DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)

Gene

• Entrez ID: 79659
• Gene name: Dynein cytoplasmic 2 heavy chain 1
• Gene symbol: DYNC2H1
• Synonyms (NCBI Gene): ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11
• Chromosome: 11
• Chromosome location: 11q22.3
• Summary: This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectru

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853025	A>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs137853026	A>G	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853027	A>G	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853028	T>C	Pathogenic	Coding sequence variant, missense variant
rs137853029	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs137853030	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853031	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs137853032	C>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs137853033	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853034	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137853035	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs138290301	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs142881106	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142920070	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs150887098	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs181011657	C>T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs184256941	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs185613200	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs187451323	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs189100009	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs189533535	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189806840	C>A	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs192003811	T>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200170585	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs200190291	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs200342335	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs200466720	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200614421	G>A,T	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs200710887	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201479015	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201563576	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201829296	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201967064	A>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202071528	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs368631447	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs368654019	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs368802969	A>G	Benign, pathogenic	Intron variant
rs369658526	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs370627443	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs371011047	G>T	Pathogenic	Stop gained, coding sequence variant
rs371214841	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs371259464	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371932985	A>C,G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs371940321	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs372878677	G>A,T	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs372964069	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373335226	T>G	Pathogenic	Stop gained, coding sequence variant
rs373521030	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs373924400	C>G,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs373977008	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs376067770	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs376892534	G>A	Likely-pathogenic	Intron variant
rs397514635	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs397514636	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs397514637	C>T	Pathogenic	Missense variant, coding sequence variant
rs431905498	GT>AA	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs431905499	G>T	Pathogenic	Splice donor variant
rs431905500	T>-,TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs431905507	A>-,AA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs537704873	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs548328948	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs552436294	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs555339053	A>C,T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs561778796	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs562139820	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs727503908	G>A,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs745870321	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs746195428	G>A,C	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs747348765	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs747857715	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs748906528	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs751030969	C>T	Pathogenic	Coding sequence variant, missense variant
rs751891969	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs753662982	A>G	Pathogenic	Coding sequence variant, missense variant
rs754919042	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs755305630	C>G	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs755338872	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs755441612	C>T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs755505546	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs755883373	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs756556129	T>A	Pathogenic	Missense variant, coding sequence variant
rs756811136	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs758155107	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs758727391	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs759549373	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs759649136	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs760635983	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs761765709	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs762588952	T>G	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs762666243	T>C	Pathogenic	Splice donor variant
rs762873763	A>G	Pathogenic	Splice acceptor variant
rs764769351	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs764926983	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs765454943	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs766672853	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766816050	GATA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs767206815	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs767846762	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs769053227	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs770380730	G>A	Pathogenic	Coding sequence variant, missense variant
rs770800903	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs771003300	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs771487311	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs771511132	T>A	Pathogenic	Coding sequence variant, missense variant
rs773897318	TTCTTA>-	Pathogenic	Coding sequence variant, inframe deletion
rs774610143	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs775426647	T>A	Pathogenic	Coding sequence variant, missense variant
rs775505863	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs775971666	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs776315442	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs776407305	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs777396565	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs780539887	T>-	Pathogenic	Splice donor variant
rs780600124	G>A	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs780855765	G>A	Pathogenic	Missense variant, coding sequence variant
rs781326398	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs794727595	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727767	T>C,G	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs794727944	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs864622111	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs864622357	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864622358	G>A	Pathogenic	Splice donor variant
rs878852996	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs878854166	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs886039812	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs896105030	G>T	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs901629870	C>G	Pathogenic	Coding sequence variant, missense variant
rs943680446	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs963717773	C>T	Pathogenic	Missense variant, coding sequence variant
rs964711006	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs969015057	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1043384862	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518898	G>A,C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1064796228	TAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131690803	G>A	Pathogenic	Missense variant, coding sequence variant
rs1160036887	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1178331074	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs1196317554	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1202784860	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1214801816	C>G,T	Pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1218198013	AAAAG>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1223907858	TTAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1243999036	C>T	Pathogenic	Coding sequence variant, missense variant
rs1260978141	C>T	Pathogenic	Stop gained, coding sequence variant
rs1261505725	T>G	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1309577378	G>A	Pathogenic	Stop gained, coding sequence variant
rs1322884865	C>T	Pathogenic	Coding sequence variant, missense variant
rs1332318318	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1350329646	C>A,T	Pathogenic	Synonymous variant, 3 prime UTR variant, coding sequence variant, missense variant
rs1380132788	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1384888093	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1386343205	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1453448143	AGAC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1461272672	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555038664	TGGAAAGCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555041449	T>A	Pathogenic	Coding sequence variant, missense variant
rs1555042801	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1555043520	T>G	Pathogenic	Coding sequence variant, missense variant
rs1555049536	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555051720	->GTCACAACA	Pathogenic, likely-pathogenic	Coding sequence variant, inframe insertion
rs1555051794	G>A	Likely-pathogenic	Splice donor variant
rs1555052497	G>C	Likely-pathogenic	Splice acceptor variant
rs1555052511	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555052524	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555053115	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555054771	T>A	Pathogenic	Coding sequence variant, missense variant
rs1555056464	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555057503	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555057838	G>C	Pathogenic	Coding sequence variant, missense variant
rs1555057881	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555060411	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555060940	A>G	Pathogenic	Splice acceptor variant
rs1555061205	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555061228	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555062340	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555062849	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555063811	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1555064376	T>C	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1555066796	TTACCTCCA>-	Pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1555068270	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555068636	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555070451	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555071484	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555071503	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555076918	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555077194	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555081345	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555082470	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555095233	G>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555096711	T>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555098222	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555143920	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1565310938	->TTTATAACTTGGACAGTCTATCCTTACTA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1565311145	T>A	Pathogenic	Coding sequence variant, stop gained
rs1565317399	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1565329461	G>A	Pathogenic	Splice donor variant
rs1565371538	G>A	Likely-pathogenic	Splice donor variant
rs1565390180	CC>AT	Pathogenic	Coding sequence variant, inframe indel, stop gained, genic downstream transcript variant
rs1565394086	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1565408472	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1565423740	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs1565438488	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020503	hsa-miR-155-5p	Proteomics	18668040
MIRT022185	hsa-miR-124-3p	Microarray	18668037
MIRT052554	hsa-let-7a-5p	CLASH	23622248
MIRT045954	hsa-miR-125b-5p	CLASH	23622248
MIRT043435	hsa-miR-331-3p	CLASH	23622248
MIRT949083	hsa-miR-186	CLIP-seq
MIRT949084	hsa-miR-204	CLIP-seq
MIRT949085	hsa-miR-211	CLIP-seq
MIRT949086	hsa-miR-3133	CLIP-seq
MIRT949087	hsa-miR-320a	CLIP-seq
MIRT949088	hsa-miR-320b	CLIP-seq
MIRT949089	hsa-miR-320c	CLIP-seq
MIRT949090	hsa-miR-320d	CLIP-seq
MIRT949091	hsa-miR-4429	CLIP-seq
MIRT949092	hsa-miR-4755-5p	CLIP-seq
MIRT949093	hsa-miR-623	CLIP-seq
MIRT949094	hsa-miR-3065-5p	CLIP-seq
MIRT949095	hsa-miR-3913-3p	CLIP-seq
MIRT949096	hsa-miR-4276	CLIP-seq
MIRT949097	hsa-miR-4477a	CLIP-seq
MIRT949098	hsa-miR-4803	CLIP-seq
MIRT949099	hsa-miR-489	CLIP-seq
MIRT2387178	hsa-miR-3140-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003774	Function	Cytoskeletal motor activity	NAS	8666668
GO:0005515	Function	Protein binding	IPI	29742051
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	8666668
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	21723285, 25830415
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007030	Process	Golgi organization	IDA	8666668
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IDA	21723285
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0060976	Process	Coronary vasculature development	IEA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097542	Component	Ciliary tip	TAS
GO:0097729	Component	9+2 motile cilium	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 603297
• HGNC: 2962
• e!Ensembl: ENSG00000187240

Protein

• UniProt ID: Q8NCM8
• Protein name: Cytoplasmic dynein 2 heavy chain 1 (Cytoplasmic dynein 2 heavy chain) (Dynein cytoplasmic heavy chain 2) (Dynein heavy chain 11) (hDHC11) (Dynein heavy chain isotype 1B)
• Protein function: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).
• PDB: 4RH7, 8RGG, 8RGH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08385	DHC_N1	161 → 674	Dynein heavy chain, N-terminal region 1	Family
  PF08393	DHC_N2	1117 → 1518	Dynein heavy chain, N-terminal region 2	Family
  PF12774	AAA_6	1651 → 1986	Hydrolytic ATP binding site of dynein motor region	Domain
  PF12775	AAA_7	2261 → 2433		Domain
  PF12780	AAA_8	2625 → 2882	P-loop containing dynein motor region D4	Domain
  PF12777	MT	2895 → 3231	Microtubule-binding stalk of dynein motor	Domain
  PF12781	AAA_9	3251 → 3471	ATP-binding dynein motor region	Domain
  PF03028	Dynein_heavy	3719 → 3829	Dynein heavy chain region D6 P-loop domain	Domain
  PF18198	AAA_lid_11	3843 → 4002	Dynein heavy chain AAA lid domain	Domain
  PF18199	Dynein_C	4005 → 4304	Dynein heavy chain C-terminal domain	Domain

• Sequence:

  MANGTADVRKLFIFTTTQNYFGLMSELWDQPLLCNCLEINNFLDDGNQMLLRVQRSDAGI
  SFSNTIEFGDTKDKVLVFFKLRPEVITDENLHDNILVSSMLESPISSLYQAVRQVFAPML
  LKDQEWSRNFDPKLQNLLSELEAGLGIVLRRSDTNLTKLKFKEDDTRGILTPSDEFQFWI
  EQAHRGNKQISKERANYFKELFETIAREFYNLDSLSLLEVVDLVETTQDVVDDVWRQTEH
  DHYPESRMLHLLDIIGGSFGRFVQKKLGTLNLWEDPYYLVKESLKAGISICEQWVIVCNH
  LTGQVWQRYVPHPWKNEKYFPETLDKLGKRLEEVLAIRTIHEKFLYFLPASEEKIICLTR
  VFEPFTGLNPVQYNPYTEPLWKAAVSQYEKIIAPAEQKIAGKLKNYISEIQDSPQQLLQA
  FLKYKELVKRPTISKELMLERETLLARLVDSIKDFRLDFENRCRGIPGDASGPLSGKNLS
  EVVNSIVWVRQLELKVDDTIKIAEALLSDLPGFRCFHQSAKDLLDQLKLYEQEQFDDWSR
  DIQSGLSDSRSGLCIEASSRIMELDSNDGLLKVHYSDRLVILLREVRQLSALGFVIPAKI
  QQVANIAQKFCKQAIILKQVAHFYNSIDQQMIQSQRPMMLQSALAFEQIIKNSKAGSGGK
  SQITWDNPKELEGYIQKLQNAAERLATENRKLRKWHTTFCEKVVVLMNIDLLRQQQRWKD
  GLQELRTGLATVEAQGFQASDMHAWKQHWNHQLYKALEHQYQMGLEALNENLPEINIDLT
  YKQGRLQFRPPFEEIRAKYYREMKRFIGIPNQFKGVGEAGDESIFSIMIDRNASGFLTIF
  SKAEDLFRRLSAVLHQHKEWIVIGQVDMEALVEKHLFTVHDWEKNFKALKIKGKEVERLP
  SAVKVDCLNINCNPVKTVIDDLIQKLFDLLVLSLKKSIQAHLHEIDTFVTEAMEVLTIMP
  QSVEEIGDANLQYSKLQERKPEILPLFQEAEDKNRLLRTVAGGGLETISNLKAKWDKFEL
  MMESHQLMIKDQIEVMKGNVKSRLQIYYQELEKFKARWDQLKPGDDVIETGQHNTLDKSA
  KLIKEKKIEFDDLEVTRKKLVDDCHHFRLEEPNFSLASSISKDIESCAQIWAFYEEFQQG
  FQEMANEDWITFRTKTYLFEEFLMNWHDRLRKVEEHSVMTVKLQSEVDKYKIVIPILKYV
  RGEHLSPDHWLDLFRLLGLPRGTSLEKLLFGDLLRVADTIVAKAADLKDLNSRAQGEVTI
  REALRELDLWGVGAVFTLIDYEDSQSRTMKLIKDWKDIVNQVGDNRCLLQSLKDSPYYKG
  FEDKVSIWERKLAELDEYLQNLNHIQRKWVYLEPIFGRGALPKEQTRFNRVDEDFRSIMT
  DIKKDNRVTTLTTHAGIRNSLLTILDQLQRCQKSLNEFLEEKRSAFPRFYFIGDDDLLEI
  LGQSTNPSVIQSHLKKLFAGINSVCFDEKSKHITAMKSLEGEVVPFKNKVPLSNNVETWL
  NDLALEMKKTLEQLLKECVTTGRSSQGAVDPSLFPSQILCLAEQIKFTEDVENAIKDHSL
  HQIETQLVNKLEQYTNIDTSSEDPGNTESGILELKLKALILDIIHNIDVVKQLNQIQVHT
  TEDWAWKKQLRFYMKSDHTCCVQMVDSEFQYTYEYQGNASKLVYTPLTDKCYLTLTQAMK
  MGLGGNPYGPAGTGKTESVKALGGLLGRQVLVFNCDEGIDVKSMGRIFVGLVKCGAWGCF
  DEFNRLEESVLSAVSMQIQTIQDALKNHRTVCELLGKEVEVNSNSGIFITMNPAGKGYGG
  RQKLPDNLKQLFRPVAMSHPDNELIAEVILYSEGFKDAKVLSRKLVAIFNLSRELLTPQQ
  HYDWGLRALKTVLRGSGNLLRQLNKSGTTQNANESHIVVQALRLNTMSKFTFTDCTRFDA
  LIKDVFPGIELKEVEYDELSAALKQVFEEANYEIIPNQIKKALELYEQLCQRMGVVIVGP
  SGAGKSTLWRMLRAALCKTGKVVKQYTMNPKAMPRYQLLGHIDMDTREWSDGVLTNSARQ
  VVREPQDVSSWIICDGDIDPEWIESLNSVLDDNRLLTMPSGERIQFGPNVNFVFETHDLS
  CASPATISRMGMIFLSDEETDLNSLIKSWLRNQPAEYRNNLENWIGDYFEKALQWVLKQN
  DYVVETSLVGTVMNGLSHLHGCRDHDEFIINLIRGLGGNLNMKSRLEFTKEVFHWARESP
  PDFHKPMDTYYDSTRGRLATYVLKKPEDLTADDFSNGLTLPVIQTPDMQRGLDYFKPWLS
  SDTKQPFILVGPEGCGKGMLLRYAFSQLRSTQIATVHCSAQTTSRHLLQKLSQTCMVIST
  NTGRVYRPKDCERLVLYLKDINLPKLDKWGTSTLVAFLQQVLTYQGFYDENLEWVGLENI
  QIVASMSAGGRLGRHKLTTRFTSIVRLCSIDYPEREQLQTIYGAYLEPVLHKNLKNHSIW
  GSSSKIYLLAGSMVQVYEQVRAKFTVDDYSHYFFTPCILTQWVLGLFRYDLEGGSSNHPL
  DYVLEIVAYEARRLFRDKIVGAKELHLFDIILTSVFQGDWGSDILDNMSDSFYVTWGARH
  NSGARAAPGQPLPPHGKPLGKLNSTDLKDVIKKGLIHYGRDNQNLDILLFHEVLEYMSRI
  DRVLSFPGGSLLLAGRSGVGRRTITSLVSHMHGAVLFSPKISRGYELKQFKNDLKHVLQL
  AGIEAQQVVLLLEDYQFVHPTFLEMINSLLSSGEVPGLYTLEELEPLLLPLKDQASQDGF
  FGPVFNYFTYRIQQNLHIVLIMDSANSNFMINCESNPALHKKCQVLWMEGWSNSSMKKIP
  EMLFSETGGGEKYNDKKRKEEKKKNSVDPDFLKSFLLIHESCKAYGATPSRYMTFLHVYS
  AISSSKKKELLKRQSHLQAGVSKLNEAKALVDELNRKAGEQSVLLKTKQDEADAALQMIT
  VSMQDASEQKTELERLKHRIAEEVVKIEERKNKIDDELKEVQPLVNEAKLAVGNIKPESL
  SEIRSLRMPPDVIRDILEGVLRLMGIFDTSWVSMKSFLAKRGVREDIATFDARNISKEIR
  ESVEELLFKNKGSFDPKNAKRASTAAAPLAAWVKANIQYSHVLERIHPLETEQAGLESNL
  KKTEDRKRKLEELLNSVGQKVSELKEKFQSRTSEAAKLEAEVSKAQETIKAAEVLINQLD
  REHKRWNAQVVEITEELATLPKRAQLAAAFITYLSAAPESLRKTCLEEWTKSAGLEKFDL
  RRFLCTESEQLIWKSEGLPSDDLSIENALVILQSRVCPFLIDPSSQATEWLKTHLKDSRL
  EVINQQDSNFITALELAVRFGKTLIIQEMDGVEPVLYPLLRRDLVAQGPRYVVQIGDKII
  DYNEEFRLFLSTRNPNPFIPPDAASIVTEVNFTTTRSGLRGQLLALTIQHEKPDLEEQKT
  KLLQQEEDKKIQLAKLEESLLETLATSQGNILENKDLIESLNQTKASSALIQESLKESYK
  LQISLDQERDAYLPLAESASKMYFIISDLSKINNMYRFSLAAFLRLFQRALQNKQDSENT
  EQRIQSLISSLQHMVYEYICRCLFKADQLMFALHFVRGMHPELFQENEWDTFTGVVVGDM
  LRKADSQQKIRDQLPSWIDQERSWAVATLKIALPSLYQTLCFEDAALWRTYYNNSMCEQE
  FPSILAKKVSLFQQILVVQALRPDRLQSAMALFACKTLGLKEVSPLPLNLKRLYKETLEI
  EPILIIISPGADPSQELQELANAERSGECYHQVAMGQGQADLAIQMLKECARNGDWLCLK
  NLHLVVSWLPVLEKELNTLQPKDTFRLWLTAEVHPNFTPILLQSSLKITYESPPGLKKNL
  MRTYESWTPEQISKKDNTHRAHALFSLAWFHAACQERRNYIPQGWTKFYEFSLSDLRAGY
  NIIDRLFDGAKDVQWEFVHGLLENAIYGGRIDNYFDLRVLQSYLKQFFNSSVIDVFNQRN
  KKSIFPYSVSLPQSCSILDYRAVIEKIPEDDKPSFFGLPANIARSSQRMISSQVISQLRI
  LGRSITAGSKFDREIWSNELSPVLNLWKKLNQNSNLIHQKVPPPNDRQGSPILSFIILEQ
  FNAIRLVQSVHQSLAALSKVIRGTTLLSSEVQKLASALLNQKCPLAWQSKWEGPEDPLQY
  LRGLVARALAIQNWVDKAEKQALLSETLDLSELFHPDTFLNALRQETARAVGRSVDSLKF
  VASWKGRLQEAKLQIKISGLLLEGCSFDGNQLSENQLDSPSVSSVLPCFMGWIPQDACGP
  YSPDECISLPVYTSAERDRVVTNIDVPCGGNQDQWIQCGAALFLKNQ

• Sequence length: 4307

Pathways

KEGG:

Phagosome
Motor proteins
Vasopressin-regulated water reabsorption
Salmonella infection

Reactome:

Hedgehog 'off' state
Intraflagellar transport

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 lung	Likely pathogenic	rs1861879186	RCV001257371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asphyxiating thoracic dystrophy 3	Pathogenic; Likely pathogenic	rs772321133, rs1485345396, rs200989423, rs1864914192, rs1249901214, rs1860716899, rs777932973, rs2134896978, rs756313208, rs1942559934, rs755464335, rs1591316134, rs1437320571, rs989023092, rs1268066804, rs2135399555, rs754944912, rs2134979684, rs2135805319, rs2134885529, rs2134994767, rs2496257055, rs1322141600, rs2496256443, rs2496509193, rs1047872625, rs794727944, rs780539887, rs1565459834, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905498, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs864622358, rs200460601, rs755883373, rs1395482031, rs754919042, rs886039812, rs1201137446, rs1859507049, rs759367270, rs755651498, rs752962611, rs1463801364, rs2496453166, rs2496973799, rs1263248887, rs2496288376, rs1866204293, rs1862623631, rs867777631, rs756008276, rs1862623916, rs2497538745, rs2496272489, rs766275230, rs980278365, rs1860669125, rs2496345285, rs1362562605, rs117178504, rs1442922319, rs2496243325, rs1408863024, rs1438015268, rs1446166328, rs376596919, rs756002632, rs1313315549, rs1865048329, rs2497158423, rs770936919, rs1445220590, rs1215030552, rs2496401211, rs2497152398, rs2497063317, rs2496802097, rs2496920213, rs771487311, rs1043384862, rs562139820, rs771003300, rs552436294, rs943680446, rs368631447, rs555339053, rs896105030, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555051720, rs745870321, rs1555052524, rs901629870, rs1555054771, rs1461272672, rs780855765, rs1555060411, rs1243999036, rs1555060940, rs1555061228, rs747348765, rs1322884865, rs1555062340, rs1555063811, rs537704873, rs1386343205, rs1350329646, rs1555064376, rs1555066796, rs200614421, rs964711006, rs1196317554, rs747857715, rs1214801816, rs371940321, rs1555068270, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1555077194, rs1218198013, rs780600124, rs1261505725, rs200710887, rs181011657, rs1555082470, rs1453448143, rs369658526, rs766816050, rs756811136, rs368654019, rs1223907858, rs759549373, rs397514637, rs431905507, rs1565317399, rs1565329461, rs767846762, rs1565359085, rs751891969, rs1565390180, rs1384888093, rs1565394086, rs1565438488, rs561778796, rs373536938, rs767206815, rs371932985, rs372878677, rs1862810311, rs1862217660, rs1223863177, rs1860730801, rs1322871899	RCV001332761 RCV005040306 RCV005050395 RCV005040333 RCV001780415 RCV001844335 RCV001728050 RCV001783168 RCV005040593 RCV001806293 RCV001808203 RCV005042538 RCV002307817 RCV002227368 RCV002240133 RCV002238702 RCV002240140 RCV002249034 RCV002249036 RCV002269813 RCV002273030 RCV002286445 RCV005042796 RCV003230297 RCV003230298 RCV003485786 RCV005049461 RCV001291407 RCV005042902 RCV000006873 RCV000006875 RCV000006877 RCV000006878 RCV000006879 RCV000006880 RCV000006881 RCV000006882 RCV000006883 RCV000006884 RCV000006885 RCV000006886 RCV000006887 RCV003330580 RCV001333710 RCV000490314 RCV003144847 RCV003454712 RCV000256416 RCV003314336 RCV003314412 RCV005047521 RCV003319575 RCV003328075 RCV003328091 RCV003340690 RCV003447809 RCV003486313 RCV005047638 RCV005047643 RCV005047640 RCV005051331 RCV005051329 RCV005051330 RCV005047676 RCV005047695 RCV005047701 RCV005051346 RCV005001400 RCV005871222 RCV005047739 RCV005863880 RCV005047743 RCV005047746 RCV005230548 RCV004701795 RCV004701805 RCV005047812 RCV005208217 RCV005040538 RCV005040565 RCV005040568 RCV005040585 RCV005040601 RCV003988753 RCV003988965 RCV003990334 RCV003990924 RCV004018024 RCV004595166 RCV000408623 RCV000502405 RCV001291287 RCV002272241 RCV001291051 RCV001253670 RCV001291158 RCV001291283 RCV001291041 RCV001291292 RCV001291052 RCV001291050 RCV001291040 RCV005049582 RCV001353119 RCV001291046 RCV005208141 RCV001291043 RCV001291393 RCV001291155 RCV000755107 RCV001291156 RCV001291402 RCV001291291 RCV001291401 RCV001291286 RCV001291406 RCV001291171 RCV001291399 RCV001291403 RCV001291177 RCV001291178 RCV001291165 RCV001291279 RCV003989547 RCV001291284 RCV001199059 RCV001291398 RCV001291394 RCV001291166 RCV001291157 RCV004701583 RCV001291289 RCV001291288 RCV001291174 RCV005049581 RCV001291172 RCV001291048 RCV001291164 RCV001291397 RCV001291395 RCV005632437 RCV001291278 RCV001291173 RCV005044765 RCV000578494 RCV001291168 RCV001291170 RCV001291405 RCV001291282 RCV001291290 RCV001291280 RCV005044799 RCV000578487 RCV000033160 RCV000033161 RCV005046915 RCV002227206 RCV005407875 RCV001784359 RCV005046990 RCV005047007 RCV000755104 RCV000755106 RCV000755108 RCV005049680 RCV005047034 RCV005047125 RCV000853583 RCV000853584 RCV001095684 RCV001199058 RCV001293394 RCV001293391 RCV001293390	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Asphyxiating thoracic dystrophy 4	Likely pathogenic; Pathogenic	rs200460601	RCV005863049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 2	Likely pathogenic; Pathogenic	rs552436294	RCV005863162	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive polycystic kidney disease	Likely pathogenic; Pathogenic	rs1261505725	RCV001328199	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs929322688, rs762578912, rs1944784722, rs1945272232	RCV001256163 RCV001256164 RCV001256162 RCV001256166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bowing of the long bones	Pathogenic	rs1057518898	RCV000415006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deformed rib cage	Likely pathogenic	rs1861879186	RCV001257371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DYNC2H1-related disorder	Likely pathogenic; Pathogenic	rs780539887, rs200460601, rs1007294927, rs2496922930, rs369196511, rs2496377313, rs2497063106, rs1858699106, rs867798254, rs765515764, rs771003300, rs552436294, rs748906528, rs753662982, rs747348765, rs776407305, rs1218198013, rs766816050, rs561778796	RCV003407669 RCV004742333 RCV003420563 RCV003397344 RCV003394350 RCV003414459 RCV003397722 RCV003420915 RCV003929329 RCV003957015 RCV003401467 RCV003401520 RCV003392346 RCV003424069 RCV003419889 RCV004742473 RCV003424068 RCV004742474 RCV004742629	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal growth restriction	Pathogenic	rs1057518898	RCV000415006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Likely pathogenic	rs1861879186	RCV001257371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Pathogenic; Likely pathogenic	rs772321133, rs921573478, rs1354433663, rs1937856263, rs778359687, rs775759098, rs2135437962, rs200989423, rs756313208, rs755464335, rs772732648, rs1389651809, rs1591316134, rs2135849050, rs750682546, rs2134908680, rs1455606327, rs2135225617, rs2134773913, rs765224364, rs1243716539, rs1437320571, rs1333438254, rs989023092, rs2135805319, rs1322141600, rs1047872625, rs2496802501, rs755338872, rs794727595, rs776315442, rs780539887, rs1565459834, rs2496279887, rs2496286836, rs1322369710, rs1322549762, rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905498, rs431905500, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs2497539228, rs1205610948, rs1007294927, rs1395482031, rs754919042, rs369196511, rs2496943337, rs1187668418, rs763317497, rs2496903018, rs2496585568, rs764720647, rs2497049476, rs1287001939, rs2496922607, rs1860732977, rs2496279393, rs2497047845, rs2496288376, rs1867604292, rs2496941500, rs2497444053, rs2496295808, rs2497062759, rs2496281483, rs2496867892, rs1340269679, rs763571787, rs1866204293, rs2496461164, rs2496767276, rs1861514878, rs2497060831, rs1862623631, rs1448805941, rs2497153382, rs867777631, rs779004079, rs1370785518, rs1238414767, rs794727944, rs1862012580, rs2497074414, rs1414601779, rs756008276, rs1862623916, rs2497097065, rs2497538745, rs2496974332, rs1219437391, rs2496272489, rs766275230, rs751621733, rs980278365, rs200710887, rs2497001200, rs2496626872, rs2496411251, rs2496881754, rs1222714681, rs2497112808, rs2497151496, rs755672814, rs1860669125, rs2496345285, rs2497087696, rs867836657, rs2497060336, rs2496281774, rs2496288415, rs1591283716, rs2496280307, rs2497444581, rs2497153111, rs1306497806, rs2497053774, rs1428945272, rs2496576481, rs2496453086, rs2496371393, rs1288124721, rs2497038573, rs1221933494, rs779706754, rs1864505636, rs1864570703, rs2496768592, rs2497538753, rs2496236257, rs1168449484, rs781299070, rs763241302, rs2496317302, rs431905507, rs1258635215, rs756567847, rs2496746746, rs2496639536, rs2496922131, rs2496799241, rs1362562605, rs117178504, rs1289864888, rs1862624167, rs1442922319, rs2496584958, rs371963928, rs2496941904, rs2496303443, rs2496318039, rs2496243325, rs2496410325, rs768951961, rs1262807447, rs2497128760, rs371940982, rs2496256527, rs2496823635, rs780243284, rs2496449422, rs1296847728, rs1858795121, rs2496903151, rs2496644540, rs572266444, rs2496234517, rs369040584, rs2496903775, rs2496662893, rs2497062855, rs1408863024, rs1938157903, rs2496509129, rs2496903379, rs1172074861, rs2497047713, rs865890773, rs1944749671, rs2497086708, rs2497063654, rs756811933, rs2497000253, rs756453245, rs2497265324, rs1438015268, rs2496645400, rs2497112470, rs2497097522, rs2496401454, rs1861877403, rs758391090, rs2496663439, rs1402847477, rs1446166328, rs2135267768, rs923787197, rs376596919, rs925675970, rs2496875947, rs1864916526, rs867798254, rs1379977343, rs1449883752, rs756002632, rs1565389359, rs1202610425, rs777277500, rs1313315549, rs940562603, rs2497544750, rs1945274080, rs2496827409, rs747358182, rs1865048329, rs2496764052, rs2497141506, rs1862062786, rs2497158423, rs1565350595, rs1311530268, rs770936919, rs1310779676, rs370490151, rs1445220590, rs1187379488, rs752449341, rs543525711, rs756087785, rs543946816, rs1043453967, rs755442994, rs1565388092, rs2496909934, rs2134885195, rs771487311, rs1043384862, rs562139820, rs771003300, rs552436294, rs943680446, rs368631447, rs1202784860, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs397514637, rs1555038664, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1291197898, rs751891969, rs1565390180, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677, rs1945272232	RCV003748338 RCV001924390 RCV005183657 RCV003748701 RCV003749614 RCV001384419 RCV001384207 RCV003748351 RCV003870211 RCV001869583 RCV001990327 RCV001991124 RCV001929460 RCV001992121 RCV001993258 RCV002037726 RCV002038297 RCV002037940 RCV001900267 RCV001967186 RCV002051361 RCV001982981 RCV002007651 RCV005095789 RCV003774707 RCV003775008 RCV003775495 RCV002596268 RCV002588536 RCV000515897 RCV003748203 RCV005089900 RCV002516822 RCV002590417 RCV002796935 RCV002856960 RCV002923502 RCV002962331 RCV003586122 RCV003586123 RCV001851709 RCV000515877 RCV002512856 RCV000754947 RCV001851710 RCV000204107 RCV000206518 RCV000799119 RCV002517442 RCV003765453 RCV002810034 RCV003778667 RCV003778692 RCV003778834 RCV000228263 RCV003586418 RCV003586452 RCV003586536 RCV003586604 RCV003586605 RCV003586609 RCV003586532 RCV003586533 RCV003586567 RCV003586474 RCV003586547 RCV003586667 RCV003586623 RCV003586627 RCV003586652 RCV003586700 RCV003586776 RCV003586814 RCV003586893 RCV003586933 RCV003586737 RCV003586920 RCV003586735 RCV003586758 RCV003586802 RCV003586720 RCV003586723 RCV003586725 RCV003586728 RCV003586786 RCV003586789 RCV003587205 RCV003587259 RCV003587018 RCV003587068 RCV003587155 RCV003587202 RCV003587328 RCV003587330 RCV003587096 RCV003587168 RCV003587347 RCV003587382 RCV003587412 RCV003587413 RCV003587466 RCV003587585 RCV003587594 RCV003587596 RCV003587678 RCV003587766 RCV003587900 RCV003587758 RCV003587759 RCV003587790 RCV003587693 RCV003587723 RCV003587886 RCV003587654 RCV003587687 RCV003587770 RCV003587870 RCV003587875 RCV003587879 RCV003587998 RCV003587999 RCV003588025 RCV003588052 RCV003588016 RCV003587971 RCV003587970 RCV003588029 RCV003588056 RCV003588063 RCV003586586 RCV003586588 RCV003586589 RCV003748540 RCV003748636 RCV003748629 RCV003748548 RCV003748568 RCV003748522 RCV003748525 RCV003748562 RCV003748653 RCV003749173 RCV003749169 RCV003749193 RCV003749194 RCV003749296 RCV003749301 RCV003749288 RCV003749322 RCV003749202 RCV003749336 RCV003749422 RCV003749365 RCV003749367 RCV003749369 RCV003749510 RCV003749407 RCV003749430 RCV003749900 RCV003749558 RCV003749581 RCV003749585 RCV003749821 RCV003749888 RCV003749810 RCV003749931 RCV003749958 RCV003750019 RCV003750072 RCV003750079 RCV003750139 RCV003749954 RCV003749987 RCV003750011 RCV003750032 RCV003750036 RCV003750063 RCV003749972 RCV003750051 RCV003750055 RCV003750270 RCV003750271 RCV003747705 RCV003750279 RCV003750285 RCV003747759 RCV003747763 RCV003747715 RCV003747785 RCV003747803 RCV003747889 RCV003747892 RCV003747968 RCV003747848 RCV003747869 RCV003747978 RCV003747980 RCV003747840 RCV003747861 RCV003747893 RCV003747900 RCV003748086 RCV003748165 RCV003748667 RCV003748725 RCV003748744 RCV003748769 RCV003748676 RCV003748815 RCV003748834 RCV003748858 RCV003748888 RCV003748996 RCV003748990 RCV003749731 RCV003749674 RCV003749677 RCV003749785 RCV003816287 RCV003814453 RCV003822917 RCV003827993 RCV003828814 RCV003824602 RCV003835197 RCV003848025 RCV003846774 RCV003852829 RCV003844152 RCV003847130 RCV003855353 RCV003863630 RCV003868212 RCV003866532 RCV003853686 RCV003878160 RCV003874534 RCV003882076 RCV003873604 RCV003871781 RCV003879985 RCV003881607 RCV003878070 RCV003874982 RCV003875061 RCV003877232 RCV004594022 RCV000515875 RCV003766152 RCV000459333 RCV000470853 RCV000515935 RCV002526956 RCV000984619 RCV003766877 RCV003586192 RCV000516133 RCV003586191 RCV001851415 RCV000516108 RCV000516025 RCV003766902 RCV000516041 RCV000516111 RCV003748238 RCV000515990 RCV000515999 RCV001857883 RCV000516125 RCV003748244 RCV000516112 RCV003766901 RCV000515862 RCV000515866 RCV000515929 RCV000516127 RCV000516124 RCV000754936 RCV003748237 RCV000515965 RCV000515993 RCV000516047 RCV000515910 RCV003748243 RCV000515825 RCV000516089 RCV000516139 RCV000516003 RCV001851416 RCV003748240 RCV000516136 RCV002527447 RCV000515961 RCV001857880 RCV001857881 RCV000515818 RCV000516008 RCV000532727 RCV000516021 RCV000515881 RCV003748241 RCV003748242 RCV000515988 RCV000536512 RCV000559551 RCV003586194 RCV000823429 RCV000515863 RCV003764653 RCV000634182 RCV000754941 RCV000754943 RCV000754942 RCV000754948 RCV000754939 RCV000754950 RCV000696242 RCV000687230 RCV000704413 RCV003586215 RCV001206692 RCV003768203 RCV001855821 RCV003748274 RCV003748280 RCV003748281 RCV003586218 RCV000984618 RCV000821329 RCV003768565 RCV005092534 RCV003586291	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Narrow chest	Pathogenic	rs1057518898	RCV000415006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal respiratory distress	Likely pathogenic	rs1485345396	RCV001526645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs200460601	RCV004816358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs200460601	RCV005863049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short long bone	Likely pathogenic	rs1861879186	RCV001257371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short rib-polydactyly syndrome	Likely pathogenic; Pathogenic	rs767206815	RCV000826103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short ribs	Likely pathogenic	rs1861879186	RCV001257371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs771487311, rs1261505725	RCV000516064 RCV000516017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxiating thoracic dystrophy 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxiating thoracic dystrophy 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOWED LONG BONES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JEUNE SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cyst	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALDINO-NOONAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, MAJEWSKI TYPE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, SALDINO-NOONAN TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type IV short rib polydactyly syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asphyxiating Thoracic Dystrophy 1	Asphyxiating Thoracic Dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23339108, 24140113		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	35893076	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	31043156	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	33369054	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	19361615	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	21211617, 24140113, 24183451, 28257607, 30429209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	21211617, 33369054, 33875766, 35764379, 35893076, 36442996, 36599940, 38062428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital duplication of uterus	Congenital Duplication Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	31943948	Associate	★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	Pubtator	35277174	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	37413951	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ellis Van Creveld Syndrome	Ellis-van creveld syndrome	Pubtator	36599940	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	26147384		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31347685		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31347685		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16320026		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37165897	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	27925158	Associate	★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune syndrome	Pubtator	19442771, 23456818, 27925158, 31935347, 32753734, 35893076, 36599940	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune syndrome	Jeune Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	19442771, 23456818, 24140113, 26874042, 27925158, 28257607, 30429209		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG	19442771, 22499340, 23339108, 23456818, 27925158, 29068549		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	23339108, 23456818		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	40770708	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	32753734	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33369054	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35277174	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	BEFREE	24140113		★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	ORPHANET_DG	21211617, 22499340, 22791528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CTD_human_DG	22499340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28703793		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26826164		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	26147384		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	26147384		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28703793		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31730820		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	22499340, 23456818, 24961629		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	29458881		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	35277174	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	36442996	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	31730820		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	32753734	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32753734	Associate	★☆☆☆☆ Found in Text Mining only
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	GENOMICS_ENGLAND_DG	19361615, 21211617, 29458881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	UNIPROT_DG	19361615, 19442771, 22499340, 23456818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CLINVAR_DG	19442771, 26938784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG	22499340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	ORPHANET_DG	27925158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	BEFREE	29458881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	BEFREE	19361615, 29359448		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG	22499340		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short rib-polydactyly syndrome, Majewski type	Short Rib-Polydactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Saldino-Noonan type	Short Rib-Polydactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	BEFREE	19442771, 25410398, 25982780, 27323140, 29458881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	ORPHANET_DG	19442771, 22791528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	22102620		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	35277174	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	Pubtator	35277174	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	36442996	Associate	★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only