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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57514
Gene name	Rho GTPase activating protein 31
Gene symbol	ARHGAP31
Synonyms (NCBI Gene)	AOSAOS1CDGAP
Chromosome	3
Chromosome location	3q13.32-q13.33
Summary	This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulate

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139733647	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200233879	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs200598971	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201519981	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs201927115	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs387907031	C>T	Pathogenic	Coding sequence variant, stop gained
rs1553768038	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559999373	A>-	Pathogenic	Frameshift variant, coding sequence variant

182

Show/Hide all (182)

miRTarBase ID	miRNA	Experiments	Reference
MIRT660539	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660538	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT660537	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT660536	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660535	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT494723	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT494724	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT494722	hsa-miR-1321	PAR-CLIP	23592263
MIRT494721	hsa-miR-4739	PAR-CLIP	23592263
MIRT494720	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT494719	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT494718	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT494717	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT494716	hsa-miR-4784	PAR-CLIP	23592263
MIRT494715	hsa-miR-4419a	PAR-CLIP	23592263
MIRT494714	hsa-miR-4510	PAR-CLIP	23592263
MIRT494713	hsa-miR-6127	PAR-CLIP	23592263
MIRT494712	hsa-miR-6129	PAR-CLIP	23592263
MIRT494711	hsa-miR-6130	PAR-CLIP	23592263
MIRT494710	hsa-miR-6133	PAR-CLIP	23592263
MIRT494708	hsa-miR-4706	PAR-CLIP	23592263
MIRT494709	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT494707	hsa-miR-765	PAR-CLIP	23592263
MIRT494706	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT494705	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT494704	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT494702	hsa-miR-663a	PAR-CLIP	23592263
MIRT494703	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT494701	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT494700	hsa-miR-8085	PAR-CLIP	23592263
MIRT494698	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT494699	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT494697	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT494696	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT494695	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT494693	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT494694	hsa-miR-4730	PAR-CLIP	23592263
MIRT494692	hsa-miR-6770-3p	PAR-CLIP	23592263
MIRT660539	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660538	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT660537	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT660536	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660535	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT494723	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT494724	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT494722	hsa-miR-1321	PAR-CLIP	23592263
MIRT494721	hsa-miR-4739	PAR-CLIP	23592263
MIRT494720	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT494719	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT494718	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT494717	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT494716	hsa-miR-4784	PAR-CLIP	23592263
MIRT494715	hsa-miR-4419a	PAR-CLIP	23592263
MIRT494714	hsa-miR-4510	PAR-CLIP	23592263
MIRT494713	hsa-miR-6127	PAR-CLIP	23592263
MIRT494712	hsa-miR-6129	PAR-CLIP	23592263
MIRT494711	hsa-miR-6130	PAR-CLIP	23592263
MIRT494710	hsa-miR-6133	PAR-CLIP	23592263
MIRT494708	hsa-miR-4706	PAR-CLIP	23592263
MIRT494709	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT494707	hsa-miR-765	PAR-CLIP	23592263
MIRT494706	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT494705	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT494704	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT494702	hsa-miR-663a	PAR-CLIP	23592263
MIRT494703	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT494701	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT494700	hsa-miR-8085	PAR-CLIP	23592263
MIRT494698	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT494699	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT494697	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT494696	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT494695	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT494693	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT494694	hsa-miR-4730	PAR-CLIP	23592263
MIRT494692	hsa-miR-6770-3p	PAR-CLIP	23592263
MIRT794451	hsa-miR-1245b-3p	CLIP-seq
MIRT794452	hsa-miR-1279	CLIP-seq
MIRT794453	hsa-miR-1294	CLIP-seq
MIRT794454	hsa-miR-1324	CLIP-seq
MIRT794455	hsa-miR-1343	CLIP-seq
MIRT794456	hsa-miR-140-3p	CLIP-seq
MIRT794457	hsa-miR-150	CLIP-seq
MIRT794458	hsa-miR-185	CLIP-seq
MIRT794459	hsa-miR-2110	CLIP-seq
MIRT794460	hsa-miR-3125	CLIP-seq
MIRT794461	hsa-miR-3147	CLIP-seq
MIRT794462	hsa-miR-3148	CLIP-seq
MIRT794463	hsa-miR-3176	CLIP-seq
MIRT794464	hsa-miR-3202	CLIP-seq
MIRT794465	hsa-miR-320a	CLIP-seq
MIRT794466	hsa-miR-320b	CLIP-seq
MIRT794467	hsa-miR-320c	CLIP-seq
MIRT794468	hsa-miR-320d	CLIP-seq
MIRT794469	hsa-miR-340	CLIP-seq
MIRT794470	hsa-miR-3545-3p	CLIP-seq
MIRT794471	hsa-miR-3663-5p	CLIP-seq
MIRT794472	hsa-miR-3688-3p	CLIP-seq
MIRT794473	hsa-miR-378g	CLIP-seq
MIRT794474	hsa-miR-3916	CLIP-seq
MIRT794475	hsa-miR-3922-3p	CLIP-seq
MIRT794476	hsa-miR-3942-3p	CLIP-seq
MIRT794477	hsa-miR-3976	CLIP-seq
MIRT794478	hsa-miR-4267	CLIP-seq
MIRT794479	hsa-miR-4271	CLIP-seq
MIRT794480	hsa-miR-4306	CLIP-seq
MIRT794481	hsa-miR-4316	CLIP-seq
MIRT794482	hsa-miR-4326	CLIP-seq
MIRT794483	hsa-miR-4423-5p	CLIP-seq
MIRT794484	hsa-miR-4425	CLIP-seq
MIRT794485	hsa-miR-4429	CLIP-seq
MIRT794486	hsa-miR-4437	CLIP-seq
MIRT794487	hsa-miR-450b-3p	CLIP-seq
MIRT794488	hsa-miR-4533	CLIP-seq
MIRT794489	hsa-miR-4635	CLIP-seq
MIRT794490	hsa-miR-4644	CLIP-seq
MIRT794491	hsa-miR-4659a-3p	CLIP-seq
MIRT794492	hsa-miR-4659b-3p	CLIP-seq
MIRT794493	hsa-miR-4663	CLIP-seq
MIRT794494	hsa-miR-4667-5p	CLIP-seq
MIRT794495	hsa-miR-4668-5p	CLIP-seq
MIRT794496	hsa-miR-4674	CLIP-seq
MIRT794497	hsa-miR-4680-5p	CLIP-seq
MIRT794498	hsa-miR-4700-5p	CLIP-seq
MIRT794499	hsa-miR-4725-3p	CLIP-seq
MIRT794500	hsa-miR-488	CLIP-seq
MIRT794501	hsa-miR-520g	CLIP-seq
MIRT794502	hsa-miR-520h	CLIP-seq
MIRT794503	hsa-miR-576-3p	CLIP-seq
MIRT794504	hsa-miR-578	CLIP-seq
MIRT794505	hsa-miR-607	CLIP-seq
MIRT794506	hsa-miR-610	CLIP-seq
MIRT794507	hsa-miR-661	CLIP-seq
MIRT794508	hsa-miR-769-3p	CLIP-seq
MIRT1545502	hsa-miR-1908	CLIP-seq
MIRT794470	hsa-miR-3545-3p	CLIP-seq
MIRT794471	hsa-miR-3663-5p	CLIP-seq
MIRT794483	hsa-miR-4423-5p	CLIP-seq
MIRT794489	hsa-miR-4635	CLIP-seq
MIRT794497	hsa-miR-4680-5p	CLIP-seq
MIRT1545503	hsa-miR-663	CLIP-seq
MIRT1545504	hsa-miR-720	CLIP-seq
MIRT1934469	hsa-miR-197	CLIP-seq
MIRT794463	hsa-miR-3176	CLIP-seq
MIRT794470	hsa-miR-3545-3p	CLIP-seq
MIRT794471	hsa-miR-3663-5p	CLIP-seq
MIRT794475	hsa-miR-3922-3p	CLIP-seq
MIRT1934470	hsa-miR-412	CLIP-seq
MIRT794483	hsa-miR-4423-5p	CLIP-seq
MIRT794489	hsa-miR-4635	CLIP-seq
MIRT794491	hsa-miR-4659a-3p	CLIP-seq
MIRT794492	hsa-miR-4659b-3p	CLIP-seq
MIRT794497	hsa-miR-4680-5p	CLIP-seq
MIRT1934471	hsa-miR-4742-3p	CLIP-seq
MIRT1934472	hsa-miR-615-5p	CLIP-seq
MIRT1545504	hsa-miR-720	CLIP-seq
MIRT2174297	hsa-miR-1273f	CLIP-seq
MIRT2174298	hsa-miR-300	CLIP-seq
MIRT2174299	hsa-miR-381	CLIP-seq
MIRT1934470	hsa-miR-412	CLIP-seq
MIRT794491	hsa-miR-4659a-3p	CLIP-seq
MIRT794492	hsa-miR-4659b-3p	CLIP-seq
MIRT1934471	hsa-miR-4742-3p	CLIP-seq
MIRT2174300	hsa-miR-4755-3p	CLIP-seq
MIRT1934472	hsa-miR-615-5p	CLIP-seq
MIRT1545504	hsa-miR-720	CLIP-seq
MIRT2384401	hsa-miR-205	CLIP-seq
MIRT2384402	hsa-miR-3690	CLIP-seq
MIRT2384403	hsa-miR-4254	CLIP-seq
MIRT2384404	hsa-miR-4268	CLIP-seq
MIRT2384405	hsa-miR-4287	CLIP-seq
MIRT2384406	hsa-miR-4633-3p	CLIP-seq
MIRT2384407	hsa-miR-4685-3p	CLIP-seq
MIRT2384408	hsa-miR-4793-5p	CLIP-seq
MIRT2384409	hsa-miR-544	CLIP-seq
MIRT2477929	hsa-miR-1183	CLIP-seq
MIRT2477930	hsa-miR-186	CLIP-seq
MIRT2477931	hsa-miR-3133	CLIP-seq
MIRT2477932	hsa-miR-3607-3p	CLIP-seq
MIRT2477933	hsa-miR-4297	CLIP-seq
MIRT2477934	hsa-miR-513b	CLIP-seq
MIRT2477935	hsa-miR-532-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	32203420, 35044719
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
610911	29216	ENSG00000031081

Q2M1Z3

Protein name

Rho GTPase-activating protein 31 (Cdc42 GTPase-activating protein)

Protein function

Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00620	RhoGAP	35 → 187	RhoGAP domain	Domain

Sequence

MKNKGAKQKLKRKGAASAFGCDLTEYLESSGQDVPYVLKSCAEFIETHGIVDGIYRLSGV
TSNIQRLRQEFGSDQCPDLTREVYLQDIHCVGSLCKLYFRELPNPLLTYELYEKFTEAVS
HCPEEGQLARIQNVIQELPPSHYRTLEYLIRHLAHIASFSSKTNMHARNLALVWAPNLLR
SKEIEATGCNGDAAFLAVRVQQVVIEFILNHVDQIFNNGAPGSLENDENRPIMKSLTLPA
LSLPMKLVSLEEAQARSLATNHPARKERRENSLPEIVPPMGTLFHTVLELPDNKRKLSSK
SKKWKSIFNLGRSGSDSKSKLSRNGSVFVRGQRLSVEKATIRPAKSMDSLCSVPVEGKET
KGNFNRTVTTGGFFIPATKMHSTGTGSSCDLTKQEGEWGQEGMPPGAEGGFDVSSDRSHL
QGAQARPPPEQLKVFRPVEDPESEQTAPKMLGMFYTSNDSPSKSVFTSSLFQMEPSPRNQ
RKALNISEPFAVSVPLRVSAVISTNSTPCRTPPKELQSLSSLEEFSFHGSESGGWPEEEK
PLGAETSAASVPKKAGLEDAKAVPEAPGTVECSKGLSQEPGAHLEEKKTPESSLSSQHLN
ELEKRPNPEKVVEEGREAGEMESSTLQESPRARAEAVLLHEMDEDDLANALIWPEIQQEL
KIIESEEELSSLPPPALKTSPIQPILESSLGPFIPSEPPGSLPCGSFPAPVSTPLEVWTR
DPANQSTQGASTAASREKPEPEQGLHPDLASLAPLEIVPFEKASPQATVEVGGPGNLSPP
LPPAPPPPTPLEESTPVLLSKGGPEREDSSRKLRTDLYIDQLKSQDSPEISSLCQGEEAT
PRHSDKQNSKNAASEGKGCGFPSPTREVEIVSQEEEDVTHSVQEPSDCDEDDTVTDIAQH
GLEMVEPWEEPQWVTSPLHSPTLKDAHKAQVQGLQGHQLEKRLSHRPSLRQSHSLDSKPT
VKSQWTLEVPSSSSCANLETERNSDPLQPQAPRREITGWDEKALRSFREFSGLKGAEAPP
NQKGPSGVQPNPAETSPISLAEGKELGTHLGHSSPQIRQGGVPGPESSKESSPSVQDSTS
PGEHPAKLQLKSTECGPPKGKNRPSSLNLDPAIPIADLFWFENVASFSSPGMQVSEPGDP
KVTWMTSSYCKADPWRVYSQDPQDLDIVAHALTGRRNSAPVSVSAVRTSFMVKMCQARAV
PVIPPKIQYTQIPQPLPSQSSGENGVQPLERSQEGPSSTSGTTQKPAKDDSPSSLESSKE
EKPKQDPGAIKSSPVDATAPCMCEGPTLSPEPGSSNLLSTQDAVVQCRKRMSETEPSGDN
LLSSKLERPSGGSKPFHRSRPGRPQSLILFSPPFPIMDHLPPSSTVTDSKVLLSPIRSPT
QTVSPGLLCGELAENTWVTPEGVTLRNKMTIPKNGQRLETSTSCFYQPQRRSVILDGRSG
RQIE

Sequence length

1444

Interactions

View interactions

	Reactome
			Rho GTPase cycle

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
Adams-Oliver syndrome 1	Pathogenic	rs387907031, rs1559999373, rs1553768038	RCV000023842 RCV000023843 RCV000662241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Likely pathogenic	rs2107644554	RCV001796557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
Adams-Oliver syndrome	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARHGAP31-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (82)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	ORPHANET_DG	21565291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	BEFREE	24668619, 28446798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome	Adams-Oliver Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	21565291, 28160419, 29924900, 474617		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	21820096, 24668619, 25132448, 28446798, 29545927, 29924900		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CLINVAR_DG	29924900		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29924900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	21565291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	30486684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28446798, 29924900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita over posterior parietal area	Aplasia Cutis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21150878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31273438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	21651830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28135249, 29545927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	20190752, 22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	20190752, 22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital defect of skull and scalp	Aplasia cutis congenita	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28446798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17357071, 19706030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19706030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	BEFREE	28446798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29545927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	21565291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ 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
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25890262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28135249, 29545927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33655927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29799310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	28187331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	33655927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	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
Systemic Scleroderma	Scleroderma	GWASCAT_DG	31672989		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGAP31 (Rho GTPase activating protein 31)