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	9758
Gene name	FERM and PDZ domain containing 4
Gene symbol	FRMPD4
Synonyms (NCBI Gene)	MRX104PDZD10PDZK10XLID104
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of ex

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41303149	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs140515130	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs151079505	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs886038208	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038209	T>C	Pathogenic	Missense variant, coding sequence variant
rs1569057837	C>T	Pathogenic	Coding sequence variant, stop gained

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045327	hsa-miR-185-5p	CLASH	23622248
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT573809	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT573808	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT573807	hsa-miR-519d-5p	PAR-CLIP	20371350
MIRT573806	hsa-miR-5695	PAR-CLIP	20371350
MIRT573805	hsa-miR-7515	PAR-CLIP	20371350
MIRT573803	hsa-miR-3179	PAR-CLIP	20371350
MIRT573804	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT573802	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT573801	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT573800	hsa-miR-6864-5p	PAR-CLIP	20371350
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT623892	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT623891	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623890	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623889	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT623888	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT623887	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT623886	hsa-miR-4469	HITS-CLIP	23824327
MIRT623885	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623884	hsa-miR-1268a	HITS-CLIP	23824327
MIRT623883	hsa-miR-1268b	HITS-CLIP	23824327
MIRT623882	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623881	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623880	hsa-miR-4279	HITS-CLIP	23824327
MIRT573809	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT573808	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT573807	hsa-miR-519d-5p	PAR-CLIP	20371350
MIRT573806	hsa-miR-5695	PAR-CLIP	20371350
MIRT573805	hsa-miR-7515	PAR-CLIP	20371350
MIRT573803	hsa-miR-3179	PAR-CLIP	20371350
MIRT573804	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT573802	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT573801	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT573800	hsa-miR-6864-5p	PAR-CLIP	20371350
MIRT1004868	hsa-miR-1269	CLIP-seq
MIRT1004869	hsa-miR-1269b	CLIP-seq
MIRT1004870	hsa-miR-1273g	CLIP-seq
MIRT1004871	hsa-miR-1288	CLIP-seq
MIRT1004872	hsa-miR-1298	CLIP-seq
MIRT1004873	hsa-miR-3121-5p	CLIP-seq
MIRT1004874	hsa-miR-3123	CLIP-seq
MIRT1004875	hsa-miR-3124-3p	CLIP-seq
MIRT1004876	hsa-miR-3133	CLIP-seq
MIRT1004877	hsa-miR-3143	CLIP-seq
MIRT1004878	hsa-miR-3144-5p	CLIP-seq
MIRT1004879	hsa-miR-3145-5p	CLIP-seq
MIRT1004880	hsa-miR-3152-5p	CLIP-seq
MIRT1004881	hsa-miR-3191	CLIP-seq
MIRT1004882	hsa-miR-323-5p	CLIP-seq
MIRT1004883	hsa-miR-3646	CLIP-seq
MIRT1004884	hsa-miR-3649	CLIP-seq
MIRT1004885	hsa-miR-3659	CLIP-seq
MIRT1004886	hsa-miR-371-5p	CLIP-seq
MIRT1004887	hsa-miR-371b-5p	CLIP-seq
MIRT1004888	hsa-miR-374a	CLIP-seq
MIRT1004889	hsa-miR-374b	CLIP-seq
MIRT1004890	hsa-miR-3942-5p	CLIP-seq
MIRT1004891	hsa-miR-4252	CLIP-seq
MIRT1004892	hsa-miR-4477a	CLIP-seq
MIRT1004893	hsa-miR-4511	CLIP-seq
MIRT1004894	hsa-miR-4515	CLIP-seq
MIRT1004895	hsa-miR-4517	CLIP-seq
MIRT1004896	hsa-miR-4652-5p	CLIP-seq
MIRT1004897	hsa-miR-4658	CLIP-seq
MIRT1004898	hsa-miR-4667-5p	CLIP-seq
MIRT1004899	hsa-miR-4700-5p	CLIP-seq
MIRT1004900	hsa-miR-4703-5p	CLIP-seq
MIRT1004901	hsa-miR-4729	CLIP-seq
MIRT1004902	hsa-miR-4740-5p	CLIP-seq
MIRT1004903	hsa-miR-4758-5p	CLIP-seq
MIRT1004904	hsa-miR-4769-3p	CLIP-seq
MIRT1004905	hsa-miR-4775	CLIP-seq
MIRT1004906	hsa-miR-4795-3p	CLIP-seq
MIRT1004907	hsa-miR-513c	CLIP-seq
MIRT1004908	hsa-miR-514b-5p	CLIP-seq
MIRT1004909	hsa-miR-520a-5p	CLIP-seq
MIRT1004910	hsa-miR-525-5p	CLIP-seq
MIRT1004911	hsa-miR-543	CLIP-seq
MIRT1004912	hsa-miR-556-5p	CLIP-seq
MIRT1004913	hsa-miR-563	CLIP-seq
MIRT1004914	hsa-miR-574-5p	CLIP-seq
MIRT1004915	hsa-miR-579	CLIP-seq
MIRT1004916	hsa-miR-590-3p	CLIP-seq
MIRT1004917	hsa-miR-664	CLIP-seq
MIRT1004918	hsa-miR-876-3p	CLIP-seq
MIRT1004919	hsa-miR-889	CLIP-seq
MIRT1920447	hsa-miR-325	CLIP-seq
MIRT1920448	hsa-miR-4635	CLIP-seq
MIRT1920449	hsa-miR-4760-3p	CLIP-seq
MIRT1920450	hsa-miR-526b	CLIP-seq
MIRT1920451	hsa-miR-628-3p	CLIP-seq
MIRT1997899	hsa-miR-1323	CLIP-seq
MIRT1997900	hsa-miR-3691-3p	CLIP-seq
MIRT1997901	hsa-miR-4699-3p	CLIP-seq
MIRT1997902	hsa-miR-4796-5p	CLIP-seq
MIRT1997903	hsa-miR-4803	CLIP-seq
MIRT1997904	hsa-miR-548o	CLIP-seq
MIRT1997905	hsa-miR-549	CLIP-seq
MIRT1997906	hsa-miR-601	CLIP-seq
MIRT1997907	hsa-miR-627	CLIP-seq
MIRT1997908	hsa-miR-628-5p	CLIP-seq
MIRT2231493	hsa-miR-135a	CLIP-seq
MIRT2231494	hsa-miR-135b	CLIP-seq
MIRT2231495	hsa-miR-3128	CLIP-seq
MIRT2231496	hsa-miR-3146	CLIP-seq
MIRT2231497	hsa-miR-34c-3p	CLIP-seq
MIRT2231498	hsa-miR-3622b-5p	CLIP-seq
MIRT2231499	hsa-miR-3663-3p	CLIP-seq
MIRT2231500	hsa-miR-4269	CLIP-seq
MIRT2231501	hsa-miR-4323	CLIP-seq
MIRT2231502	hsa-miR-4509	CLIP-seq
MIRT2231503	hsa-miR-4639-3p	CLIP-seq
MIRT2231504	hsa-miR-4720-5p	CLIP-seq
MIRT2231505	hsa-miR-4744	CLIP-seq
MIRT2231506	hsa-miR-4799-3p	CLIP-seq
MIRT2231507	hsa-miR-548ac	CLIP-seq
MIRT2231508	hsa-miR-548d-3p	CLIP-seq
MIRT2231509	hsa-miR-548p	CLIP-seq
MIRT2231510	hsa-miR-548z	CLIP-seq
MIRT1997907	hsa-miR-627	CLIP-seq
MIRT2231511	hsa-miR-659	CLIP-seq
MIRT2231512	hsa-miR-676	CLIP-seq
MIRT2388216	hsa-miR-1273f	CLIP-seq
MIRT2388217	hsa-miR-143	CLIP-seq
MIRT2388218	hsa-miR-3200-5p	CLIP-seq
MIRT2388219	hsa-miR-4251	CLIP-seq
MIRT2388220	hsa-miR-4329	CLIP-seq
MIRT2388221	hsa-miR-4663	CLIP-seq
MIRT2388222	hsa-miR-4679	CLIP-seq
MIRT2388223	hsa-miR-4708-5p	CLIP-seq
MIRT2388224	hsa-miR-4728-3p	CLIP-seq
MIRT2388225	hsa-miR-4770	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19118189, 22074847, 24550280, 29267967, 30126976
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	19118189
GO:0008289	Function	Lipid binding	IEA
GO:0032991	Component	Protein-containing complex	IDA	22074847
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IDA	19118189
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0051835	Process	Positive regulation of synapse structural plasticity	IMP	19118189
GO:0098794	Component	Postsynapse	IEA

MIM	HGNC	e!Ensembl
300838	29007	ENSG00000169933

Q14CM0

Protein name

FERM and PDZ domain-containing protein 4 (PDZ domain-containing protein 10) (PSD-95-interacting regulator of spine morphogenesis) (Preso)

Protein function

Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

PDB

4WND , 4WNE , 4WNF , 4WNG , 7BYJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	78 → 152	PDZ domain	Domain
PF00373	FERM_M	294 → 424	FERM central domain	Domain

Sequence

MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIP
FDDPRLESCQIIPPAPRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQI
VMINDEPVSAAPRERVIDLVRSCKESILLTVIQPYPSPKSAFISAAKKARLKSNPVKVRF
SEEVIINGQVSETVKDNSLLFMPNVLKVYLENGQTKSFRFDCSTSIKDVILTLQEKLSIK
GIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHKMRCLFRISFVPKDPIDLLRR
DPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQKISLKYIEKEW
GLETFLPSAVLQSMKEKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYG
GRVFKATLVQAEKRSEVTLLVGPRYGISHVINTKTNLVALLADFSHVNRIEMFSEEESLV
RVELHVLDVKPITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNMANKKNTATQETGPEN
KGKHNLLGPDWNCIPQMTTFIGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNA
YSSDGLNQQLSQPGEAPCEADYRSLAQRSLLTLSGPETLKKAQESPRGAKVSFIFGDFAL
DDGISPPTLGYETLLDEGPEMLEKQRNLYIGSANDMKGLDLTPEAEGIQFVENSVYANIG
DVKSFQAAEGIEEPLLHDICYAENTDDAEDEDEVSCEEDLVVGEMNQPAILNLSGSSDDI
IDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQSQAASFPEDKEKGSSL
QNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYS
PESSSDSGNETNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPA
GGLPPKSSHALAARPATDLPPKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVA
YSCTSKRKSKLADGEGKAPPNGNTTGKKQQGTKTAEMEEEASGKFGTVSSRDSQHLSTFN
LERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASGLGAREAEGKEEGAPDGETSD
GSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARLCDYHLAKRMS
SLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIP
SEERAPGLPNHGATFKELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKET
TV

Sequence length

1322

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability, X-linked 104	Likely pathogenic; Pathogenic	rs2147144421, rs2519751886, rs2519861850, rs886038208, rs886038209, rs2519859595, rs747574742, rs2519807297, rs2519857290, rs2041899970, rs1569057837, rs2041898606	RCV001775360 RCV002289082 RCV003153047 RCV000247605 RCV000252374 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147174292	RCV002274338	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2060108128	RCV005913651	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism, susceptibility to, X-linked 4	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRMPD4-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTATOR CUFF TEAR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ 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 (38)

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 hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37330374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37330374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37330374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	29267967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ 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	23871722, 29267967, 37330374, 38562040	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25644381, 29267967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	29267967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	38562040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	38562040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	29267967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	38562040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	25644381		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 104	Mental Retardation, X-Linked	UNIPROT_DG	25644381		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 104	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	29267967		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 104	Mental Retardation, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 104	Mental Retardation, X-Linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
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
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26555035		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	29267967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	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

FRMPD4 (FERM and PDZ domain containing 4)