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

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 (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abdominal obesity-metabolic syndrome 3	Likely pathogenic; Pathogenic	rs777736953	RCV000590880	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AHDC1-related disorder	Likely pathogenic; Pathogenic	rs749294057, rs2521944324	RCV003420560 RCV003410574	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (76 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs1557667078	RCV000779650	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral visual impairment and intellectual disability	Pathogenic	rs869312858	RCV000210395	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1557667078	RCV001257946	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000235041 RCV000235067 RCV000235083	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs587779766, rs587779767, rs587779768, rs1165205177, rs2019335082, rs2019359088	RCV000144167 RCV000144168 RCV000144169 RCV005625650 RCV001249503 RCV001249502 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal hypotonia	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs1064797043, rs1571240391, rs2019544779	RCV001264650 RCV001264640 RCV001264618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2148263577, rs2148265469	RCV002274306 RCV002274307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2019410275	RCV003389169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sleep apnea	Pathogenic	rs587779766, rs587779767, rs587779768	RCV000144167 RCV000144168 RCV000144169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA SYNDROMES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XIA-GIBBS SYNDROME	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ABDOMINAL OBESITY-METABOLIC SYNDROME 3	Metabolic syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Xia-Gibbs syndrome	ORPHANET_DG	24791903		★★★★★ ★☆☆☆☆ Found in Text Mining only
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Xia-Gibbs syndrome	GENOMICS_ENGLAND_DG	24791903		★★★★★ ★☆☆☆☆ Found in Text Mining only
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Xia-Gibbs syndrome	CLINVAR_DG	24791903		★★★★★ ★☆☆☆☆ Found in Text Mining only
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Xia-Gibbs syndrome	BEFREE	29696776, 30152016, 30615951, 30729726, 30858058		★★★★★ ★☆☆☆☆ Found in Text Mining only
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Xia-Gibbs syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34313325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	26350515		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31390932		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	31390932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25574029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	27884935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30858058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30729726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35636160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	30729726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35636160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	24791903		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	BEFREE	25574029		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33644933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31085678	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Language Development Disorders	Language development disorders	Pubtator	24791903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31390932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Dominant 3	Intellectual developmental disorder	Pubtator	30729726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG	24791903		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30152016, 30615951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	33644933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33644933, 35636160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	31737670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	24791903, 25574029		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG	24791903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep apnea	Pubtator	24791903, 35636160	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31390932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AHDC1 (AT-hook DNA binding motif containing 1)