ASPM (assembly factor for spindle microtubules)

Gene

• Entrez ID: 259266
• Gene name: Assembly factor for spindle microtubules
• Gene symbol: ASPM
• Synonyms (NCBI Gene): ASP, Calmbp1, MCPH5
• Chromosome: 1
• Chromosome location: 1q31.3
• Summary: This gene is the human ortholog of the Drosophila melanogaster `abnormal spindle` gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115594989	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs118010078	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, intron variant, coding sequence variant
rs137852994	G>A	Pathogenic	Stop gained, coding sequence variant
rs137852995	C>T	Pathogenic	Stop gained, coding sequence variant
rs137852996	G>A	Pathogenic	Stop gained, coding sequence variant
rs137852997	A>C,G	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs139317695	T>A,G	Pathogenic, likely-benign, benign	Stop gained, missense variant, coding sequence variant
rs139367209	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, intron variant, coding sequence variant
rs140602858	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs141715950	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs142587742	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs142901223	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs143822761	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs143931757	A>C,G	Pathogenic, benign	Coding sequence variant, synonymous variant, stop gained
rs145489194	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs147160053	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs147622433	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs148294838	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs148328539	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, missense variant, coding sequence variant
rs149228705	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, stop gained, coding sequence variant
rs149303254	T>C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149690383	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150642468	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs151142538	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs183395856	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs188955444	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs189678019	A>C,G	Pathogenic, likely-benign	Stop gained, intron variant, coding sequence variant, synonymous variant
rs190693455	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs199422131	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422133	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422134	G>A,C,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs199422135	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422136	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422137	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422138	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422139	CTTGAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422141	C>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs199422142	TTAGGATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422143	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422144	TAAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422146	CT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs199422147	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422148	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422149	T>C	Pathogenic	Intron variant
rs199422150	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs199422151	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199422152	C>T	Pathogenic	Stop gained, coding sequence variant
rs199422153	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422154	C>T	Pathogenic	Missense variant, coding sequence variant
rs199422155	A>C	Pathogenic	Stop gained, coding sequence variant
rs199422156	AGCGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422157	G>C	Pathogenic	Stop gained, coding sequence variant
rs199422158	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422159	G>C	Pathogenic	Stop gained, coding sequence variant
rs199422160	C>T	Pathogenic	Splice donor variant
rs199422161	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs199422162	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422163	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422164	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422165	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422166	TA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422167	T>-,TT	Pathogenic	Stop gained, intron variant, frameshift variant, coding sequence variant
rs199422168	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422169	AT>-,ATAT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422170	GTTT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422171	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422172	ATATA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422173	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422174	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422175	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422176	TT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422177	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422178	A>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422179	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422180	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422181	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422182	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422183	->AATG	Pathogenic	Frameshift variant, coding sequence variant
rs199422184	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422185	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422186	T>A	Pathogenic	Stop gained, coding sequence variant
rs199422187	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422188	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422189	G>C	Pathogenic	Stop gained, coding sequence variant
rs199422190	T>A	Pathogenic	Stop gained, coding sequence variant
rs199422191	->C	Pathogenic	Frameshift variant, coding sequence variant
rs199422192	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422193	AATTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422194	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422195	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422196	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422197	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422198	A>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199422199	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs199422200	C>A	Pathogenic	Splice donor variant
rs199422201	G>T	Pathogenic	Stop gained, coding sequence variant
rs199910503	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs201362977	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202193200	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs370972881	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs374040448	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs375911555	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs555866170	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs563858170	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs587783211	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783215	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs587783216	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783220	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783221	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783225	A>G	Pathogenic	Splice donor variant
rs587783227	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783228	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783230	A>C	Pathogenic	Stop gained, coding sequence variant
rs587783238	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783239	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783240	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783245	CT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783247	A>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783248	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783258	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783259	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783263	->CAGT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783265	AG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783268	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783269	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783272	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783275	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783277	TT>-,T	Pathogenic	Coding sequence variant, frameshift variant
rs587783278	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783280	GT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783282	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs587783283	TT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783285	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783287	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783288	A>T	Pathogenic	Stop gained, coding sequence variant
rs587783289	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783292	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783295	G>A	Pathogenic	Stop gained, coding sequence variant
rs730882076	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs745997770	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs748529285	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749462358	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs750664956	CT>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs753406334	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained, synonymous variant, intron variant
rs754909135	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs756879923	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs759632528	->T	Pathogenic	Frameshift variant, coding sequence variant
rs761447719	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs763800571	TTCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs763909256	G>A,T	Pathogenic	Stop gained, intron variant, coding sequence variant, missense variant
rs765275884	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765530357	GATAT>-	Pathogenic	Stop gained, inframe indel, intron variant, coding sequence variant
rs769364943	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs769818500	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs770540184	TTTC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs771583813	AACT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs772050241	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, intron variant
rs774338373	G>A	Pathogenic	Coding sequence variant, stop gained
rs774814318	AAA>-,AA,AAAA	Pathogenic	Coding sequence variant, frameshift variant, inframe deletion, stop gained
rs776034810	G>A,T	Likely-pathogenic	Intron variant, stop gained, missense variant, coding sequence variant
rs786205609	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045311	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045313	TTAC>-	Pathogenic	Splice donor variant, intron variant
rs797045314	A>C,G	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, synonymous variant
rs797045315	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045316	TTTT>-,TTTTT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876660959	T>-,TT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876660960	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876660961	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661036	A>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs876661154	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041282	AATCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886041709	C>G	Pathogenic, likely-pathogenic	Splice donor variant
rs886041720	A>T	Pathogenic	Coding sequence variant, stop gained
rs886041721	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886043249	C>T	Pathogenic	Coding sequence variant, stop gained
rs933106143	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1057518268	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518269	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057520873	C>A,G	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs1060499757	CT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1060499758	C>T	Likely-pathogenic	Intron variant
rs1064793707	->C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1064795945	AAGT>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1163303148	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1170413397	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1189399471	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1226333994	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant
rs1291666293	TTTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1321892596	C>A,G	Pathogenic	Splice acceptor variant
rs1334301723	CTTT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1334947797	C>A,G	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1404276011	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1482100822	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553223323	->T	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553223496	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1553225179	->T	Pathogenic	Coding sequence variant, stop gained
rs1553227015	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553227021	C>T	Pathogenic	Coding sequence variant, stop gained
rs1553227645	TTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553227742	G>C	Pathogenic	Coding sequence variant, stop gained
rs1553228009	->CA	Pathogenic	Frameshift variant, coding sequence variant
rs1553228275	C>G	Pathogenic	Splice donor variant
rs1553325275	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553326645	C>G	Likely-pathogenic	Splice acceptor variant
rs1553326840	C>T	Pathogenic	Splice donor variant
rs1557966012	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1558328287	TT>-,T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1571596976	AA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571599902	AGTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571600045	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571600860	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571601267	AG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571602991	AT>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1571616951	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1571630284	TAG>AA	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016478	hsa-miR-193b-3p	Microarray	20304954
MIRT024686	hsa-miR-215-5p	Microarray	19074876
MIRT026460	hsa-miR-192-5p	Microarray	19074876
MIRT029549	hsa-miR-26b-5p	Microarray	19088304
MIRT052495	hsa-let-7a-5p	CLASH	23622248
MIRT441168	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441168	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT803183	hsa-miR-1284	CLIP-seq
MIRT803184	hsa-miR-3119	CLIP-seq
MIRT803185	hsa-miR-34b	CLIP-seq
MIRT803186	hsa-miR-3647-3p	CLIP-seq
MIRT803187	hsa-miR-433	CLIP-seq
MIRT803188	hsa-miR-4704-5p	CLIP-seq
MIRT803189	hsa-miR-4724-5p	CLIP-seq
MIRT803190	hsa-miR-509-3p	CLIP-seq
MIRT803191	hsa-miR-548c-3p	CLIP-seq
MIRT803192	hsa-miR-548p	CLIP-seq
MIRT803193	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Activation	16123590
FOXJ1	Unknown	16809635

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IDA	21044324
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007051	Process	Spindle organization	IEA
GO:0007051	Process	Spindle organization	IMP	21044324
GO:0007283	Process	Spermatogenesis	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007420	Process	Brain development	IEA
GO:0008356	Process	Asymmetric cell division	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0021873	Process	Forebrain neuroblast division	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030496	Component	Midbody	IEA
GO:0036449	Component	Microtubule minus-end	IDA	21044324
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045769	Process	Negative regulation of asymmetric cell division	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0051301	Process	Cell division	IEA
GO:0051445	Process	Regulation of meiotic cell cycle	IEA
GO:0051653	Process	Spindle localization	IMP	21044324
GO:0051661	Process	Maintenance of centrosome location	IEA
GO:0072687	Component	Meiotic spindle	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0090306	Process	Meiotic spindle assembly	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEA
GO:0097431	Component	Mitotic spindle pole	IDA	15972725, 21044324
GO:0097431	Component	Mitotic spindle pole	IEA

Other IDs

• MIM: 605481
• HGNC: 19048
• e!Ensembl: ENSG00000066279

Protein

• UniProt ID: Q8IZT6
• Protein name: Abnormal spindle-like microcephaly-associated protein (Abnormal spindle protein homolog) (Asp homolog)
• Protein function: Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depen
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15780	ASH	37 → 134		Domain
  PF00307	CH	1110 → 1261	Calponin homology (CH) domain	Domain
  PF00612	IQ	1316 → 1336	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1348 → 1368	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1394 → 1414	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1465 → 1485	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1488 → 1508	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1560 → 1580	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1583 → 1603	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1633 → 1652	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1656 → 1676	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1729 → 1749	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1752 → 1772	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1802 → 1822	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1826 → 1845	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1848 → 1865	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1875 → 1895	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1898 → 1918	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1971 → 1991	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2021 → 2041	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2044 → 2064	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2094 → 2114	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2190 → 2210	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2240 → 2260	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2312 → 2332	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2335 → 2355	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2385 → 2405	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2408 → 2428	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2458 → 2478	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2481 → 2500	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2532 → 2551	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2625 → 2645	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2666 → 2686	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2689 → 2709	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2739 → 2759	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2860 → 2880	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2933 → 2953	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2955 → 2975	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3030 → 3050	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3080 → 3100	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3182 → 3202	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3205 → 3223	IQ calmodulin-binding motif	Motif

• Sequence:

  MANRRVGRGCWEVSPTERRPPAGLRGPAAEEEASSPPVLSLSHFCRSPFLCFGDVLLGAS
  RTLSLALDNPNEEVAEVKISHFPAADLGFSVSQRCFVLQPKEKIVISVNWTPLKEGRVRE
  IMTFLVNDVLKHQAILLGNAEEQKKKKRSLWDTIKKKKISASTSHNRRVSNIQNVNKTFS
  VSQKVDRVRSPLQACENLAMNEGGPPTENNSLILEENKIPISPISPAFNECHGATCLPLS
  VRRSTTYSSLHASENRELLNVHSANVSKVSFNEKAVTETSFNSVNVNGQRGENSKLSLTP
  NCSSTLNITQSQIHFLSPDSFVNNSHGANNELELVTCLSSDMFMKDNSQPVHLESTIAHE
  IYQKILSPDSFIKDNYGLNQDLESESVNPILSPNQFLKDNMAYMCTSQQTCKVPLSNENS
  QVPQSPEDWRKSEVSPRIPECQGSKSPKAIFEELVEMKSNYYSFIKQNNPKFSAVQDISS
  HSHNKQPKRRPILSATVTKRKATCTRENQTEINKPKAKRCLNSAVGEHEKVINNQKEKED
  FHSYLPIIDPILSKSKSYKNEVTPSSTTASVARKRKSDGSMEDANVRVAITEHTEVREIK
  RIHFSPSEPKTSAVKKTKNVTTPISKRISNREKLNLKKKTDLSIFRTPISKTNKRTKPII
  AVAQSSLTFIKPLKTDIPRHPMPFAAKNMFYDERWKEKQEQGFTWWLNFILTPDDFTVKT
  NISEVNAATLLLGIENQHKISVPRAPTKEEMSLRAYTARCRLNRLRRAACRLFTSEKMVK
  AIKKLEIEIEARRLIVRKDRHLWKDVGERQKVLNWLLSYNPLWLRIGLETTYGELISLED
  NSDVTGLAMFILNRLLWNPDIAAEYRHPTVPHLYRDGHEEALSKFTLKKLLLLVCFLDYA
  KISRLIDHDPCLFCKDAEFKASKEILLAFSRDFLSGEGDLSRHLGLLGLPVNHVQTPFDE
  FDFAVTNLAVDLQCGVRLVRTMELLTQNWDLSKKLRIPAISRLQKMHNVDIVLQVLKSRG
  IELSDEHGNTILSKDIVDRHREKTLRLLWKIAFAFQVDISLNLDQLKEEIAFLKHTKSIK
  KTISLLSCHSDDLINKKKGKRDSGSFEQYSENIKLLMDWVNAVCAFYNKKVENFTVSFSD
  GRVLCYLIHHYHPCYVPFDAICQRTTQTVECTQTGSVVLNSSSESDDSSLDMSLKAFDHE
  NTSELYKELLENEKKNFHLVRSAVRDLGGIPAMINHSDMSNTIPDEKVVITYLSFLCARL
  LDLRKEIRAARLIQTTWRKYKLKTDLKRHQEREKAARIIQLAVINFLAKQRLRKRVNAAL
  VIQKYWRRVLAQRKLLMLKKEKLEKVQNKAASLIQGYWRRYSTRQRFLKLKYYSIILQSR
  IRMIIAVTSYKRYLWATVTIQRHWRAYLRRKQDQQRYEMLKSSTLIIQSMFRKWKQRKMQ
  SQVKATVILQRAFREWHLRKQAKEENSAIIIQSWYRMHKELRKYIYIRSCVVIIQKRFRC
  FQAQKLYKRRKESILTIQKYYKAYLKGKIERTNYLQKRAAAIQLQAAFRRLKAHNLCRQI
  RAACVIQSYWRMRQDRVRFLNLKKTIIKFQAHVRKHQQRQKYKKMKKAAVIIQTHFRAYI
  FAMKVLASYQKTRSAVIVLQSAYRGMQARKMYIHILTSVIKIQSYYRAYVSKKEFLSLKN
  ATIKLQSTVKMKQTRKQYLHLRAAALFIQQCYRSKKIAAQKREEYMQMRESCIKLQAFVR
  GYLVRKQMRLQRKAVISLQSYFRMRKARQYYLKMYKAIIVIQNYYHAYKAQVNQRKNFLQ
  VKKAATCLQAAYRGYKVRQLIKQQSIAALKIQSAFRGYNKRVKYQSVLQSIIKIQRWYRA
  YKTLHDTRTHFLKTKAAVISLQSAYRGWKVRKQIRREHQAALKIQSAFRMAKAQKQFRLF
  KTAALVIQQNFRAWTAGRKQCMEYIELRHAVLVLQSMWKGKTLRRQLQRQHKCAIIIQSY
  YRMHVQQKKWKIMKKAALLIQKYYRAYSIGREQNHLYLKTKAAVVTLQSAYRGMKVRKRI
  KDCNKAAVTIQSKYRAYKTKKKYATYRASAIIIQRWYRGIKITNHQHKEYLNLKKTAIKI
  QSVYRGIRVRRHIQHMHRAATFIKAMFKMHQSRISYHTMRKAAIVIQVRCRAYYQGKMQR
  EKYLTILKAVKVLQASFRGVRVRRTLRKMQTAATLIQSNYRRYRQQTYFNKLKKITKTVQ
  QRYWAMKERNIQFQRYNKLRHSVIYIQAIFRGKKARRHLKMMHIAATLIQRRFRTLMMRR
  RFLSLKKTAILIQRKYRAHLCTKHHLQFLQVQNAVIKIQSSYRRWMIRKRMREMHRAATF
  IQSTFRMHRLHMRYQALKQASVVIQQQYQANRAAKLQRQHYLRQRHSAVILQAAFRGMKT
  RRHLKSMHSSATLIQSRFRSLLVRRRFISLKKATIFVQRKYRATICAKHKLYQFLHLRKA
  AITIQSSYRRLMVKKKLQEMQRAAVLIQATFRMYRTYITFQTWKHASILIQQHYRTYRAA
  KLQRENYIRQWHSAVVIQAAYKGMKARQLLREKHKASIVIQSTYRMYRQYCFYQKLQWAT
  KIIQEKYRANKKKQKVFQHNELKKETCVQAGFQDMNIKKQIQEQHQAAIIIQKHCKAFKI
  RKHYLHLRATVVSIQRRYRKLTAVRTQAVICIQSYYRGFKVRKDIQNMHRAATLIQSFYR
  MHRAKVDYETKKTAIVVIQNYYRLYVRVKTERKNFLAVQKSVRTIQAAFRGMKVRQKLKN
  VSEEKMAAIVNQSALCCYRSKTQYEAVQSEGVMIQEWYKASGLACSQEAEYHSQSRAAVT
  IQKAFCRMVTRKLETQKCAALRIQFFLQMAVYRRRFVQQKRAAITLQHYFRTWQTRKQFL
  LYRKAAVVLQNHYRAFLSAKHQRQVYLQIRSSVIIIQARSKGFIQKRKFQEIKNSTIKIQ
  AMWRRYRAKKYLCKVKAACKIQAWYRCWRAHKEYLAILKAVKIIQGCFYTKLERTRFLNV
  RASAIIIQRKWRAILPAKIAHEHFLMIKRHRAACLIQAHYRGYKGRQVFLRQKSAALIIQ
  KYIRAREAGKHERIKYIEFKKSTVILQALVRGWLVRKRFLEQRAKIRLLHFTAAAYYHLN
  AVRIQRAYKLYLAVKNANKQVNSVICIQRWFRARLQEKRFIQKYHSIKKIEHEGQECLSQ
  RNRAASVIQKAVRHFLLRKKQEKFTSGIIKIQALWRGYSWRKKNDCTKIKAIRLSLQVVN
  REIREENKLYKRTALALHYLLTYKHLSAILEALKHLEVVTRLSPLCCENMAQSGAISKIF
  VLIRSCNRSIPCMEVIRYAVQVLLNVSKYEKTTSAVYDVENCIDILLELLQIYREKPGNK
  VADKGGSIFTKTCCLLAILLKTTNRASDVRSRSKVVDRIYSLYKLTAHKHKMNTERILYK
  QKKNSSISIPFIPETPVRTRIVSRLKPDWVLRRDNMEEITNPLQAIQMVMDTLGIPY

• Sequence length: 3477

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
Abnormality of the nervous system	Pathogenic	rs2125095360, rs2125113775, rs2125113873, rs199422147	RCV001814472 RCV001814532 RCV001814471 RCV001814007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic; Pathogenic	rs886041709, rs774338373	RCV000855492 RCV000855491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASPM-related disorder	Likely pathogenic; Pathogenic	rs587783265, rs587783280, rs757252885, rs2527402190, rs199422173	RCV003407562 RCV004752754 RCV003405975 RCV003956654 RCV003421927	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive primary microcephaly	Likely pathogenic; Pathogenic	rs2125096196, rs587783225, rs587783265, rs137852994, rs1558328295, rs199422161, rs555866170, rs776034810, rs772050241	RCV003120842 RCV001193345 RCV003317099 RCV001193347 RCV003330447 RCV001193346 RCV005239098 RCV000605641 RCV003994113	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs886041709, rs774338373	RCV000855492 RCV000855491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs199422192, rs1245021867	RCV001291087 RCV001252164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic; Pathogenic	rs1163303148	RCV001807346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic; Likely pathogenic	rs1463609963, rs199422161, rs1060499758, rs1060499757, rs199422146, rs1163303148	RCV001526515 RCV001526516 RCV000454144 RCV000454355 RCV000454234 RCV001807346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly 1, primary, autosomal recessive	Pathogenic	rs199422151, rs199422152, rs199422155, rs199422173, rs199422195, rs1558328287, rs1571600860	RCV000856770 RCV000856771 RCV006261723 RCV000856804 RCV006261941 RCV000856807 RCV000856794	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly 5, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs77424753, rs774143329, rs1451306414, rs1240081512, rs2125113873, rs1160186494, rs1353421249, rs2125107877, rs2125093720, rs2125107452, rs368682161, rs2125107857, rs2125096622, rs2125087894, rs2125114846, rs1656796807, rs2125089566, rs751326753, rs754767041, rs587783259, rs1657341426, rs730882076, rs587783211, rs2125095313, rs2125096196, rs2125088498, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs2125093662, rs2527303681, rs2527406464, rs779765020, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs2527298688, rs761447719, rs753406334, rs147622433, rs199422137, rs2527364187, rs1488146761, rs2527403805, rs2527305337, rs753260382, rs199422169, rs886041709, rs886041282, rs2527407498, rs2527295551, rs1557946448, rs2527295538, rs773592526, rs2527335439, rs2527345547, rs770377142, rs746863848, rs933499397, rs2527261243, rs2527366225, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422155, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs199422146, rs1064795945, rs763800571, rs1553227021, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs745997770, rs765275884, rs1482100822, rs763909256, rs199910503, rs1553223496, rs1553225179, rs769364943, rs1334301723, rs142865061, rs772050241, rs1557966012, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1571596976, rs771583813, rs1170413397, rs1245021867, rs2527287298, rs770579201, rs2527402086, rs2527402674, rs2527412530, rs758549961, rs2125093294, rs2125112411, rs759485449	RCV001331028 RCV001331027 RCV001331025 RCV001330824 RCV005635174 RCV001542638 RCV001542639 RCV001844388 RCV001693503 RCV001775252 RCV001775253 RCV001784895 RCV001784898 RCV001784908 RCV001784913 RCV001780650 RCV001780651 RCV003130553 RCV003451968 RCV002290816 RCV003444966 RCV004796126 RCV000145074 RCV002210935 RCV002226919 RCV002227856 RCV000145078 RCV000145079 RCV000145085 RCV000145087 RCV000145099 RCV000145102 RCV000145105 RCV000145111 RCV000145121 RCV000145122 RCV000145124 RCV000145134 RCV000145139 RCV000145142 RCV000145166 RCV000145172 RCV000145177 RCV000145180 RCV000145190 RCV000145191 RCV000145199 RCV000145206 RCV000145208 RCV000145209 RCV000145215 RCV000145218 RCV000145219 RCV000145222 RCV000145225 RCV000145226 RCV000145229 RCV000145235 RCV000145241 RCV002272845 RCV002283606 RCV002283743 RCV002291446 RCV000005244 RCV000005246 RCV000005247 RCV000005248 RCV000005249 RCV000005250 RCV000005251 RCV000005253 RCV000194402 RCV000192379 RCV000193254 RCV000193186 RCV000193074 RCV000194147 RCV000194072 RCV004796750 RCV000490408 RCV004786610 RCV003454673 RCV000235002 RCV003129591 RCV003140416 RCV003225880 RCV003130426 RCV003223468 RCV000020785 RCV002503977 RCV001782765 RCV003338195 RCV003338196 RCV003486303 RCV003486304 RCV003486305 RCV003984991 RCV003988769 RCV003989969 RCV004547268 RCV004547347 RCV004557243 RCV004594892 RCV000020741 RCV000020742 RCV000020744 RCV000020748 RCV000020750 RCV000020759 RCV000020760 RCV000020761 RCV000020764 RCV000020767 RCV000020770 RCV000020771 RCV000020772 RCV000020773 RCV000020777 RCV000020778 RCV000020780 RCV000020782 RCV000020784 RCV000020790 RCV000020796 RCV000020797 RCV000020803 RCV000020807 RCV000020811 RCV000020812 RCV000020813 RCV000020816 RCV000020819 RCV000020822 RCV000020824 RCV000020825 RCV000020826 RCV000020827 RCV000020830 RCV002470853 RCV003449037 RCV000416559 RCV000416534 RCV000502418 RCV000020749 RCV000678376 RCV003449261 RCV000579385 RCV000504160 RCV000501361 RCV000503898 RCV000501645 RCV000503412 RCV000500639 RCV000656088 RCV000656089 RCV003451296 RCV000626188 RCV000762873 RCV003451481 RCV000678244 RCV003453512 RCV000714742 RCV000778956 RCV000778206 RCV000785924 RCV002487668 RCV003453775 RCV001007666 RCV001007661 RCV001007665 RCV001007664 RCV000984489 RCV005633805 RCV003455066 RCV005866898 RCV001255755 RCV001255781 RCV001255762 RCV001255777 RCV001255763 RCV001255776 RCV001255782 RCV001289469 RCV001290380 RCV001507254 RCV001507253 RCV003449885	★★★★★ 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
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12518376, 26457809, 28060110, 28440015, 29165013, 29217160		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16320248		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19949890, 25796627		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12518376, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	20694558		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	18541031		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12684256, 15033338, 15885796, 20132478		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	27796151		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	2346784	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	21633703		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	21633703	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23896173, 31595972		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	29243349	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35200126	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG	31680123		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18636190		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35003319	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	11067780, 12355089, 14574646, 15972725, 16141009, 16673149, 17566767, 17849285, 19332161, 19353628, 19770472, 19808985, 21668957, 22308068, 23611254, 24148351, 27784895, 28004384, 29431480		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	11067780, 11078481, 12362027, 14574646, 14704186, 16141009, 19028728, 21044324, 24830737, 27920410, 29058117, 29243349, 29504900, 32677750, 34378666, 34402213, 34507672, 35327983	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Behcet Syndrome	Behcet disease	Pubtator	37335738	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30675249, 31828101		★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	29058117	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29243349	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30336339		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27026610, 34384030	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35403252	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22539975, 28086821, 31822116, 32046048, 32685486, 33157984, 34315286, 34746301, 36120772, 36882493, 37861550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30675249, 31828101		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21505456, 24830737, 33726773	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31465125	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23019229, 34606125, 34699322	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37309171	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21505456		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25447692	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30786942		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	27250695		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10910927, 12518376, 19741605, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	20694558		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32040444	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	BEFREE	27876500		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25447692, 35327983	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23948443, 24331409		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	19770472, 22308068		★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	14574646, 18331833, 29253521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30988807		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24073849	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24782052		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25202993		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia Congenital	Dysfibrinogenemia	Pubtator	11071644	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12355089, 15806441, 16141009, 18452193, 19028728, 19332161, 19770472, 20978018, 22775483, 27250695		★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	2328319	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	1679439, 8018926	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29693365, 32555395, 36186000	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35327983	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21505456		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32443386	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	22011642, 22130450		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17090670		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18636190, 20694558		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	39528802	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18636190, 20694558		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18636190		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18636190		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31119860		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	18541031		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25447692	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	14574646, 31119860		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	14574646, 19028728, 30500859, 34507672, 35327983	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation	Baraitser-Winter Syndrome	BEFREE	29388391		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	24849541	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27885727, 9490695		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18676753		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22539975, 27876500		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27876500		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35608130	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18541031	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	29706646		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	18636190		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31570005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30336339		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21505456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31595972		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28213802, 30390070		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30675249, 31828101		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18636190, 28213802, 29113054		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20694558, 21850537		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20520718	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere Disease	Meniere disease	Pubtator	35741759	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20080800		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	14574646		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33032291	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	15090635	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	14574646, 15355437		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	Pubtator	14574646, 14704186, 16141009, 19028728, 21044324, 21633703, 24830737, 26846091, 27920410, 29058117, 29243349, 32677750, 34068194, 34378666, 34507672, 35327983	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	BEFREE	14641475, 15972725, 16563589, 18452193, 19332161, 19770472, 20823249, 20961963, 21633703, 28883092, 29253521, 30392784		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 5	Microcephaly	GENOMICS_ENGLAND_DG	12355089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 5	Microcephaly	CLINVAR_DG	12355089, 19770472, 29706646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 5	Microcephaly	BEFREE	20978018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 5	Microcephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25447692		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25447692	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12355089, 15806441, 16141009, 18452193, 19028728, 19332161, 19770472, 20978018, 22775483, 27250695		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31194992		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31194992		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	22011642	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18636190, 20694558, 21505456, 23948443, 25796627		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	39289658	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24331409, 25173530, 26860843, 27127129		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12438443, 8772727		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	15090635	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	20133602		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	20133602	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33578541	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21505456		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21505456	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31595972		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31515171		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31091247	Associate	★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	16563589		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	14641475, 14997185, 15355437, 16141009, 18452193, 19770472, 22308068, 27250695, 29058117		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28213802, 30390070		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14872483, 29735171		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	10924404, 25720829		★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	16141009	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27250695		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27796151	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23254957		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31828101, 32047816	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	15744037	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only