FAM111A (FAM111 trypsin like peptidase A)

Gene

• Entrez ID: 63901
• Gene name: FAM111 trypsin like peptidase A
• Gene symbol: FAM111A
• Synonyms: GCLEB, KCS2
• Chromosome: 11
• Chromosome location: 11q12.1
• Summary: The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-loca

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777011	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587777012	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587777013	A>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs587777014	A>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs587777015	C>A,G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1565206032	TTC>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016290	hsa-miR-193b-3p	Microarray	20304954
MIRT977194	hsa-miR-1183	CLIP-seq
MIRT977195	hsa-miR-1273f	CLIP-seq
MIRT977196	hsa-miR-143	CLIP-seq
MIRT977197	hsa-miR-3074-5p	CLIP-seq
MIRT977198	hsa-miR-3137	CLIP-seq
MIRT977199	hsa-miR-3646	CLIP-seq
MIRT977200	hsa-miR-4423-3p	CLIP-seq
MIRT977201	hsa-miR-4708-5p	CLIP-seq
MIRT977202	hsa-miR-4770	CLIP-seq
MIRT977203	hsa-miR-4793-3p	CLIP-seq
MIRT977204	hsa-miR-548p	CLIP-seq
MIRT977205	hsa-miR-659	CLIP-seq
MIRT977206	hsa-miR-1273	CLIP-seq
MIRT977207	hsa-miR-1827	CLIP-seq
MIRT977208	hsa-miR-3145-5p	CLIP-seq
MIRT977209	hsa-miR-3165	CLIP-seq
MIRT977210	hsa-miR-3202	CLIP-seq
MIRT977211	hsa-miR-3665	CLIP-seq
MIRT977212	hsa-miR-3914	CLIP-seq
MIRT977213	hsa-miR-4433	CLIP-seq
MIRT977214	hsa-miR-4459	CLIP-seq
MIRT977215	hsa-miR-4493	CLIP-seq
MIRT977216	hsa-miR-4533	CLIP-seq
MIRT977217	hsa-miR-4690-3p	CLIP-seq
MIRT977218	hsa-miR-4736	CLIP-seq
MIRT977219	hsa-miR-4768-3p	CLIP-seq
MIRT977220	hsa-miR-494	CLIP-seq
MIRT977221	hsa-miR-508-5p	CLIP-seq
MIRT977222	hsa-miR-520d-5p	CLIP-seq
MIRT977223	hsa-miR-524-5p	CLIP-seq
MIRT977224	hsa-miR-633	CLIP-seq
MIRT977225	hsa-miR-766	CLIP-seq
MIRT977226	hsa-miR-940	CLIP-seq
MIRT977227	hsa-miR-1245b-3p	CLIP-seq
MIRT977228	hsa-miR-188-5p	CLIP-seq
MIRT977229	hsa-miR-3124-3p	CLIP-seq
MIRT977230	hsa-miR-3152-5p	CLIP-seq
MIRT977231	hsa-miR-3185	CLIP-seq
MIRT977232	hsa-miR-3658	CLIP-seq
MIRT977233	hsa-miR-3664-3p	CLIP-seq
MIRT977234	hsa-miR-3685	CLIP-seq
MIRT977235	hsa-miR-369-3p	CLIP-seq
MIRT977236	hsa-miR-384	CLIP-seq
MIRT977213	hsa-miR-4433	CLIP-seq
MIRT977237	hsa-miR-4438	CLIP-seq
MIRT977214	hsa-miR-4459	CLIP-seq
MIRT977238	hsa-miR-4662a-3p	CLIP-seq
MIRT977239	hsa-miR-4687-3p	CLIP-seq
MIRT977219	hsa-miR-4768-3p	CLIP-seq
MIRT977240	hsa-miR-4774-3p	CLIP-seq
MIRT977241	hsa-miR-4780	CLIP-seq
MIRT977242	hsa-miR-563	CLIP-seq
MIRT977243	hsa-miR-600	CLIP-seq
MIRT977244	hsa-miR-623	CLIP-seq
MIRT977224	hsa-miR-633	CLIP-seq
MIRT977245	hsa-miR-767-3p	CLIP-seq
MIRT1548485	hsa-miR-4795-3p	CLIP-seq
MIRT1548485	hsa-miR-4795-3p	CLIP-seq
MIRT1989633	hsa-miR-1272	CLIP-seq
MIRT1989634	hsa-miR-1322	CLIP-seq
MIRT977232	hsa-miR-3658	CLIP-seq
MIRT977235	hsa-miR-369-3p	CLIP-seq
MIRT1989635	hsa-miR-4517	CLIP-seq
MIRT977238	hsa-miR-4662a-3p	CLIP-seq
MIRT1989636	hsa-miR-4728-5p	CLIP-seq
MIRT1989637	hsa-miR-548k	CLIP-seq
MIRT2223950	hsa-miR-410	CLIP-seq
MIRT2223951	hsa-miR-1282	CLIP-seq
MIRT977230	hsa-miR-3152-5p	CLIP-seq
MIRT977240	hsa-miR-4774-3p	CLIP-seq
MIRT977194	hsa-miR-1183	CLIP-seq
MIRT2387680	hsa-miR-1208	CLIP-seq
MIRT977207	hsa-miR-1827	CLIP-seq
MIRT2387681	hsa-miR-298	CLIP-seq
MIRT977197	hsa-miR-3074-5p	CLIP-seq
MIRT977198	hsa-miR-3137	CLIP-seq
MIRT2387682	hsa-miR-3158-5p	CLIP-seq
MIRT977210	hsa-miR-3202	CLIP-seq
MIRT2387683	hsa-miR-3617	CLIP-seq
MIRT977215	hsa-miR-4493	CLIP-seq
MIRT2387684	hsa-miR-452	CLIP-seq
MIRT977216	hsa-miR-4533	CLIP-seq
MIRT2387685	hsa-miR-4676-3p	CLIP-seq
MIRT1989636	hsa-miR-4728-5p	CLIP-seq
MIRT977203	hsa-miR-4793-3p	CLIP-seq
MIRT977204	hsa-miR-548p	CLIP-seq
MIRT2387686	hsa-miR-548u	CLIP-seq
MIRT2387687	hsa-miR-641	CLIP-seq
MIRT977205	hsa-miR-659	CLIP-seq
MIRT977206	hsa-miR-1273	CLIP-seq
MIRT2223951	hsa-miR-1282	CLIP-seq
MIRT2449073	hsa-miR-2054	CLIP-seq
MIRT977208	hsa-miR-3145-5p	CLIP-seq
MIRT977230	hsa-miR-3152-5p	CLIP-seq
MIRT977210	hsa-miR-3202	CLIP-seq
MIRT977233	hsa-miR-3664-3p	CLIP-seq
MIRT977213	hsa-miR-4433	CLIP-seq
MIRT977214	hsa-miR-4459	CLIP-seq
MIRT977215	hsa-miR-4493	CLIP-seq
MIRT2449074	hsa-miR-4499	CLIP-seq
MIRT977216	hsa-miR-4533	CLIP-seq
MIRT977217	hsa-miR-4690-3p	CLIP-seq
MIRT977219	hsa-miR-4768-3p	CLIP-seq
MIRT977240	hsa-miR-4774-3p	CLIP-seq
MIRT977221	hsa-miR-508-5p	CLIP-seq
MIRT977225	hsa-miR-766	CLIP-seq
MIRT977245	hsa-miR-767-3p	CLIP-seq
MIRT2223951	hsa-miR-1282	CLIP-seq
MIRT977230	hsa-miR-3152-5p	CLIP-seq
MIRT977233	hsa-miR-3664-3p	CLIP-seq
MIRT977213	hsa-miR-4433	CLIP-seq
MIRT977214	hsa-miR-4459	CLIP-seq
MIRT2449074	hsa-miR-4499	CLIP-seq
MIRT977219	hsa-miR-4768-3p	CLIP-seq
MIRT977240	hsa-miR-4774-3p	CLIP-seq
MIRT977245	hsa-miR-767-3p	CLIP-seq
MIRT2527742	hsa-miR-10a	CLIP-seq
MIRT2527743	hsa-miR-10b	CLIP-seq
MIRT2527744	hsa-miR-1202	CLIP-seq
MIRT2387680	hsa-miR-1208	CLIP-seq
MIRT2223951	hsa-miR-1282	CLIP-seq
MIRT2527745	hsa-miR-1286	CLIP-seq
MIRT2527746	hsa-miR-1321	CLIP-seq
MIRT977207	hsa-miR-1827	CLIP-seq
MIRT2527747	hsa-miR-2052	CLIP-seq
MIRT2449073	hsa-miR-2054	CLIP-seq
MIRT2527748	hsa-miR-2114	CLIP-seq
MIRT2387681	hsa-miR-298	CLIP-seq
MIRT977208	hsa-miR-3145-5p	CLIP-seq
MIRT977230	hsa-miR-3152-5p	CLIP-seq
MIRT2387682	hsa-miR-3158-5p	CLIP-seq
MIRT2527749	hsa-miR-3160-3p	CLIP-seq
MIRT977209	hsa-miR-3165	CLIP-seq
MIRT2527750	hsa-miR-3182	CLIP-seq
MIRT2527751	hsa-miR-3190	CLIP-seq
MIRT2527752	hsa-miR-3192	CLIP-seq
MIRT2527753	hsa-miR-3194-5p	CLIP-seq
MIRT977210	hsa-miR-3202	CLIP-seq
MIRT2527754	hsa-miR-339-5p	CLIP-seq
MIRT2527755	hsa-miR-3613-3p	CLIP-seq
MIRT2387683	hsa-miR-3617	CLIP-seq
MIRT977233	hsa-miR-3664-3p	CLIP-seq
MIRT977211	hsa-miR-3665	CLIP-seq
MIRT2527756	hsa-miR-3667-5p	CLIP-seq
MIRT977234	hsa-miR-3685	CLIP-seq
MIRT2527757	hsa-miR-3689a-3p	CLIP-seq
MIRT2527758	hsa-miR-3689c	CLIP-seq
MIRT2527759	hsa-miR-3689d	CLIP-seq
MIRT2527760	hsa-miR-3690	CLIP-seq
MIRT977236	hsa-miR-384	CLIP-seq
MIRT2527761	hsa-miR-3913-3p	CLIP-seq
MIRT2527762	hsa-miR-3972	CLIP-seq
MIRT2527763	hsa-miR-3978	CLIP-seq
MIRT2527764	hsa-miR-4263	CLIP-seq
MIRT2527765	hsa-miR-4274	CLIP-seq
MIRT2527766	hsa-miR-4282	CLIP-seq
MIRT2527767	hsa-miR-4292	CLIP-seq
MIRT2527768	hsa-miR-4308	CLIP-seq
MIRT2527769	hsa-miR-4419a	CLIP-seq
MIRT2527770	hsa-miR-4421	CLIP-seq
MIRT2527771	hsa-miR-4427	CLIP-seq
MIRT977213	hsa-miR-4433	CLIP-seq
MIRT977237	hsa-miR-4438	CLIP-seq
MIRT977214	hsa-miR-4459	CLIP-seq
MIRT2527772	hsa-miR-4487	CLIP-seq
MIRT977215	hsa-miR-4493	CLIP-seq
MIRT2527773	hsa-miR-4510	CLIP-seq
MIRT1989635	hsa-miR-4517	CLIP-seq
MIRT2387684	hsa-miR-452	CLIP-seq
MIRT977216	hsa-miR-4533	CLIP-seq
MIRT2527774	hsa-miR-4535	CLIP-seq
MIRT2527775	hsa-miR-4639-3p	CLIP-seq
MIRT2387685	hsa-miR-4676-3p	CLIP-seq
MIRT2527776	hsa-miR-4680-3p	CLIP-seq
MIRT2527777	hsa-miR-4684-5p	CLIP-seq
MIRT977239	hsa-miR-4687-3p	CLIP-seq
MIRT977217	hsa-miR-4690-3p	CLIP-seq
MIRT2527778	hsa-miR-4699-5p	CLIP-seq
MIRT2527779	hsa-miR-4722-5p	CLIP-seq
MIRT1989636	hsa-miR-4728-5p	CLIP-seq
MIRT977218	hsa-miR-4736	CLIP-seq
MIRT2527780	hsa-miR-4739	CLIP-seq
MIRT2527781	hsa-miR-4756-5p	CLIP-seq
MIRT977219	hsa-miR-4768-3p	CLIP-seq
MIRT977240	hsa-miR-4774-3p	CLIP-seq
MIRT2527782	hsa-miR-4799-5p	CLIP-seq
MIRT2527783	hsa-miR-489	CLIP-seq
MIRT2527784	hsa-miR-490-3p	CLIP-seq
MIRT2527785	hsa-miR-492	CLIP-seq
MIRT2527786	hsa-miR-498	CLIP-seq
MIRT2527787	hsa-miR-499-3p	CLIP-seq
MIRT2527788	hsa-miR-499a-3p	CLIP-seq
MIRT977221	hsa-miR-508-5p	CLIP-seq
MIRT2527789	hsa-miR-548c-3p	CLIP-seq
MIRT2387686	hsa-miR-548u	CLIP-seq
MIRT2527790	hsa-miR-558	CLIP-seq
MIRT2527791	hsa-miR-576-5p	CLIP-seq
MIRT2527792	hsa-miR-593	CLIP-seq
MIRT977243	hsa-miR-600	CLIP-seq
MIRT2387687	hsa-miR-641	CLIP-seq
MIRT977225	hsa-miR-766	CLIP-seq
MIRT977245	hsa-miR-767-3p	CLIP-seq
MIRT977226	hsa-miR-940	CLIP-seq
MIRT2527742	hsa-miR-10a	CLIP-seq
MIRT2527743	hsa-miR-10b	CLIP-seq
MIRT2527744	hsa-miR-1202	CLIP-seq
MIRT2387680	hsa-miR-1208	CLIP-seq
MIRT2223951	hsa-miR-1282	CLIP-seq
MIRT2527745	hsa-miR-1286	CLIP-seq
MIRT2527746	hsa-miR-1321	CLIP-seq
MIRT977207	hsa-miR-1827	CLIP-seq
MIRT2527747	hsa-miR-2052	CLIP-seq
MIRT2449073	hsa-miR-2054	CLIP-seq
MIRT2527748	hsa-miR-2114	CLIP-seq
MIRT2387681	hsa-miR-298	CLIP-seq
MIRT977230	hsa-miR-3152-5p	CLIP-seq
MIRT2387682	hsa-miR-3158-5p	CLIP-seq
MIRT2527749	hsa-miR-3160-3p	CLIP-seq
MIRT977209	hsa-miR-3165	CLIP-seq
MIRT2527750	hsa-miR-3182	CLIP-seq
MIRT2527751	hsa-miR-3190	CLIP-seq
MIRT2527752	hsa-miR-3192	CLIP-seq
MIRT2527753	hsa-miR-3194-5p	CLIP-seq
MIRT977210	hsa-miR-3202	CLIP-seq
MIRT2527754	hsa-miR-339-5p	CLIP-seq
MIRT2527755	hsa-miR-3613-3p	CLIP-seq
MIRT2387683	hsa-miR-3617	CLIP-seq
MIRT977233	hsa-miR-3664-3p	CLIP-seq
MIRT977211	hsa-miR-3665	CLIP-seq
MIRT2527756	hsa-miR-3667-5p	CLIP-seq
MIRT977234	hsa-miR-3685	CLIP-seq
MIRT2527757	hsa-miR-3689a-3p	CLIP-seq
MIRT2527758	hsa-miR-3689c	CLIP-seq
MIRT2527759	hsa-miR-3689d	CLIP-seq
MIRT2527760	hsa-miR-3690	CLIP-seq
MIRT977236	hsa-miR-384	CLIP-seq
MIRT2527761	hsa-miR-3913-3p	CLIP-seq
MIRT2527762	hsa-miR-3972	CLIP-seq
MIRT2527763	hsa-miR-3978	CLIP-seq
MIRT2527764	hsa-miR-4263	CLIP-seq
MIRT2527765	hsa-miR-4274	CLIP-seq
MIRT2527767	hsa-miR-4292	CLIP-seq
MIRT2527768	hsa-miR-4308	CLIP-seq
MIRT2527769	hsa-miR-4419a	CLIP-seq
MIRT2527770	hsa-miR-4421	CLIP-seq
MIRT2527771	hsa-miR-4427	CLIP-seq
MIRT977213	hsa-miR-4433	CLIP-seq
MIRT977237	hsa-miR-4438	CLIP-seq
MIRT977214	hsa-miR-4459	CLIP-seq
MIRT2527772	hsa-miR-4487	CLIP-seq
MIRT977215	hsa-miR-4493	CLIP-seq
MIRT2527773	hsa-miR-4510	CLIP-seq
MIRT1989635	hsa-miR-4517	CLIP-seq
MIRT2387684	hsa-miR-452	CLIP-seq
MIRT977216	hsa-miR-4533	CLIP-seq
MIRT2527774	hsa-miR-4535	CLIP-seq
MIRT2527775	hsa-miR-4639-3p	CLIP-seq
MIRT2387685	hsa-miR-4676-3p	CLIP-seq
MIRT2527776	hsa-miR-4680-3p	CLIP-seq
MIRT2527777	hsa-miR-4684-5p	CLIP-seq
MIRT977239	hsa-miR-4687-3p	CLIP-seq
MIRT2527778	hsa-miR-4699-5p	CLIP-seq
MIRT2527779	hsa-miR-4722-5p	CLIP-seq
MIRT1989636	hsa-miR-4728-5p	CLIP-seq
MIRT977218	hsa-miR-4736	CLIP-seq
MIRT2527780	hsa-miR-4739	CLIP-seq
MIRT2527781	hsa-miR-4756-5p	CLIP-seq
MIRT977219	hsa-miR-4768-3p	CLIP-seq
MIRT977240	hsa-miR-4774-3p	CLIP-seq
MIRT2527782	hsa-miR-4799-5p	CLIP-seq
MIRT2527783	hsa-miR-489	CLIP-seq
MIRT2527784	hsa-miR-490-3p	CLIP-seq
MIRT2527785	hsa-miR-492	CLIP-seq
MIRT2527786	hsa-miR-498	CLIP-seq
MIRT2527787	hsa-miR-499-3p	CLIP-seq
MIRT2527788	hsa-miR-499a-3p	CLIP-seq
MIRT2527789	hsa-miR-548c-3p	CLIP-seq
MIRT2387686	hsa-miR-548u	CLIP-seq
MIRT2527790	hsa-miR-558	CLIP-seq
MIRT2527791	hsa-miR-576-5p	CLIP-seq
MIRT2527792	hsa-miR-593	CLIP-seq
MIRT977243	hsa-miR-600	CLIP-seq
MIRT2387687	hsa-miR-641	CLIP-seq
MIRT977245	hsa-miR-767-3p	CLIP-seq
MIRT977226	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA	21873635
GO:0000785	Component	Chromatin	IDA	24561620
GO:0001650	Component	Fibrillar center	IDA
GO:0003697	Function	Single-stranded DNA binding	IDA	32165630
GO:0005515	Function	Protein binding	IPI	23093934, 24561620
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	23093934, 24561620
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	23093934
GO:0006260	Process	DNA replication	IBA	21873635
GO:0006260	Process	DNA replication	IMP	24561620
GO:0006508	Process	Proteolysis	IDA	32165630
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	32165630
GO:0008233	Function	Peptidase activity	IEA
GO:0016032	Process	Viral process	IEA
GO:0016540	Process	Protein autoprocessing	IDA	32165630
GO:0031297	Process	Replication fork processing	IDA	32165630
GO:0045071	Process	Negative regulation of viral genome replication	IMP	23093934
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IDA	32165630

Other IDs

• MIM: 615292
• HGNC: 24725
• e!Ensembl: ENSG00000166801

Protein

• UniProt ID: Q96PZ2
• Protein name: Serine protease FAM111A (EC 3.4.21.-)
• Protein function: Single-stranded DNA-binding serine protease that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:32165630). DPCs are highly to
• PDB: 8S9K, 8S9L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13365	Trypsin_2	370 → 555		Domain

• Sequence:

  MSCKKQRSRKHSVNEKCNMKIEHYFSPVSKEQQNNCSTSLMRMESRGDPRATTNTQAQRF
  HSPKKNPEDQTMPQNRTIYVTLKVNHRRNQDMKLKLTHSENSSLYMALNTLQAVRKEIET
  HQGQEMLVRGTEGIKEYINLGMPLSCFPEGGQVVITFSQSKSKQKEDNHIFGRQDKASTE
  CVKFYIHAIGIGKCKRRIVKCGKLHKKGRKLCVYAFKGETIKDALCKDGRFLSFLENDDW
  KLIENNDTILESTQPVDELEGRYFQVEVEKRMVPSAAASQNPESEKRNTCVLREQIVAQY
  PSLKRESEKIIENFKKKMKVKNGETLFELHRTTFGKVTKNSSSIKVVKLLVRLSDSVGYL
  FWDSATTGYATCFVFKGLFILTCRHVIDSIVGDGIEPSKWATIIGQCVRVTFGYEELKDK
  ETNYFFVEPWFEIHNEELDYAVLKLKENGQQVPMELYNGITPVPLSGLIHIIGHPYGEKK
  QIDACAVIPQGQRAKKCQERVQSKKAESPEYVHMYTQRSFQKIVHNPDVITYDTEFFFGA
  SGSPVFDSKGSLVAMHAAGFAYTYQNETRSIIEFGSTMESILLDIKQRHKPWYEEVFVNQ
  QDVEMMSDEDL

• Sequence length: 611

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Kenny-caffey syndrome	Kenny-Caffey syndrome, Kenny-Caffey syndrome, type 2, Autosomal dominant Kenny-Caffey syndrome	rs767004810, rs587777011, rs1565206032, rs200356271	23684011, 23684011, 23996431, 24635597
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Microphthalmos	Microphthalmos, Bilateral microphthalmos	rs794726862, rs1329285216
Osteocraniostenosis	Osteocraniostenosis	rs587777011, rs1565206032, rs587777013, rs587777014, rs587777015

Unknown
Disease name	Disease term	dbSNP ID	References
Ankyloglossia	Ankyloglossia
Congenital hypoparathyroidism	Congenital hypoparathyroidism
Defect of skull ossification	Defect of skull ossification
Disorder of macula of retina	Disorder of macula of retina
Dwarfism	Dwarfism
Gracile bone dysplasia	Gracile bone dysplasia		23684011
Hyperopia	Hyperopia
Hyperphosphatemia	Hyperphosphatemia (disorder)
Hypocalcemic seizures	Hypocalcemic seizures
Hypocalcemic tetany	Hypocalcemic tetany
Osteosclerosis	Osteosclerosis
Papilledema	Papilledema
Penis agenesis	Penis agenesis
Stenosis of the medullary cavity of the long bones	Stenosis of the medullary cavity of the long bones