: 26790
• e!Ensembl: ENSG00000166415

Protein

• UniProt ID: Q3MJ13
• Protein name: WD repeat-containing protein 72
• Protein function: Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	452 → 495	WD domain, G-beta repeat	Repeat
  PF00400	WD40	547 → 585	WD domain, G-beta repeat	Repeat

• Sequence:

  MRTSLQAVALWGQKAPPHSITAIMITDDQRTIVTGSQEGQLCLWNLSHELKISAKELLFG
  HSASVTCLARARDFSKQPYIVSAAENGEMCVWNVTNGQCMEKATLPYRHTAICYYHCSFR
  MTGEGWLLCCGEYQDVLIIDAKTLAVVHSFRSSQFPDWINCMCIVHSMRIQEDSLLVVSV
  AGELKVWDLSSSINSIQEKQDVYEKESKFLESLNCQTIRFCTYTERLLLVVFSKCWKVYD
  YCDFSLLLTEVSRNGQFFAGGEVIAAHRILIWTEDGHSYIYQLLNSGLSKSIYPADGRVL
  KETIYPHLLCSTSVQENKEQSRPFVMGYMNERKEPFYKVLFSGEVSGRITLWHIPDVPVS
  KFDGSPREIPVTATWTLQDNFDKHDTMSQSIIDYFSGLKDGAGTAVVTSSEYIPSLDKLI
  CGCEDGTIIITQALNAAKARLLEGGSLVKDSPPHKVLKGHHQSVTSLLYPHGLSSKLDQS
  WMLSGDLDSCVILWDIFTEEILHKFFLEAGPVTSLLMSPEKFKLRGEQIICCVCGDHSVA
  LLHLEGKSCLLHARKHLFPVRMIKWHPVENFLIVGCADDSVYIWEIETGTLERHETGERA
  RIILNCCDDSQLVKSVLPIASETLKHKSIEQRSSSPYQLGPLPCPGLQVESSCKVTDAKF
  CPRPFNVLPVKTKWSNVGFHILLFDLENLVELLLPTPLSDVDSSSSFYGGEVLRRAKSTV
  EKKTLTLRKSKTACGPLSAEALAKPITESLAQGDNTIKFSEENDGIKRQKKMKISKKMQP
  KPSRKVDASLTIDTAKLFLSCLLPWGVDKDLDYLCIKHLNILKLQGPISLGISLNEDNFS
  LMLPGWDLCNSGMIKDYSGVNLFSRKVLDLSDKYTATLPNQVGIPRGLENNCDSLRESDT
  IVYLLSRLFLVNKLVNMPLELACRVGSSFRMESIHNKMRGAGNDILNMSSFYSCLRNGKN
  ESHVPEADLSLLKLISCWRDQSVQVTEAIQAVLLAEVQQHMKSLGKIPVNSQPVSMAENG
  NCEMKQMLPKLEWTEELELQCVRNTLPLQTPVSPVKHDSNSNSANFQDVEDMPDRCALEE
  SESPGEPRHHSWIAKVCPCKVS

• Sequence length: 1102

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
Amelogenesis imperfecta	Pathogenic; Likely pathogenic	rs2543070545, rs764406738, rs2542089179, rs779460257, rs770804941	RCV003313811 RCV003314736 RCV003314737 RCV004018350 RCV000604368	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis imperfecta hypomaturation type 2A3	Pathogenic; Likely pathogenic	rs267607178, rs143816093, rs606231351, rs606231462, rs142154661, rs2542109823, rs757690372, rs756471926, rs2543065306, rs2017517553, rs1431736022, rs779460257, rs770804941, rs557128345	RCV000000255 RCV000000256 RCV000000257 RCV000148931 RCV003154853 RCV003154854 RCV003154857 RCV003154858 RCV003232053 RCV003989994 RCV003990417 RCV005006363 RCV002272302 RCV002491342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal renal tubular acidosis	Likely pathogenic; Pathogenic	rs1469562355, rs2140558454	RCV001849578 RCV001849708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypophosphatemic rickets	Likely pathogenic; Pathogenic	rs1469562355	RCV001845037	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular acidosis, distal, 4, with hemolytic anemia	Pathogenic	rs557128345, rs768446132	RCV000677370 RCV000677369	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubulopathies	Pathogenic	rs606231351	RCV006272126	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOMATURATION AMELOGENESIS IMPERFECTA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WDR72-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	19853237, 20938048, 21196691, 21597265, 22243262, 25008349, 27259663, 30779877		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	20938048, 21196691, 21597265, 22243262, 30779877, 31959358, 35181734	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis Imperfecta hypomaturation type	Amelogenesis Imperfecta	ORPHANET_DG	19853237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta hypomaturation type	Amelogenesis imperfecta	Pubtator	19853237, 20938048, 21196691	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Hypomaturation Type Iia3	Amelogenesis imperfecta	Pubtator	30779877	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta	CLINVAR_DG	19853237, 30028003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	27259663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33234734, 38048211	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20383146		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146, 22479191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32749190, 37158531	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21294870		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30552240	Associate	★☆☆☆☆ Found in Text Mining only
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	BEFREE	30028003		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	GENOMICS_ENGLAND_DG	30028003		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26631031	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypomaturation amelogenesis imperfecta	Hypomaturation Amelogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	38287425	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30476138		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146, 29124443, 31152163		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37197572	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26631031		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30476138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	GWASCAT_DG	31482010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	CLINVAR_DG	30028003		★☆☆☆☆ Found in Text Mining only