KIF7 (kinesin family member 7)

Gene

• Entrez ID: 374654
• Gene name: Kinesin family member 7
• Gene symbol: KIF7
• Synonyms (NCBI Gene): ACLS, AGBK, HLS2, JBTS12, MMEDF, UNQ340
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH path

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79532879	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs138196132	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs138410949	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs138764398	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs138993311	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141097070	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141514601	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142488318	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs143877028	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144929293	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148749994	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151317163	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199959946	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs202229910	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs387907044	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs387907045	G>A	Pathogenic	Coding sequence variant, stop gained
rs398124613	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs569323391	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587780375	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752248403	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs758361736	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs774403667	G>C	Pathogenic	Intron variant
rs776233268	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs778139192	G>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs781752990	A>C	Pathogenic	Splice donor variant
rs794727316	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs794727530	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797044463	->A	Pathogenic	Frameshift variant, coding sequence variant
rs797044464	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044465	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044466	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045093	C>A	Pathogenic	Coding sequence variant, stop gained
rs886039282	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041531	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691958	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1235928535	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555423120	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555423165	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555424505	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555424684	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555425036	ATGTAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567057019	C>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs1567060070	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023103	hsa-miR-124-3p	Microarray	18668037
MIRT038214	hsa-miR-342-5p	CLASH	23622248
MIRT1095131	hsa-miR-1245b-3p	CLIP-seq
MIRT1095132	hsa-miR-1254	CLIP-seq
MIRT1095133	hsa-miR-1288	CLIP-seq
MIRT1095134	hsa-miR-1290	CLIP-seq
MIRT1095135	hsa-miR-147b	CLIP-seq
MIRT1095136	hsa-miR-2861	CLIP-seq
MIRT1095137	hsa-miR-2909	CLIP-seq
MIRT1095138	hsa-miR-3116	CLIP-seq
MIRT1095139	hsa-miR-3167	CLIP-seq
MIRT1095140	hsa-miR-3169	CLIP-seq
MIRT1095141	hsa-miR-3616-3p	CLIP-seq
MIRT1095142	hsa-miR-4455	CLIP-seq
MIRT1095143	hsa-miR-4512	CLIP-seq
MIRT1095144	hsa-miR-4721	CLIP-seq
MIRT1095145	hsa-miR-640	CLIP-seq
MIRT1095146	hsa-miR-653	CLIP-seq
MIRT1095147	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003777	Function	Microtubule motor activity	IBA
GO:0003777	Function	Microtubule motor activity	IDA	21633164
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005515	Function	Protein binding	IPI	19592253, 21633164, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005929	Component	Cilium	IDA	19592253
GO:0005929	Component	Cilium	IEA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0097542	Component	Ciliary tip	TAS

Other IDs

• MIM: 611254
• HGNC: 30497
• e!Ensembl: ENSG00000166813

Protein

• UniProt ID: Q2M1P5
• Protein name: Kinesin-like protein KIF7
• Protein function: Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:216
• PDB: 2XT3, 4A14, 6MLQ, 6MLR, 7RX0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00225	Kinesin	21 → 349	Kinesin motor domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver, kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus. {ECO:0000269|PubMed:21633164}.
• Sequence:

  MGLEAQRLPGAEEAPVRVALRVRPLLPKELLHGHQSCLQVEPGLGRVTLGRDRHFGFHVV
  LAEDAGQEAVYQACVQPLLEAFFEGFNATVFAYGQTGSGKTYTMGEASVASLLEDEQGIV
  PRAMAEAFKLIDENDLLDCLVHVSYLEVYKEEFRDLLEVGTASRDIQLREDERGNVVLCG
  VKEVDVEGLDEVLSLLEMGNAARHTGATHLNHLSSRSHTVFTVTLEQRGRAPSRLPRPAP
  GQLLVSKFHFVDLAGSERVLKTGSTGERLKESIQINSSLLALGNVISALGDPQRRGSHIP
  YRDSKITRILKDSLGGNAKTVMIACVSPSSSDFDETLNTLNYASRAQNIRNRATVNWRPE
  AERPPEETASGARGPPRHRSETRIIHRGRRAPGPATASAAAAMRLGAECARYRACTDAAY
  SLLRELQAEPGLPGAAARKVRDWLCAVEGERSALSSASGPDSGIESASVEDQAAQGAGGR
  KEDEGAQQLLTLQNQVARLEEENRDFLAALEDAMEQYKLQSDRLREQQEEMVELRLRLEL
  VRPGWGGPRLLNGLPPGSFVPRPHTAPLGGAHAHVLGMVPPACLPGDEVGSEQRGEQVTN
  GREAGAELLTEVNRLGSGSSAASEEEEEEEEPPRRTLHLRRNRISNCSQRAGARPGSLPE
  RKGPELCLEELDAAIPGSRAVGGSKARVQARQVPPATASEWRLAQAQQKIRELAINIRMK
  EELIGELVRTGKAAQALNRQHSQRIRELEQEAEQVRAELSEGQRQLRELEGKELQDAGER
  SRLQEFRRRVAAAQSQVQVLKEKKQATERLVSLSAQSEKRLQELERNVQLMRQQQGQLQR
  RLREETEQKRRLEAEMSKRQHRVKELELKHEQQQKILKIKTEEIAAFQRKRRSGSNGSVV
  SLEQQQKIEEQKKWLDQEMEKVLQQRRALEELGEELHKREAILAKKEALMQEKTGLESKR
  LRSSQALNEDIVRVSSRLEHLEKELSEKSGQLRQGSAQSQQQIRGEIDSLRQEKDSLLKQ
  RLEIDGKLRQGSLLSPEEERTLFQLDEAIEALDAAIEYKNEAITCRQRVLRASASLLSQC
  EMNLMAKLSYLSSSETRALLCKYFDKVVTLREEQHQQQIAFSELEMQLEEQQRLVYWLEV
  ALERQRLEMDRQLTLQQKEHEQNMQLLLQQSRDHLGEGLADSRRQYEARIQALEKELGRY
  MWINQELKQKLGGVNAVGHSRGGEKRSLCSEGRQAPGNEDELHLAPELLWLSPLTEGAPR
  TREETRDLVHAPLPLTWKRSSLCGEEQGSPEELRQREAAEPLVGRVLPVGEAGLPWNFGP
  LSKPRRELRRASPGMIDVRKNPL

• Sequence length: 1343

Pathways

KEGG:

Hedgehog signaling pathway
Motor proteins
Pathways in cancer
Basal cell carcinoma

Reactome:

Hedgehog 'off' state
Hedgehog 'on' state

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
Acrocallosal syndrome	Pathogenic; Likely pathogenic	rs1963620354, rs2142028862, rs1963646325, rs751900799, rs1391614221, rs1567067864, rs138736028, rs763238645, rs772716663, rs1236798408, rs771463286, rs762662896, rs1345505035, rs1250146203, rs1424230161, rs1253153154, rs767550455, rs794727316, rs372338933, rs1369825523, rs2505438655, rs138196132, rs2505494071, rs2505419625, rs797045093, rs746915003, rs2505498070, rs2505495311, rs989653101, rs778139192, rs202229910, rs1324022945, rs145324453, rs2505419657, rs760348444, rs1160753200, rs886041531, rs527766106, rs2505483025, rs2505415311, rs2505490478, rs1444012324, rs1204832680, rs1379956683, rs752248403, rs387907044, rs387907045, rs797044463, rs797044464, rs1555425036, rs774403667, rs1555424505, rs1555424684, rs1555423165, rs569323391, rs781752990, rs1567057019, rs1235928535, rs1963937785, rs1964065704	RCV005094474 RCV005005967 RCV005005997 RCV002540270 RCV001885186 RCV003514524 RCV002542369 RCV001885300 RCV001919364 RCV001884256 RCV001946770 RCV001962875 RCV001929230 RCV001941524 RCV001996002 RCV001921837 RCV003078262 RCV001852164 RCV002647779 RCV002574857 RCV002575376 RCV002705785 RCV002716364 RCV002797358 RCV000190601 RCV002834702 RCV002830173 RCV002835385 RCV002909384 RCV000201533 RCV000201660 RCV003042258 RCV003024631 RCV003057331 RCV005932401 RCV003147948 RCV003629110 RCV003326720 RCV003515422 RCV003514728 RCV003630321 RCV003630508 RCV003629901 RCV003882555 RCV000023881 RCV000023882 RCV000023883 RCV000023884 RCV000023885 RCV000604111 RCV000616302 RCV000610998 RCV000604949 RCV001381328 RCV000537774 RCV001377834 RCV000689448 RCV000714581 RCV001175213 RCV002493461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrolethalus syndrome 2	Likely pathogenic; Pathogenic	rs2142028862, rs1963646325, rs751900799, rs763238645, rs762662896, rs1253153154, rs794727316, rs989653101, rs1379956683, rs752248403, rs781752990, rs1235928535, rs1964065704	RCV005005967 RCV005005997 RCV005006016 RCV001814725 RCV005006319 RCV005006143 RCV005016520 RCV005019458 RCV005015077 RCV000023880 RCV005010593 RCV005021117 RCV002493461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 12	Pathogenic	rs797044465, rs797044466	RCV000023886 RCV000023887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 12/15, DIGENIC	Pathogenic	rs797044466	RCV000023888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KIF7-related disorder	Likely pathogenic; Pathogenic	rs762662896, rs797045093, rs778139192, rs2505502773, rs770571299, rs2505499561, rs774403667, rs781752990	RCV004744178 RCV004742322 RCV005863042 RCV003416915 RCV003399596 RCV003404571 RCV005863168 RCV004742537	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple epiphyseal dysplasia, Al-Gazali type	Likely pathogenic; Pathogenic	rs2142028862, rs1963646325, rs751900799, rs762662896, rs1253153154, rs794727316, rs989653101, rs886039282, rs1379956683, rs752248403, rs781752990, rs1235928535, rs1964065704	RCV005005967 RCV005005997 RCV005006016 RCV005006319 RCV005006143 RCV005016520 RCV005019458 RCV000254711 RCV005015077 RCV001849281 RCV005010593 RCV000714582 RCV002493461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2505426700	RCV001256991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARDET-BIEDL SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROLETHALUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrolethalus syndrome	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROLETHALUS SYNDROME 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Joubert syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIF7-related ciliopathy spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility due to gonadal dysgenesis or sperm disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO TESTICULAR DYSGENESIS OR SPERM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 6	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY AFFECTING THE 5TH TOE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, isolated, susceptibility to, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short-limb skeletal dysplasia with severe combined immunodeficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocallosal Syndrome	Acrocallosal Syndrome	CLINVAR_DG	19666503, 21552264, 21633164, 26092869, 26648833, 29321670		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal Syndrome	Acrocallosal Syndrome	BEFREE	21552264, 22587682, 23125460, 23142271, 26174511, 29321670, 30445565, 31399769		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal Syndrome	Acrocallosal Syndrome	CTD_human_DG	21552264		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal Syndrome	Acrocallosal Syndrome	ORPHANET_DG	21552264, 23142271		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal Syndrome	Acrocallosal Syndrome	UNIPROT_DG	21552264, 21633164, 23125460, 26174511		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal Syndrome	Acrocallosal Syndrome	GENOMICS_ENGLAND_DG	21552264, 21633164, 21937992		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal syndrome	Acrocallosal Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal Syndrome	Acrocallosal syndrome	Pubtator	22281744, 22587682, 31399769	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocallosal syndrome, Schinzel type	Acrocallosal Syndrome	ORPHANET_DG	21552264, 23142271		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	26174511		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	UNIPROT_DG	21552264		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	31399769	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21552264	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31658044	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31658044		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	25265279		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	21552264, 23142271, 29321670, 30445565		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21552264, 28596487	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	21552264	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	23125460		★☆☆☆☆ Found in Text Mining only
Congenital atresia of trachea	Congenital Atresia Of Trachea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	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
Degenerative polyarthritis	Arthritis	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
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	14738752, 21552264, 21633164, 22587682, 23125460, 25714560, 7424976, 9066878		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31658044		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	21633164, 22587682, 24339784, 29321670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	21633164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	15547730		★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	25265279		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	25265279	Associate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	25265279		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28444310		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	25265279	Inhibit	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrolethalus	Hydrolethalus Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrolethalus syndrome	Hydrolethalus Syndrome	ORPHANET_DG	21552264		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrolethalus syndrome	Hydrolethalus Syndrome	CTD_human_DG	21552264		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrolethalus syndrome	Hydrolethalus syndrome	Pubtator	21552264, 22281744, 22587682	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROLETHALUS SYNDROME 1	Hydrolethalus Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrolethalus Syndrome 2	Hydrolethalus Syndrome	GENOMICS_ENGLAND_DG	21552264		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrolethalus Syndrome 2	Hydrolethalus Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertensive disease	Hypertension	BEFREE	17909393		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	27218255		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27218255	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JOUBERT SYNDROME 12	Joubert syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 12/15, DIGENIC	Joubert syndrome, Digenic	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32945133	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	22587682		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies	UNIPROT_DG	22587682		★☆☆☆☆ Found in Text Mining only
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies	ORPHANET_DG	22587682		★☆☆☆☆ Found in Text Mining only
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28903364		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15547730		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29053987		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	27218255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	14738752, 21552264, 21633164, 22587682, 23125460, 25714560, 7424976, 9066878		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	22587682		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple epiphyseal dysplasia, Al-Gazali type	Multiple Epiphyseal Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	BEFREE	28903364		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31658044		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome type 6	Orofaciodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	ORPHANET_DG	21633164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	22587682	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	21552264, 30445565		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	21552264	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28903364		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28903364		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 2 (disorder)	Retinitis Pigmentosa	BEFREE	28444310		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Submucous cleft of hard palate	Submucosal cleft palate	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
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulnar polydactyly of fingers	Postaxial hand polydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	21552264		★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	BEFREE	30806091		★☆☆☆☆ Found in Text Mining only