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Homo sapiens

18 genes annotated in human

joubert syndrome

DOID:0050777

An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy).

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Gene Predictions

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Show only novel predictions Show only unknown genes Highlight genes with functional analogs involved in "joubert syndrome" (in gray)

Name	Description	Probability
KIAA1377	KIAA1377	0.865
CP110	CP110 protein	0.739
CEP97	centrosomal protein 97kDa	0.539
LUC7L3	LUC7-like 3 (S. cerevisiae)	0.505
LUC7L2	LUC7-like 2 (S. cerevisiae)	0.360
NKTR	natural killer-tumor recognition sequence	0.296
FAM190B	family with sequence similarity 190, member B	0.293
IQCB1	IQ motif containing B1	0.227
PIK3R3	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	0.158
RBM6	RNA binding motif protein 6	0.118
ZNF423	zinc finger protein 423	0.113
ESF1	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	0.099
ALDH18A1	aldehyde dehydrogenase 18 family, member A1	0.088
PTCD3	Pentatricopeptide repeat domain 3	0.084
IFT46	intraflagellar transport 46 homolog (Chlamydomonas)	0.066
WDR19	WD repeat domain 19	0.066
ADAM15	ADAM metallopeptidase domain 15	0.064
NAP1L5	nucleosome assembly protein 1-like 5	0.064
SMC5	structural maintenance of chromosomes 5	0.059
DPAGT1	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	0.057
NSF	N-ethylmaleimide-sensitive factor	0.056
ZDHHC16	zinc finger, DHHC-type containing 16	0.054
THOC2	THO complex 2	0.053
EFHC1	EF-hand domain (C-terminal) containing 1	0.049
ALG8	asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)	0.047
MAN2A2	mannosidase, alpha, class 2A, member 2	0.042
PRNP	prion protein	0.040
BBS4	Bardet-Biedl syndrome 4	0.040
EXTL2	exostoses (multiple)-like 2	0.039
GPRASP1	G protein-coupled receptor associated sorting protein 1	0.039
NPHP4	nephronophthisis 4	0.039
GOLGA6L9	golgin A6 family-like 9	0.038
TTC26	tetratricopeptide repeat domain 26	0.036
KIF3A	kinesin family member 3A	0.035
NEK1	NIMA (never in mitosis gene a)-related kinase 1	0.035
ERCC5	excision repair cross-complementing rodent repair deficiency, complementation group 5	0.033
BDP1	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	0.033
IFT88	intraflagellar transport 88 homolog (Chlamydomonas)	0.032
DYNC2LI1	dynein, cytoplasmic 2, light intermediate chain 1	0.031
ARL6	ADP-ribosylation factor-like 6	0.031
FNBP4	formin binding protein 4	0.030
ALMS1	Alstrom syndrome 1	0.029
ZNF432	zinc finger protein 432	0.028
CCAR1	cell division cycle and apoptosis regulator 1	0.028
RBM25	RNA binding motif protein 25	0.028
SNX9	sorting nexin 9	0.027
IFT52	intraflagellar transport 52 homolog (Chlamydomonas)	0.027
PRRC2C	proline-rich coiled-coil 2C	0.025
ZNF337	zinc finger protein 337	0.025
NPIP	nuclear pore complex interacting protein	0.025
CCDC45	coiled-coil domain containing 45	0.024
NME5	non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)	0.023
ANKRD36B	ankyrin repeat domain 36B	0.023
TMTC3	transmembrane and tetratricopeptide repeat containing 3	0.022
AHI1	Abelson helper integration site 1	0.021
LRRC49	leucine rich repeat containing 49	0.021
CDK5RAP2	CDK5 regulatory subunit associated protein 2	0.021
GOLGA8H	golgin A8 family, member H	0.020
WDR35	WD repeat domain 35	0.019
ODF2L	outer dense fiber of sperm tails 2-like	0.019
ANKRD36	ankyrin repeat domain 36	0.019
NR2C1	nuclear receptor subfamily 2, group C, member 1	0.018
FAM86B1	family with sequence similarity 86, member B1	0.018
PAN2	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	0.018
SAV1	salvador homolog 1 (Drosophila)	0.018
ZNF518A	zinc finger protein 518A	0.018
TMEM67	transmembrane protein 67	0.018
TMX2	thioredoxin-related transmembrane protein 2	0.018
TMEM216	transmembrane protein 216	0.017
RPGR	retinitis pigmentosa GTPase regulator	0.017
DENND4B	DENN/MADD domain containing 4B	0.017
C7orf49	chromosome 7 open reading frame 49	0.017
ZNF639	zinc finger protein 639	0.017
PCM1	pericentriolar material 1	0.017
CREBZF	CREB/ATF bZIP transcription factor	0.016
CLUAP1	clusterin associated protein 1	0.016
PLK1S1	polo-like kinase 1 substrate 1	0.016
MAP9	microtubule-associated protein 9	0.016
LMAN2L	lectin, mannose-binding 2-like	0.016
DYX1C1	dyslexia susceptibility 1 candidate 1	0.015
TMEM231	transmembrane protein 231	0.015
TTC30A	tetratricopeptide repeat domain 30A	0.015
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	0.015
RABL5	RAB, member RAS oncogene family-like 5	0.015
KIAA1009	KIAA1009	0.015
CCDC84	coiled-coil domain containing 84	0.015
DMTF1	cyclin D binding myb-like transcription factor 1	0.015
KIAA0753	KIAA0753	0.015
TMEM138	transmembrane protein 138	0.015
NPHP1	nephronophthisis 1 (juvenile)	0.015
C11orf70	chromosome 11 open reading frame 70	0.014
MCM3AP	minichromosome maintenance complex component 3 associated protein	0.014
LRRC1	leucine rich repeat containing 1	0.014
NEK11	NIMA (never in mitosis gene a)- related kinase 11	0.014
MLF1	myeloid leukemia factor 1	0.014
NAT9	N-acetyltransferase 9 (GCN5-related, putative)	0.014
C5orf54	chromosome 5 open reading frame 54	0.014
SLC25A36	solute carrier family 25, member 36	0.014
ZRSR2	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	0.014
PPIG	peptidylprolyl isomerase G (cyclophilin G)	0.014
TYW1	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	0.014
BBS5	Bardet-Biedl syndrome 5	0.014
CCDC113	coiled-coil domain containing 113	0.014
TBC1D19	TBC1 domain family, member 19	0.013
C7orf36	chromosome 7 open reading frame 36	0.013
C5orf42	chromosome 5 open reading frame 42	0.013
WDR60	WD repeat domain 60	0.013
ULK2	unc-51-like kinase 2 (C. elegans)	0.013
MANBAL	mannosidase, beta A, lysosomal-like	0.013
ZNF700	zinc finger protein 700	0.013
RPGRIP1L	RPGRIP1-like	0.013
C6orf170	chromosome 6 open reading frame 170	0.012
NSUN6	NOP2/Sun domain family, member 6	0.012
DNAL1	dynein, axonemal, light chain 1	0.012
CASC1	cancer susceptibility candidate 1	0.012
WDR75	WD repeat domain 75	0.012
TCTN3	tectonic family member 3	0.012
RBM39	RNA binding motif protein 39	0.012
PIH1D2	PIH1 domain containing 2	0.012
CCDC104	coiled-coil domain containing 104	0.012
GEMIN8	gem (nuclear organelle) associated protein 8	0.012
SH3PXD2A	SH3 and PX domains 2A	0.012
SIN3B	SIN3 homolog B, transcription regulator (yeast)	0.012
ZNF239	zinc finger protein 239	0.012
FAM161A	family with sequence similarity 161, member A	0.012
KIAA1407	KIAA1407	0.012
TTC14	tetratricopeptide repeat domain 14	0.011
KIAA0895	KIAA0895	0.011
SPATA17	spermatogenesis associated 17	0.011
ZNF37A	zinc finger protein 37A	0.011
C7orf63	chromosome 7 open reading frame 63	0.011
ZNF266	zinc finger protein 266	0.011
INTU	inturned planar cell polarity effector homolog (Drosophila)	0.011
TXLNG	taxilin gamma	0.011
MPV17	MpV17 mitochondrial inner membrane protein	0.011
EIF5A2	eukaryotic translation initiation factor 5A2	0.011
RAGE	renal tumor antigen	0.011
WDR52	WD repeat domain 52	0.011
MYST2	MYST histone acetyltransferase 2	0.011
PACRGL	PARK2 co-regulated-like	0.011
SDHAF2	succinate dehydrogenase complex assembly factor 2	0.011
RBM41	RNA binding motif protein 41	0.011
ANKRD26	ankyrin repeat domain 26	0.011
SPATA6	spermatogenesis associated 6	0.011
DOLK	dolichol kinase	0.011
PACSIN3	protein kinase C and casein kinase substrate in neurons 3	0.011
DNAL4	dynein, axonemal, light chain 4	0.011
IPO9	importin 9	0.011
C8orf37	chromosome 8 open reading frame 37	0.011
IFT74	intraflagellar transport 74 homolog (Chlamydomonas)	0.011
SLC26A2	solute carrier family 26 (sulfate transporter), member 2	0.011
PACSIN2	protein kinase C and casein kinase substrate in neurons 2	0.011
PHTF1	putative homeodomain transcription factor 1	0.011
SNAPC4	small nuclear RNA activating complex, polypeptide 4, 190kDa	0.011
NEURL4	neuralized homolog 4 (Drosophila)	0.011
RIOK1	RIO kinase 1 (yeast)	0.011
TTPAL	tocopherol (alpha) transfer protein-like	0.011
ABCA5	ATP-binding cassette, sub-family A (ABC1), member 5	0.011
TRPC1	transient receptor potential cation channel, subfamily C, member 1	0.010
C14orf179	chromosome 14 open reading frame 179	0.010
LRRC6	leucine rich repeat containing 6	0.010
CYB5D1	cytochrome b5 domain containing 1	0.010
MYEF2	myelin expression factor 2	0.010
EXD2	exonuclease 3'-5' domain containing 2	0.010
WDR85	WD repeat domain 85	0.010
SETD6	SET domain containing 6	0.010
CNTLN	centlein, centrosomal protein	0.010
SNAPC1	small nuclear RNA activating complex, polypeptide 1, 43kDa	0.010
ZNF10	zinc finger protein 10	0.010
RABL3	RAB, member of RAS oncogene family-like 3	0.010
ZFP37	zinc finger protein 37 homolog (mouse)	0.010
NAA16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	0.010
SPICE1	spindle and centriole associated protein 1	0.010
FBXL2	F-box and leucine-rich repeat protein 2	0.010
NME6	non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)	0.010
NAA25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	0.010
PIGU	phosphatidylinositol glycan anchor biosynthesis, class U	0.010
SVIL	supervillin	0.010
TCTN1	tectonic family member 1	0.009
CSPP1	centrosome and spindle pole associated protein 1	0.009
CEP290	centrosomal protein 290kDa	0.008
TSGA14	testis specific, 14	0.006
CC2D2A	coiled-coil and C2 domain containing 2A	0.005
ARL13B	ADP-ribosylation factor-like 13B	0.003
INPP5E	inositol polyphosphate-5-phosphatase, 72 kDa	0.003
ALS2CR4	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4	0.002
OFD1	oral-facial-digital syndrome 1	0.002