Genes associated with “intellectual disability

1540 genes foundHPO: Intellectual disabilityOpen Targets: Intellectual disability1 PanelApp panel
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

126 genes
1
POGZ

pogo transposable element derived with ZNF domain

68
score
ClinGen: DefinitivePanel: GreenGTR ↑

Intellectual disability

Frequency
97%
n=91
P/LP Variants
3
OT Score
0.63
2
AHDC1

AT-hook DNA binding motif containing 1

58
score
ClinGen: DefinitivePanel: GreenGTR ↑

Severe intellectual disability

Frequency
40%
n=15
P/LP Variants
5
OT Score
0.71
55
score
ClinGen: DefinitivePanel: GreenGTR ↑

Intellectual disability

Frequency
96%
n=26
P/LP Variants
5
OT Score
-
4
MED13L

mediator complex subunit 13L

54
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
6
OT Score
0.67
5
DDX3X

DEAD-box helicase 3 X-linked

53
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
4
OT Score
0.63
6
KAT6A

lysine acetyltransferase 6A

52
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
4
OT Score
0.58
7
CTCF

CCCTC-binding factor

50
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.66
50
score
ClinGen: DefinitivePanel: GreenP2G #2GTR ↑

Intellectual disability

Frequency
100%
n=47
P/LP Variants
21
OT Score
-
9
MYT1L

myelin transcription factor 1 like

39
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.61
39KIF11
DefP:G
39PPP2R1A
DefP:G

Severe intellectual disability

38CASK
DefP:G
38SLC6A8
DefP:G

solute carrier family 6 member 8

38KMT2C
DefP:G

lysine methyltransferase 2C

37NAA15
DefP:G
36CSNK2A1
DefP:G
36SLC2A1
DefP:G

solute carrier family 2 member 1

36GNB1
DefP:G

Intellectual disability

36SYNGAP1
DefP:G

synaptic Ras GTPase activating protein 1

36IQSEC2
DefP:G

IQ motif and Sec7 domain ArfGEF 2

35BRWD3
DefP:G
35FOXP1
DefP:G
35IL1RAPL1
DefP:G
35OPHN1
DefP:G
35SMS
DefP:G
35MED12
DefP:G
34STXBP1
DefP:G

syntaxin binding protein 1

34CIC
DefP:G

capicua transcriptional repressor

33ATRX
DefP:G
33ADNP
DefP:G
33GATAD2B
DefP:G
33PHF8
DefP:G
33RAB39B
DefP:G
33SIN3A
DefP:G
32OFD1
DefP:G#7

Severe intellectual disability

32TCF20
DefP:G

transcription factor 20

32HUWE1
DefP:G
32SMARCA2
DefP:G
32MECP2
DefP:G

Intellectual disability

31SET
DefP:G
31USP9X
DefP:G
31KMT2E
DefP:G

lysine methyltransferase 2E (inactive)

31JARID2
DefP:G

Intellectual disability

30VLDLR
DefP:G
30PIDD1
DefP:G

p53-induced death domain protein 1

30TBL1XR1
DefP:G
30EP300
DefP:G#14
30GMPPA
DefP:G

Intellectual disability

29ZMYND11
DefP:G

zinc finger MYND-type containing 11

29KANSL1
DefP:G

KAT8 regulatory NSL complex subunit 1

28ASPM
DefP:G

Intellectual disability

28RPS6KA3
DefP:G#17
28ATP8A2
DefP:G
28PGAP3
DefP:G
28CREBBP
DefP:G
28CAMK2A
DefP:G

calcium/calmodulin dependent protein kinase II alpha

28VAMP2
P:G

Intellectual disability

28SHANK3
DefP:G
28STX1A
P:G

syntaxin 1A

27CDK13
DefP:G
27CLCN4
DefP:G
27ASXL3
DefP:G
27SETD5
DefP:G
27BCL11B
DefP:G

Intellectual disability

27ELN
DefP:R#3
27SATB1
DefP:G

Intellectual disability

26PDHA1
DefP:G

Intellectual disability

26BRAF
DefP:G

Intellectual disability

26IKBKG
DefP:G#19
26GRIN2B
DefP:G
26PGAP2
P:G

post-GPI attachment to proteins 2

26CAMK2B
P:G

calcium/calmodulin dependent protein kinase II beta

26UBE3A
DefP:G
26NR2F1
DefP:G

Intellectual disability

26QRICH1
DefP:G

glutamine rich 1

25NFIX
DefP:G
25SYP
ModP:G

Intellectual disability

25PAH
DefP:G
25PTPN11
DefP:G
25CNNM2
DefP:G
25HNRNPH1
DefP:G
25ITPR1
DefP:G
25PAK3
DefP:G
25PUF60
DefP:G
25TRIO
DefP:G
25UBE2A
DefP:G
25USP27X
LimP:A

Intellectual disability

24INPP5E
DefP:G#6

Intellectual disability

24ARSA
DefP:G
24HEPACAM
DefP:G

Intellectual disability

23ARID1A
DefP:G
23CNKSR2
DefP:G
23CTNNB1
DefP:G
23ZBTB18
DefP:G
23SCO2
DefP:G
23KRAS
DefP:G#15

Intellectual disability

22TCF4
DefP:G
22RAF1
DefP:G#18
22PORCN
DefP:G
22AP1S2
DefP:G

Severe intellectual disability

22FGFR3
DefP:R#1
22HIVEP2
P:G
22MAPK1
P:G

mitogen-activated protein kinase 1

22BCOR
DefP:G
22EZH2
DefP:G
21TMEM67
DefP:G

Moderate intellectual disability

21NSD1
DefP:G

Intellectual disability

21ANKRD11
DefP:G
21ARID1B
DefP:G
21BRPF1
DefP:G
21CNOT1
DefP:G
21HCFC1
DefP:G

Intellectual disability

21KCNQ2
DefP:G
21KMT2A
DefP:G
21KMT2D
DefP:G
21MEF2C
DefP:G
21SETBP1
DefP:G
21BCL11A
DefP:G

BCL11 transcription factor A

21DHCR7
DefP:G
21SMARCA4
DefP:G
20CHD8
DefP:G
20EFTUD2
DefP:G
20NBEA
DefP:G

neurobeachin

20ASH1L
DefP:G

ASH1 like histone lysine methyltransferase

20AGA
DefP:G

Intellectual disability

20SETD2
DefP:G

SET domain containing 2, histone lysine methyltransferase

Consider

407 genes
20PIGO
DefP:G

Intellectual disability

20PURA
DefP:G

purine rich element binding protein A

19GLB1
DefP:G
19THOC2
DefP:G

Intellectual disability

19PACS1
DefP:G

Intellectual disability

19PRPS1
DefP:G

Intellectual disability

19SUMF1
DefP:G
19BRSK2
DefP:G
19EHMT1
DefP:G
19IDUA
DefP:G
19KDM6A
DefP:G
19MAGEL2
DefP:G
19NAGLU
DefP:G
19OTC
DefSFP:G
19PCCA
DefP:G
19PMM2
DefP:G
19PTCHD1
DefP:G
19PPP2R5D
DefP:G

protein phosphatase 2 regulatory subunit B'delta

19GABRB2
DefP:G

gamma-aminobutyric acid type A receptor subunit beta2

19ATP6V0A2
DefP:G#12

Intellectual disability

19LIMK1
P:R
19TRPM3
DefP:G

Intellectual disability

18FGFR2
DefP:A#5

Intellectual disability

18SLC16A2
DefP:G

Severe intellectual disability

18RAB3GAP2
DefP:G
18TUBA1A
DefP:G

tubulin alpha 1a

18YY1
DefP:G

YY1 transcription factor

18POU3F3
DefP:G

POU class 3 homeobox 3

18POMT1
DefP:G

Severe intellectual disability

18HNRNPU
DefP:G

heterogeneous nuclear ribonucleoprotein U

18RALA
DefP:G

RAS like proto-oncogene A

17KCNH1
DefP:G

potassium voltage-gated channel subfamily H member 1

17FANCD2
DefP:A
17FTSJ1
DefP:G

Moderate intellectual disability

17MTOR
DefP:G

Intellectual disability

17CAMTA1
DefP:G
17DLG4
DefP:G
17EBF3
DefP:G
17FOXG1
DefP:G
17PIGW
LimP:G
17SATB2
DefP:G
17SON
DefP:G

Intellectual disability

17MAP2K1
DefP:G

Intellectual disability

17ZBTB20
DefP:G

Intellectual disability

17CLCN5
DefP:R
17DEPDC5
DefP:G
17GRIN2A
DefP:G
17KPTN
DefP:G
17NGLY1
DefP:G
17TET3
DefP:G
17TLK2
DefP:G
17TSPAN7
ModP:A
17USP7
DefP:G
17WDR62
DefP:G
17PRSS12
LimP:G

Severe intellectual disability

16PCGF2
StrP:G

polycomb group ring finger 2

16FKBP6
P:R
16ERCC6
DefP:G

Intellectual disability

16ANK3
ModP:G
16DPM2
ModP:G
16GRIA3
DefP:G
16KDM5B
ModP:G
16LINS1
DefP:G
16PIGV
ModP:G
16SBF1
ModP:G
16MED23
ModP:G

Intellectual disability

16ELP2
P:G

Intellectual disability

16ARFGEF1
P:G

ARF guanine nucleotide exchange factor 1

16SPTAN1
DefP:G

Intellectual disability

16KCNN2
P:G

potassium calcium-activated channel subfamily N member 2

16KCNQ5
P:G

potassium voltage-gated channel subfamily Q member 5

15ARF3
P:G

ARF GTPase 3

15KDM5A
LimP:G

lysine demethylase 5A

15BBS2
DefP:G

Intellectual disability

15COL4A1
DefP:G
15CSNK2B
DefP:G
15DYNC1H1
DefP:G
15GABRB3
DefP:G
15GNAI1
DefP:G
15HNF1B
DefP:A
15IVD
DefP:G
15MAN2B1
DefP:G
15MLC1
DefP:G
15RAB3GAP1
DefP:G
15SPG11
DefP:G
15ST3GAL5
DefP:G
15STAG1
DefP:G
15TAF2
P:G
15TUBGCP6
DefP:G
15ZEB2
DefP:G
15DNMT3A
DefP:G

Intellectual disability

15ARX
DefP:G
15ASXL1
DefP:G
15CDKL5
DefP:G
15CHD2
DefP:G
15DCX
DefP:G
15DMD
DefP:G
15EBP
DefP:G
15HNRNPK
DefP:G
15MID1
DefP:G
15MSL3
DefP:G
15NDP
DefP:G
15NHS
DefP:G
15NRXN1
DefP:G
15NUS1
DefP:G
15PHIP
DefP:G
15PQBP1
DefP:G
15RAI1
DefP:G
15SLC35A2
DefP:G
15SLC9A6
DefP:G
15SMC1A
DefP:G
15SYN1
DefP:G
15TRIP12
DefP:G
15WDR45
DefP:G
15CHD5
P:G

chromodomain helicase DNA binding protein 5

14RNF125
P:G

Intellectual disability

14SLC35C1
StrP:G

Intellectual disability

14OTUD5
ModP:G
14SLC6A1
P:G
14CRBN
ModP:A
14MAOA
DefP:G

Intellectual disability

14NDE1
DefP:G

Intellectual disability

14POMGNT1
DefP:G

Severe intellectual disability

14RUSC2
ModP:A
14FGFR1
DefP:R

Intellectual disability

14ZMYM2
StrP:G

Intellectual disability

14KCNH5
DefP:G

Intellectual disability

14KMT5B
DefP:G

Intellectual disability

14MED12L
DefP:G

Intellectual disability

14UBTF
DefP:G

Profound intellectual disability

13DHRSX
P:G

Profound intellectual disability

13ATM
DefP:R
13CLPB
LimP:G
13PRRT2
DefP:A
13AFF3
P:G

Intellectual disability

13GRIK2
DefP:G

Mild intellectual disability

13PCDHGC4
P:G

Intellectual disability

13ABHD5
DefP:G
13ALG12
DefP:G
13AP4M1
DefP:G

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 1; APMR1

Alopecia-intellectual disability syndrome 2

Alopecia-intellectual disability syndrome 3

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4

13ATP6AP2
DefP:G
13BICRA
DefP:G
13BTD
DefSFP:G
13CHAMP1
DefP:G
13COQ4
DefP:G

CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CPCMR

13CSDE1
DefP:G
13DHDDS
DefP:G

DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES; DIDDF

13DNM1
DefP:G
13EEF1A2
DefP:G
13EIF2S3
DefP:G
13FRMPD4
DefP:G
13FUCA1
DefP:G
13GALC
DefP:G
13GJC2
DefP:G
13GLDC
DefP:G
13GMPPB
DefP:G
13HSD17B10
DefP:G

INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS

13IRF2BPL
DefP:G
13LAMA1
P:G
13LZTR1
DefSFP:G
13MBD5
DefP:G
13MBTPS2
DefP:G
13MN1
DefP:G

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65

INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB

13MTHFR
DefP:G
13NEXMIF
DefP:G
13NYX
DefP:A
13PCCB
DefP:G
13PEX3
DefP:G
13PIGA
DefP:G
13POMGNT2
DefP:G
13RARB
DefP:G
13RBM10
DefP:G
13RFX3
DefP:G
13RTEL1
DefP:G

SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; SBIDDS

13SCN8A
DefP:G
13SETD1B
DefP:G
13SRCAP
DefP:G
13TFE3
DefP:G
13TRNT1
DefP:G
13TRPS1
P:R

Intellectual disability

13VCP
DefP:G
13WAC
DefP:G
13WDR37
DefP:G

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; XLID1

13PUS3
P:G

Severe intellectual disability

13SOX10
DefP:G

Intellectual disability

13WDR73
P:G

Intellectual disability

13TBX1
P:A

Intellectual disability

12CACNA1G
DefP:G

Intellectual disability

12PPFIBP1
P:G

Intellectual disability

12BCAS3
P:G

Severe intellectual disability

12LAS1L
LimP:A

Intellectual disability

12ACACA
P:G
12GABRA5
P:G
12HERC2
P:G
12PLXNB2
P:G
12TAOK2
P:G
12TTI1
P:G
12INTS11
P:G

Severe intellectual disability

12ATG7
StrP:G
12CACNA1B
ModP:G
12CCDC22
ModP:G
12EED
ModP:G
12GTF2I
P:A
12POLA1
ModP:G
12PPP1R12A
StrP:G
12ZFX
StrP:G
12ACP5
P:A

Mild intellectual disability

12GTPBP2
DefP:G

Severe intellectual disability

12PEX5
DefP:G

Severe intellectual disability

11FGF12
DefP:G

Profound intellectual disability

11SPART
DefP:G

Mild intellectual disability

11SDCCAG8
DefP:G

Mild intellectual disability

11SYNE1
DefP:R
11CDK16
LimP:G
11CELF4
P:A
11CRELD1
LimP:G
11DLL1
DefP:G

Intellectual disability

11DNAJC30
Def
11DOCK8
DefP:A
11FANCB
DefP:R
11FANCG
DefP:A
11GBA2
DefP:A
11GNE
DefP:A
11HDAC8
DefP:G

Intellectual disability

11L1CAM
DefP:G

Intellectual disability

11LARS2
DefP:A
11LZTFL1
DefP:A
11NFIB
DefP:A
11RMRP
DefP:A
11ROBO1
LimP:G
11SLC1A1
LimP:G
11SOX5
DefP:G

Intellectual disability

11TYMP
Def
11SLC1A2
DefP:G

Profound intellectual disability

11APC2
StrP:G

Intellectual disability

11RFT1
ModP:G

Severe intellectual disability

11SLC6A17
ModP:G

Severe intellectual disability

Intellectual disability

11AP3B1
DefP:G

Mild intellectual disability

11C2CD3
DefP:G

Severe intellectual disability

11CDK5RAP2
DefP:G

Moderate intellectual disability

11COG8
DefP:G

Intellectual disability

11FLVCR1
DefP:G

Mild intellectual disability

11GALE
DefP:G

Intellectual disability

11GNPAT
DefP:G

Severe intellectual disability

11IFT172
DefP:G

Borderline intellectual disability

11CACNA1C
DefP:G

Intellectual disability

11HECTD4
P:G

Intellectual disability

11LRRC7
P:G

Moderate intellectual disability

11TCEAL1
P:G

Intellectual disability

11UBR7
P:G

Intellectual disability

10GABBR2
ModP:G

Intellectual disability

10LONP1
LimP:G

Intellectual disability

10MAB21L2
DefP:G

Moderate intellectual disability

10ALDOA
P:A
10WASHC4
P:A
10MTFMT
DefP:G

Intellectual disability

10SLC39A8
LimP:G

Profound intellectual disability

10AFF4
P:G
10CDK9
P:G
10CENPF
P:G
10DEAF1
P:G
10EXOSC3
P:G
10FBXO31
P:G
10GLIS3
P:G
10GLRA2
P:G
10GRM7
P:G
10MAPRE2
P:G
10NUDT2
P:G
10PI4KA
P:G
10PITRM1
P:G
10PPP1R3F
P:G
10SEPSECS
P:G
10TAF1
P:G
10TSEN2
P:G
10TTI2
P:G
10WASHC5
ModP:A
10WDR81
P:G
10WNK3
P:G
10ZBTB47
P:G
10FBXW11
P:G

Intellectual disability

10ZNF142
P:G

Intellectual disability

10TTC19
DefP:G

Mild intellectual disability

Intellectual disability

Intellectual disability

9ASCC3
P:G

Mild intellectual disability

9HNRNPC
P:G

Mild intellectual disability

9TAF6
P:G

Intellectual disability

9UBR5
P:G

Mild intellectual disability

9CAPN3
Def
9CORO1A
Def
9OCA2
Def
9HAAO
Def

Intellectual disability

9ABCC6
DefP:R
9ADSL
DefP:G

Intellectual disability

9ALDH4A1
DefP:G

Intellectual disability

9ANO10
DefP:R
9ANOS1
Def
9ARSL
Def
9C9ORF72
DefP:R
9CACNA1F
DefP:R
9CDKN2A
Def
9CSF2RA
DefP:R
9DARS2
DefP:G

Intellectual disability

9DPP6
DisP:R
9ENG
Def
9FOXP3
DefP:R
9FZD4
Def
9GNPTG
DefP:G

Intellectual disability

9GNS
DefP:G

Intellectual disability

9IL11RA
DefP:R
9KLHL40
DefP:R
9MLH1
DefSFP:R
9NANS
DefP:G

Intellectual disability

9NEU1
DefP:G

Intellectual disability

9NLGN4X
DefP:R
9NPRL3
Def
9PEX1
DefP:G

Intellectual disability

9PHEX
Def
9RP2
Def
9RPGR
DefP:R
9RS1
Def
9SCN11A
DefP:R
9SLC25A15
DefP:G

Intellectual disability

9STX11
DefP:R
9TDP2
DefP:G

Intellectual disability

9TEK
DefP:R
9TGFBR2
DefSFP:R
9TMEM126B
DefP:R
9TTR
DefSFP:R
9TYR
DefP:R
9VHL
DefSF
9XPC
DefP:R
9CDH15
DisP:R

Intellectual disability

8CEP135
P:G

Severe intellectual disability

8PGAP1
P:G

Severe intellectual disability

Intellectual disability

Profound intellectual disability

8GABRG3
P:R
8KIF22
P:R
8FREM1
P:R

Mild intellectual disability

8CHL1
P:A
8CPT1B
No
8DDX53
P:A
8DLG2
P:A
8EDEM3
StrP:G

Intellectual disability

8FDFT1
P:A
8HYLS1
ModP:R
8IQSEC1
P:A
8KLHL15
P:A
8PTH1R
P:A
8RIC1
P:A
8SHROOM4
DisP:A
8SLC9A7
P:A
8SRGAP3
P:A
8TDP1
P:A
8TMLHE
DisP:A
8TRAK1
P:A

Possible

985 genes — click to expand
8MSL2
P:G

Moderate intellectual disability

7BCORL1
LimP:A

Severe intellectual disability

7CDC40
P:R

Severe intellectual disability

7AIMP2
DefP:A

Profound intellectual disability

7ATP2B2
Def
7BSND
DefP:A

Intellectual disability

7CAV3
Def
7CFAP47
LimP:R
7CLDN16
Def
7DMRT1
Def
7DNAI1
Def
7DSC2
DefSF
7DSG2
DefSF
7FANCE
DefP:A

Intellectual disability

7FHOD3
Def
7GATA1
Def
7GLE1
LimP:R
7GPR143
Def
7IFT74
Def
7IL2RA
Def
7KCNV2
Def
7LMNA
DefSFP:A

Intellectual disability

7LRSAM1
Def
7MBTPS1
Def
7MOCOS
Def
7MPV17
DefP:A

Moderate intellectual disability

7MYH11
DefSF
7MYL3
DefSF
7NBEAL2
Def
7NEK10
Def
7PAX3
DefP:R

Intellectual disability

7PAX5
Def
7PDK3
Def
7PPARG
Def
7SCN5A
DefSF
7SKIC3
Def
7SLC12A5
LimP:G

Intellectual disability

7SMPX
Def
7STT3B
LimP:R
7TMEM43
DefSF
7TMIE
Def
7TOPORS
Def
7TPM2
Def
7WAS
Def
7GTF3C3
P:G

Mild intellectual disability

7CHD1
LimP:A

Intellectual disability

7DHX9
P:G

Borderline intellectual disability

6DAP3
P:A

Mild intellectual disability

6ACE2
P:R
6ACOT9
P:R
6ADGRG6
P:R
6AK1
P:R
6AKAP4
P:R
6AKR1C2
P:R
6AQP7
P:R
6ASMTL
P:R

Intellectual disability

6ATXN3L
P:R
6BMP15
P:R
6CCNB3
P:R
6CD99
P:R
6CLIC2
DisP:R
6CNKSR1
P:R
6CNTN4
DisP:R
6CRLF2
P:R
6CTPS2
P:R
6CYFIP1
P:R
6ELK1
P:R
6EOMES
P:R
6ERI1
P:G

Intellectual disability

6FAM47B
P:R
6FYCO1
P:R
6GPKOW
Mod
6GSPT2
P:R
6HDAC6
P:R
6IL3RA
P:R
6JAGN1
P:R
6JPH3
P:R
6KANK1
P:R
6KCND1
P:R
6KCNN3
P:G

Intellectual disability

6KLHL34
P:R
6MAGEB1
P:R
6MAGEB2
P:R
6MAGED1
P:R
6MAGIX
P:R
6MTAP
Mod
6MTMR14
P:R
6MXRA5
P:R
6NARS1
Mod
6NIPA1
P:R
6NPR2
P:R
6P2RY8
P:R
6PHKA2
P:R
6PLCXD1
P:R
6PMPCB
P:G

Intellectual disability

6PRDX4
P:R
6PRMT7
P:G

Intellectual disability

6PRRG1
P:R
6SLC7A5
Mod
6SYTL5
P:R
6TAMM41
Mod
6TLR7
Mod
6TLR8
P:R
6TOP2B
Mod
6TRIM63
Mod
6TUBAL3
P:R
6TYRP1
P:R
6WDR13
P:R
6WNT7A
P:R
6WWC3
P:R
6ZNF41
DisP:R
6ZNF674
DisP:R
6ZNF81
DisP:R
6H4C5
Str

Intellectual disability

5NUP133
Mod

Profound intellectual disability

5MGME1
Def

Intellectual disability

5ABCC1
Lim
5ARPP21
Lim
5CRIPTO
Lim
5DTNA
Lim

EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; EPILX1

5FBLN2
Lim
5MGP
DefP:R

Mild intellectual disability

5MRPS25
Lim
5SAT1
Lim
5SLC2A10
DefP:R

Intellectual disability

5SLC6A6
Lim
5PNPLA2
Def

Mild intellectual disability

Intellectual disability

Mild intellectual disability

Intellectual disability

5HELLS
Mod

Intellectual disability

Intellectual disability

4NARS2
Def

Mild intellectual disability

4AVPR2
P:R

Intellectual disability

4CNTN6
Dis
4GPD1L
Dis
4RAI2
Dis
4SCN10A
Dis
4ZNF148
P:A

Intellectual disability

4CCDC78
LimP:R

Intellectual disability

4NAA60
P:R

Mild intellectual disability

3DIP2B
P:R

Intellectual disability

3AFG2A
Def

Severe intellectual disability

3FLCN
Def

Mild intellectual disability

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.