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	27245
Gene name	AT-hook DNA binding motif containing 1
Gene symbol	AHDC1
Synonyms (NCBI Gene)	MRD25XIGIS
Chromosome	1
Chromosome location	1p36.11-p35.3
Summary	This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

Show/Hide all (54)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587779766	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779767	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779768	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs749294057	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs777736953	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs796065040	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs796065041	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs796065042	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs796065043	TCATCCGAATCGAGCAG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312858	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886039900	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041620	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041676	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041781	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041920	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1013039657	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1036650716	G>A,C	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs1064793924	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064795000	->TTGCGGCG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064797043	TTTT>-,TTTTT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131691276	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131691609	AGAAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1135401761	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1165205177	G>A,C	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1553157912	GG>A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553158393	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553158517	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe indel, stop gained
rs1553158679	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553158807	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553158947	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553158952	CC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159009	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553159175	C>AA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159284	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159383	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553159575	G>-	Not-provided, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159581	C>-	Not-provided, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159753	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553159764	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159979	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557655967	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557658942	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1557667078	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571229515	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571231587	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571232632	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571234939	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571235473	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571236369	ACCT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571237925	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571240391	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571242220	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571242436	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571244033	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

151

Show/Hide all (151)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041779	hsa-miR-484	CLASH	23622248
MIRT041200	hsa-miR-193b-3p	CLASH	23622248
MIRT728370	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728369	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT773561	hsa-miR-1206	CLIP-seq
MIRT773562	hsa-miR-129-5p	CLIP-seq
MIRT773563	hsa-miR-148a	CLIP-seq
MIRT773564	hsa-miR-148b	CLIP-seq
MIRT773565	hsa-miR-152	CLIP-seq
MIRT773566	hsa-miR-2052	CLIP-seq
MIRT773567	hsa-miR-3184	CLIP-seq
MIRT773568	hsa-miR-3935	CLIP-seq
MIRT773569	hsa-miR-4263	CLIP-seq
MIRT773570	hsa-miR-4264	CLIP-seq
MIRT773571	hsa-miR-4753-3p	CLIP-seq
MIRT773572	hsa-miR-4797-3p	CLIP-seq
MIRT773573	hsa-miR-4799-5p	CLIP-seq
MIRT773574	hsa-miR-511	CLIP-seq
MIRT773575	hsa-miR-513a-3p	CLIP-seq
MIRT773576	hsa-miR-548a-3p	CLIP-seq
MIRT773577	hsa-miR-548e	CLIP-seq
MIRT773578	hsa-miR-548f	CLIP-seq
MIRT773579	hsa-miR-548g	CLIP-seq
MIRT773580	hsa-miR-576-5p	CLIP-seq
MIRT773581	hsa-miR-577	CLIP-seq
MIRT773582	hsa-miR-579	CLIP-seq
MIRT773583	hsa-miR-708	CLIP-seq
MIRT773584	hsa-miR-892a	CLIP-seq
MIRT1545190	hsa-miR-1909	CLIP-seq
MIRT1545191	hsa-miR-378	CLIP-seq
MIRT1545192	hsa-miR-378b	CLIP-seq
MIRT1545193	hsa-miR-378c	CLIP-seq
MIRT1545194	hsa-miR-378d	CLIP-seq
MIRT1545195	hsa-miR-378e	CLIP-seq
MIRT1545196	hsa-miR-378f	CLIP-seq
MIRT1545197	hsa-miR-378h	CLIP-seq
MIRT1545198	hsa-miR-378i	CLIP-seq
MIRT1545199	hsa-miR-422a	CLIP-seq
MIRT1545200	hsa-miR-4283	CLIP-seq
MIRT1545201	hsa-miR-4638-3p	CLIP-seq
MIRT1545202	hsa-miR-760	CLIP-seq
MIRT1928303	hsa-miR-1184	CLIP-seq
MIRT1928304	hsa-miR-1205	CLIP-seq
MIRT1928305	hsa-miR-1273f	CLIP-seq
MIRT773562	hsa-miR-129-5p	CLIP-seq
MIRT1928306	hsa-miR-140-3p	CLIP-seq
MIRT773563	hsa-miR-148a	CLIP-seq
MIRT773564	hsa-miR-148b	CLIP-seq
MIRT773565	hsa-miR-152	CLIP-seq
MIRT1545190	hsa-miR-1909	CLIP-seq
MIRT1928307	hsa-miR-193a-5p	CLIP-seq
MIRT1928308	hsa-miR-214	CLIP-seq
MIRT1928309	hsa-miR-299-5p	CLIP-seq
MIRT1928310	hsa-miR-300	CLIP-seq
MIRT1928311	hsa-miR-3158-5p	CLIP-seq
MIRT1928312	hsa-miR-3615	CLIP-seq
MIRT1928313	hsa-miR-3619-5p	CLIP-seq
MIRT1545191	hsa-miR-378	CLIP-seq
MIRT1545192	hsa-miR-378b	CLIP-seq
MIRT1545193	hsa-miR-378c	CLIP-seq
MIRT1545194	hsa-miR-378d	CLIP-seq
MIRT1545195	hsa-miR-378e	CLIP-seq
MIRT1545196	hsa-miR-378f	CLIP-seq
MIRT1545197	hsa-miR-378h	CLIP-seq
MIRT1545198	hsa-miR-378i	CLIP-seq
MIRT1928314	hsa-miR-381	CLIP-seq
MIRT773568	hsa-miR-3935	CLIP-seq
MIRT1545199	hsa-miR-422a	CLIP-seq
MIRT773570	hsa-miR-4264	CLIP-seq
MIRT1545200	hsa-miR-4283	CLIP-seq
MIRT1928315	hsa-miR-4284	CLIP-seq
MIRT1928316	hsa-miR-4419a	CLIP-seq
MIRT1928317	hsa-miR-4437	CLIP-seq
MIRT1928318	hsa-miR-4510	CLIP-seq
MIRT1928319	hsa-miR-4527	CLIP-seq
MIRT1545201	hsa-miR-4638-3p	CLIP-seq
MIRT1928320	hsa-miR-4651	CLIP-seq
MIRT1928321	hsa-miR-4666-3p	CLIP-seq
MIRT1928322	hsa-miR-4722-3p	CLIP-seq
MIRT773571	hsa-miR-4753-3p	CLIP-seq
MIRT773572	hsa-miR-4797-3p	CLIP-seq
MIRT1928323	hsa-miR-507	CLIP-seq
MIRT773575	hsa-miR-513a-3p	CLIP-seq
MIRT773576	hsa-miR-548a-3p	CLIP-seq
MIRT773577	hsa-miR-548e	CLIP-seq
MIRT773578	hsa-miR-548f	CLIP-seq
MIRT1928324	hsa-miR-557	CLIP-seq
MIRT773581	hsa-miR-577	CLIP-seq
MIRT1928325	hsa-miR-608	CLIP-seq
MIRT1928326	hsa-miR-657	CLIP-seq
MIRT773583	hsa-miR-708	CLIP-seq
MIRT1928327	hsa-miR-720	CLIP-seq
MIRT1545202	hsa-miR-760	CLIP-seq
MIRT1928328	hsa-miR-761	CLIP-seq
MIRT1928305	hsa-miR-1273f	CLIP-seq
MIRT2169096	hsa-miR-1293	CLIP-seq
MIRT1928306	hsa-miR-140-3p	CLIP-seq
MIRT773563	hsa-miR-148a	CLIP-seq
MIRT773564	hsa-miR-148b	CLIP-seq
MIRT773565	hsa-miR-152	CLIP-seq
MIRT1545190	hsa-miR-1909	CLIP-seq
MIRT1928308	hsa-miR-214	CLIP-seq
MIRT1928309	hsa-miR-299-5p	CLIP-seq
MIRT1928310	hsa-miR-300	CLIP-seq
MIRT2169097	hsa-miR-3150b-3p	CLIP-seq
MIRT1928313	hsa-miR-3619-5p	CLIP-seq
MIRT2169098	hsa-miR-3650	CLIP-seq
MIRT2169099	hsa-miR-3657	CLIP-seq
MIRT1545191	hsa-miR-378	CLIP-seq
MIRT1545192	hsa-miR-378b	CLIP-seq
MIRT1545193	hsa-miR-378c	CLIP-seq
MIRT1545194	hsa-miR-378d	CLIP-seq
MIRT1545195	hsa-miR-378e	CLIP-seq
MIRT1545196	hsa-miR-378f	CLIP-seq
MIRT1545197	hsa-miR-378h	CLIP-seq
MIRT1545198	hsa-miR-378i	CLIP-seq
MIRT1928314	hsa-miR-381	CLIP-seq
MIRT773568	hsa-miR-3935	CLIP-seq
MIRT1545199	hsa-miR-422a	CLIP-seq
MIRT773570	hsa-miR-4264	CLIP-seq
MIRT1545200	hsa-miR-4283	CLIP-seq
MIRT2169100	hsa-miR-4455	CLIP-seq
MIRT2169101	hsa-miR-4483	CLIP-seq
MIRT1545201	hsa-miR-4638-3p	CLIP-seq
MIRT1928320	hsa-miR-4651	CLIP-seq
MIRT1928321	hsa-miR-4666-3p	CLIP-seq
MIRT2169102	hsa-miR-4669	CLIP-seq
MIRT1928322	hsa-miR-4722-3p	CLIP-seq
MIRT2169103	hsa-miR-4784	CLIP-seq
MIRT773572	hsa-miR-4797-3p	CLIP-seq
MIRT1928323	hsa-miR-507	CLIP-seq
MIRT773575	hsa-miR-513a-3p	CLIP-seq
MIRT1928324	hsa-miR-557	CLIP-seq
MIRT2169104	hsa-miR-570	CLIP-seq
MIRT773581	hsa-miR-577	CLIP-seq
MIRT773582	hsa-miR-579	CLIP-seq
MIRT1928325	hsa-miR-608	CLIP-seq
MIRT2169105	hsa-miR-609	CLIP-seq
MIRT1928326	hsa-miR-657	CLIP-seq
MIRT1545202	hsa-miR-760	CLIP-seq
MIRT1928328	hsa-miR-761	CLIP-seq
MIRT2169106	hsa-miR-765	CLIP-seq
MIRT773582	hsa-miR-579	CLIP-seq
MIRT2426109	hsa-miR-144	CLIP-seq
MIRT1928310	hsa-miR-300	CLIP-seq
MIRT2426110	hsa-miR-338-5p	CLIP-seq
MIRT2426111	hsa-miR-369-3p	CLIP-seq
MIRT2426112	hsa-miR-374a	CLIP-seq
MIRT2426113	hsa-miR-374b	CLIP-seq
MIRT1928314	hsa-miR-381	CLIP-seq
MIRT1928321	hsa-miR-4666-3p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001707	Process	Mesoderm formation	IDA	35585237
GO:0001707	Process	Mesoderm formation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	35585237
GO:0005515	Function	Protein binding	IPI	16713569, 32814053
GO:0005634	Component	Nucleus	IDA	33644933
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0043589	Process	Skin morphogenesis	IDA	35585237
GO:0043589	Process	Skin morphogenesis	IEA
GO:0140585	Function	Promoter-enhancer loop anchoring activity	IDA	35585237

MIM	HGNC	e!Ensembl
615790	25230	ENSG00000126705

Q5TGY3

Protein name

Transcription factor Gibbin (AT-hook DNA-binding motif-containing protein 1)

Protein function

Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter ch

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15735	DUF4683	562 → 642	Domain of unknown function (DUF4683)	Family

Sequence

MRVKPQGLVVTSSAVCSSPDYLREPKYYPGGPPTPRPLLPTRPPASPPDKAFSTHAFSEN
PRPPPRRDPSTRRPPVLAKGDDPLPPRAARPVSQARCPTPVGDGSSSRRCWDNGRVNLRP
VVQLIDIMKDLTRLSQDLQHSGVHLDCGGLRLSRPPAPPPGDLQYSFFSSPSLANSIRSP
EERATPHAKSERPSHPLYEPEPEPRDSPQPGQGHSPGATAAATGLPPEPEPDSTDYSELA
DADILSELASLTCPEAQLLEAQALEPPSPEPEPQLLDPQPRFLDPQALEPLGEALELPPL
QPLADPLGLPGLALQALDTLPDSLESQLLDPQALDPLPKLLDVPGRRLEPQQPLGHCPLA
EPLRLDLCSPHGPPGPEGHPKYALRRTDRPKILCRRRKAGRGRKADAGPEGRLLPLPMPT
GLVAALAEPPPPPPPPPPALPGPGPVSVPELKPESSQTPVVSTRKGKCRGVRRMVVKMAK
IPVSLGRRNKTTYKVSSLSSSLSVEGKELGLRVSAEPTPLLKMKNNGRNVVVVFPPGEMP
IILKRKRGRPPKNLLLGPGKPKEPAVVAAEAATVAAATMAMPEVKKRRRRKQKLASPQPS
YAADANDSKAEYSDVLAKLAFLNRQSQCAGRCSPPRCWTPSEPESVHQAPDTQSISHFLH
RVQGFRRRGGKAGGFGGRGGGHAAKSARCSFSDFFEGIGKKKKVVAVAAAGVGGPGLTEL
GHPRKRGRGEVDAVTGKPKRKRRSRKNGTLFPEQVPSGPGFGEAGAEWAGDKGGGWAPHH
GHPGGQAGRNCGFQGTEARAFASTGLESGASGRGSYYSTGAPSGQTELSQERQNLFTGYF
RSLLDSDDSSDLLDFALSASRPESRKASGTYAGPPTSALPAQRGLATFPSRGAKASPVAV
GSSGAGADPSFQPVLSARQTFPPGRAASYGLTPAASDCRAAETFPKLVPPPSAMARSPTT
HPPANTYLPQYGGYGAGQSVFAPTKPFTGQDCANSKDCSFAYGSGNSLPASPSSAHSAGY
APPPTGGPCLPPSKASFFSSSEGAPFSGSAPTPLRCDSRASTVSPGGYMVPKGTTASATS
AASAASSSSSSFQPSPENCRQFAGASQWPFRQGYGGLDWASEAFSQLYNPSFDCHVSEPN
VILDISNYTPQKVKQQTAVSETFSESSSDSTQFNQPVGGGGFRRANSEASSSEGQSSLSS
LEKLMMDWNEASSAPGYNWNQSVLFQSSSKPGRGRRKKVDLFEASHLGFPTSASAAASGY
PSKRSTGPRQPRGGRGGGACSAKKERGGAAAKAKFIPKPQPVNPLFQDSPDLGLDYYSGD
SSMSPLPSQSRAFGVGERDPCDFIGPYSMNPSTPSDGTFGQGFHCDSPSLGAPELDGKHF
PPLAHPPTVFDAGLQKAYSPTCSPTLGFKEELRPPPTKLAACEPLKHGLQGASLGHAAAA
QAHLSCRDLPLGQPHYDSPSCKGTAYWYPPGSAARSPPYEGKVGTGLLADFLGRTEAACL
SAPHLASPPATPKADKEPLEMARPPGPPRGPAAAAAGYGCPLLSDLTLSPVPRDSLLPLQ
DTAYRYPGFMPQAHPGLGGGPKSGFLGPMAEPHPEDTFTVTSL

Sequence length

1603

Interactions

View interactions

448

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abdominal obesity-metabolic syndrome 3	Likely pathogenic; Pathogenic	rs777736953	RCV000590880
AHDC1-related disorder	Likely pathogenic; Pathogenic	rs749294057, rs2521944324	RCV003420560 RCV003410574
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	Pathogenic; Likely pathogenic	rs2148289299, rs2148277610, rs2148283415, rs2148285877, rs1064797043, rs2148281776, rs587779766, rs587779767, rs587779768, rs2148263628, rs2148266336, rs2148275240, rs2148288765, rs2148276974, rs2521899841 View all (63 more)	RCV001354044 RCV001374407 RCV001788491 RCV001775216 RCV001775263 RCV001829281 RCV000119838 RCV000119839 RCV000119840 RCV002052237 RCV002211053 RCV002249241 RCV002275375 RCV002302429 RCV002465460 RCV002468838 RCV001563700 RCV001563688 RCV004767157 RCV002789983 RCV003128002 RCV003152875 RCV000256460 RCV001563687 RCV001563695 RCV001563693 RCV003314338 RCV003334447 RCV003335986 RCV003337710 RCV003348537 RCV003348539 RCV003348540 RCV003348541 RCV003883304 RCV003883326 RCV003989442 RCV003991514 RCV003992034 RCV004547349 RCV004557239 RCV000496162 RCV000505191 RCV001563684 RCV000578263 RCV001331484 RCV000590909 RCV000844951 RCV000844950 RCV001563697 RCV000660414 RCV000677394 RCV000677417 RCV001563698 RCV000779650 RCV000790983 RCV000824990 RCV000984972 RCV000986286 RCV000995693 RCV001007944 RCV001027686 RCV001251889 RCV001252958 RCV001263210 RCV001263211 RCV001261553 RCV002290671 RCV001269392 RCV001563702 RCV001563701 RCV001563699 RCV001563696 RCV001563694 RCV001563692 RCV001563691 RCV001563690 RCV001563689 RCV001563686 RCV001563683 RCV001563682
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs1557667078	RCV000779650
Cerebral visual impairment and intellectual disability	Pathogenic	rs869312858	RCV000210395
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1557667078	RCV001257946
Delayed speech and language development	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169
Global developmental delay	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169
Hypotonia	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000235041 RCV000235067 RCV000235083
Intellectual disability	Pathogenic; Likely pathogenic	rs587779766, rs587779767, rs587779768, rs1165205177, rs2019335082, rs2019359088	RCV000144167 RCV000144168 RCV000144169 RCV005625650 RCV001249503 RCV001249502
Neonatal hypotonia	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169
Neurodevelopmental abnormality	Pathogenic	rs1064797043, rs1571240391, rs2019544779	RCV001264650 RCV001264640 RCV001264618
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2148263577, rs2148265469	RCV002274306 RCV002274307
Neurodevelopmental disorder	Pathogenic	rs2019410275	RCV003389169
See cases	Likely pathogenic; Pathogenic	rs2148291547, rs2148284522, rs1571232632	RCV001420244 RCV002253129 RCV003156188
Sleep apnea	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs138778676	RCV005903409
Adrenocortical carcinoma, hereditary	Benign	rs113173951, rs112583157	RCV005909573 RCV005914420
Autism spectrum disorder	Likely benign	rs2019499698	RCV003128011
Cervical cancer	Benign; Likely benign	rs112583157, rs950217952	RCV005914421 RCV005899712
Colon adenocarcinoma	Benign	rs113173951	RCV005909572
Familial cancer of breast	Benign	rs112583157	RCV005914417
Gastric cancer	Likely benign	rs756739229	RCV005931339
Glioma susceptibility 1	Likely benign	rs151218177	RCV005903144
Hepatocellular carcinoma	Benign; Likely benign	rs112583157, rs202137607	RCV005914418 RCV005910523
Lung cancer	Benign	rs112583157	RCV005914424
Malignant tumor of esophagus	Benign	rs112583157	RCV005914419
Melanoma	Benign	rs113173951	RCV005909576
Sarcoma	Benign	rs138778676	RCV005903410
Spastic ataxia	Benign; Likely benign	rs781513175	RCV001647257
Thymoma	Benign; Likely benign	rs113173951, rs112583157, rs201035986	RCV005909575 RCV005914422 RCV005932852
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs112583157, rs111941243	RCV005914423 RCV005902873
Uterine carcinosarcoma	Benign	rs113173951	RCV005909574
Uterine corpus endometrial carcinoma	Benign	rs138778676	RCV005903411

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Associate	34313325
Chronic Kidney Disease Mineral and Bone Disorder	Associate	31085678
Craniosynostoses	Associate	27884935
Developmental Disabilities	Associate	35636160
Dwarfism Pituitary	Associate	30729726
Epilepsy	Associate	35636160
Gardner Syndrome	Associate	36054313
Genetic Diseases Inborn	Associate	24791903
Hypersensitivity Delayed	Associate	33644933
Intellectual Disability	Associate	31085678
Language Development Disorders	Associate	24791903
Lennox Gastaut Syndrome	Associate	35636160
Mental Retardation Autosomal Dominant 3	Associate	30729726
Muscle Hypertonia	Associate	33644933
Muscle Hypotonia	Associate	24791903, 33644933, 35636160
Scoliosis	Associate	33644933
Seizures	Associate	33644933, 35636160
Sleep Apnea Obstructive	Associate	31737670
Sleep Apnea Syndromes	Associate	24791903, 35636160
Speech Disorders	Associate	35636160
Uterine Cervical Neoplasms	Associate	31390932
Vision Disorders	Associate	26350515

AHDC1 (AT-hook DNA binding motif containing 1)