FANCC (FA complementation group C)

Gene

• Entrez ID: 2176
• Gene name: FA complementation group C
• Gene symbol: FANCC
• Synonyms (NCBI Gene): FA3, FAC, FACC
• Chromosome: 9
• Chromosome location: 9q22.32
• Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800365	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Missense variant, intron variant, coding sequence variant, genic upstream transcript variant
rs104886456	T>A	Pathogenic	Genic upstream transcript variant, intron variant
rs104886459	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs121917783	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs121917784	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs138629441	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs145394391	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs374176091	C>A,G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant, intron variant, genic upstream transcript variant
rs377294947	C>T	Pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs587779898	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs587779904	ATGAGA>T	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs730881708	CTCT>-,CT	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs730881731	G>A	Likely-pathogenic, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs755657969	CT>-	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs769039987	G>A,T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs774170058	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs777918411	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs781542763	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs794726668	C>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs876661231	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs878853671	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1014112491	C>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs1057516247	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516291	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516384	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516917	C>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, splice acceptor variant
rs1057517125	C>A,G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs1057517131	->GA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1057517147	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1057517203	->T	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1057517219	T>C,G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057519366	G>-,GG	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1060499606	GAGAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1064793405	C>G,T	Pathogenic, uncertain-significance	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs1228886763	C>T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs1268491295	->G	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant
rs1368374192	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, 5 prime UTR variant, initiator codon variant, genic upstream transcript variant
rs1484503633	C>A,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1554842611	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554842855	G>C	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1554857855	->T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554858249	C>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1564719070	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1564720605	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1564720637	CT>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1588218493	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588220728	AT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1588220764	GA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1588350264	C>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1588353886	GAA>TTGATCTT	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029075	hsa-miR-26b-5p	Microarray	19088304
MIRT046532	hsa-miR-15b-5p	CLASH	23622248
MIRT706970	hsa-miR-6733-3p	HITS-CLIP	21572407
MIRT706969	hsa-miR-6812-3p	HITS-CLIP	21572407
MIRT706968	hsa-miR-1267	HITS-CLIP	21572407
MIRT706967	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT706966	hsa-miR-1273f	HITS-CLIP	21572407
MIRT706965	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706964	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706963	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706962	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706961	hsa-miR-3652	HITS-CLIP	21572407
MIRT706960	hsa-miR-4430	HITS-CLIP	21572407
MIRT706959	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706958	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706957	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706956	hsa-miR-6843-3p	HITS-CLIP	21572407
MIRT706955	hsa-miR-6848-3p	HITS-CLIP	21572407
MIRT706954	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706953	hsa-miR-5698	HITS-CLIP	21572407
MIRT648757	hsa-miR-873-5p	HITS-CLIP	23824327
MIRT648756	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648755	hsa-miR-587	HITS-CLIP	23824327
MIRT531247	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT531246	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT531245	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT531244	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT531243	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT531242	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT531241	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT531239	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT531240	hsa-miR-5007-5p	PAR-CLIP	22012620
MIRT531238	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT531237	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT531236	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT531235	hsa-miR-4270	PAR-CLIP	22012620
MIRT531234	hsa-miR-4441	PAR-CLIP	22012620
MIRT531233	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT531232	hsa-miR-5192	PAR-CLIP	22012620
MIRT531231	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT531230	hsa-miR-8085	PAR-CLIP	22012620
MIRT706970	hsa-miR-6733-3p	HITS-CLIP	21572407
MIRT706969	hsa-miR-6812-3p	HITS-CLIP	21572407
MIRT706968	hsa-miR-1267	HITS-CLIP	21572407
MIRT706967	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT706966	hsa-miR-1273f	HITS-CLIP	21572407
MIRT706965	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706964	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706963	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706962	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706961	hsa-miR-3652	HITS-CLIP	21572407
MIRT706960	hsa-miR-4430	HITS-CLIP	21572407
MIRT706959	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706958	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706957	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706956	hsa-miR-6843-3p	HITS-CLIP	21572407
MIRT706955	hsa-miR-6848-3p	HITS-CLIP	21572407
MIRT706954	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706953	hsa-miR-5698	HITS-CLIP	21572407
MIRT648757	hsa-miR-873-5p	HITS-CLIP	23824327
MIRT648756	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648755	hsa-miR-587	HITS-CLIP	23824327
MIRT531247	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT531246	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT531245	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT531244	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT531243	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT531242	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT531241	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT531239	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT531240	hsa-miR-5007-5p	PAR-CLIP	22012620
MIRT531238	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT531237	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT531236	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT531235	hsa-miR-4270	PAR-CLIP	22012620
MIRT531234	hsa-miR-4441	PAR-CLIP	22012620
MIRT531233	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT531232	hsa-miR-5192	PAR-CLIP	22012620
MIRT531231	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT531230	hsa-miR-8085	PAR-CLIP	22012620
MIRT988966	hsa-miR-1178	CLIP-seq
MIRT988967	hsa-miR-122	CLIP-seq
MIRT988968	hsa-miR-1285	CLIP-seq
MIRT988969	hsa-miR-1323	CLIP-seq
MIRT988970	hsa-miR-149	CLIP-seq
MIRT988971	hsa-miR-1587	CLIP-seq
MIRT988972	hsa-miR-2964a-5p	CLIP-seq
MIRT988973	hsa-miR-3121-3p	CLIP-seq
MIRT988974	hsa-miR-3126-5p	CLIP-seq
MIRT988975	hsa-miR-3136-5p	CLIP-seq
MIRT988976	hsa-miR-3182	CLIP-seq
MIRT988977	hsa-miR-3187-5p	CLIP-seq
MIRT988978	hsa-miR-3194-3p	CLIP-seq
MIRT988979	hsa-miR-3614-5p	CLIP-seq
MIRT988980	hsa-miR-3649	CLIP-seq
MIRT988981	hsa-miR-3661	CLIP-seq
MIRT988982	hsa-miR-3686	CLIP-seq
MIRT988983	hsa-miR-371b-5p	CLIP-seq
MIRT988984	hsa-miR-378g	CLIP-seq
MIRT988985	hsa-miR-4274	CLIP-seq
MIRT988986	hsa-miR-433	CLIP-seq
MIRT988987	hsa-miR-4419a	CLIP-seq
MIRT988988	hsa-miR-4439	CLIP-seq
MIRT988989	hsa-miR-4446-5p	CLIP-seq
MIRT988990	hsa-miR-4486	CLIP-seq
MIRT988991	hsa-miR-4492	CLIP-seq
MIRT988992	hsa-miR-4498	CLIP-seq
MIRT988993	hsa-miR-4502	CLIP-seq
MIRT988994	hsa-miR-4510	CLIP-seq
MIRT988995	hsa-miR-4512	CLIP-seq
MIRT988996	hsa-miR-4513	CLIP-seq
MIRT988997	hsa-miR-4519	CLIP-seq
MIRT988998	hsa-miR-4635	CLIP-seq
MIRT988999	hsa-miR-4656	CLIP-seq
MIRT989000	hsa-miR-4675	CLIP-seq
MIRT989001	hsa-miR-4695-3p	CLIP-seq
MIRT989002	hsa-miR-4704-5p	CLIP-seq
MIRT989003	hsa-miR-4729	CLIP-seq
MIRT989004	hsa-miR-4741	CLIP-seq
MIRT989005	hsa-miR-4742-3p	CLIP-seq
MIRT989006	hsa-miR-4755-5p	CLIP-seq
MIRT989007	hsa-miR-4766-3p	CLIP-seq
MIRT989008	hsa-miR-4777-3p	CLIP-seq
MIRT989009	hsa-miR-4797-5p	CLIP-seq
MIRT989010	hsa-miR-492	CLIP-seq
MIRT989011	hsa-miR-548o	CLIP-seq
MIRT989012	hsa-miR-548p	CLIP-seq
MIRT989013	hsa-miR-612	CLIP-seq
MIRT989014	hsa-miR-627	CLIP-seq
MIRT989015	hsa-miR-631	CLIP-seq
MIRT989016	hsa-miR-759	CLIP-seq
MIRT989017	hsa-miR-760	CLIP-seq
MIRT989018	hsa-miR-762	CLIP-seq
MIRT989019	hsa-miR-875-5p	CLIP-seq
MIRT989020	hsa-miR-924	CLIP-seq
MIRT1993043	hsa-miR-1264	CLIP-seq
MIRT1993044	hsa-miR-1307	CLIP-seq
MIRT1993045	hsa-miR-3127-5p	CLIP-seq
MIRT1993046	hsa-miR-3180-5p	CLIP-seq
MIRT1993047	hsa-miR-3918	CLIP-seq
MIRT1993048	hsa-miR-409-3p	CLIP-seq
MIRT1993049	hsa-miR-4268	CLIP-seq
MIRT1993050	hsa-miR-4284	CLIP-seq
MIRT1993051	hsa-miR-4297	CLIP-seq
MIRT988986	hsa-miR-433	CLIP-seq
MIRT988993	hsa-miR-4502	CLIP-seq
MIRT1993052	hsa-miR-4638-5p	CLIP-seq
MIRT989001	hsa-miR-4695-3p	CLIP-seq
MIRT1993053	hsa-miR-4724-3p	CLIP-seq
MIRT1993054	hsa-miR-4733-3p	CLIP-seq
MIRT1993055	hsa-miR-4763-5p	CLIP-seq
MIRT1993056	hsa-miR-532-3p	CLIP-seq
MIRT1993057	hsa-miR-564	CLIP-seq
MIRT1993058	hsa-miR-576-5p	CLIP-seq
MIRT2226974	hsa-miR-103a	CLIP-seq
MIRT2226975	hsa-miR-107	CLIP-seq
MIRT988967	hsa-miR-122	CLIP-seq
MIRT2226976	hsa-miR-1224-3p	CLIP-seq
MIRT2226977	hsa-miR-1260	CLIP-seq
MIRT2226978	hsa-miR-1260b	CLIP-seq
MIRT2226979	hsa-miR-1280	CLIP-seq
MIRT1993044	hsa-miR-1307	CLIP-seq
MIRT2226980	hsa-miR-3065-5p	CLIP-seq
MIRT2226981	hsa-miR-335	CLIP-seq
MIRT2226982	hsa-miR-3934	CLIP-seq
MIRT2226983	hsa-miR-4252	CLIP-seq
MIRT2226984	hsa-miR-4310	CLIP-seq
MIRT988986	hsa-miR-433	CLIP-seq
MIRT2226985	hsa-miR-4330	CLIP-seq
MIRT2226986	hsa-miR-4432	CLIP-seq
MIRT2226987	hsa-miR-4494	CLIP-seq
MIRT2226988	hsa-miR-450b-3p	CLIP-seq
MIRT2226989	hsa-miR-4532	CLIP-seq
MIRT1993052	hsa-miR-4638-5p	CLIP-seq
MIRT989001	hsa-miR-4695-3p	CLIP-seq
MIRT2226990	hsa-miR-4713-3p	CLIP-seq
MIRT2226991	hsa-miR-499a-5p	CLIP-seq
MIRT2226992	hsa-miR-513a-5p	CLIP-seq
MIRT1993056	hsa-miR-532-3p	CLIP-seq
MIRT2226993	hsa-miR-552	CLIP-seq
MIRT2226994	hsa-miR-638	CLIP-seq
MIRT2226995	hsa-miR-769-3p	CLIP-seq
MIRT2226976	hsa-miR-1224-3p	CLIP-seq
MIRT2449462	hsa-miR-4267	CLIP-seq
MIRT2449463	hsa-miR-4286	CLIP-seq
MIRT2449464	hsa-miR-720	CLIP-seq
MIRT988967	hsa-miR-122	CLIP-seq
MIRT2530800	hsa-miR-186	CLIP-seq
MIRT2449464	hsa-miR-720	CLIP-seq
MIRT2226976	hsa-miR-1224-3p	CLIP-seq
MIRT2226977	hsa-miR-1260	CLIP-seq
MIRT2226978	hsa-miR-1260b	CLIP-seq
MIRT2226979	hsa-miR-1280	CLIP-seq
MIRT2530800	hsa-miR-186	CLIP-seq
MIRT2226981	hsa-miR-335	CLIP-seq
MIRT2226989	hsa-miR-4532	CLIP-seq
MIRT1993056	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0005515	Function	Protein binding	IPI	9596688, 12649160, 24412244, 26871637, 33961781, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9398857
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9398857
GO:0005829	Component	Cytosol	IDA	9596688
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	1574115
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0034599	Process	Cellular response to oxidative stress	IBA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0065003	Process	Protein-containing complex assembly	TAS	9398857

Other IDs

• MIM: 613899
• HGNC: 3584
• e!Ensembl: ENSG00000158169

Protein

• UniProt ID: Q00597
• Protein name: Fanconi anemia group C protein (Protein FACC)
• Protein function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitat
• PDB: 7KZP, 7KZQ, 7KZR, 7KZS, 7KZT, 7KZV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02106	Fanconi_C	1 → 555	Fanconi anaemia group C protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTV
  IERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSH
  ILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERV
  ASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
  CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRC
  ALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIP
  RGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPT
  ALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
  APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIES
  PRSEKLARELLKELRTQV

• Sequence length: 558

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Fanconi Anemia Pathway
TP53 Regulates Transcription of DNA Repair Genes

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
Carcinoma of colon	Likely pathogenic; Pathogenic	rs1057519366	RCV000416810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCC-related disorder	Pathogenic; Likely pathogenic	rs587779904, rs587777945, rs730881710, rs730881709, rs774209201, rs377294947, rs371897078, rs145394391, rs104886458, rs121917783, rs104886456, rs121917784, rs104886459, rs1554829575, rs867319477, rs1484503633, rs765551897	RCV003925114 RCV003407527 RCV004724948 RCV004748608 RCV003398868 RCV003407628 RCV003955217 RCV003897513 RCV003421917 RCV004748517 RCV004748518 RCV004748519 RCV004748520 RCV003400025 RCV003897826 RCV003411478 RCV003403514	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Pathogenic; Likely pathogenic	rs2134548133, rs370510954, rs587779909, rs2134382573, rs2134456127, rs2134546063, rs2134550787, rs2134551203, rs1825653076, rs750003253, rs2136048818, rs2136090829, rs2136090871, rs2136091157, rs749230615, rs2136101386, rs587779904, rs2135427018, rs2136049324, rs2134456820, rs762501862, rs2135168243, rs2135588524, rs2135587402, rs587777945, rs1343170313, rs1831179586, rs754779102, rs2134922671, rs1189888124, rs774209201, rs779806106, rs863224441, rs2135428096, rs2135167716, rs2134968283, rs2136090597, rs730881710, rs730881709, rs730881708, rs730881731, rs2135426817, rs751757203, rs781542763, rs377294947, rs2542756480, rs2541138686, rs2542755543, rs2540887710, rs1254639941, rs2540749216, rs2540991022, rs2542862627, rs554302947, rs371897078, rs2540948320, rs2540810434, rs766105286, rs769039987, rs145394391, rs878853671, rs758116389, rs104886458, rs121917783, rs104886456, rs121917784, rs104886457, rs794726667, rs104886459, rs794726668, rs2540808944, rs2540750383, rs2542859946, rs1425473449, rs2542863696, rs2541136426, rs2540883406, rs2134550524, rs1057517219, rs2540750688, rs2540750877, rs2542861944, rs1380999715, rs2542756107, rs2541698973, rs748118992, rs1195346607, rs2134921669, rs753885687, rs2134549944, rs2542863248, rs867319477, rs1057516488, rs1057516298, rs944083227, rs1057516919, rs1057517125, rs1057517203, rs1057516917, rs1057516291, rs1057517131, rs774170058, rs1554842611, rs759900071, rs1064795597, rs776054094, rs1057519366, rs1554829415, rs1554829441, rs1554833186, rs776529713, rs1484503633, rs765551897, rs1410356625, rs1554830249, rs1268491295, rs1554829561, rs1554830789, rs777918411, rs1554827159, rs1554858249, rs1564641485, rs1564720605, rs1035139114, rs1564678441, rs1564720637, rs1588029220, rs1588218493, rs1588134748, rs374176091, rs1588220728, rs1588350264, rs1064793405, rs1014112491, rs1825775052, rs1564667865, rs1825714345, rs1825725461, rs1831171802, rs1831172189, rs1175257797, rs1554829575, rs2071928804, rs1826007748, rs1830581816, rs1825770738, rs2071512726	RCV003635959 RCV001378545 RCV001378493 RCV001389469 RCV001385163 RCV001384637 RCV001381279 RCV001389515 RCV001386565 RCV001382846 RCV001388886 RCV001385194 RCV001387251 RCV001386396 RCV002032598 RCV001615391 RCV000229758 RCV000204814 RCV001923840 RCV001875359 RCV002050320 RCV001941835 RCV001872257 RCV001921014 RCV002019542 RCV003522928 RCV001977768 RCV001993301 RCV001957391 RCV002007503 RCV002035479 RCV002040417 RCV001941540 RCV002036364 RCV001969831 RCV001947035 RCV001937644 RCV001975645 RCV000798003 RCV000203768 RCV000528984 RCV000472455 RCV003098258 RCV003523136 RCV000462508 RCV001213440 RCV001390247 RCV003037328 RCV002595730 RCV002594170 RCV002608981 RCV002636417 RCV002658946 RCV002857090 RCV002867046 RCV002847200 RCV002982364 RCV000196695 RCV000198724 RCV000526773 RCV003014288 RCV003023315 RCV000205214 RCV000704130 RCV000230742 RCV000226528 RCV003635999 RCV000458747 RCV001221431 RCV000471314 RCV000197192 RCV000476519 RCV000205197 RCV001851810 RCV000460906 RCV001221363 RCV005100160 RCV003523908 RCV003523646 RCV003523540 RCV003524640 RCV003524439 RCV003524831 RCV003522888 RCV003636250 RCV003636922 RCV003637030 RCV003637840 RCV003637819 RCV003637936 RCV003637974 RCV003635517 RCV003635726 RCV003636590 RCV003636614 RCV003636831 RCV003864208 RCV003879434 RCV004018217 RCV001059596 RCV001850946 RCV001388954 RCV003635911 RCV002523864 RCV002523870 RCV003635912 RCV001377492 RCV000462409 RCV003522962 RCV001850957 RCV000465895 RCV000463391 RCV001035863 RCV003635918 RCV001835813 RCV002525919 RCV000556224 RCV000529278 RCV000558309 RCV000530897 RCV000818488 RCV001042914 RCV000824456 RCV001381636 RCV001868245 RCV001384636 RCV001868271 RCV002531358 RCV002532107 RCV001861820 RCV003635928 RCV001225609 RCV002531291 RCV000700929 RCV000699203 RCV001390077 RCV005056479 RCV002535694 RCV000822761 RCV000804708 RCV000804363 RCV000809608 RCV000820250 RCV001216645 RCV003769405 RCV003523055 RCV001210421 RCV003769612 RCV001068005 RCV001045963 RCV001037048 RCV001035894 RCV001054113 RCV001054325 RCV001063564 RCV001066919 RCV001859174 RCV001201710 RCV001208956 RCV001206519 RCV001221372 RCV001230669	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group A	Likely pathogenic; Pathogenic	rs1564719070, rs765551897	RCV000988217 RCV000988203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group C	Likely pathogenic; Pathogenic	rs2134456127, rs1825653076, rs2136101386, rs2134694075, rs587779904, rs587779909, rs2136049324, rs762501862, rs2135168243, rs2135588524, rs587777945, rs1831179586, rs1189888124, rs863224441, rs2134382250, rs2136049646, rs769998628, rs2541398976, rs2072504418, rs2542842484, rs2542755054, rs2541695491, rs2542756207, rs2542842989, rs2541701286, rs730881710, rs730881709, rs730881708, rs730881731, rs751757203, rs774209201, rs781542763, rs377294947, rs2542756480, rs2541138686, rs2542755543, rs2540887710, rs1254639941, rs371897078, rs766105286, rs769039987, rs145394391, rs878853671, rs758116389, rs370510954, rs104886458, rs121917783, rs104886456, rs121917784, rs104886457, rs794726667, rs104886459, rs121917785, rs794726668, rs1407999116, rs2542859477, rs2542844483, rs2540808944, rs1248886497, rs2072240134, rs2541950774, rs1825653450, rs2541701808, rs2540882734, rs2540884610, rs1484503633, rs2540948713, rs2541401806, rs2541139869, rs2540881892, rs1588134180, rs2134921669, rs2540886717, rs2540949591, rs2540883356, rs2542844105, rs867319477, rs1057516455, rs1057517170, rs1057516488, rs1057516963, rs1057516298, rs944083227, rs1057516313, rs1057516919, rs1057516248, rs1057516792, rs1057517125, rs1057517203, rs1057516917, rs1057516247, rs1057516291, rs1057516384, rs1057517219, rs1057517147, rs1057517131, rs774170058, rs1554842611, rs1060499606, rs759900071, rs1064795597, rs776054094, rs1554829441, rs1554833186, rs776529713, rs765551897, rs1410356625, rs1554830249, rs1268491295, rs1368374192, rs1364238660, rs1554827166, rs1554829561, rs1554830220, rs1554830789, rs1554827136, rs200719554, rs1554829555, rs1554829575, rs777918411, rs1554827159, rs1554858249, rs1564641485, rs1035139114, rs1564719151, rs1564678441, rs1564720637, rs1588029220, rs1588218493, rs1588101086, rs374176091, rs1588220728, rs1588220764, rs1588350264, rs1588134571, rs1064793405, rs1588353886, rs1014112491, rs1825775052, rs2071089000, rs76895298, rs2071939263, rs1825770865, rs1830058898, rs1825652623, rs1831183107, rs2071086256, rs1826007748, rs1825770738, rs2072245226, rs1827526425, rs1830059125, rs1825652774, rs1825725461, rs1830581816, rs1830584796	RCV003463004 RCV002476730 RCV003339687 RCV001783249 RCV000590237 RCV000410480 RCV002503489 RCV005042593 RCV003464174 RCV005042515 RCV001729399 RCV004571701 RCV004571704 RCV005042703 RCV002249975 RCV002249976 RCV002281839 RCV002306615 RCV002309751 RCV002309778 RCV002309986 RCV002308026 RCV002308334 RCV002306898 RCV002307172 RCV000672163 RCV000984265 RCV000410607 RCV000781350 RCV004571154 RCV000169449 RCV000169411 RCV000169293 RCV003465918 RCV005045324 RCV005050605 RCV003465797 RCV004571198 RCV000984173 RCV000409441 RCV000409033 RCV000984264 RCV000780230 RCV003463635 RCV003145116 RCV000412116 RCV000012823 RCV000012824 RCV000012825 RCV000012826 RCV000012827 RCV000012828 RCV000012829 RCV000012830 RCV000012831 RCV003330195 RCV003468117 RCV003468118 RCV003460179 RCV003460180 RCV003460181 RCV003460182 RCV003460183 RCV003468119 RCV003468120 RCV003468121 RCV003468122 RCV003460184 RCV003460185 RCV003460186 RCV003460187 RCV003460188 RCV005063141 RCV004573277 RCV004576537 RCV004576538 RCV004576539 RCV004576540 RCV000409524 RCV000411700 RCV000410650 RCV000409398 RCV000409084 RCV000409733 RCV000411906 RCV000412286 RCV000410408 RCV000409572 RCV000410893 RCV000409465 RCV000409673 RCV000410360 RCV000412431 RCV000412313 RCV000412276 RCV000410988 RCV000408990 RCV000409107 RCV000590358 RCV004568043 RCV000477851 RCV000984263 RCV004568195 RCV000984174 RCV001004548 RCV005044797 RCV004569262 RCV000625771 RCV002248850 RCV000666989 RCV000670553 RCV000674999 RCV000673122 RCV000672742 RCV000668308 RCV000673448 RCV000671011 RCV000674613 RCV000671064 RCV000673380 RCV000667900 RCV000672089 RCV000670114 RCV000666931 RCV000666180 RCV000668283 RCV000671594 RCV003465615 RCV000709079 RCV003485634 RCV005046983 RCV000781351 RCV004569776 RCV003467405 RCV003467402 RCV001004549 RCV001004550 RCV001004551 RCV001004336 RCV001004337 RCV003461417 RCV001195043 RCV002479204 RCV003461410 RCV002479219 RCV003462534 RCV001195059 RCV001195058 RCV001195057 RCV001195056 RCV001195052 RCV001195047 RCV001195035 RCV001195039 RCV001195060 RCV003462699 RCV003469381 RCV001264297 RCV001264298 RCV001264299 RCV001264300 RCV001264301 RCV001263719 RCV001263720 RCV001263721	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2134548133, rs587779909, rs2134456127, rs2136101386, rs587779904, rs2136049324, rs2135588524, rs587777945, rs1831179586, rs1189888124, rs2134968283, rs2540888580, rs2542753846, rs2541927522, rs145394391, rs730881710, rs730881709, rs730881708, rs730881731, rs2135426817, rs2541137972, rs751757203, rs774209201, rs781542763, rs377294947, rs2540887710, rs2540991022, rs371897078, rs1057519366, rs769039987, rs878853671, rs370510954, rs104886458, rs121917783, rs104886456, rs121917784, rs104886457, rs794726667, rs104886459, rs2540886440, rs2542843255, rs2541401443, rs2542844483, rs1825653450, rs2540750383, rs2542859946, rs2134550524, rs2541400979, rs1831176210, rs1057516298, rs944083227, rs1057516291, rs1057517219, rs774170058, rs759900071, rs1064795597, rs776529713, rs1484503633, rs765551897, rs1410356625, rs1554830249, rs1268491295, rs1368374192, rs1364238660, rs1554829575, rs1554858249, rs1564641485, rs1588218493, rs1588134748, rs374176091, rs1588220728, rs1588134180, rs1588134571, rs1064793405, rs1588353886, rs1588070986, rs1057517125, rs1014112491, rs1825775052, rs1175257797, rs1825770738	RCV002377504 RCV002447502 RCV004037669 RCV002368623 RCV001020583 RCV002444565 RCV002440973 RCV002359417 RCV002399490 RCV004043989 RCV002442941 RCV002370502 RCV002333607 RCV002332991 RCV002338438 RCV002340782 RCV001011210 RCV002381527 RCV001023180 RCV004019942 RCV002361942 RCV002385173 RCV002453122 RCV001017779 RCV002345568 RCV002362865 RCV004065763 RCV003308311 RCV002336539 RCV001010060 RCV003165503 RCV001023972 RCV001023734 RCV002433945 RCV000574838 RCV002399319 RCV000568180 RCV000562912 RCV001021181 RCV000572840 RCV004619189 RCV001025667 RCV003296417 RCV003301938 RCV003368117 RCV004364767 RCV004949091 RCV004950380 RCV004369344 RCV004621838 RCV004520546 RCV004520553 RCV002379264 RCV002379265 RCV000574200 RCV002436231 RCV001022696 RCV002413322 RCV004023167 RCV002356785 RCV000569363 RCV002334038 RCV004948552 RCV002388175 RCV004619375 RCV004026139 RCV001021633 RCV002388182 RCV003303098 RCV004026095 RCV004948560 RCV004026534 RCV002336630 RCV002363153 RCV002372728 RCV002454254 RCV001017637 RCV001026242 RCV001020169 RCV001010278 RCV001019952 RCV001025741 RCV001023758 RCV002379526 RCV004950239 RCV004619545 RCV002379836	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs2136090574, rs587779909, rs121917783, rs104886456	RCV001355878 RCV001356332 RCV001356657 RCV001358012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs1484503633	RCV005902027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs2134456773, rs1564678996	RCV003154729 RCV003154801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARDIOVASCULAR SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PANCREATIC NEOPLASM	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked central congenital hypothyroidism with late-onset testicular enlargement	Benign; 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
Acute leukemia	Leukemia	BEFREE	18607065		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12670332, 18607065		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	27881370		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16762635		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26842001		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28539126		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	11167740, 7853372	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21670957		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	21670957		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26073630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	29700125		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	11876000, 18210922, 23028338		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	18210922, 23028338	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	11986317	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15136595, 17909071, 18990233, 23028338, 27646721, 29507678, 29678165, 31467304		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17909071, 18990233, 23028338, 28891274, 31467304, 32427313	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18000367		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20509860, 37928536	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27616351, 32113160	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11310831		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28341544		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28893516		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21543111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	21543111		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12035045		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG	27165003		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18210922, 27165003	Associate	★☆☆☆☆ Found in Text Mining only
Compensatory Hyperinsulinemia	Compensatory Hyperinsulinemia	CTD_human_DG	22482891		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	8978774		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	39924156	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	30040752		★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endogenous Hyperinsulinism	Endogenous Hyperinsulinism	CTD_human_DG	22482891		★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Exogenous Hyperinsulinism	Exogenous Hyperinsulinism	CTD_human_DG	22482891		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10232749, 10567393, 10572087, 10627482, 10635999, 10652215, 10666230, 10848598, 11335753, 11427142, 12001267, 12093742, 12239156, 12423678, 12483114, 12670332, 12692539, 12749865, 14726700, 15077170, 15345282, 16127171, 17909071, 18684868, 19850743, 20034732, 20509860, 20869034, 21115814, 23613520, 23779253, 26466335, 26842001, 29089570, 29901137, 31044565, 31467304, 7489413, 7517562, 7517716, 7581369, 7690622, 7835901, 7853372, 7929819, 8348157, 8520833, 8613549, 8621788, 8639804, 8673470, 8703809, 8704210, 8789444, 8822951, 8844212, 8986283, 9207444, 9242526, 9322874, 9345011, 9382107, 9389754, 9454773, 9642044, 9650445, 9713825, 9789045, 9864182		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	10572087, 10666230, 11001585, 11750104, 12239156, 15082718, 15256425, 15299030, 16127171, 19405097, 20509860, 23028338, 23613520, 25168418, 27165003, 28425259, 29400309, 29891926, 30031030, 31044565, 35216452, 36135330, 7492758, 7517562, 8128956, 8613549, 8621788, 8639804, 8822951, 9207444, 9242535, 9345010, 9382107, 9713825, 9789045	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	10666230, 16429406, 17924555, 22778927, 23028338, 24584348, 26681312, 26740942, 26990548, 27133164, 28425259, 7689011, 8081385, 8103176, 8128956, 8348157, 8639804, 8844212, 8882868, 9207444		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	12239156, 12397061, 15077170, 15327776, 15616572, 16127171		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	1574115, 16493006, 19686080, 27881370		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	22482891		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10232749, 10567393, 10572087, 10627482, 10635999, 10652215, 10666230, 10848598, 11335753, 11427142, 12239156, 12423678, 12483114, 12692539, 12749865, 14726700, 15077170, 15345282, 16127171, 17909071, 18684868, 19850743, 20034732, 20509860, 20869034, 21115814, 22482891, 23613520, 23779253, 26466335, 26842001, 29089570, 29901137, 31044565, 31467304, 7489413, 7517562, 7517716, 7690622, 7835901, 7929819, 8520833, 8613549, 8621788, 8639804, 8673470, 8704210, 8789444, 8822951, 8844212, 8986283, 9207444, 9242526, 9322874, 9345011, 9382107, 9389754, 9454773, 9642044, 9650445, 9713825, 9789045, 9864182		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	GENOMICS_ENGLAND_DG	10431244, 1574115, 16493006, 19686080, 8348157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	CLINVAR_DG	10666230, 10994546, 11110674, 11427142, 11520787, 12093742, 12670332, 15364573, 16015582, 1641028, 16429406, 17924555, 19622403, 20507306, 20509860, 20869034, 22701786, 22720145, 23028338, 23634996, 23934222, 24469828, 24584348, 25801821, 26466335, 26681312, 26689913, 29439820, 29922827, 7492758, 8081385, 8103176, 8128956, 8348157, 8499901, 8639804, 8703809, 8844212, 8882868, 9207444, 9242535, 9452030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	UNIPROT_DG	11520787, 15299030, 1574115, 8128956, 8499901, 8844212, 9242535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	18684868, 22234699, 28539126, 29901137, 7730370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	CLINGEN_DG	20606166, 20869034, 29376519, 8103176, 8630504, 8639804, 8704201, 8829660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	15077170, 20869034, 7489413		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15662710		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18210922, 27165003	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	23779253		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	8986283		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	22482891		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	22482891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	CTD_human_DG	22482891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31171361		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18607065		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20864535	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	GENOMICS_ENGLAND_DG	27881370		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12670332, 18607065		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	27881370		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20509860, 29166623		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15136595, 17909071, 18990233, 23028338, 29507678, 31467304		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12750283, 14726700, 15107617, 15277238, 15695377		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15277238, 16762635, 17909071, 23779253, 26778106, 28139070, 8621788		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21543111		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18210922		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	28687356	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29930218		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	27881370		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31653711		★☆☆☆☆ Found in Text Mining only
Multiple self-healing squamous epithelioma	Multiple Self-Healing Epithelioma	BEFREE	16170343		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	27881370		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	21670957		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14726700, 23053273, 25101980		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10666230, 15516848, 17924555, 20509860, 21659346, 22701786, 22778927, 23028338, 23613520, 25525159, 26681312, 26778106, 27577878, 28125078, 28259476, 28425259, 7689011, 8103176, 8128956, 8348157, 8639804, 8844212, 8882868		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29305866		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34740923	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12750283, 14726700, 15107617, 15277238, 15695377		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	14726700		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	17431503		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	14726700, 15277238, 32113160	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	12423678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	1574115, 16493006, 27881370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma	Papilloma	BEFREE	28139070		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	11310831		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	26819647	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28878254	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	35512711	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	10232749		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	26968956		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30040752		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21861228		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	9207444		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	30957982		★☆☆☆☆ Found in Text Mining only