Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	63901
Gene name	FAM111 trypsin like peptidase A
Gene symbol	FAM111A
Synonyms (NCBI Gene)	GCLEBKCS2
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

Show/Hide all (6)

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

286

Show/Hide all (286)

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

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	24561620
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	32165630
GO:0005515	Function	Protein binding	IPI	23093934, 24561620
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23093934, 24561620
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	23093934
GO:0005737	Component	Cytoplasm	IEA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	24561620
GO:0006281	Process	DNA repair	IEA
GO:0006508	Process	Proteolysis	IDA	32165630
GO:0006508	Process	Proteolysis	IEA
GO:0006974	Process	DNA damage response	IDA	32165630
GO:0006974	Process	DNA damage response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016540	Process	Protein autoprocessing	IDA	32165630
GO:0016787	Function	Hydrolase activity	IEA
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

MIM	HGNC	e!Ensembl
615292	24725	ENSG00000166801

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

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Kenny-Caffey syndrome	Likely pathogenic; Pathogenic	rs587777011, rs1565206032	RCV000050209 RCV001836635	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteocraniostenosis	Likely pathogenic; Pathogenic	rs587777011, rs1565206032, rs587777013, rs587777014, rs587777015, rs145826377	RCV000988563 RCV000050210 RCV000050212 RCV000050213 RCV000050214 RCV001261994 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAM111A-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	32996714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant Kenny-Caffey syndrome	Kenny-Caffey Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37400994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoparathyroidism	Congenital hypoparathyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23684011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37793778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gracile bone dysplasia	Gracile Bone Dysplasia	BEFREE	23684011, 30333173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gracile bone dysplasia	Gracile Bone Dysplasia	GENOMICS_ENGLAND_DG	23684011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gracile bone dysplasia	Gracile Bone Dysplasia	ORPHANET_DG	23684011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gracile bone dysplasia	Gracile Bone Dysplasia	CLINVAR_DG	23684011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gracile bone dysplasia	Gracile Bone Dysplasia	UNIPROT_DG	23684011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gracile bone dysplasia	Gracile Bone Dysplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocalcemic seizures	Hypocalcemic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocalcemic tetany	Hypocalcemic tetany	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	23684011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	23684011, 31433868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23996431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome	Kenny-Caffey Syndrome	ORPHANET_DG	23684011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome	Kenny-Caffey Syndrome	BEFREE	30333173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome	Kenny-Caffey Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
KENNY-CAFFEY SYNDROME, TYPE 1	Kenny-Caffey syndrome	BEFREE	23684011, 23996431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	GENOMICS_ENGLAND_DG	23684011		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	UNIPROT_DG	23684011, 23996431, 24635597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	ORPHANET_DG	23684011		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	BEFREE	23996431		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	23684011, 23996431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23996431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	32776417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36619896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteocraniostenosis	Osteocraniostenosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteosclerosis	Osteosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32800727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stenosis of the medullary cavity of the long bones	Stenosis of the medullary cavity of the long bones	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31856144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28639897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FAM111A (FAM111 trypsin like peptidase A)