CIP
MCID: IND012
MIFTS: 44

Indifference to Pain, Congenital, Autosomal Recessive (CIP)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Indifference to Pain, Congenital, Autosomal Recessive

MalaCards integrated aliases for Indifference to Pain, Congenital, Autosomal Recessive:

Name: Indifference to Pain, Congenital, Autosomal Recessive 57 73 29 6
Neuropathy, Hereditary Sensory and Autonomic, Type Iid 57 6
Insensitivity to Pain, Channelopathy-Associated 57 13
Asymbolia for Pain 57 73
Cip 57 73
Channelopathy-Associated Congenital Insensitivity to Pain 58
Channelopathy-Associated Insensitivity to Pain 73
Congenital Analgesia, Autosomal Recessive 57
Congenital Analgesia Autosomal Recessive 73
Insensitivity to Pain, Congenital 57
Channelopathy-Associated Cip 58

Characteristics:

Orphanet epidemiological data:

58
channelopathy-associated congenital insensitivity to pain
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
variable severity (in patients with hsan2d)
affected individuals are highly prone to burn-related injuries


HPO:

31
indifference to pain, congenital, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 243000
MeSH 44 D000699
MESH via Orphanet 45 D000699 D009477
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 72 C0002768 C0020075
Orphanet 58 ORPHA88642
MedGen 41 C1855739

Summaries for Indifference to Pain, Congenital, Autosomal Recessive

OMIM® : 57 Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012). Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013). For a discussion of genetic heterogeneity of HSAN, see HSAN1 (162400). (243000) (Updated 05-Mar-2021)

MalaCards based summary : Indifference to Pain, Congenital, Autosomal Recessive, also known as neuropathy, hereditary sensory and autonomic, type iid, is related to insensitivity to pain, congenital, with anhidrosis and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Indifference to Pain, Congenital, Autosomal Recessive is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Affiliated tissues include bone and tongue, and related phenotypes are hypohidrosis and anosmia

UniProtKB/Swiss-Prot : 73 Indifference to pain, congenital, autosomal recessive: A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating.

Related Diseases for Indifference to Pain, Congenital, Autosomal Recessive

Diseases related to Indifference to Pain, Congenital, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 147)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 11.6
2 neuropathy, hereditary sensory and autonomic, type v 11.5
3 marsili syndrome 11.5
4 critical illness polyneuropathy 11.3
5 neuropathy, hereditary sensory and autonomic, type vii 11.1
6 retinoblastoma 10.2
7 pain sensitivity quantitative trait locus 1 10.2
8 intraocular pressure quantitative trait locus 10.1
9 polyneuropathy 10.0
10 generalized epilepsy with febrile seizures plus, type 2 10.0 SCN9A SCN11A
11 febrile seizures 9.9 SCN9A SCN1A-AS1
12 febrile seizures, familial, 1 9.9 SCN9A SCN1A-AS1
13 ovarian cancer 9.9
14 leukemia, acute myeloid 9.9
15 squamous cell carcinoma 9.9
16 oligodendroglioma 9.9
17 liver cirrhosis 9.9
18 eye disease 9.9
19 chronic kidney disease 9.9
20 myeloid leukemia 9.9
21 polyploidy 9.9
22 generalized epilepsy with febrile seizures plus, type 7 9.9 SCN9A SCN1A-AS1
23 sensory peripheral neuropathy 9.9 SCN9A SCN11A
24 autonomic neuropathy 9.9 SCN9A SCN11A
25 familial febrile seizures 9.8 SCN9A SCN1A-AS1
26 epilepsy, idiopathic generalized 9.8 SCN9A SCN11A
27 neuropathy, hereditary sensory and autonomic, type iia 9.8 SCN9A SCN1A-AS1
28 brugada syndrome 1 9.8 SCN9A SCN10A
29 pain agnosia 9.8 SCN9A SCN10A
30 autoimmune disease 9.8
31 bladder cancer 9.8
32 breast cancer 9.8
33 glaucoma, primary open angle 9.8
34 glioma susceptibility 1 9.8
35 kaposi sarcoma 9.8
36 scleroderma, familial progressive 9.8
37 suppressor of tumorigenicity 3 9.8
38 lung cancer 9.8
39 myeloma, multiple 9.8
40 ocular motor apraxia 9.8
41 pancreatic cancer 9.8
42 insulin-like growth factor i 9.8
43 testicular germ cell tumor 9.8
44 body mass index quantitative trait locus 11 9.8
45 muscular dystrophy, duchenne type 9.8
46 aging 9.8
47 pituitary adenoma, prolactin-secreting 9.8
48 body mass index quantitative trait locus 9 9.8
49 body mass index quantitative trait locus 8 9.8
50 cervical cancer 9.8

Graphical network of the top 20 diseases related to Indifference to Pain, Congenital, Autosomal Recessive:



Diseases related to Indifference to Pain, Congenital, Autosomal Recessive

Symptoms & Phenotypes for Indifference to Pain, Congenital, Autosomal Recessive

Human phenotypes related to Indifference to Pain, Congenital, Autosomal Recessive:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 31 HP:0000966
2 anosmia 31 HP:0000458
3 hyporeflexia 31 HP:0001265
4 hyposmia 31 HP:0004409
5 anhidrosis 31 HP:0000970
6 pain insensitivity 31 HP:0007021
7 painless fractures due to injury 31 HP:0002661
8 urinary incontinence 31 HP:0000020
9 abnormal autonomic nervous system physiology 31 HP:0012332

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Nose:
anosmia
hyposmia

Neurologic Peripheral Nervous System:
hyporeflexia
isolated absence of pain sensation
temperature sensation may be diminished
all other sensory modalities are intact
normal peripheral nerve biopsy
more
Head And Neck Ears:
hearing impairment, asymmetric (in some patients with hsan2d)

Genitourinary Bladder:
urinary incontinence (in some patients with hsan2d)

Skeletal Feet:
ulceration of digits

Laboratory Abnormalities:
normal axonal flare response after intradermal histamine injection

Neurologic Central Nervous System:
anosmia
isolated absence of pain sensation
autonomic dysfunction (in patients with hsan2d)

Skeletal:
painless fractures due to injury
neuropathic joints
bone deformities resulting from untreated fractures
bone dysplasia (in some patients)

Head And Neck Mouth:
reduced numbers of tongue fungiform papilla (in some patients with hsan2d)

Skeletal Hands:
ulceration of digits

Skin Nails Hair Skin:
distal painless ulcers
hypohidrosis (in patients with hsan2d)
anhidrosis (in patients with hsan2d)

Clinical features from OMIM®:

243000 (Updated 05-Mar-2021)

Drugs & Therapeutics for Indifference to Pain, Congenital, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Indifference to Pain, Congenital, Autosomal Recessive

Genetic Tests for Indifference to Pain, Congenital, Autosomal Recessive

Genetic tests related to Indifference to Pain, Congenital, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Indifference to Pain, Congenital, Autosomal Recessive 29 SCN9A

Anatomical Context for Indifference to Pain, Congenital, Autosomal Recessive

MalaCards organs/tissues related to Indifference to Pain, Congenital, Autosomal Recessive:

40
Bone, Tongue

Publications for Indifference to Pain, Congenital, Autosomal Recessive

Articles related to Indifference to Pain, Congenital, Autosomal Recessive:

(show all 26)
# Title Authors PMID Year
1
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. 6 57
23596073 2013
2
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 57 6
17470132 2007
3
An SCN9A channelopathy causes congenital inability to experience pain. 6 57
17167479 2006
4
Human Mendelian pain disorders: a key to discovery and validation of novel analgesics. 57
22845492 2012
5
Loss-of-function mutations in sodium channel Nav1.7 cause anosmia. 57
21441906 2011
6
Two novel SCN9A mutations causing insensitivity to pain. 57
19304393 2009
7
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome. 57
18541889 2008
8
Congenital insensitivity to pain: an update. 57
12583863 2003
9
Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy. 57
6189547 1983
10
[The congenital indifference to pain. 2 futher cases]. 57
4190086 1969
11
Congenital pain asymbolia and auditory imperception. 57
4176404 1968
12
[APROPOS OF A CASE OF CONGENITAL INDIFFERENCE TO PAIN (UNIVERSAL CONGENITAL ANALGESIA). PATHOGENIC HYPOTHESIS]. 57
14177235 1964
13
[CONGENITAL INDIFFERENCE TO PAIN. FAMILIAL CASE; CLINICAL AND BIOLOGICAL PECULIARITIES]. 57
14177236 1964
14
A GENETICAL INVESTIGATION OF CONGENITAL ANALGESIA I. CYTOGENETIC STUDIES. 57
14209604 1964
15
A GENETICAL INVESTIGATION OF CONGENITAL ANALGESIA. II. CLINICO-GENETICAL STUDIES. 57
14209605 1964
16
Chromosome trisomy of group 13-15 in two cases of generalised congenital analgesia. 57
13970027 1963
17
Congenital absence of pain. Report of a case and experimental studies. 57
14007517 1962
18
[Congenital analgia (congenital universal absence of pain)]. 57
13776331 1961
19
Congenital universal insensitivity to pain. 57
13688072 1960
20
Some sensory syndromes in children: indifference to pain and sensory neuropathy. 57
14428406 1959
21
Congenital insensitivity to pain: a neurologic syndrome with bizarre skeletal lesions. 57
13634374 1959
22
[Congenital analgia (congenital generalized pain indifference)]. 57
13448589 1957
23
Pain behavior without pain sensation: an epileptic syndrome of "symbolism for pain"? 61
31738227 2020
24
Congenital insensitivity to pain: a 20 year follow up. 61
7520056 1994
25
[Left pseudothalamic cortical syndrome and pain asymbolia]. 61
1763257 1991
26
Asymbolia for pain: a sensory-limbic disconnection syndrome. 61
3415199 1988

Variations for Indifference to Pain, Congenital, Autosomal Recessive

ClinVar genetic disease variations for Indifference to Pain, Congenital, Autosomal Recessive:

6 (show top 50) (show all 215)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A-AS1 NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) SNV Pathogenic 202190 rs794729216 2:167133644-167133644 2:166277134-166277134
2 SCN1A-AS1 NM_001365536.1(SCN9A):c.4364del (p.Val1455fs) Deletion Pathogenic 488589 rs1553478584 2:167083111-167083111 2:166226601-166226601
3 SCN1A-AS1 NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) SNV Pathogenic 6363 rs121908917 2:167149864-167149864 2:166293354-166293354
4 SCN9A NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) SNV Pathogenic 6362 rs121908916 2:167159672-167159672 2:166303162-166303162
5 SCN1A-AS1 NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) SNV Pathogenic 6355 rs121908909 2:167133643-167133643 2:166277133-166277133
6 SCN1A-AS1 NM_001365536.1(SCN9A):c.2331del (p.Ala777_Ile778insTer) Deletion Pathogenic 6354 rs1574856736 2:167136879-167136879 2:166280369-166280369
7 SCN1A-AS1 NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) SNV Pathogenic 6353 rs121908908 2:167143072-167143072 2:166286562-166286562
8 SCN1A-AS1 NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) Deletion Pathogenic 471099 rs766212849 2:167134709-167134713 2:166278199-166278203
9 SCN1A-AS1 NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) Indel Pathogenic 157598 rs606231279 2:167085381-167085381 2:166228871-166228871
10 SCN1A-AS1 NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) Indel Pathogenic 157598 rs606231279 2:167085381-167085381 2:166228871-166228871
11 SCN1A-AS1 NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) SNV Likely pathogenic 504889 rs200070962 2:167060506-167060506 2:166203996-166203996
12 SCN1A-AS1 NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) SNV Uncertain significance 548618 rs763256222 2:167144976-167144976 2:166288466-166288466
13 SCN1A-AS1 NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) SNV Uncertain significance 130260 rs199692186 2:167129258-167129258 2:166272748-166272748
14 SCN1A-AS1 NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) SNV Uncertain significance 331995 rs886055055 2:167149754-167149754 2:166293244-166293244
15 SCN1A-AS1 NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) SNV Uncertain significance 254095 rs41268671 2:167134706-167134706 2:166278196-166278196
16 SCN1A-AS1 NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) SNV Uncertain significance 331973 rs886055053 2:167128995-167128995 2:166272485-166272485
17 SCN9A NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) SNV Uncertain significance 198153 rs71428908 2:167160752-167160752 2:166304242-166304242
18 SCN1A-AS1 NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) SNV Uncertain significance 471092 rs200374987 2:167138287-167138287 2:166281777-166281777
19 SCN1A-AS1 NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) SNV Uncertain significance 892607 2:167055902-167055902 2:166199392-166199392
20 SCN1A-AS1 NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) SNV Uncertain significance 130272 rs199550149 2:167056226-167056226 2:166199716-166199716
21 SCN1A-AS1 NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr) SNV Uncertain significance 893487 2:167099163-167099163 2:166242653-166242653
22 SCN1A-AS1 NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) SNV Uncertain significance 415031 rs200560768 2:167129093-167129093 2:166272583-166272583
23 SCN1A-AS1 NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) SNV Uncertain significance 471106 rs757989638 2:167129135-167129135 2:166272625-166272625
24 SCN1A-AS1 NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) SNV Uncertain significance 642002 rs369989247 2:167138295-167138295 2:166281785-166281785
25 SCN1A-AS1 NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) SNV Uncertain significance 258885 rs200160858 2:167108345-167108345 2:166251835-166251835
26 SCN1A-AS1 NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val) SNV Uncertain significance 893844 2:167136970-167136970 2:166280460-166280460
27 SCN1A-AS1 NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) SNV Uncertain significance 471078 rs202002028 2:167145151-167145151 2:166288641-166288641
28 SCN9A NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) SNV Uncertain significance 198153 rs71428908 2:167160752-167160752 2:166304242-166304242
29 SCN9A NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) SNV Uncertain significance 893992 2:167168194-167168194 2:166311684-166311684
30 SCN9A NM_001365536.1(SCN9A):c.-31G>A SNV Uncertain significance 893993 2:167168297-167168297 2:166311787-166311787
31 SCN1A-AS1 NM_001365536.1(SCN9A):c.*2945C>A SNV Uncertain significance 894028 2:167052237-167052237 2:166195727-166195727
32 SCN9A NM_002977.3(SCN9A):c.-324C>A SNV Uncertain significance 894029 2:167232480-167232480 2:166375970-166375970
33 SCN1A-AS1 NM_001365536.1(SCN9A):c.*1422T>C SNV Uncertain significance 894137 2:167053760-167053760 2:166197250-166197250
34 SCN1A-AS1 NM_001365536.1(SCN9A):c.*900T>C SNV Uncertain significance 894167 2:167054282-167054282 2:166197772-166197772
35 SCN1A-AS1 NM_001365536.1(SCN9A):c.*237C>T SNV Uncertain significance 893366 2:167054945-167054945 2:166198435-166198435
36 SCN1A-AS1 NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) SNV Uncertain significance 646093 rs199822303 2:167055204-167055204 2:166198694-166198694
37 SCN1A-AS1 NM_001365536.1(SCN9A):c.*2928G>A SNV Uncertain significance 331901 rs199559478 2:167052254-167052254 2:166195744-166195744
38 SCN9A NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) SNV Uncertain significance 332001 rs200826539 2:167168138-167168138 2:166311628-166311628
39 SCN1A-AS1 NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) SNV Uncertain significance 331971 rs141040985 2:167108379-167108379 2:166251869-166251869
40 SCN1A-AS1 NM_001365536.1(SCN9A):c.*2860C>T SNV Uncertain significance 331902 rs200963393 2:167052322-167052322 2:166195812-166195812
41 SCN1A-AS1 NM_001365536.1(SCN9A):c.*2191G>A SNV Uncertain significance 331918 rs201184093 2:167052991-167052991 2:166196481-166196481
42 SCN1A-AS1 NM_001365536.1(SCN9A):c.*3282A>C SNV Uncertain significance 331897 rs139483482 2:167051900-167051900 2:166195390-166195390
43 SCN1A-AS1 NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) SNV Uncertain significance 894261 2:167060932-167060932 2:166204422-166204422
44 SCN1A-AS1 NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) SNV Uncertain significance 894325 2:167149868-167149868 2:166293358-166293358
45 SCN1A-AS1 NM_001365536.1(SCN9A):c.*3204G>A SNV Uncertain significance 894401 2:167051978-167051978 2:166195468-166195468
46 SCN9A NM_001365536.1(SCN9A):c.-42T>C SNV Uncertain significance 894402 2:167168308-167168308 2:166311798-166311798
47 SCN9A NM_001365536.1(SCN9A):c.-92G>T SNV Uncertain significance 892956 2:167232248-167232248 2:166375738-166375738
48 SCN9A NM_002977.3(SCN9A):c.-348G>C SNV Uncertain significance 894428 2:167232504-167232504 2:166375994-166375994
49 SCN1A-AS1 NM_001365536.1(SCN9A):c.*1815T>C SNV Uncertain significance 894503 2:167053367-167053367 2:166196857-166196857
50 SCN1A-AS1 NM_001365536.1(SCN9A):c.*1417A>G SNV Uncertain significance 894541 2:167053765-167053765 2:166197255-166197255

UniProtKB/Swiss-Prot genetic disease variations for Indifference to Pain, Congenital, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 SCN9A p.Arg907Gln VAR_064610 rs102415236

Expression for Indifference to Pain, Congenital, Autosomal Recessive

Search GEO for disease gene expression data for Indifference to Pain, Congenital, Autosomal Recessive.

Pathways for Indifference to Pain, Congenital, Autosomal Recessive

Pathways related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 SCN9A SCN11A SCN10A
2
Show member pathways
12.27 SCN9A SCN11A SCN10A
3
Show member pathways
12.09 SCN9A SCN11A SCN10A
4 11.97 SCN9A SCN11A SCN10A
5
Show member pathways
11.43 SCN9A SCN11A SCN10A
6
Show member pathways
11.01 SCN9A SCN11A SCN10A
7 10.28 SCN9A SCN11A SCN10A

GO Terms for Indifference to Pain, Congenital, Autosomal Recessive

Cellular components related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 SCN9A SCN11A SCN10A
2 voltage-gated sodium channel complex GO:0001518 8.8 SCN9A SCN11A SCN10A

Biological processes related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.63 SCN9A SCN11A SCN10A
2 transmembrane transport GO:0055085 9.61 SCN9A SCN11A SCN10A
3 regulation of ion transmembrane transport GO:0034765 9.5 SCN9A SCN11A SCN10A
4 sodium ion transport GO:0006814 9.43 SCN9A SCN11A SCN10A
5 cation transmembrane transport GO:0098655 9.4 SCN9A SCN10A
6 sensory perception of pain GO:0019233 9.37 SCN9A SCN10A
7 sodium ion transmembrane transport GO:0035725 9.33 SCN9A SCN11A SCN10A
8 neuronal action potential GO:0019228 9.13 SCN9A SCN11A SCN10A
9 membrane depolarization during action potential GO:0086010 8.8 SCN9A SCN11A SCN10A

Molecular functions related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN9A SCN11A SCN10A
2 voltage-gated ion channel activity GO:0005244 9.43 SCN9A SCN11A SCN10A
3 cation channel activity GO:0005261 9.33 SCN9A SCN11A SCN10A
4 sodium channel activity GO:0005272 9.13 SCN9A SCN11A SCN10A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN9A SCN11A SCN10A

Sources for Indifference to Pain, Congenital, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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