Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	60529
Gene name	ALX homeobox 4
Gene symbol	ALX4
Synonyms (NCBI Gene)	CRS5FND2
Chromosome	11
Chromosome location	11p11.2
Summary	This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894191	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894192	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894193	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894196	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894197	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs267606653	G>A	Pathogenic	Stop gained, coding sequence variant
rs281865153	C>A,G,T	Risk-factor	Coding sequence variant, missense variant
rs281865154	T>C	Risk-factor	Coding sequence variant, missense variant
rs387906325	CGTCTTGCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776614	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777700	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs587777701	G>C	Pathogenic	Coding sequence variant, missense variant
rs587777702	GCACCGGGTC>AGTTGCCATCTCTGTTGAGATCTTAG	Pathogenic	Coding sequence variant, frameshift variant
rs869320717	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657391	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795941	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307637	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

202

Show/Hide all (202)

miRTarBase ID	miRNA	Experiments
MIRT779430	hsa-miR-103b	CLIP-seq
MIRT779431	hsa-miR-1184	CLIP-seq
MIRT779432	hsa-miR-1205	CLIP-seq
MIRT779433	hsa-miR-1243	CLIP-seq
MIRT779434	hsa-miR-1245b-5p	CLIP-seq
MIRT779435	hsa-miR-1253	CLIP-seq
MIRT779436	hsa-miR-1291	CLIP-seq
MIRT779437	hsa-miR-1297	CLIP-seq
MIRT779438	hsa-miR-1302	CLIP-seq
MIRT779439	hsa-miR-1321	CLIP-seq
MIRT779440	hsa-miR-1470	CLIP-seq
MIRT779441	hsa-miR-1909	CLIP-seq
MIRT779442	hsa-miR-1914	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT779444	hsa-miR-2110	CLIP-seq
MIRT779445	hsa-miR-2117	CLIP-seq
MIRT779446	hsa-miR-218	CLIP-seq
MIRT779447	hsa-miR-26a	CLIP-seq
MIRT779448	hsa-miR-26b	CLIP-seq
MIRT779449	hsa-miR-2861	CLIP-seq
MIRT779450	hsa-miR-3142	CLIP-seq
MIRT779451	hsa-miR-3145-5p	CLIP-seq
MIRT779452	hsa-miR-3158-5p	CLIP-seq
MIRT779453	hsa-miR-3175	CLIP-seq
MIRT779454	hsa-miR-3184	CLIP-seq
MIRT779455	hsa-miR-3194-3p	CLIP-seq
MIRT779456	hsa-miR-328	CLIP-seq
MIRT779457	hsa-miR-361-3p	CLIP-seq
MIRT779458	hsa-miR-3690	CLIP-seq
MIRT779459	hsa-miR-3911	CLIP-seq
MIRT779460	hsa-miR-3977	CLIP-seq
MIRT779461	hsa-miR-423-5p	CLIP-seq
MIRT779462	hsa-miR-4251	CLIP-seq
MIRT779463	hsa-miR-4254	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT779465	hsa-miR-4271	CLIP-seq
MIRT779466	hsa-miR-4273	CLIP-seq
MIRT779467	hsa-miR-4298	CLIP-seq
MIRT779468	hsa-miR-4434	CLIP-seq
MIRT779469	hsa-miR-4436b-3p	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT779471	hsa-miR-4459	CLIP-seq
MIRT779472	hsa-miR-4465	CLIP-seq
MIRT779473	hsa-miR-4469	CLIP-seq
MIRT779474	hsa-miR-4514	CLIP-seq
MIRT779475	hsa-miR-4516	CLIP-seq
MIRT779476	hsa-miR-4531	CLIP-seq
MIRT779477	hsa-miR-4640-5p	CLIP-seq
MIRT779478	hsa-miR-4692	CLIP-seq
MIRT779479	hsa-miR-4695-5p	CLIP-seq
MIRT779480	hsa-miR-4723-5p	CLIP-seq
MIRT779481	hsa-miR-4725-3p	CLIP-seq
MIRT779482	hsa-miR-4726-5p	CLIP-seq
MIRT779483	hsa-miR-4727-3p	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT779485	hsa-miR-4738-3p	CLIP-seq
MIRT779486	hsa-miR-4739	CLIP-seq
MIRT779487	hsa-miR-4749-3p	CLIP-seq
MIRT779488	hsa-miR-4756-5p	CLIP-seq
MIRT779489	hsa-miR-4761-3p	CLIP-seq
MIRT779490	hsa-miR-4797-5p	CLIP-seq
MIRT779491	hsa-miR-508-5p	CLIP-seq
MIRT779492	hsa-miR-539	CLIP-seq
MIRT779493	hsa-miR-548g	CLIP-seq
MIRT779494	hsa-miR-580	CLIP-seq
MIRT779495	hsa-miR-582-3p	CLIP-seq
MIRT779496	hsa-miR-636	CLIP-seq
MIRT779497	hsa-miR-665	CLIP-seq
MIRT779498	hsa-miR-760	CLIP-seq
MIRT1930036	hsa-miR-1207-5p	CLIP-seq
MIRT1930037	hsa-miR-1273g	CLIP-seq
MIRT779439	hsa-miR-1321	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT1930038	hsa-miR-3144-5p	CLIP-seq
MIRT1930039	hsa-miR-3189-3p	CLIP-seq
MIRT1930040	hsa-miR-3199	CLIP-seq
MIRT1930041	hsa-miR-3591-5p	CLIP-seq
MIRT1930042	hsa-miR-3612	CLIP-seq
MIRT779457	hsa-miR-361-3p	CLIP-seq
MIRT779458	hsa-miR-3690	CLIP-seq
MIRT779463	hsa-miR-4254	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT1930043	hsa-miR-4443	CLIP-seq
MIRT1930044	hsa-miR-4475	CLIP-seq
MIRT1930045	hsa-miR-4505	CLIP-seq
MIRT1930046	hsa-miR-4515	CLIP-seq
MIRT1930047	hsa-miR-4533	CLIP-seq
MIRT779477	hsa-miR-4640-5p	CLIP-seq
MIRT1930048	hsa-miR-4691-3p	CLIP-seq
MIRT779482	hsa-miR-4726-5p	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT1930049	hsa-miR-4731-5p	CLIP-seq
MIRT1930050	hsa-miR-4736	CLIP-seq
MIRT779486	hsa-miR-4739	CLIP-seq
MIRT779488	hsa-miR-4756-5p	CLIP-seq
MIRT1930051	hsa-miR-4763-3p	CLIP-seq
MIRT1930052	hsa-miR-4793-5p	CLIP-seq
MIRT1930053	hsa-miR-485-5p	CLIP-seq
MIRT1930054	hsa-miR-487a	CLIP-seq
MIRT1930055	hsa-miR-570	CLIP-seq
MIRT1930056	hsa-miR-635	CLIP-seq
MIRT1930057	hsa-miR-648	CLIP-seq
MIRT1930058	hsa-miR-650	CLIP-seq
MIRT779498	hsa-miR-760	CLIP-seq
MIRT1930059	hsa-miR-940	CLIP-seq
MIRT2170834	hsa-miR-1237	CLIP-seq
MIRT779433	hsa-miR-1243	CLIP-seq
MIRT2170835	hsa-miR-1248	CLIP-seq
MIRT2170836	hsa-miR-15a	CLIP-seq
MIRT2170837	hsa-miR-15b	CLIP-seq
MIRT2170838	hsa-miR-16	CLIP-seq
MIRT2170839	hsa-miR-185	CLIP-seq
MIRT2170840	hsa-miR-195	CLIP-seq
MIRT2170841	hsa-miR-3065-3p	CLIP-seq
MIRT2170842	hsa-miR-3127-5p	CLIP-seq
MIRT1930041	hsa-miR-3591-5p	CLIP-seq
MIRT2170843	hsa-miR-3616-3p	CLIP-seq
MIRT2170844	hsa-miR-3667-3p	CLIP-seq
MIRT2170845	hsa-miR-378g	CLIP-seq
MIRT2170846	hsa-miR-382	CLIP-seq
MIRT2170847	hsa-miR-424	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT2170848	hsa-miR-4283	CLIP-seq
MIRT2170849	hsa-miR-4306	CLIP-seq
MIRT779468	hsa-miR-4434	CLIP-seq
MIRT779469	hsa-miR-4436b-3p	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT2170850	hsa-miR-4446-3p	CLIP-seq
MIRT2170851	hsa-miR-4489	CLIP-seq
MIRT2170852	hsa-miR-4492	CLIP-seq
MIRT2170853	hsa-miR-4498	CLIP-seq
MIRT779474	hsa-miR-4514	CLIP-seq
MIRT779475	hsa-miR-4516	CLIP-seq
MIRT2170854	hsa-miR-4524	CLIP-seq
MIRT779476	hsa-miR-4531	CLIP-seq
MIRT2170855	hsa-miR-4644	CLIP-seq
MIRT2170856	hsa-miR-4659a-3p	CLIP-seq
MIRT2170857	hsa-miR-4659a-5p	CLIP-seq
MIRT2170858	hsa-miR-4659b-3p	CLIP-seq
MIRT2170859	hsa-miR-4659b-5p	CLIP-seq
MIRT779478	hsa-miR-4692	CLIP-seq
MIRT2170860	hsa-miR-4710	CLIP-seq
MIRT2170861	hsa-miR-4721	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT1930049	hsa-miR-4731-5p	CLIP-seq
MIRT2170862	hsa-miR-4776-3p	CLIP-seq
MIRT779490	hsa-miR-4797-5p	CLIP-seq
MIRT1930053	hsa-miR-485-5p	CLIP-seq
MIRT2170863	hsa-miR-496	CLIP-seq
MIRT2170864	hsa-miR-497	CLIP-seq
MIRT2170865	hsa-miR-503	CLIP-seq
MIRT779495	hsa-miR-582-3p	CLIP-seq
MIRT2170866	hsa-miR-646	CLIP-seq
MIRT779498	hsa-miR-760	CLIP-seq
MIRT2170867	hsa-miR-762	CLIP-seq
MIRT1930059	hsa-miR-940	CLIP-seq
MIRT2384115	hsa-miR-3160-5p	CLIP-seq
MIRT2435311	hsa-miR-1251	CLIP-seq
MIRT2435312	hsa-miR-21	CLIP-seq
MIRT1930042	hsa-miR-3612	CLIP-seq
MIRT2435313	hsa-miR-4715-3p	CLIP-seq
MIRT2435314	hsa-miR-590-5p	CLIP-seq
MIRT1930058	hsa-miR-650	CLIP-seq
MIRT2435315	hsa-miR-941	CLIP-seq
MIRT2170839	hsa-miR-185	CLIP-seq
MIRT2170842	hsa-miR-3127-5p	CLIP-seq
MIRT2170843	hsa-miR-3616-3p	CLIP-seq
MIRT2443599	hsa-miR-3689a-3p	CLIP-seq
MIRT2443600	hsa-miR-3689c	CLIP-seq
MIRT779464	hsa-miR-4270	CLIP-seq
MIRT2170849	hsa-miR-4306	CLIP-seq
MIRT2443601	hsa-miR-4426	CLIP-seq
MIRT779470	hsa-miR-4441	CLIP-seq
MIRT2170855	hsa-miR-4644	CLIP-seq
MIRT2443602	hsa-miR-4647	CLIP-seq
MIRT2443603	hsa-miR-4662b	CLIP-seq
MIRT779484	hsa-miR-4728-5p	CLIP-seq
MIRT2473474	hsa-miR-150	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT2473475	hsa-miR-224	CLIP-seq
MIRT779451	hsa-miR-3145-5p	CLIP-seq
MIRT2473476	hsa-miR-3671	CLIP-seq
MIRT2473477	hsa-miR-4713-5p	CLIP-seq
MIRT2473478	hsa-miR-4726-3p	CLIP-seq
MIRT2473479	hsa-miR-483-3p	CLIP-seq
MIRT2473480	hsa-miR-532-3p	CLIP-seq
MIRT2473481	hsa-miR-668	CLIP-seq
MIRT2473474	hsa-miR-150	CLIP-seq
MIRT779443	hsa-miR-1915	CLIP-seq
MIRT2473475	hsa-miR-224	CLIP-seq
MIRT779451	hsa-miR-3145-5p	CLIP-seq
MIRT2473476	hsa-miR-3671	CLIP-seq
MIRT2170846	hsa-miR-382	CLIP-seq
MIRT2170857	hsa-miR-4659a-5p	CLIP-seq
MIRT2170859	hsa-miR-4659b-5p	CLIP-seq
MIRT2473477	hsa-miR-4713-5p	CLIP-seq
MIRT2473478	hsa-miR-4726-3p	CLIP-seq
MIRT2170862	hsa-miR-4776-3p	CLIP-seq
MIRT2473479	hsa-miR-483-3p	CLIP-seq
MIRT2473480	hsa-miR-532-3p	CLIP-seq
MIRT2473481	hsa-miR-668	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	NAS	11106354
GO:0001942	Process	Hair follicle development	IMP	19692347
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	11137991
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19692347
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11137991
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048666	Process	Neuron development	IBA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0071837	Function	HMG box domain binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
605420	450	ENSG00000052850

Q9H161

Protein name

Homeobox protein aristaless-like 4

Protein function

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

PDB

2M0C , 8OSB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	215 → 271	Homeodomain	Domain
PF03826	OAR	387 → 405	OAR motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Expression is likely to be restricted to bone. Found in parietal bone.

Sequence

MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDA
KSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQP
HLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYL
SVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPD
VYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENY
AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVG
QTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT

Sequence length

411

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Frontonasal dysplasia with alopecia and genital anomaly	Pathogenic	rs587777701, rs876657391, rs267606653, rs869320717	RCV000144037 RCV000170519 RCV000005323 RCV000210924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parietal foramina 2	Pathogenic; Likely pathogenic	rs587777700, rs587777702, rs746479735, rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197, rs387906325	RCV000144036 RCV000144038 RCV002266523 RCV000005316 RCV000005317 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALX4-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 11P11.2 DELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis 5, susceptibility to	Benign; Likely benign; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cranium bifidum occultum	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA WITH ALOPECIA AND GENITAL ANOMALY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve glioma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTOCKI-SHAFFER SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrocephaly	Acrocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	12774039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24599127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita of scalp	Aplasia Cutis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy and Epispadias Complex	Bladder exstrophy and epispadias complex	Pubtator	32385972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29183346		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	29991755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28081728	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24037716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24599127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	11903336, 15852040, 17290930, 26333423		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	ORPHANET_DG	15852040		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17101318, 20804913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28540987, 28700744, 33504902, 35477541, 37881109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	BEFREE	24376213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	22829454, 34586326	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	22829454, 24376213		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18443202, 24145053, 30761081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11017806, 11106354, 11137991, 16319823, 19692347, 22829454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	16319823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enlarged parietal foramina	Enlarged parietal foramina	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	BEFREE	23401352, 24376213, 29681084		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontonasal dysplasia	Frontonasal Dysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA 2	Frontonasal Dysplasia	ORPHANET_DG	23401352		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA 2	Frontonasal Dysplasia	GENOMICS_ENGLAND_DG	29215649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA 2	Frontonasal Dysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontonasal dysplasia-alopecia-genital anomalies syndrome	Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	26333423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16319823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17101318, 28081728, 31132711, 31791584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	24037716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29998114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	15569759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29183346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17101318, 31132711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24037716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	24037716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31093972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17101318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24599127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11017806, 11106354, 11137991, 16319823, 19692347, 22829454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24037716, 28081728, 29183346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31646556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	BEFREE	11017806, 11106354, 11137991, 15569759, 15852040, 23401352, 24764194, 26333423, 30487643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parietal Foramina	Parietal foramina	Pubtator	15569759, 16319823, 30487643, 36555772	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	ORPHANET_DG	16319823		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	GENOMICS_ENGLAND_DG	29215649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA 2	Parietal Foramina	UNIPROT_DG	11106354, 11137991		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parietal Foramina 2	Parietal foramina	Pubtator	15569759	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARIETAL FORAMINA 2	Parietal Foramina	GENOMICS_ENGLAND_DG	29215649		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARIETAL FORAMINA 2	Parietal Foramina	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARIETAL FORAMINA 2	Parietal Foramina	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CTD_human_DG	9847249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Potocki-Shaffer syndrome	Potocki-Shaffer Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scaphycephaly	Scaphocephaly	ORPHANET_DG	22829454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	17065792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31093972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31093972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	32385972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ALX4 (ALX homeobox 4)