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	10159
Gene name	ATPase H+ transporting accessory protein 2
Gene symbol	ATP6AP2
Synonyms (NCBI Gene)	(P)RRAPT6M8-9ATP6IP2ATP6M8-9CDG2RELDF10HT028M8-9MRXEMRXSHMSTP009PRRRENRXMREXPDS
Chromosome	X
Chromosome location	Xp11.4
Summary	This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH h

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918521	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs397518480	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1057519331	T>A	Pathogenic	Intron variant

281

Show/Hide all (281)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019402	hsa-miR-148b-3p	Microarray	17612493
MIRT029627	hsa-miR-26b-5p	Microarray	19088304
MIRT036463	hsa-miR-1226-3p	CLASH	23622248
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT109893	hsa-miR-140-3p	Luciferase reporter assayWestern blot	26722475
MIRT109893	hsa-miR-140-3p	Luciferase reporter assayWestern blot	26722475
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT808444	hsa-miR-128	CLIP-seq
MIRT808445	hsa-miR-1284	CLIP-seq
MIRT808446	hsa-miR-1296	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808449	hsa-miR-2909	CLIP-seq
MIRT808450	hsa-miR-298	CLIP-seq
MIRT808451	hsa-miR-3065-5p	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT808453	hsa-miR-3158-3p	CLIP-seq
MIRT808454	hsa-miR-3678-3p	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT808456	hsa-miR-3909	CLIP-seq
MIRT808457	hsa-miR-3942-3p	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT808460	hsa-miR-4282	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT808463	hsa-miR-4446-3p	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT808466	hsa-miR-4654	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT808468	hsa-miR-4699-3p	CLIP-seq
MIRT808469	hsa-miR-4753-3p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808471	hsa-miR-4768-5p	CLIP-seq
MIRT808472	hsa-miR-4769-5p	CLIP-seq
MIRT808473	hsa-miR-4799-5p	CLIP-seq
MIRT808474	hsa-miR-495	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT808477	hsa-miR-505	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT808481	hsa-miR-548ac	CLIP-seq
MIRT808482	hsa-miR-548ae	CLIP-seq
MIRT808483	hsa-miR-548aj	CLIP-seq
MIRT808484	hsa-miR-548am	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT808486	hsa-miR-548d-3p	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT808488	hsa-miR-548x	CLIP-seq
MIRT808489	hsa-miR-548z	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT808493	hsa-miR-759	CLIP-seq
MIRT808446	hsa-miR-1296	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808449	hsa-miR-2909	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT808453	hsa-miR-3158-3p	CLIP-seq
MIRT1938806	hsa-miR-340	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808456	hsa-miR-3909	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808460	hsa-miR-4282	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT808463	hsa-miR-4446-3p	CLIP-seq
MIRT1938809	hsa-miR-448	CLIP-seq
MIRT1938810	hsa-miR-4495	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT1938813	hsa-miR-4728-3p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT1938815	hsa-miR-548a-5p	CLIP-seq
MIRT1938816	hsa-miR-548ab	CLIP-seq
MIRT1938817	hsa-miR-548ak	CLIP-seq
MIRT1938818	hsa-miR-548b-5p	CLIP-seq
MIRT1938819	hsa-miR-548c-5p	CLIP-seq
MIRT1938820	hsa-miR-548d-5p	CLIP-seq
MIRT1938821	hsa-miR-548h	CLIP-seq
MIRT1938822	hsa-miR-548i	CLIP-seq
MIRT1938823	hsa-miR-548j	CLIP-seq
MIRT1938824	hsa-miR-548k	CLIP-seq
MIRT1938825	hsa-miR-548l	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT1938826	hsa-miR-548w	CLIP-seq
MIRT1938827	hsa-miR-548y	CLIP-seq
MIRT1938828	hsa-miR-559	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT2177947	hsa-miR-133a	CLIP-seq
MIRT2177948	hsa-miR-133b	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808450	hsa-miR-298	CLIP-seq
MIRT2177949	hsa-miR-3074-3p	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT808454	hsa-miR-3678-3p	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT1938809	hsa-miR-448	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT2177956	hsa-miR-4694-3p	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808474	hsa-miR-495	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT2177959	hsa-miR-522	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT2177961	hsa-miR-668	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481458	hsa-miR-1179	CLIP-seq
MIRT2481459	hsa-miR-1206	CLIP-seq
MIRT2481460	hsa-miR-1266	CLIP-seq
MIRT2481461	hsa-miR-1290	CLIP-seq
MIRT2481462	hsa-miR-147	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT2481463	hsa-miR-2113	CLIP-seq
MIRT2481464	hsa-miR-300	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT2481465	hsa-miR-338-5p	CLIP-seq
MIRT2481466	hsa-miR-3613-5p	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT2481467	hsa-miR-376a	CLIP-seq
MIRT2481468	hsa-miR-376b	CLIP-seq
MIRT2481469	hsa-miR-381	CLIP-seq
MIRT2481470	hsa-miR-382	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT808457	hsa-miR-3942-3p	CLIP-seq
MIRT2481471	hsa-miR-4270	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT2481472	hsa-miR-4436b-5p	CLIP-seq
MIRT2481473	hsa-miR-4441	CLIP-seq
MIRT2481474	hsa-miR-4457	CLIP-seq
MIRT2481475	hsa-miR-4503	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT2481476	hsa-miR-4518	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT2481477	hsa-miR-4659a-3p	CLIP-seq
MIRT2481478	hsa-miR-4659b-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2481479	hsa-miR-4666-3p	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT808468	hsa-miR-4699-3p	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT1938813	hsa-miR-4728-3p	CLIP-seq
MIRT2481480	hsa-miR-4778-3p	CLIP-seq
MIRT808473	hsa-miR-4799-5p	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT2481481	hsa-miR-508-5p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT2481482	hsa-miR-520d-5p	CLIP-seq
MIRT2481483	hsa-miR-524-5p	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT2481484	hsa-miR-568	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481485	hsa-miR-599	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT808493	hsa-miR-759	CLIP-seq
MIRT2481486	hsa-miR-802	CLIP-seq
MIRT2481487	hsa-miR-889	CLIP-seq
MIRT2481460	hsa-miR-1266	CLIP-seq
MIRT2481461	hsa-miR-1290	CLIP-seq
MIRT2481462	hsa-miR-147	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT2481463	hsa-miR-2113	CLIP-seq
MIRT2481464	hsa-miR-300	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT2481465	hsa-miR-338-5p	CLIP-seq
MIRT2481466	hsa-miR-3613-5p	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT2481469	hsa-miR-381	CLIP-seq
MIRT2481470	hsa-miR-382	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT2481471	hsa-miR-4270	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT2481472	hsa-miR-4436b-5p	CLIP-seq
MIRT2481473	hsa-miR-4441	CLIP-seq
MIRT2481474	hsa-miR-4457	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT2481476	hsa-miR-4518	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT2481477	hsa-miR-4659a-3p	CLIP-seq
MIRT2481478	hsa-miR-4659b-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2481479	hsa-miR-4666-3p	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT2481480	hsa-miR-4778-3p	CLIP-seq
MIRT2481481	hsa-miR-508-5p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT2481484	hsa-miR-568	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481485	hsa-miR-599	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT2481486	hsa-miR-802	CLIP-seq
MIRT2481487	hsa-miR-889	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	ISS
GO:0000421	Component	Autophagosome membrane	IEA
GO:0002003	Process	Angiotensin maturation	IDA	12045255, 15746149
GO:0005515	Function	Protein binding	IPI	12045255, 20093472, 29127204, 30374053, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	29127204
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	29127204
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	IMP	32276428
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	12045255, 15746149
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	ISS
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IMP	29127204, 30985297
GO:0021626	Process	Central nervous system maturation	IEA
GO:0021626	Process	Central nervous system maturation	IMP	30985297
GO:0021903	Process	Rostrocaudal neural tube patterning	IMP	20093472
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IBA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	20093472
GO:0030424	Component	Axon	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032914	Process	Positive regulation of transforming growth factor beta1 production	IDA	16374430
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043408	Process	Regulation of MAPK cascade	IDA	12045255, 15746149
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048069	Process	Eye pigmentation	IMP	20093472
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0060323	Process	Head morphogenesis	IMP	20093472
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	30374053
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	NAS	33065002

MIM	HGNC	e!Ensembl
300556	18305	ENSG00000182220

O75787

Protein name

Renin receptor (ATPase H(+)-transporting lysosomal accessory protein 2) (ATPase H(+)-transporting lysosomal-interacting protein 2) (ER-localized type I transmembrane adapter) (Embryonic liver differentiation factor 10) (N14F) (Renin/prorenin receptor) (Va

Protein function

Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, Pub

PDB

3LBS , 3LC8 , 6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07850	Renin_r	254 → 350	Renin receptor-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in

Sequence

MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSW
PGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEE
TPVVLQLAPSEERVYMVGKANSVFEDLSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVD
LLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDASKIL
VDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYN
FEYSVVFNMVLWIMIALALAVIITSYNIWNMDPGYDSIIYRMTNQKIRMD

Sequence length

350

Interactions

View interactions

	KEGG		Reactome
	Renin-angiotensin system		Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of glycosylation, type IIr	Pathogenic	rs1926621737	RCV001078440	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability Hedera type	Likely pathogenic; Pathogenic	rs2146543631, rs121918521, rs1926795050	RCV002272782 RCV000011548 RCV001078442	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked parkinsonism-spasticity syndrome	Pathogenic	rs397518480	RCV000074407	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
ATP6AP2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, WITH EPILEPSY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM WITH SPASTICITY, X-LINKED	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (148)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	28090037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23469216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31238566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	31238566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19580809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agraphesthesia	Agraphesthesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	25747895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21316680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	21316680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16893397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16893397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30302853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26079624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	30925093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19342371, 24621503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24759179, 35401936, 37993606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	19386802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	19386802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	27160552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23469216, 25747895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26722475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33820913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33916968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Alcoholic	Cardiomyopathy	BEFREE	31049135, 31498445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24621503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21228785, 28532817, 29101170, 30769036, 31049135, 31164719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23469216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30019932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	21157371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20385187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24601883, 30769036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	21795644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26074693, 30555158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30769036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	25668351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	25668351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21157371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28086762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31410134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17868789, 19917780, 20104654, 22684035, 31217373, 31406124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	30019932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17868789, 19917780, 20104654, 22684035, 28359068, 29050747, 31217373, 31406124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17540229, 27062013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	23116220, 30952701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35885938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17540229, 20385187, 28359068, 29056916, 31406124, 31800607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	23469216, 29575757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23469216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	30925093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31164719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27956412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35401936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Superficialis	Epidermolysis Bullosa	BEFREE	28450279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15746149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35779466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28059652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28059652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22802048, 35266851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28059652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	25503726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	25550784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	17494887, 17868789, 20104654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	19580809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	29621332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	29621332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30769036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	28840773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29351470, 31524252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17868789, 19580809, 19917780, 20104654, 21108514, 21157371, 22526255, 22684035, 23319541, 25421983, 27122543, 27160552, 28509726, 28814438, 29351470 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29621332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	29621332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31616976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29388887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	31091531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	33809946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	28624188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37231878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722, 35779466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29473106, 31196050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	24621503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17494887, 17540229, 20082625, 29846109, 30843967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25550784, 27228084, 37231878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	19641301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31164719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	20385187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21228785, 27160552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26058814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26722475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19342371, 24621503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27956412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26722475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31452834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30097713, 31164719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31410134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	15746149, 27160552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked, with Epilepsy	Mental Retardation with Epilepsy,X-Linked	GENOMICS_ENGLAND_DG	11782983, 23595882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, with Epilepsy	Mental Retardation with Epilepsy,X-Linked	ORPHANET_DG	15746149		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, with Epilepsy	Mental Retardation with Epilepsy,X-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, with Epilepsy	Mental Retardation with Epilepsy,X-Linked	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30819554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	BEFREE	31164719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	22507623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27613758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29102794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26261495, 27956412, 31123052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	30019932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35779466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29751779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	19342371, 24621503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25044950, 29301853, 30118514, 31164719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37231878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	29649379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30728905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35401936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	29995586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23595882, 27613758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23595882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	35779466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23595882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSONISM WITH SPASTICITY, X-LINKED	Parkinsonism-Spasticity Syndrome, X-Linked	BEFREE	23595882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM WITH SPASTICITY, X-LINKED	Parkinsonism-Spasticity Syndrome, X-Linked	ORPHANET_DG	23595882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM WITH SPASTICITY, X-LINKED	Parkinsonism-Spasticity Syndrome, X-Linked	GENOMICS_ENGLAND_DG	23595882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM WITH SPASTICITY, X-LINKED	Parkinsonism-Spasticity Syndrome, X-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONISM WITH SPASTICITY, X-LINKED	Parkinsonism-Spasticity Syndrome, X-Linked	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	29422602		★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29240802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	29240802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31452834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31616976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28632190, 29649379, 29660382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33513805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	31091531		★★★★★ ★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	28836875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	40187599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Hedera type	Mental Retardation, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked parkinsonism-spasticity syndrome	Parkinsonism-Spasticity Syndrome, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

ATP6AP2 (ATPase H+ transporting accessory protein 2)