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	139411
Gene name	Patched domain containing 1
Gene symbol	PTCHD1
Synonyms (NCBI Gene)	AUTSX4CXDELp22.11DELXP22.11SLC65C1
Chromosome	X
Chromosome location	Xp22.11
Summary	This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with in

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150186077	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs797044922	TGTTG>GAA	Pathogenic	Frameshift variant, coding sequence variant
rs878854360	C>-	Risk-factor	Frameshift variant, coding sequence variant
rs878854361	C>-	Risk-factor	Frameshift variant, coding sequence variant
rs879255587	->A	Risk-factor	Frameshift variant, coding sequence variant
rs886041610	T>A	Pathogenic	Stop gained, coding sequence variant
rs1057517808	AACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499778	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796945	T>C	Likely-pathogenic	Initiator codon variant, missense variant
rs1555912049	TGCACAGCAAAGAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555912102	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555912699	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555912737	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601914175	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601918200	->G	Likely-pathogenic	Coding sequence variant, frameshift variant

424

Show/Hide all (424)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021976	hsa-miR-128-3p	Microarray	17612493
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT608834	hsa-miR-4455	HITS-CLIP	23313552
MIRT608833	hsa-miR-3650	HITS-CLIP	23313552
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23313552
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23313552
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT608830	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT610228	hsa-miR-8485	HITS-CLIP	23313552
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT670233	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT670232	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT670231	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670230	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT670229	hsa-miR-6804-3p	HITS-CLIP	23824327
MIRT670228	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT670227	hsa-miR-663a	HITS-CLIP	23824327
MIRT670226	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT670225	hsa-miR-3178	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23824327
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23824327
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608830	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23824327
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608830	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT608841	hsa-miR-6840-3p	HITS-CLIP	24906430
MIRT608840	hsa-miR-1915-3p	HITS-CLIP	24906430
MIRT608839	hsa-miR-6764-5p	HITS-CLIP	24906430
MIRT608838	hsa-miR-4726-3p	HITS-CLIP	24906430
MIRT608837	hsa-miR-150-5p	HITS-CLIP	24906430
MIRT608836	hsa-miR-532-3p	HITS-CLIP	24906430
MIRT608835	hsa-miR-2116-3p	HITS-CLIP	24906430
MIRT608834	hsa-miR-4455	HITS-CLIP	24906430
MIRT608833	hsa-miR-3650	HITS-CLIP	24906430
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608831	hsa-miR-4713-5p	HITS-CLIP	24906430
MIRT608830	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT445411	hsa-miR-548a-3p	PAR-CLIP	22291592
MIRT445410	hsa-miR-548ar-3p	PAR-CLIP	22291592
MIRT445409	hsa-miR-548az-3p	PAR-CLIP	22291592
MIRT445408	hsa-miR-548e-3p	PAR-CLIP	22291592
MIRT445407	hsa-miR-548f-3p	PAR-CLIP	22291592
MIRT445406	hsa-miR-5582-3p	PAR-CLIP	22291592
MIRT445405	hsa-miR-548n	PAR-CLIP	22291592
MIRT445404	hsa-miR-548a-5p	PAR-CLIP	22291592
MIRT445403	hsa-miR-548ab	PAR-CLIP	22291592
MIRT445402	hsa-miR-548ad-5p	PAR-CLIP	22291592
MIRT445401	hsa-miR-548ae-5p	PAR-CLIP	22291592
MIRT445400	hsa-miR-548ak	PAR-CLIP	22291592
MIRT445399	hsa-miR-548am-5p	PAR-CLIP	22291592
MIRT445398	hsa-miR-548ap-5p	PAR-CLIP	22291592
MIRT445397	hsa-miR-548aq-5p	PAR-CLIP	22291592
MIRT445396	hsa-miR-548ar-5p	PAR-CLIP	22291592
MIRT445395	hsa-miR-548as-5p	PAR-CLIP	22291592
MIRT445394	hsa-miR-548au-5p	PAR-CLIP	22291592
MIRT445393	hsa-miR-548ay-5p	PAR-CLIP	22291592
MIRT445392	hsa-miR-548b-5p	PAR-CLIP	22291592
MIRT445391	hsa-miR-548bb-5p	PAR-CLIP	22291592
MIRT445390	hsa-miR-548c-5p	PAR-CLIP	22291592
MIRT445389	hsa-miR-548d-5p	PAR-CLIP	22291592
MIRT445388	hsa-miR-548h-5p	PAR-CLIP	22291592
MIRT445387	hsa-miR-548i	PAR-CLIP	22291592
MIRT445386	hsa-miR-548j-5p	PAR-CLIP	22291592
MIRT445385	hsa-miR-548o-5p	PAR-CLIP	22291592
MIRT445384	hsa-miR-548w	PAR-CLIP	22291592
MIRT445383	hsa-miR-548y	PAR-CLIP	22291592
MIRT445382	hsa-miR-559	PAR-CLIP	22291592
MIRT445381	hsa-miR-3613-3p	PAR-CLIP	22291592
MIRT445411	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT445410	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT445409	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT445408	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT445407	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT445406	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445405	hsa-miR-548n	PAR-CLIP	22100165
MIRT445404	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT445403	hsa-miR-548ab	PAR-CLIP	22100165
MIRT445402	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT445401	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT445400	hsa-miR-548ak	PAR-CLIP	22100165
MIRT445399	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT445398	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT445397	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT445396	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT445395	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT445394	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT445393	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT445392	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT445391	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT445390	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT445389	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT445388	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT445387	hsa-miR-548i	PAR-CLIP	22100165
MIRT445386	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT445385	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT445384	hsa-miR-548w	PAR-CLIP	22100165
MIRT445383	hsa-miR-548y	PAR-CLIP	22100165
MIRT445382	hsa-miR-559	PAR-CLIP	22100165
MIRT445381	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442747	hsa-miR-18a-5p	PAR-CLIP	22100165
MIRT442746	hsa-miR-18b-5p	PAR-CLIP	22100165
MIRT442744	hsa-miR-4735-3p	PAR-CLIP	22100165
MIRT608837	hsa-miR-150-5p	HITS-CLIP	27418678
MIRT608840	hsa-miR-1915-3p	HITS-CLIP	27418678
MIRT608835	hsa-miR-2116-3p	HITS-CLIP	27418678
MIRT670225	hsa-miR-3178	HITS-CLIP	27418678
MIRT608833	hsa-miR-3650	HITS-CLIP	27418678
MIRT608834	hsa-miR-4455	HITS-CLIP	27418678
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT608831	hsa-miR-4713-5p	HITS-CLIP	27418678
MIRT608838	hsa-miR-4726-3p	HITS-CLIP	27418678
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	27418678
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	27418678
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	27418678
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	27418678
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	27418678
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT608836	hsa-miR-532-3p	HITS-CLIP	27418678
MIRT608830	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT670231	hsa-miR-6499-5p	HITS-CLIP	27418678
MIRT608839	hsa-miR-6764-5p	HITS-CLIP	27418678
MIRT608841	hsa-miR-6840-3p	HITS-CLIP	27418678
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT610228	hsa-miR-8485	HITS-CLIP	27418678
MIRT610228	hsa-miR-8485	HITS-CLIP	27418678
MIRT610228	hsa-miR-8485	HITS-CLIP	27418678
MIRT610228	hsa-miR-8485	HITS-CLIP	27418678
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT608834	hsa-miR-4455	HITS-CLIP	23313552
MIRT608833	hsa-miR-3650	HITS-CLIP	23313552
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23313552
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23313552
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT608830	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT610228	hsa-miR-8485	HITS-CLIP	23313552
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT670233	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT670232	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT670231	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670230	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT670229	hsa-miR-6804-3p	HITS-CLIP	23824327
MIRT670228	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT670227	hsa-miR-663a	HITS-CLIP	23824327
MIRT670226	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT670225	hsa-miR-3178	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23824327
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23824327
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608830	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT627811	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT627810	hsa-miR-4796-5p	HITS-CLIP	23824327
MIRT627809	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608832	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608830	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT610228	hsa-miR-8485	HITS-CLIP	23824327
MIRT445411	hsa-miR-548a-3p	PAR-CLIP	22291592
MIRT445410	hsa-miR-548ar-3p	PAR-CLIP	22291592
MIRT445409	hsa-miR-548az-3p	PAR-CLIP	22291592
MIRT445408	hsa-miR-548e-3p	PAR-CLIP	22291592
MIRT445407	hsa-miR-548f-3p	PAR-CLIP	22291592
MIRT445406	hsa-miR-5582-3p	PAR-CLIP	22291592
MIRT445405	hsa-miR-548n	PAR-CLIP	22291592
MIRT445404	hsa-miR-548a-5p	PAR-CLIP	22291592
MIRT445403	hsa-miR-548ab	PAR-CLIP	22291592
MIRT445402	hsa-miR-548ad-5p	PAR-CLIP	22291592
MIRT445401	hsa-miR-548ae-5p	PAR-CLIP	22291592
MIRT445400	hsa-miR-548ak	PAR-CLIP	22291592
MIRT445399	hsa-miR-548am-5p	PAR-CLIP	22291592
MIRT445398	hsa-miR-548ap-5p	PAR-CLIP	22291592
MIRT445397	hsa-miR-548aq-5p	PAR-CLIP	22291592
MIRT445396	hsa-miR-548ar-5p	PAR-CLIP	22291592
MIRT445395	hsa-miR-548as-5p	PAR-CLIP	22291592
MIRT445394	hsa-miR-548au-5p	PAR-CLIP	22291592
MIRT445393	hsa-miR-548ay-5p	PAR-CLIP	22291592
MIRT445392	hsa-miR-548b-5p	PAR-CLIP	22291592
MIRT445391	hsa-miR-548bb-5p	PAR-CLIP	22291592
MIRT445390	hsa-miR-548c-5p	PAR-CLIP	22291592
MIRT445389	hsa-miR-548d-5p	PAR-CLIP	22291592
MIRT445388	hsa-miR-548h-5p	PAR-CLIP	22291592
MIRT445387	hsa-miR-548i	PAR-CLIP	22291592
MIRT445386	hsa-miR-548j-5p	PAR-CLIP	22291592
MIRT445385	hsa-miR-548o-5p	PAR-CLIP	22291592
MIRT445384	hsa-miR-548w	PAR-CLIP	22291592
MIRT445383	hsa-miR-548y	PAR-CLIP	22291592
MIRT445382	hsa-miR-559	PAR-CLIP	22291592
MIRT445381	hsa-miR-3613-3p	PAR-CLIP	22291592
MIRT445411	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT445410	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT445409	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT445408	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT445407	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT445406	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445405	hsa-miR-548n	PAR-CLIP	22100165
MIRT445404	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT445403	hsa-miR-548ab	PAR-CLIP	22100165
MIRT445402	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT445401	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT445400	hsa-miR-548ak	PAR-CLIP	22100165
MIRT445399	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT445398	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT445397	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT445396	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT445395	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT445394	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT445393	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT445392	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT445391	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT445390	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT445389	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT445388	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT445387	hsa-miR-548i	PAR-CLIP	22100165
MIRT445386	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT445385	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT445384	hsa-miR-548w	PAR-CLIP	22100165
MIRT445383	hsa-miR-548y	PAR-CLIP	22100165
MIRT445382	hsa-miR-559	PAR-CLIP	22100165
MIRT445381	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442747	hsa-miR-18a-5p	PAR-CLIP	22100165
MIRT442746	hsa-miR-18b-5p	PAR-CLIP	22100165
MIRT442744	hsa-miR-4735-3p	PAR-CLIP	22100165
MIRT1272148	hsa-miR-124	CLIP-seq
MIRT1272149	hsa-miR-1261	CLIP-seq
MIRT1272150	hsa-miR-140-3p	CLIP-seq
MIRT1272151	hsa-miR-144	CLIP-seq
MIRT1272152	hsa-miR-21	CLIP-seq
MIRT1272153	hsa-miR-27a	CLIP-seq
MIRT1272154	hsa-miR-27b	CLIP-seq
MIRT1272155	hsa-miR-3117-5p	CLIP-seq
MIRT1272156	hsa-miR-3120-3p	CLIP-seq
MIRT1272157	hsa-miR-3124-3p	CLIP-seq
MIRT1272158	hsa-miR-3180-5p	CLIP-seq
MIRT1272159	hsa-miR-320a	CLIP-seq
MIRT1272160	hsa-miR-320b	CLIP-seq
MIRT1272161	hsa-miR-320c	CLIP-seq
MIRT1272162	hsa-miR-320d	CLIP-seq
MIRT1272163	hsa-miR-320e	CLIP-seq
MIRT1272164	hsa-miR-3665	CLIP-seq
MIRT1272165	hsa-miR-370	CLIP-seq
MIRT1272166	hsa-miR-3714	CLIP-seq
MIRT1272167	hsa-miR-371-5p	CLIP-seq
MIRT1272168	hsa-miR-3910	CLIP-seq
MIRT1272169	hsa-miR-3934	CLIP-seq
MIRT1272170	hsa-miR-4330	CLIP-seq
MIRT1272171	hsa-miR-4429	CLIP-seq
MIRT1272172	hsa-miR-4463	CLIP-seq
MIRT1272173	hsa-miR-4494	CLIP-seq
MIRT1272174	hsa-miR-4661-3p	CLIP-seq
MIRT1272175	hsa-miR-4662a-3p	CLIP-seq
MIRT1272176	hsa-miR-4771	CLIP-seq
MIRT1272177	hsa-miR-4795-3p	CLIP-seq
MIRT1272178	hsa-miR-506	CLIP-seq
MIRT1272179	hsa-miR-513a-5p	CLIP-seq
MIRT1272180	hsa-miR-520a-5p	CLIP-seq
MIRT1272181	hsa-miR-525-5p	CLIP-seq
MIRT1272182	hsa-miR-545	CLIP-seq
MIRT1272183	hsa-miR-548aa	CLIP-seq
MIRT1272184	hsa-miR-548an	CLIP-seq
MIRT1272185	hsa-miR-590-5p	CLIP-seq
MIRT1272186	hsa-miR-591	CLIP-seq
MIRT1272187	hsa-miR-654-3p	CLIP-seq
MIRT1272188	hsa-miR-940	CLIP-seq
MIRT2080019	hsa-miR-1271	CLIP-seq
MIRT2080020	hsa-miR-150	CLIP-seq
MIRT2080021	hsa-miR-182	CLIP-seq
MIRT2080022	hsa-miR-1915	CLIP-seq
MIRT2080023	hsa-miR-205	CLIP-seq
MIRT2080024	hsa-miR-3647-3p	CLIP-seq
MIRT2080025	hsa-miR-96	CLIP-seq
MIRT2306274	hsa-miR-105	CLIP-seq
MIRT2306275	hsa-miR-1184	CLIP-seq
MIRT2306276	hsa-miR-1205	CLIP-seq
MIRT2306277	hsa-miR-1206	CLIP-seq
MIRT2306278	hsa-miR-1238	CLIP-seq
MIRT2306279	hsa-miR-1272	CLIP-seq
MIRT2306280	hsa-miR-1297	CLIP-seq
MIRT1272151	hsa-miR-144	CLIP-seq
MIRT2306281	hsa-miR-1976	CLIP-seq
MIRT2080023	hsa-miR-205	CLIP-seq
MIRT2306282	hsa-miR-26a	CLIP-seq
MIRT2306283	hsa-miR-26b	CLIP-seq
MIRT2306284	hsa-miR-298	CLIP-seq
MIRT2306285	hsa-miR-302a	CLIP-seq
MIRT2306286	hsa-miR-302b	CLIP-seq
MIRT2306287	hsa-miR-302c	CLIP-seq
MIRT2306288	hsa-miR-302d	CLIP-seq
MIRT2306289	hsa-miR-302e	CLIP-seq
MIRT1272155	hsa-miR-3117-5p	CLIP-seq
MIRT1272156	hsa-miR-3120-3p	CLIP-seq
MIRT2306290	hsa-miR-3140-3p	CLIP-seq
MIRT2306291	hsa-miR-3145-3p	CLIP-seq
MIRT2306292	hsa-miR-3148	CLIP-seq
MIRT2306293	hsa-miR-3157-3p	CLIP-seq
MIRT2306294	hsa-miR-3158-5p	CLIP-seq
MIRT2306295	hsa-miR-3169	CLIP-seq
MIRT1272163	hsa-miR-320e	CLIP-seq
MIRT2306296	hsa-miR-335	CLIP-seq
MIRT2306297	hsa-miR-3614-3p	CLIP-seq
MIRT2080024	hsa-miR-3647-3p	CLIP-seq
MIRT2306298	hsa-miR-3671	CLIP-seq
MIRT2306299	hsa-miR-372	CLIP-seq
MIRT2306300	hsa-miR-373	CLIP-seq
MIRT2306301	hsa-miR-4255	CLIP-seq
MIRT2306302	hsa-miR-4264	CLIP-seq
MIRT2306303	hsa-miR-4276	CLIP-seq
MIRT2306304	hsa-miR-4292	CLIP-seq
MIRT2306305	hsa-miR-4302	CLIP-seq
MIRT2306306	hsa-miR-4308	CLIP-seq
MIRT2306307	hsa-miR-4311	CLIP-seq
MIRT2306308	hsa-miR-4328	CLIP-seq
MIRT2306309	hsa-miR-4436a	CLIP-seq
MIRT2306310	hsa-miR-4465	CLIP-seq
MIRT2306311	hsa-miR-4480	CLIP-seq
MIRT1272175	hsa-miR-4662a-3p	CLIP-seq
MIRT2306312	hsa-miR-4691-5p	CLIP-seq
MIRT2306313	hsa-miR-4722-3p	CLIP-seq
MIRT2306314	hsa-miR-4797-3p	CLIP-seq
MIRT2306315	hsa-miR-498	CLIP-seq
MIRT2306316	hsa-miR-512-3p	CLIP-seq
MIRT2306317	hsa-miR-520a-3p	CLIP-seq
MIRT2306318	hsa-miR-520b	CLIP-seq
MIRT2306319	hsa-miR-520c-3p	CLIP-seq
MIRT2306320	hsa-miR-520d-3p	CLIP-seq
MIRT2306321	hsa-miR-520e	CLIP-seq
MIRT1272182	hsa-miR-545	CLIP-seq
MIRT2306322	hsa-miR-579	CLIP-seq
MIRT2306323	hsa-miR-587	CLIP-seq
MIRT2306324	hsa-miR-607	CLIP-seq
MIRT1272187	hsa-miR-654-3p	CLIP-seq
MIRT2306325	hsa-miR-671-5p	CLIP-seq
MIRT2306326	hsa-miR-874	CLIP-seq
MIRT2306327	hsa-miR-938	CLIP-seq
MIRT2080023	hsa-miR-205	CLIP-seq
MIRT2306275	hsa-miR-1184	CLIP-seq
MIRT2306276	hsa-miR-1205	CLIP-seq
MIRT1272148	hsa-miR-124	CLIP-seq
MIRT1272149	hsa-miR-1261	CLIP-seq
MIRT2306294	hsa-miR-3158-5p	CLIP-seq
MIRT1272166	hsa-miR-3714	CLIP-seq
MIRT1272168	hsa-miR-3910	CLIP-seq
MIRT1272178	hsa-miR-506	CLIP-seq
MIRT2306275	hsa-miR-1184	CLIP-seq
MIRT2306276	hsa-miR-1205	CLIP-seq
MIRT1272148	hsa-miR-124	CLIP-seq
MIRT1272149	hsa-miR-1261	CLIP-seq
MIRT2306294	hsa-miR-3158-5p	CLIP-seq
MIRT1272166	hsa-miR-3714	CLIP-seq
MIRT1272168	hsa-miR-3910	CLIP-seq
MIRT1272178	hsa-miR-506	CLIP-seq
MIRT2465928	hsa-miR-3978	CLIP-seq
MIRT2465929	hsa-miR-586	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20844286
GO:0005886	Component	Plasma membrane	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007224	Process	Smoothened signaling pathway	IDA	20844286
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007614	Process	Short-term memory	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0016020	Component	Membrane	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021794	Process	Thalamus development	ISS
GO:0023052	Process	Signaling	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IDA	33856728
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0050890	Process	Cognition	IBA
GO:0050890	Process	Cognition	IEA
GO:0050890	Process	Cognition	IMP	20844286
GO:0098976	Process	Excitatory chemical synaptic transmission	IEA
GO:0098977	Process	Inhibitory chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
300828	26392	ENSG00000165186

Q96NR3

Protein name

Patched domain-containing protein 1

Protein function

Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02460	Patched	49 → 851	Patched family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland. {ECO:0000269|PubMed:20844286}.

Sequence

MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQH
SLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHA
AVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHL
KDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLF
QKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLG
LLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHV
KERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYES
HLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIE
YTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNV
STGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREE
LYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVAD
SLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKD
FTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFA
ILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV

Sequence length

888

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1922524280	RCV001252599	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, susceptibility to, X-linked 4	Likely pathogenic; Pathogenic	rs751692491, rs2518766952, rs2518767420, rs2518766477, rs1555912102	RCV001650488 RCV002286475 RCV003227586 RCV003236647 RCV004594827 RCV000500682 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1569130365	RCV001374406	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic X-linked intellectual disability	Likely pathogenic	rs1922892999	RCV001265487	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2518760163	RCV001256994	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTCHD1-related autism and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTCHD1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTCHD1-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT RESISTANT DEPRESSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ 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
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27007844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27007844, 31515500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18252227, 25782667, 31540669, 36635662, 38007613, 38275824	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18252227, 20844286, 21439084, 22228009, 25131214, 25782667, 27007844, 28416808, 31515500, 31540669		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	18252227, 20844286		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	25131214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	20531469, 21439084, 31540669, 36635662, 38007613	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	21091464, 21114665, 29118110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	21091464		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31817155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38007613, 38275824	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	BEFREE	25131214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36232772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31957018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28416808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20655035, 25782667, 36635662, 38007613, 38275824	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	20844286, 21091464, 25131214, 25782667, 27007844, 28416808, 31515500		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	20844286		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	20844286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	21091464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	20844286, 21091464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	20844286, 25131214, 25356970, 26350204, 27007844		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	20844286, 21091464, 23871722, 25131214, 25782667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21091464, 25131214, 28416808, 29118110, 31515500, 31540669		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	31540669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36232772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	20844286, 25131214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	20844286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PTCHD1 (patched domain containing 1)