MKKS (MKKS centrosomal shuttling protein)

Gene

• Entrez ID: 8195
• Gene name: MKKS centrosomal shuttling protein
• Gene symbol: MKKS
• Synonyms (NCBI Gene): BBS6, HMCS, KMS, MKS
• Chromosome: 20
• Chromosome location: 20p12.2
• Summary: This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937875	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs74315394	C>A	Benign-likely-benign, uncertain-significance, likely-benign, pathogenic	Coding sequence variant, missense variant, intron variant
rs74315396	T>A,C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs74315397	A>C,G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, intron variant
rs74315398	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, intron variant
rs74315399	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs113032343	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs113994195	ACTACTAAAGT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs113994196	->CAGG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs137853154	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs137853156	T>G	Risk-factor	Coding sequence variant, missense variant, intron variant
rs201785599	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs281797258	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs281797259	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777827	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs753338844	G>C	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs762222223	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs762613490	CT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs764382536	CT>-	Pathogenic	Intron variant, coding sequence variant, stop gained
rs770908659	AG>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs776004321	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516054	A>C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793714	GG>TT	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1270369106	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1297985227	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1306231185	->TTCA	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1396840386	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1421664374	CC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555801973	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555802009	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1568662687	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568666460	A>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1600849412	->TGAG	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT619614	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT619613	hsa-miR-140-3p	HITS-CLIP	23824327
MIRT619612	hsa-miR-4469	HITS-CLIP	23824327
MIRT619611	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT619610	hsa-miR-4287	HITS-CLIP	23824327
MIRT619609	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT619608	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT619607	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT619606	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT619605	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619604	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT619603	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT619602	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT619601	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT619600	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT529461	hsa-miR-4694-3p	PAR-CLIP	22012620
MIRT529460	hsa-miR-224-3p	PAR-CLIP	22012620
MIRT529459	hsa-miR-522-3p	PAR-CLIP	22012620
MIRT529458	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT529457	hsa-miR-221-3p	PAR-CLIP	22012620
MIRT529456	hsa-miR-222-3p	PAR-CLIP	22012620
MIRT529455	hsa-miR-6828-5p	PAR-CLIP	22012620
MIRT529454	hsa-miR-671-5p	PAR-CLIP	22012620
MIRT529453	hsa-miR-6079	PAR-CLIP	22012620
MIRT619614	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT619613	hsa-miR-140-3p	HITS-CLIP	23824327
MIRT619612	hsa-miR-4469	HITS-CLIP	23824327
MIRT619611	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT619610	hsa-miR-4287	HITS-CLIP	23824327
MIRT619609	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT619608	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT619607	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT619606	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT619605	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619604	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT619603	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT619602	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT619601	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT619600	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT529461	hsa-miR-4694-3p	PAR-CLIP	22012620
MIRT529460	hsa-miR-224-3p	PAR-CLIP	22012620
MIRT529459	hsa-miR-522-3p	PAR-CLIP	22012620
MIRT529458	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT529457	hsa-miR-221-3p	PAR-CLIP	22012620
MIRT529456	hsa-miR-222-3p	PAR-CLIP	22012620
MIRT529455	hsa-miR-6828-5p	PAR-CLIP	22012620
MIRT529454	hsa-miR-671-5p	PAR-CLIP	22012620
MIRT529453	hsa-miR-6079	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0005515	Function	Protein binding	IPI	16327777, 18762586, 20080638, 22446187, 22500027, 26900326, 28514442, 28753627, 32296183, 33144677, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28753627
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28753627
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	TAS	10802661
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007507	Process	Heart development	TAS	10802661
GO:0007601	Process	Visual perception	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	ISS
GO:0008406	Process	Gonad development	TAS	10802661
GO:0010467	Process	Gene expression	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014824	Process	Artery smooth muscle contraction	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021756	Process	Striatum development	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030837	Process	Negative regulation of actin filament polymerization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0032402	Process	Melanosome transport	ISS
GO:0032502	Process	Developmental process	IBA
GO:0033210	Process	Leptin-mediated signaling pathway	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	IEA
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0044321	Process	Response to leptin	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0046907	Process	Intracellular transport	IBA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048854	Process	Brain morphogenesis	ISS
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	10802661
GO:0051131	Process	Chaperone-mediated protein complex assembly	IBA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051492	Process	Regulation of stress fiber assembly	IEA
GO:0051877	Process	Pigment granule aggregation in cell center	ISS
GO:0060027	Process	Convergent extension involved in gastrulation	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	28753627
GO:0060271	Process	Cilium assembly	ISS
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	ISS
GO:0060324	Process	Face development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1902140	Process	Response to inositol	IEA
GO:1902636	Component	Kinociliary basal body	IBA
GO:1902636	Component	Kinociliary basal body	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 604896
• HGNC: 7108
• e!Ensembl: ENSG00000125863

Protein

• UniProt ID: Q9NPJ1
• Protein name: Molecular chaperone MKKS (Bardet-Biedl syndrome 6 protein) (McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin)
• Protein function: Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Ma
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00118	Cpn60_TCP1	29 → 570	TCP-1/cpn60 chaperonin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues.
• Sequence:

  MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQS
  SALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLN
  KHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILR
  AFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
  VALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPS
  LKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHF
  FHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAY
  IRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
  QADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLD
  CLTAKLSGLQVAVETANLILDLSYVIEDKN

• Sequence length: 570

Pathways

Reactome:

BBSome-mediated cargo-targeting to cilium

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
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs779116830, rs754066841, rs753180214, rs2122220131, rs2122223967, rs201183584, rs2122234051, rs2122234652, rs2122226112, rs2122220042, rs2122236167, rs2122236468, rs2064904675, rs2122233990, rs2064897670, rs2122234387, rs2122235619, rs746888009, rs1201949741, rs2064851971, rs2514490367, rs281797258, rs74315396, rs1421664374, rs28937875, rs587777827, rs74315399, rs2514497554, rs751923973, rs2514490284, rs2514490293, rs2514497550, rs1171514864, rs2064897275, rs1398715312, rs777446581, rs2514495504, rs2514498517, rs2514498304, rs2514487000, rs2064905664, rs762258242, rs2514489097, rs2514497043, rs113994195, rs113994196, rs770908659, rs753338844, rs1568662687, rs1306231185, rs74315397, rs1568666460, rs755716827, rs776004321, rs1600849412, rs867346158, rs1225932577, rs1224308508, rs1334961999, rs758356262, rs756259125	RCV001376919 RCV001387721 RCV002032678 RCV001950247 RCV001953715 RCV001976420 RCV001915833 RCV001909930 RCV002014756 RCV002016901 RCV001942343 RCV001958602 RCV001956121 RCV001883881 RCV001940848 RCV001982150 RCV001910067 RCV003774985 RCV003069923 RCV003072068 RCV003105164 RCV001865699 RCV000824067 RCV003764529 RCV001851674 RCV005222669 RCV001376920 RCV002867480 RCV002938522 RCV003033179 RCV005216081 RCV005216116 RCV003779055 RCV003779056 RCV003779057 RCV003779214 RCV003486528 RCV003785881 RCV003783739 RCV003785280 RCV003785359 RCV003781266 RCV003789234 RCV003803603 RCV003813503 RCV000020860 RCV000020862 RCV001855332 RCV003222088 RCV000735911 RCV000735910 RCV000735914 RCV000735913 RCV003768430 RCV001384028 RCV000795896 RCV001209091 RCV001233877 RCV001231414 RCV001247809 RCV001245839 RCV003770393	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 2/6, DIGENIC	Pathogenic	rs137853154, rs281797259	RCV000005643 RCV000005644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 6	Likely pathogenic; Pathogenic	rs779116830, rs754066841, rs200633158, rs753180214, rs2122234051, rs2064904675, rs2064897670, rs2122235362, rs746888009, rs1201949741, rs281797258, rs74315396, rs28937875, rs74315397, rs587777827, rs74315399, rs751923973, rs2514496360, rs2514497550, rs1463587370, rs1171514864, rs2514495501, rs372096815, rs2064897275, rs1398715312, rs2064836017, rs2514497703, rs2514498287, rs2514486998, rs2514496343, rs771934394, rs2514496958, rs910468710, rs777446581, rs762258242, rs2514497482, rs2514489090, rs2514486985, rs2064902750, rs2514495508, rs2122219766, rs2514495654, rs2514497096, rs2514486688, rs2514487125, rs2514495642, rs1555801973, rs1555802009, rs753338844, rs776004321, rs759131391, rs867346158, rs1225932577, rs1334961999, rs758356262, rs142394051, rs756259125	RCV003473898 RCV002488209 RCV001535897 RCV003474014 RCV004571583 RCV003475243 RCV003471075 RCV002244221 RCV002294547 RCV003475506 RCV003476316 RCV000005634 RCV000005636 RCV000005637 RCV000005638 RCV000005641 RCV003475455 RCV003470112 RCV003470114 RCV003476466 RCV003476467 RCV003476468 RCV003476469 RCV003476470 RCV003476471 RCV003476472 RCV003476473 RCV003476474 RCV003476475 RCV003476476 RCV003476477 RCV003476478 RCV003476479 RCV003476480 RCV005036831 RCV004573311 RCV004574857 RCV004574858 RCV004574859 RCV004574860 RCV004574861 RCV004574862 RCV004574863 RCV004574864 RCV004574865 RCV004584263 RCV004586463 RCV003471976 RCV000625538 RCV000664042 RCV003472255 RCV003472324 RCV003473702 RCV002484130 RCV004570586 RCV003469478 RCV003473830 RCV002486011 RCV002504383	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McKusick-Kaufman syndrome	Likely pathogenic; Pathogenic	rs779116830, rs754066841, rs200633158, rs753180214, rs2122220131, rs2122223967, rs201183584, rs2122234051, rs2122234652, rs2122226112, rs2122220042, rs2122236167, rs2122236468, rs2064904675, rs2122233990, rs2064897670, rs2122234387, rs2122235619, rs2122235362, rs746888009, rs1201949741, rs2064851971, rs2514490367, rs281797258, rs74315396, rs1421664374, rs28937875, rs587777827, rs74315399, rs2514497554, rs751923973, rs2514490284, rs2514490293, rs2514497550, rs1171514864, rs2064897275, rs1398715312, rs777446581, rs2514495504, rs2514498517, rs2514498304, rs2514487000, rs2064905664, rs762258242, rs2514489097, rs2514497043, rs2514486401, rs2514497096, rs1057516054, rs770908659, rs1306231185, rs755716827, rs776004321, rs1600849412, rs764382536, rs762222223, rs867346158, rs1225932577, rs1224308508, rs1334961999, rs758356262, rs142394051, rs756259125	RCV001376919 RCV001387721 RCV001535897 RCV002032678 RCV001950247 RCV001953715 RCV001976420 RCV001915833 RCV001909930 RCV002014756 RCV002016901 RCV001942343 RCV001958602 RCV001956121 RCV001883881 RCV001940848 RCV001982150 RCV001910067 RCV002502052 RCV003774985 RCV003069923 RCV003072068 RCV003105164 RCV001865699 RCV000005633 RCV000005635 RCV001851674 RCV005222669 RCV000990288 RCV002867480 RCV002938522 RCV003033179 RCV005216081 RCV005216116 RCV005036813 RCV003779056 RCV003779057 RCV003779214 RCV005216132 RCV003785881 RCV003783739 RCV003785280 RCV003785359 RCV003781266 RCV003789234 RCV003803603 RCV003813503 RCV003988777 RCV005023582 RCV000408846 RCV001855332 RCV003768093 RCV003768430 RCV001384028 RCV000795896 RCV000990286 RCV000990287 RCV001209091 RCV001233877 RCV001231414 RCV001247809 RCV001245839 RCV002486011 RCV002504383	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MKKS-related ciliopathy	Likely pathogenic; Pathogenic	rs74315396	RCV006249549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MKKS-related disorder	Pathogenic; Likely pathogenic	rs2064851971, rs74315396, rs2514490293, rs777446581, rs2514490385, rs113994196, rs776004321, rs867346158, rs758356262, rs142394051	RCV004736260 RCV004532292 RCV004539001 RCV004736340 RCV004534660 RCV004724752 RCV004527814 RCV004734047 RCV004538518 RCV004545160	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multicystic kidney dysplasia	Likely pathogenic; Pathogenic	rs770908659	RCV000626948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs74315396, rs2064903228	RCV001328206 RCV001328207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Likely pathogenic; Pathogenic	rs770908659	RCV000626948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Pathogenic	rs1306231185	RCV000787851	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs753180214, rs74315396, rs776004321, rs2064852005, rs759131391	RCV004815602 RCV001075509 RCV004818006 RCV001074020 RCV001074205	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndromic inherited retinal disease	Likely pathogenic; Pathogenic	rs74315396	RCV005417416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs755716827	RCV005897386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 1, modifier of	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alstrom Syndrome	Alstrom Syndrome	BEFREE	20472660		★☆☆☆☆ Found in Text Mining only
Anorectal atresia	Imperforate anus	BEFREE	23127126		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	BEFREE	17558409		★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	10802661, 10973238, 18094050, 20498079, 30614526		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	10973238, 10973251, 11179009, 12016587, 12107442, 12524598, 12567324, 12837689, 12872256, 15266619, 15483080, 15772095, 16104012, 18094050, 20472660, 22446187, 26900326, 26968886, 28824921, 30312873		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	18094050		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	10802661		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG	28761321		★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 6	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	10802661		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 6	Bardet-Biedl Syndrome	UNIPROT_DG	10973238, 10973251, 11179009, 11567139, 12107442, 12677556, 12920096, 15666242, 15731008, 15770229, 18094050, 20080638, 21344540, 22152675, 26900326, 28753627, 28761321		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 6	Bardet-Biedl Syndrome	BEFREE	16104012		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 6	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 6	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19034969	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	17558409, 22446182, 22446187, 31506453		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	37015875	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	2479409		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	12118255, 20472660, 28753627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	10802661, 28753627		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10802661		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21257989	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	16227101		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15772095		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15772095		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	17003356		★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	17558409		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrometrocolpos	Hydrometrocolpos	BEFREE	10802661, 12118255, 15266619		★☆☆☆☆ Found in Text Mining only
Hydrometrocolpos	Hydrometrocolpos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15772095		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias, balanic	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17409435, 25672400, 28480154		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	12561059, 16227101		★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	BEFREE	10802661, 10973251, 12107442, 12118255, 15155861, 15266619, 21044901, 23671934, 28753627		★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	UNIPROT_DG	10802661, 28753627		★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	CLINVAR_DG	10802661, 18094050, 20498079		★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	GENOMICS_ENGLAND_DG	10802661, 10973238, 10973251		★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17558409		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20876674	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28280367, 29654211		★☆☆☆☆ Found in Text Mining only
McKusick-Kaufman syndrome	McKusick-Kaufman Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome type 1	Meckel Syndrome	BEFREE	15112103, 15772095, 21462283, 21493627, 23349226, 26729329, 26982032, 30851085		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17003356, 18813213, 19247371		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17823926, 22445357, 2479409, 27430430, 28280367, 29654211, 31413916, 31693515		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28073847, 31693515		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	21565611, 26982032		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	12837689, 16104012, 20472660, 28824921		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10973251, 15483080, 15772095, 17003356, 18813213, 23127126		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20054173, 23127126	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	17003356		★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	11302742		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	2479409		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	BEFREE	12118255, 21044901, 26900326		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	26900326	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	10802661		★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cone dystrophy (without rod involvement)	Progressive Cone Dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Diseases	Retinal detachment	Pubtator	31877759	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26900326		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26900326	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8100822		★☆☆☆☆ Found in Text Mining only
RHYNS syndrome	Rhyns syndrome	Pubtator	26900326	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	15266619		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	11302742		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11179009		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesicovaginal Fistula	Vesicovaginal Fistula	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthinuria, Type I	Xanthinuria	BEFREE	11302742		★☆☆☆☆ Found in Text Mining only
Xanthinuria, Type II	Xanthinuria	BEFREE	11302742		★☆☆☆☆ Found in Text Mining only