FANCI (FA complementation group I)

Gene

• Entrez ID: 55215
• Gene name: FA complementation group I
• Gene symbol: FANCI
• Synonyms (NCBI Gene): KIAA1794
• Chromosome: 15
• Chromosome location: 15q26.1
• 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
rs121918163	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918164	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs140404896	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs144908351	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375656231	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs748000458	G>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs758597713	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs762128147	A>G	Likely-pathogenic	Splice acceptor variant
rs769248873	T>A	Pathogenic	Stop gained, coding sequence variant
rs770318990	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs864622739	G>A	Likely-pathogenic	Splice donor variant
rs878854181	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060501900	T>A	Pathogenic	Stop gained, coding sequence variant
rs1567142658	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567179036	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596318782	TCCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596324325	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596336945	->GAAC	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016311	hsa-miR-193b-3p	Microarray	20304954
MIRT023519	hsa-miR-1-3p	Proteomics	18668040
MIRT026117	hsa-miR-192-5p	Microarray	19074876
MIRT030685	hsa-miR-21-5p	Microarray	18591254
MIRT051849	hsa-let-7c-5p	CLASH	23622248
MIRT041018	hsa-miR-505-3p	CLASH	23622248
MIRT989188	hsa-miR-1237	CLIP-seq
MIRT989189	hsa-miR-1248	CLIP-seq
MIRT989190	hsa-miR-3138	CLIP-seq
MIRT989191	hsa-miR-3911	CLIP-seq
MIRT989192	hsa-miR-4325	CLIP-seq
MIRT989193	hsa-miR-4480	CLIP-seq
MIRT989194	hsa-miR-4699-5p	CLIP-seq
MIRT989195	hsa-miR-4722-3p	CLIP-seq
MIRT989196	hsa-miR-4800-5p	CLIP-seq
MIRT989197	hsa-miR-507	CLIP-seq
MIRT989198	hsa-miR-557	CLIP-seq
MIRT2227025	hsa-miR-1256	CLIP-seq
MIRT989192	hsa-miR-4325	CLIP-seq
MIRT2227026	hsa-miR-4436a	CLIP-seq
MIRT2227027	hsa-miR-4688	CLIP-seq
MIRT2227028	hsa-miR-4700-3p	CLIP-seq
MIRT989197	hsa-miR-507	CLIP-seq
MIRT989198	hsa-miR-557	CLIP-seq
MIRT2530834	hsa-miR-1178	CLIP-seq
MIRT2530835	hsa-miR-3121-5p	CLIP-seq
MIRT2530836	hsa-miR-3670	CLIP-seq
MIRT2530837	hsa-miR-4264	CLIP-seq
MIRT2530838	hsa-miR-4303	CLIP-seq
MIRT2530839	hsa-miR-4797-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	NAS	19965384
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17460694, 20603015, 31240132
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	18445686
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	18029348
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0070182	Function	DNA polymerase binding	IBA
GO:0070182	Function	DNA polymerase binding	IPI	19995904
GO:1990391	Component	DNA repair complex	IPI	32269332

Other IDs

• MIM: 611360
• HGNC: 25568
• e!Ensembl: ENSG00000140525

Protein

• UniProt ID: Q9NVI1
• Protein name: Fanconi anemia group I protein (Protein FACI)
• Protein function: Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair
• PDB: 6VAA, 6VAD, 6VAE, 6VAF, 7AY1, 7ZF1, 8A9J, 8A9K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14674	FANCI_S1-cap	1 → 53	FANCI solenoid 1 cap	Family
  PF14675	FANCI_S1	62 → 280	FANCI solenoid 1	Family
  PF14679	FANCI_HD1	284 → 370	FANCI helical domain 1	Family
  PF14676	FANCI_S2	378 → 541	FANCI solenoid 2	Family
  PF14680	FANCI_HD2	555 → 786	FANCI helical domain 2	Family
  PF14677	FANCI_S3	804 → 1032	FANCI solenoid 3	Family
  PF14678	FANCI_S4	1045 → 1296	FANCI solenoid 4	Family

• Sequence:

  MDQKILSLAAEKTADKLQEFLQTLREGDLTNLLQNQAVKGKVAGALLRAIFKGSPCSEEA
  GTLRRRKIYTCCIQLVESGDLQKEIASEIIGLLMLEAHHFPGPLLVELANEFISAVREGS
  LVNGKSLELLPIILTALATKKENLAYGKGVLSGEECKKQLINTLCSGRWDQQYVIQLTSM
  FKDVPLTAEEVEFVVEKALSMFSKMNLQEIPPLVYQLLVLSSKGSRKSVLEGIIAFFSAL
  DKQHNEEQSGDELLDVVTVPSGELRHVEGTIILHIVFAIKLDYELGRELVKHLKVGQQGD
  SNNNLSPFSIALLLSVTRIQRFQDQVLDLLKTSVVKSFKDLQLLQGSKFLQNLVPHRSYV
  STMILEVVKNSVHSWDHVTQGLVELGFILMDSYGPKKVLDGKTIETSPSLSRMPNQHACK
  LGANILLETFKIHEMIRQEILEQVLNRVVTRASSPISHFLDLLSNIVMYAPLVLQSCSSK
  VTEAFDYLSFLPLQTVQRLLKAVQPLLKVSMSMRDCLILVLRKAMFANQLDARKSAVAGF
  LLLLKNFKVLGSLSSSQCSQSLSVSQVHVDVHSHYNSVANETFCLEIMDSLRRCLSQQAD
  VRLMLYEGFYDVLRRNSQLANSVMQTLLSQLKQFYEPKPDLLPPLKLEACILTQGDKISL
  QEPLDYLLCCIQHCLAWYKNTVIPLQQGEEEEEEEEAFYEDLDDILESITNRMIKSELED
  FELDKSADFSQSTSIGIKNNICAFLVMGVCEVLIEYNFSISSFSKNRFEDILSLFMCYKK
  LSDILNEKAGKAKTKMANKTSDSLLSMKFVSSLLTALFRDSIQSHQESLSVLRSSNEFMR
  YAVNVALQKVQQLKETGHVSGPDGQNPEKIFQNLCDITRVLLWRYTSIPTSVEESGKKEK
  GKSISLLCLEGLQKIFSAVQQFYQPKIQQFLRALDVTDKEGEEREDADVSVTQRTAFQIR
  QFQRSLLNLLSSQEEDFNSKEALLLVTVLTSLSKLLEPSSPQFVQMLSWTSKICKENSRE
  DALFCKSLMNLLFSLHVSYKSPVILLRDLSQDIHGHLGDIDQDVEVEKTNHFAIVNLRTA
  APTVCLLVLSQAEKVLEEVDWLITKLKGQVSQETLSEEASSQATLPNQPVEKAIIMQLGT
  LLTFFHELVQTALPSGSCVDTLLKDLCKMYTTLTALVRYYLQVCQSSGGIPKNMEKLVKL
  SGSHLTPLCYSFISYVQNKSKSLNYTGEKKEKPAAVATAMARVLRETKPIPNLIFAIEQY
  EKFLIHLSKKSKVNLMQHMKLSTSRDFKIKGNILDMVLREDGEDENEEGTASEHGGQNKE
  PAKKKRKK

• Sequence length: 1328

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
Colorectal cancer	Likely pathogenic	rs760364969	RCV005936774	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCI-related disorder	Likely pathogenic; Pathogenic	rs771312042, rs1222323889, rs760364969	RCV003401850 RCV003403931 RCV003899683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs2053066295, rs745893292, rs2151924296, rs1567175626, rs759398314, rs544848412, rs773847168, rs776329920, rs768310043, rs771312042, rs2151724213, rs761982725, rs1400441798, rs748961800, rs2151549770, rs2054482551, rs756691827, rs2151580463, rs758062617, rs2054480330, rs2151551135, rs2151485792, rs1303324683, rs754986558, rs907106559, rs2151740576, rs2151304648, rs2152017390, rs2505970054, rs1173818227, rs2055026560, rs2507879973, rs1013628944, rs2508509632, rs2505951948, rs375656231, rs3743377, rs1222323889, rs138313760, rs2505951722, rs2507445293, rs548947826, rs2052801409, rs995746723, rs770318990, rs864622739, rs762128147, rs1472123387, rs878854181, rs117921863, rs2052723780, rs2508408921, rs2507355048, rs1479409508, rs1437269265, rs772959965, rs965134950, rs148415946, rs2506958652, rs762390984, rs1567158538, rs747291682, rs772733800, rs2506174334, rs2507402611, rs2507355285, rs2505911861, rs765463274, rs2505905536, rs2508510399, rs2506072003, rs2505910980, rs2505879863, rs1017506584, rs1195350202, rs748374119, rs2507390142, rs2055132665, rs748003452, rs2507934482, rs2505814781, rs2054158750, rs2053320150, rs1325973604, rs2506450135, rs746544641, rs2507438903, rs2506961955, rs2506448081, rs2506174736, rs2508506729, rs2507513309, rs2505911590, rs2508878334, rs2505969978, rs2507878942, rs2505984539, rs2507058720, rs2507440343, rs2506456334, rs2507937769, rs2507933264, rs2508428231, rs2506072089, rs2151689678, rs2505951838, rs149464307, rs2053602176, rs1286353775, rs1357692627, rs1235080486, rs2507357217, rs771293885, rs2508877889, rs2507505865, rs1417263841, rs2506599338, rs2505984516, rs2506593745, rs2491390525, rs2507357630, rs780439710, rs1037643863, rs1198815779, rs1368909419, rs760412752, rs758597713, rs769248873, rs1060501900, rs1567179036, rs1567165630, rs748000458, rs140404896, rs1596318782, rs1596336945, rs2053066105, rs2053682638, rs1407605188, rs1347292940, rs1432325198, rs551399966, rs1491132258, rs551305056, rs2054196709, rs1385885533	RCV001377100 RCV001385987 RCV001385762 RCV001383185 RCV001615388 RCV001615389 RCV003523109 RCV001885182 RCV001990629 RCV001912597 RCV001960585 RCV001979170 RCV001992032 RCV001901773 RCV001958852 RCV001891843 RCV001993199 RCV001877202 RCV001924375 RCV002035064 RCV002016812 RCV002029624 RCV001944243 RCV001914007 RCV001957738 RCV001916325 RCV002258577 RCV003523124 RCV003068254 RCV003082977 RCV003095721 RCV002606720 RCV002633065 RCV002666703 RCV002715758 RCV002790649 RCV000630839 RCV002846971 RCV002846205 RCV002889276 RCV002882066 RCV002927331 RCV002944151 RCV002942756 RCV002953467 RCV000203795 RCV000206316 RCV003522949 RCV003155617 RCV000230835 RCV003636030 RCV005100163 RCV003779030 RCV003636031 RCV003636032 RCV003636033 RCV003779031 RCV003779032 RCV005100164 RCV003636034 RCV005407161 RCV003523187 RCV003523188 RCV003523189 RCV005100165 RCV003523242 RCV003523353 RCV003524020 RCV003524085 RCV003524238 RCV003524351 RCV003522279 RCV003524162 RCV003524237 RCV003525079 RCV003522381 RCV003522504 RCV003522593 RCV003525027 RCV003525252 RCV003523729 RCV003523847 RCV003524638 RCV003524507 RCV003524512 RCV003524435 RCV003524444 RCV003524679 RCV003522708 RCV003522681 RCV003522813 RCV003524815 RCV003522667 RCV003522911 RCV003636345 RCV003636257 RCV003636358 RCV003636898 RCV003637056 RCV003637738 RCV003637634 RCV003637846 RCV003637877 RCV003637912 RCV003638071 RCV003635546 RCV003635583 RCV003635587 RCV003635644 RCV003635811 RCV003635858 RCV003635778 RCV003635819 RCV003636417 RCV003636518 RCV003636534 RCV003636767 RCV003636578 RCV003637427 RCV003637504 RCV003637615 RCV003828147 RCV003819002 RCV003818239 RCV003850830 RCV003842250 RCV003842974 RCV003847322 RCV003853996 RCV003851607 RCV003864651 RCV002509364 RCV000457201 RCV000460384 RCV000467025 RCV000705229 RCV003768170 RCV002536730 RCV001239482 RCV000807393 RCV000814808 RCV001035379 RCV001049832 RCV001053088 RCV003635946 RCV003523081 RCV002560182 RCV002560183 RCV002559234 RCV001382026 RCV003635947 RCV001205465	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group A	Likely pathogenic	rs1596324325	RCV000989376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group I	Likely pathogenic; Pathogenic	rs1359408831, rs745893292, rs1567175626, rs759398314, rs544848412, rs773847168, rs776329920, rs771312042, rs761982725, rs1400441798, rs748961800, rs2054482551, rs756691827, rs758062617, rs754986558, rs907106559, rs2152017390, rs1173818227, rs1013628944, rs375656231, rs548947826, rs995746723, rs770318990, rs762128147, rs2508460975, rs2505983529, rs2508599743, rs1567158538, rs2505910996, rs117921863, rs2052723780, rs2507839621, rs2507356114, rs2506800550, rs779146752, rs886376531, rs2053064127, rs1596343067, rs2508408921, rs2505880000, rs1465252834, rs2506220779, rs2506447938, rs2507355048, rs1479409508, rs745324944, rs1306035407, rs2506231338, rs1437269265, rs749802895, rs772959965, rs2507395267, rs1209869642, rs747291682, rs2507880932, rs767388018, rs2507936447, rs2509016110, rs965134950, rs148415946, rs1429870785, rs1198815779, rs2506958652, rs2507514974, rs2053427139, rs762390984, rs2507055972, rs2507391791, rs2054462667, rs2151913256, rs2506453150, rs2505907513, rs2505906188, rs2507392821, rs2507394599, rs772733800, rs764306023, rs2507512023, rs2507400397, rs768310043, rs2506174334, rs2506961673, rs748003452, rs2506961955, rs2506174736, rs1235080486, rs2054158750, rs2505984516, rs2506593745, rs1195350202, rs760364969, rs2508879017, rs2506226146, rs2151940628, rs1244949795, rs2505983816, rs769592464, rs758597713, rs2505401937, rs2509016412, rs2507933457, rs2509077600, rs2505904065, rs2505968895, rs769248873, rs1567179036, rs1567165630, rs748000458, rs140404896, rs1596324325, rs2053066105, rs2052048258, rs963339667, rs2053061271, rs146040966, rs1347292940, rs1432325198, rs551399966, rs2054124504, rs1361710673, rs1294973649, rs149464307, rs2054700381, rs2054707218, rs757106031, rs1491132258, rs551305056, rs2055186253, rs2055264556, rs1385885533	RCV001332840 RCV003463009 RCV004570949 RCV005635189 RCV005005266 RCV001781089 RCV003464140 RCV005006185 RCV002484717 RCV003464371 RCV003464219 RCV002490097 RCV003471117 RCV002479454 RCV003471060 RCV002503674 RCV003464429 RCV003459747 RCV003465984 RCV000190643 RCV003465879 RCV003465873 RCV002478726 RCV000490489 RCV003461506 RCV003468163 RCV003461507 RCV003461508 RCV003468164 RCV003461509 RCV003461510 RCV003461511 RCV003468165 RCV003461512 RCV003468166 RCV003468167 RCV003468168 RCV003461514 RCV003468170 RCV003461516 RCV003468171 RCV003461517 RCV003461518 RCV003461519 RCV003461520 RCV003461521 RCV003468172 RCV003461522 RCV003461523 RCV003461524 RCV003468173 RCV003461525 RCV003468174 RCV003461526 RCV003461527 RCV003461528 RCV003461529 RCV003468175 RCV003461530 RCV003468176 RCV003468177 RCV003461531 RCV003461532 RCV003461533 RCV003461534 RCV003461535 RCV003468178 RCV003461537 RCV003461538 RCV003461539 RCV003461540 RCV003461541 RCV003461542 RCV003461543 RCV003461544 RCV003461545 RCV003461546 RCV003468179 RCV003461547 RCV003468180 RCV003461549 RCV003468181 RCV003468182 RCV003468183 RCV003461550 RCV003468184 RCV005003674 RCV004574134 RCV005013060 RCV005013133 RCV004573262 RCV004573342 RCV005013202 RCV004573366 RCV004573418 RCV004576580 RCV004576581 RCV004576582 RCV004576583 RCV004576584 RCV004576585 RCV004576586 RCV004576587 RCV004576589 RCV004576590 RCV004576591 RCV004576592 RCV004576593 RCV001194983 RCV000502163 RCV003460983 RCV003461000 RCV000778449 RCV000778450 RCV002505500 RCV004570090 RCV001194980 RCV001194981 RCV001194990 RCV001194993 RCV003462669 RCV002484061 RCV001194997 RCV001194998 RCV001194999 RCV001195000 RCV001195001 RCV001195003 RCV001194982 RCV001194984 RCV001194986 RCV001194987 RCV001194988 RCV001194989 RCV002497697	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs1432325198	RCV001194996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs2507438903	RCV006274437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1195350202	RCV005935084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	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 I	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 62	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	26798408, 27405460, 32269332, 36385258	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19737859, 30303537		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19737859, 27277787		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30303537, 37290137	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 Hepatocellular	Hepatocellular carcinoma	Pubtator	37324186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33832503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34512202	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35392038	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37945594	Associate	★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	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	21478198		★☆☆☆☆ 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 hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	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
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	11239453, 17452773, 19686080, 28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	14630800, 18174376, 18448394, 20971953, 21355096, 21685936, 22987153, 23620800, 23993743, 25557546, 25659033, 25862789, 26119737, 26590883, 27277787, 27986371, 29030393, 29891926, 30692263, 30715513, 31085681, 32167469, 33795880, 33832503, 34096775, 34512202, 34549727, 35163588, 37974167	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	BEFREE	17412408, 17460694, 18448394, 18851838, 18931676, 19737859, 20921626, 20971953, 21605559, 22036606, 22855611, 22987153, 25486561, 25862789, 26430909, 26590883, 27405460, 27986371, 28315701, 28636932, 29059323, 29089570, 29376519, 29514982, 30022024, 30365131, 31167143, 31219578, 31477281		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	17412408, 17452773, 17460694, 18931676		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	26296701		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	29059323	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	17412408, 17460694, 18448394, 18851838, 18931676, 19737859, 20921626, 20971953, 21605559, 22036606, 22855611, 22987153, 25486561, 25862789, 26430909, 26590883, 27986371, 28315701, 28636932, 29059323, 29089570, 29514982, 30022024, 30365131, 31167143, 31219578, 31477281		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	29089570		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	17412408, 21775430, 27694619, 30650351		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP I	Fanconi Anemia	GENOMICS_ENGLAND_DG	11239453, 17452773, 19686080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP I	Fanconi Anemia	UNIPROT_DG	17412408, 17452773, 17460694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP I	Fanconi Anemia	CLINVAR_DG	17452773, 17460694, 17924555, 21324748, 22720145, 24989076, 26590883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP I	Fanconi Anemia	BEFREE	29452344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP I	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Syndrome	Fanconi Syndrome	BEFREE	27986371		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	35112146	Stimulate	★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ 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
Hepatitis B	Hepatitis b	Pubtator	37324186	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30306255	Associate	★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	27686023		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32868804	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ 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	19737859, 27277787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23555315		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24989076, 27986371, 30306255, 31783305		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	38077326	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	28297620		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32271791	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29452344, 34861889, 36833203	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29659569, 36095024	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
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32902196	Associate	★☆☆☆☆ 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
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26824983, 29452344		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26824983, 29452344	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36761744	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33436409	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	26590883		★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	26590883	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only