GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

MAFB (MAF bZIP transcription factor B)

Gene

9935

MAF bZIP transcription factor B

MAFB

DURS3, KRML, MCTO

20q12

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specifi

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907004	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs387907005	A>C	Pathogenic	Coding sequence variant, missense variant
rs387907006	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907007	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907008	G>A	Pathogenic	Coding sequence variant, missense variant
rs730880014	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255275	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs879255276	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs879255277	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555826433	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555826446	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600429244	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1600429262	G>A	Pathogenic	Coding sequence variant, missense variant
rs1600429281	G>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(285)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001141	hsa-miR-130a-3p	Luciferase reporter assay	16549775
MIRT004507	hsa-miR-155-5p	Microarray	19193853
MIRT005442	hsa-miR-135b-5p	Luciferase reporter assay, Microarray, qRT-PCR	20981674
MIRT016975	hsa-miR-335-5p	Microarray	18185580
MIRT001141	hsa-miR-130a-3p	Reporter assay	16549775
MIRT004507	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	22797699
MIRT004507	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	22797699
MIRT437409	hsa-miR-148a-3p	Luciferase reporter assay	23225151
MIRT437409	hsa-miR-148a-3p	Luciferase reporter assay	23225151
MIRT438426	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438425	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438424	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438003	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	24391856
MIRT438426	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438425	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438424	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438003	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	24391856
MIRT1125284	hsa-miR-1284	CLIP-seq
MIRT1125285	hsa-miR-1302	CLIP-seq
MIRT1125286	hsa-miR-130a	CLIP-seq
MIRT1125287	hsa-miR-130b	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT1125291	hsa-miR-181a	CLIP-seq
MIRT1125292	hsa-miR-181b	CLIP-seq
MIRT1125293	hsa-miR-181c	CLIP-seq
MIRT1125294	hsa-miR-181d	CLIP-seq
MIRT1125295	hsa-miR-223	CLIP-seq
MIRT1125296	hsa-miR-2276	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT1125300	hsa-miR-300	CLIP-seq
MIRT1125301	hsa-miR-301a	CLIP-seq
MIRT1125302	hsa-miR-301b	CLIP-seq
MIRT1125303	hsa-miR-3185	CLIP-seq
MIRT1125304	hsa-miR-3666	CLIP-seq
MIRT1125305	hsa-miR-381	CLIP-seq
MIRT1125306	hsa-miR-3922-5p	CLIP-seq
MIRT1125307	hsa-miR-3940-5p	CLIP-seq
MIRT1125308	hsa-miR-4262	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125310	hsa-miR-4274	CLIP-seq
MIRT1125311	hsa-miR-4276	CLIP-seq
MIRT1125312	hsa-miR-4295	CLIP-seq
MIRT1125313	hsa-miR-4298	CLIP-seq
MIRT1125314	hsa-miR-4303	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT1125316	hsa-miR-4490	CLIP-seq
MIRT1125317	hsa-miR-4507	CLIP-seq
MIRT1125318	hsa-miR-4519	CLIP-seq
MIRT1125319	hsa-miR-454	CLIP-seq
MIRT1125320	hsa-miR-4648	CLIP-seq
MIRT1125321	hsa-miR-4666-3p	CLIP-seq
MIRT1125322	hsa-miR-4697-3p	CLIP-seq
MIRT1125323	hsa-miR-4774-5p	CLIP-seq
MIRT1125324	hsa-miR-500a	CLIP-seq
MIRT1125325	hsa-miR-501-5p	CLIP-seq
MIRT1125326	hsa-miR-548a-3p	CLIP-seq
MIRT1125327	hsa-miR-548e	CLIP-seq
MIRT1125328	hsa-miR-548f	CLIP-seq
MIRT1125329	hsa-miR-605	CLIP-seq
MIRT1125330	hsa-miR-606	CLIP-seq
MIRT1125331	hsa-miR-629	CLIP-seq
MIRT1125332	hsa-miR-659	CLIP-seq
MIRT1125333	hsa-miR-720	CLIP-seq
MIRT1125334	hsa-miR-767-5p	CLIP-seq
MIRT1125335	hsa-miR-891b	CLIP-seq
MIRT1125296	hsa-miR-2276	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT1125321	hsa-miR-4666-3p	CLIP-seq
MIRT1551019	hsa-miR-485-3p	CLIP-seq
MIRT1125326	hsa-miR-548a-3p	CLIP-seq
MIRT1125327	hsa-miR-548e	CLIP-seq
MIRT1125328	hsa-miR-548f	CLIP-seq
MIRT1125334	hsa-miR-767-5p	CLIP-seq
MIRT2035352	hsa-miR-1181	CLIP-seq
MIRT2035353	hsa-miR-1229	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT2035356	hsa-miR-3065-3p	CLIP-seq
MIRT2035357	hsa-miR-3124-3p	CLIP-seq
MIRT2035358	hsa-miR-3180	CLIP-seq
MIRT2035359	hsa-miR-3180-3p	CLIP-seq
MIRT2035360	hsa-miR-3196	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2035363	hsa-miR-624	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2035365	hsa-miR-744	CLIP-seq
MIRT2265847	hsa-miR-105	CLIP-seq
MIRT2265848	hsa-miR-1207-3p	CLIP-seq
MIRT2265849	hsa-miR-1292	CLIP-seq
MIRT1125286	hsa-miR-130a	CLIP-seq
MIRT1125287	hsa-miR-130b	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT1125295	hsa-miR-223	CLIP-seq
MIRT1125296	hsa-miR-2276	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT1125301	hsa-miR-301a	CLIP-seq
MIRT1125302	hsa-miR-301b	CLIP-seq
MIRT2035358	hsa-miR-3180	CLIP-seq
MIRT2035359	hsa-miR-3180-3p	CLIP-seq
MIRT2035360	hsa-miR-3196	CLIP-seq
MIRT1125304	hsa-miR-3666	CLIP-seq
MIRT2265850	hsa-miR-410	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125312	hsa-miR-4295	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT2265851	hsa-miR-4471	CLIP-seq
MIRT2265852	hsa-miR-4502	CLIP-seq
MIRT1125319	hsa-miR-454	CLIP-seq
MIRT1125321	hsa-miR-4666-3p	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2265853	hsa-miR-4690-5p	CLIP-seq
MIRT1125322	hsa-miR-4697-3p	CLIP-seq
MIRT2265854	hsa-miR-4699-3p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2265855	hsa-miR-4742-5p	CLIP-seq
MIRT2265856	hsa-miR-4755-3p	CLIP-seq
MIRT1551019	hsa-miR-485-3p	CLIP-seq
MIRT1125326	hsa-miR-548a-3p	CLIP-seq
MIRT2265857	hsa-miR-548c-3p	CLIP-seq
MIRT1125327	hsa-miR-548e	CLIP-seq
MIRT1125328	hsa-miR-548f	CLIP-seq
MIRT2265858	hsa-miR-640	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2035365	hsa-miR-744	CLIP-seq
MIRT1125334	hsa-miR-767-5p	CLIP-seq
MIRT1125335	hsa-miR-891b	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2465603	hsa-miR-324-5p	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2265847	hsa-miR-105	CLIP-seq
MIRT2035353	hsa-miR-1229	CLIP-seq
MIRT2565184	hsa-miR-1236	CLIP-seq
MIRT2565185	hsa-miR-1237	CLIP-seq
MIRT2565186	hsa-miR-1238	CLIP-seq
MIRT2565187	hsa-miR-1248	CLIP-seq
MIRT2565188	hsa-miR-1252	CLIP-seq
MIRT2565189	hsa-miR-1266	CLIP-seq
MIRT2565190	hsa-miR-1281	CLIP-seq
MIRT2265849	hsa-miR-1292	CLIP-seq
MIRT2565191	hsa-miR-1343	CLIP-seq
MIRT2565192	hsa-miR-188-5p	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2565193	hsa-miR-2114	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT2035356	hsa-miR-3065-3p	CLIP-seq
MIRT2565194	hsa-miR-3065-5p	CLIP-seq
MIRT2035357	hsa-miR-3124-3p	CLIP-seq
MIRT2565195	hsa-miR-3125	CLIP-seq
MIRT2565196	hsa-miR-3148	CLIP-seq
MIRT2565197	hsa-miR-3154	CLIP-seq
MIRT2035358	hsa-miR-3180	CLIP-seq
MIRT2035359	hsa-miR-3180-3p	CLIP-seq
MIRT2035360	hsa-miR-3196	CLIP-seq
MIRT2465603	hsa-miR-324-5p	CLIP-seq
MIRT2565198	hsa-miR-3613-3p	CLIP-seq
MIRT2565199	hsa-miR-3615	CLIP-seq
MIRT2565200	hsa-miR-3649	CLIP-seq
MIRT2565201	hsa-miR-3667-3p	CLIP-seq
MIRT2565202	hsa-miR-3671	CLIP-seq
MIRT2565203	hsa-miR-371b-5p	CLIP-seq
MIRT2565204	hsa-miR-374c	CLIP-seq
MIRT2565205	hsa-miR-3916	CLIP-seq
MIRT2565206	hsa-miR-4450	CLIP-seq
MIRT2265851	hsa-miR-4471	CLIP-seq
MIRT2565207	hsa-miR-4475	CLIP-seq
MIRT2565208	hsa-miR-4518	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2565209	hsa-miR-4533	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2565210	hsa-miR-4747-5p	CLIP-seq
MIRT2565211	hsa-miR-4751	CLIP-seq
MIRT2565212	hsa-miR-4763-5p	CLIP-seq
MIRT2565213	hsa-miR-4768-5p	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2565214	hsa-miR-518a-3p	CLIP-seq
MIRT2565215	hsa-miR-518b	CLIP-seq
MIRT2565216	hsa-miR-518c	CLIP-seq
MIRT2565217	hsa-miR-518d-3p	CLIP-seq
MIRT2565218	hsa-miR-518f	CLIP-seq
MIRT2565219	hsa-miR-522	CLIP-seq
MIRT2265857	hsa-miR-548c-3p	CLIP-seq
MIRT2565220	hsa-miR-561	CLIP-seq
MIRT2565221	hsa-miR-570	CLIP-seq
MIRT2565222	hsa-miR-583	CLIP-seq
MIRT2565223	hsa-miR-607	CLIP-seq
MIRT2035363	hsa-miR-624	CLIP-seq
MIRT2265858	hsa-miR-640	CLIP-seq
MIRT2565224	hsa-miR-642a	CLIP-seq
MIRT2565225	hsa-miR-655	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2035365	hsa-miR-744	CLIP-seq
MIRT2565226	hsa-miR-888	CLIP-seq
MIRT1125335	hsa-miR-891b	CLIP-seq
MIRT2265847	hsa-miR-105	CLIP-seq
MIRT2035353	hsa-miR-1229	CLIP-seq
MIRT2565185	hsa-miR-1237	CLIP-seq
MIRT2565187	hsa-miR-1248	CLIP-seq
MIRT2565188	hsa-miR-1252	CLIP-seq
MIRT2565190	hsa-miR-1281	CLIP-seq
MIRT2265849	hsa-miR-1292	CLIP-seq
MIRT2565192	hsa-miR-188-5p	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2565193	hsa-miR-2114	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT2684400	hsa-miR-28-5p	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT2035356	hsa-miR-3065-3p	CLIP-seq
MIRT2565194	hsa-miR-3065-5p	CLIP-seq
MIRT2565195	hsa-miR-3125	CLIP-seq
MIRT2684401	hsa-miR-3139	CLIP-seq
MIRT2565196	hsa-miR-3148	CLIP-seq
MIRT2465603	hsa-miR-324-5p	CLIP-seq
MIRT2565198	hsa-miR-3613-3p	CLIP-seq
MIRT2565199	hsa-miR-3615	CLIP-seq
MIRT2684402	hsa-miR-3620	CLIP-seq
MIRT2565200	hsa-miR-3649	CLIP-seq
MIRT2565201	hsa-miR-3667-3p	CLIP-seq
MIRT2565202	hsa-miR-3671	CLIP-seq
MIRT2565203	hsa-miR-371b-5p	CLIP-seq
MIRT2565204	hsa-miR-374c	CLIP-seq
MIRT2565205	hsa-miR-3916	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT2565206	hsa-miR-4450	CLIP-seq
MIRT2265851	hsa-miR-4471	CLIP-seq
MIRT2684403	hsa-miR-4474-3p	CLIP-seq
MIRT2565207	hsa-miR-4475	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2565209	hsa-miR-4533	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2565210	hsa-miR-4747-5p	CLIP-seq
MIRT2565211	hsa-miR-4751	CLIP-seq
MIRT2265856	hsa-miR-4755-3p	CLIP-seq
MIRT2565212	hsa-miR-4763-5p	CLIP-seq
MIRT2565213	hsa-miR-4768-5p	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2565214	hsa-miR-518a-3p	CLIP-seq
MIRT2565215	hsa-miR-518b	CLIP-seq
MIRT2565216	hsa-miR-518c	CLIP-seq
MIRT2565217	hsa-miR-518d-3p	CLIP-seq
MIRT2565218	hsa-miR-518f	CLIP-seq
MIRT2265857	hsa-miR-548c-3p	CLIP-seq
MIRT2565220	hsa-miR-561	CLIP-seq
MIRT2565221	hsa-miR-570	CLIP-seq
MIRT2565222	hsa-miR-583	CLIP-seq
MIRT2565223	hsa-miR-607	CLIP-seq
MIRT2035363	hsa-miR-624	CLIP-seq
MIRT2265858	hsa-miR-640	CLIP-seq
MIRT2565225	hsa-miR-655	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2684404	hsa-miR-708	CLIP-seq
MIRT2565226	hsa-miR-888	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0005515	Function	Protein binding	IPI	10698492, 20102225, 20581830, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	27181683
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007379	Process	Segment specification	IEA
GO:0007423	Process	Sensory organ development	TAS	8001130
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0008134	Function	Transcription factor binding	IDA	10698492
GO:0021571	Process	Rhombomere 5 development	IEA
GO:0021572	Process	Rhombomere 6 development	IEA
GO:0021599	Process	Abducens nerve formation	ISS
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0035284	Process	Brain segmentation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045637	Process	Regulation of myeloid cell differentiation	IBA	21873635
GO:0045647	Process	Negative regulation of erythrocyte differentiation	IDA	8620536
GO:0045671	Process	Negative regulation of osteoclast differentiation	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048538	Process	Thymus development	IEA

MIM	HGNC	e!Ensembl
608968	6408	ENSG00000204103

Protein

UniProt ID

Q9Y5Q3

Protein name

Transcription factor MafB (Maf-B) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog B)

Protein function

Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08383	Maf_N	80 → 113	Maf N-terminal region	Family
PF03131	bZIP_Maf	211 → 302	bZIP Maf transcription factor	Coiled-coil

Sequence

MAAELSMGPELPTSPLAMEYVNDFDLLKFDVKKEPLGRAERPGRPCTRLQPAGSVSSTPL
STPCSSVPSSPSFSPTEQKTHLEDLYWMASNYQQMNPEALNLTPEDAVEALIGSHPVPQP
LQSFDSFRGAHHHHHHHHPHPHHAYPGAGVAHDELGPHAHPHHHHHHQASPPPSSAASPA
QQLPTSHPGPGPHATASATAAGGNGSVEDRFSDDQLVSMSVRELNRHLRGFTKDEVIRLK
QKRRTLKNRGYAQSCRYKRVQQKHHLENEKTQLIQQVEQLKQEVSRLARERDAYKVKCEK
LANSGFREAGSTSDSPSSPEFFL

Sequence length

323

Interactions

View interactions

	KEGG
	Parathyroid hormone synthesis, secretion and action

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	dbSNP ID	References
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Duane syndrome	Duane Retraction Syndrome, Type 2, Duane Retraction Syndrome, Type 3	rs121912792, rs121912793, rs121912794, rs121912795, rs121912796, rs121912797, rs121912798, rs387906599	27181683
Duane-radial ray syndrome	Okihiro Syndrome	rs74315424, rs1601170510, rs1601170799, rs1601168967, rs74315425, rs1601168015, rs1601171949, rs74315426, rs74315427, rs74315428, rs74315429, rs879255537, rs1555850961, rs1568864697, rs1568865283, rs1568866374, rs2078031226
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypertension	Hypertensive disease	rs13306026, rs13333226
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multicentric carpo-tarsal osteolysis with or without nephropathy	Multicentric carpo-tarsal osteolysis with or without nephropathy	rs387907004, rs387907005, rs387907006, rs387907007, rs387907008, rs730880014, rs1600429281, rs1600429262, rs1600429244
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polydactyly	Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (26)

Unknown
Disease name	Disease term	dbSNP ID	References
Blepharophimosis	Blepharophimosis
Blepharospasm	Blepharospasm
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hypoplasia of radius	Congenital hypoplasia of radius
Duane retraction syndrome	Duane Retraction Syndrome, Type 1 Duane Retraction Syndrome, DUANE RETRACTION SYNDROME 3	rs121912838, rs574270883, rs375494218, rs886055152, rs547068631, rs66480716	27181683
Duane retraction syndrome with congenital deafness	Duane retraction syndrome with congenital deafness
Duane retraction syndrome with or without deafness	DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS		23670161
Ectopic kidney	Ectopic kidney
Fundus coloboma	Fundus coloboma
Hypoplasia of optic disc	Hypoplasia of optic disc
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Microcornea	Microcornea
Micrognathism	Micrognathism
Neck webbing	Neck webbing
Oculomotor nerve palsy	Oculomotor Nerve Paralysis
Multicentric carpo tarsal osteolysis with or without nephropathy	Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy		22387013, 30430035, 27181683, 23670161
Osteopenia	Osteopenia
Plagiocephaly	Plagiocephaly
Proptosis	Exophthalmos
Ptosis	Blepharoptosis, Ptosis	rs139920573
Retinal coloboma	Coloboma of the Retina
Spina bifida occulta	Spina Bifida Occulta
Stenosis of external auditory canal	Stenosis of external auditory canal
Strabismus	Strabismus

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412